| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Abnormality of acid base homeostasis 0.3418200102570242 3.115348951130687 0.0018372741945684 0.9997919275629948 0.03113909572412 182 Q9BWD1,P49411,P11310,Q70HW3,Q9NYY8,P48735,P26440,P53597,Q96RR1,Q4G0N4,Q5JTZ9,P23786,P49748,Q9UBX3,Q9BW92,O43819,O60783,Q9H9P8,Q9Y2R9,O95831,Q04721,P82930,P35610,Q9NX14,P09622,Q9NPL8,P00846,Q5T440,O43678,Q9NP81,Q9BRT2,P16219,Q15046,Q969Y2,P54098,Q16836,P40818,Q96JX3,O95299,Q9NVI7,P51608,Q4G176,Q4J6C6,P22695,Q5JPH6 45 |
| Abnormality of the mitochondrion 0.4077372563189308 3.0480553298252557 0.0023032751441127 0.9999758287204376 0.038057700409892 95 P31040,P11177,P11310,Q70HW3,P53597,P51530,Q96RR1,Q9Y4W6,Q4G0N4,P23786,P49748,Q9UBX3,O43772,O60783,P09622,Q9NX14,Q9NPL8,P00846,Q16134,Q5T440,O43678,Q15046,Q969Y2,P54098,Q16836,Q7Z406,O95299,Q13148,Q4J6C6,Q5JPH6,Q9BU61 31 |
| Thick eyebrow 0.5176772667880546 2.981821269676926 0.0028653922743737 0.9999982012521152 0.0450834757162562 45 Q03164,Q8WWQ0,O14646,Q9Y4W2,P51532,Q9UHB7,O95831,Q04721,Q9UQE7,P62266,Q69YQ0,Q96N67,Q8TAQ2,Q14683,Q6KC79,Q9Y2U8,Q96GM5,Q96T58,Q68CP9 19 |
| Hyperammonemia 0.5356117780811237 2.946607975765651 0.0032128022887949 0.9999996391711432 0.0502068425469312 37 O43772,P49411,P11310,P51608,P35610,P23786 6 |
| Cavum septum pellucidum 0.7383682146354 2.83320348384729 0.0046084040243838 0.9999999994348024 0.063662974881812 13 O96028,Q9BYW2,Q69YQ0,Q8ND04 4 |
| Sensory neuropathy 0.523989716271307 2.822042951671945 0.004771878577938 0.9999999997349268 0.0650839060482081 36 P00846,Q9Y6X9,P09651,O15269,Q5T440,P22626,O95831,P54098,P35240 9 |
| Hand oligodactyly 0.9610698365527488 2.812226260102275 0.0049199881337083 0.9999999998665272 0.0669060333227 2 Q6KC79 1 |
| Gastroesophageal reflux 0.3664978184794202 2.7962889641441597 0.0051693158619423 0.999999999957958 0.0694768108558433 129 Q03164,Q12768,Q9H0U9,Q9BYW2,O15269,P29372,P53597,Q6ZXV5,P32322,O96028,P55265,Q96RR1,P49748,P35658,Q9UIG0,Q9UHB7,Q7Z3K3,P82930,P55011,Q9H2P0,Q9UQE7,P18583,P00846,P55795,Q96PU5,P42356,Q9UBM7,Q14739,P46100,Q96JM3,P53007,Q14683,P54098,Q6KC79,Q06787,Q15233,P51608,Q6ZRS2,Q96T58,Q9Y4P3,Q68CP9,Q8WVM7 42 |
| Increased serum lactate 0.3745735889791527 2.7930639643027746 0.0052211366565404 0.9999999999669332 0.0697664927149318 112 Q9BWD1,P49411,Q70HW3,Q9NYY8,P53597,Q96RR1,Q5JTZ9,Q9UBX3,Q9BW92,O43819,O60783,O95831,P82930,P35610,P09622,P00846,O43678,Q15046,Q969Y2,P54098,Q96JX3,O95299,Q9NVI7,P51608,P22695,Q5JPH6 26 |
| Dicarboxylic aciduria 0.5898335309298204 2.786528123033653 0.0053275995054931 0.9999999999798111 0.070778771528309 25 Q16836,P49748,O43772,P11310,P48735,P16219,P53007,P54098,P23786 9 |
| Round face 0.621908580606588 2.7793328515758677 0.0054470678570055 0.9999999999883954 0.0721579966114815 21 Q15022,Q69YQ0,Q03164,Q8WWQ0,Q9UHB7,P02545,P55201,P08754,O75718,Q14683,Q32P28 11 |
| Organic aciduria 0.5069569738866384 2.775513115980731 0.0055114676228351 0.9999999999913904 0.0726207276083448 40 Q16836,P49748,O43772,P36551,Q9H9P8,P11310,Q4G176,P50336,P50747,P48735,P51649,P53597,P16219,P53007,P54098,Q4G0N4,P23786 17 |
| Cardiac arrest 0.5212675851074153 2.775392975258347 0.0055135042652756 0.9999999999914712 0.0726207276083448 35 P49748,O43772,Q02487,Q14126,Q9H0U9,Q9UIG0,P50402,P02545,Q8NC56,Q9NX14,Q99959 11 |
| Abnormal urine ph 0.4947292584710687 2.759648114178613 0.0057863650603515 0.9999999999975928 0.074930176764665 44 P00846,P49748,Q16836,O43772,P36551,Q9H9P8,P11310,Q4G176,P50336,P50747,P48735,P51649,P53597,P16219,P53007,P54098,Q4G0N4,P23786 18 |
| Abnormal eyelash morphology 0.4020045096468988 2.7354654073204063 0.0062292133297612 0.9999999999996914 0.0795475718842085 82 Q9NPE3,P14923,Q15427,Q03164,P20700,P02545,Q6NUK1,O60216,P51532,Q9UHB7,P62304,O14497,Q04721,Q9UQE7,Q9NX14,Q02487,Q8IY17,Q13724,P62266,Q9UBM7,Q96N67,Q13428,Q8TAQ2,Q14683,Q6KC79,Q96GM5,Q4J6C6,Q6ZRS2,Q96T58,O60832,Q68CP9,Q8WVM7 32 |
| Increased serum pyruvate 0.5126387750752478 2.723935120894984 0.0064509177539699 0.9999999999998896 0.0815761333468528 36 Q9BWD1,Q70HW3,O95831,Q9NPL8 4 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3895230181671115 2.6876576414667657 0.0071955128916081 0.9999999999999966 0.085776633333078 90 Q15427,Q03164,Q9ULC3,P53597,P02545,O96028,Q96HY6,Q14669,Q9Y4W2,Q96AY3,Q9UHB7,O95831,Q04721,P55011,P18583,Q9UBM7,Q69YQ0,Q15643,Q14683,Q06787,Q6KC79,Q14839,Q9UGU0,P51608,Q96T58,Q5H8A4 26 |
| Abnormal eyebrow morphology 0.3236175973585913 2.6659724272519423 0.0076765988749634 0.9999999999999996 0.0898201035877699 165 Q9NPE3,P14923,Q15427,Q03164,Q7L2E3,Q92643,Q8WWQ0,Q96F07,P02545,P63000,O14646,O96028,Q6NUK1,Q14669,Q7Z5J4,Q9Y4W2,O60216,P78536,Q9Y4A5,P51532,Q9UHB7,P62304,Q96ST3,O14497,O95831,Q04721,O15078,P55011,Q8WVX9,Q9UQE7,Q02487,Q8IY17,P18583,P62266,Q69YQ0,Q96N67,Q8NB90,P11274,O60341,P34897,Q00839,Q9BRT2,Q8TAQ2,P19022,Q14683,Q6KC79,Q9Y2U8,Q9UGU0,P61978,P98175,Q96GM5,Q9NVI7,Q96T58,P11233,Q8N201,O60281,O60832,Q5H8A4,Q68CP9,Q8WVM7 60 |
| Shallow acetabular fossae 0.92184249628529 2.6469209183051787 0.008122834609906 1.0 0.0940860993760473 2 Q9NUQ7 1 |
| Ureteropelvic junction obstruction 0.920950965824666 2.643127883115097 0.0082144003349515 1.0 0.094908234446433 2 Q9UBM7 1 |
| Premature osteoarthritis 0.9138187221396734 2.612725561558269 0.0089823397959136 1.0 0.1017828673899272 2 Q96HY6 1 |
| Flattened femoral epiphysis 0.9138187221396734 2.612725561558269 0.0089823397959136 1.0 0.1017828673899272 2 Q9NUQ7 1 |
| Abnormality of the nasal tip 0.3665671582981374 2.586264675373433 0.0097022396384254 1.0 0.1059379940036809 101 Q03164,P32322,P38159,P02545,Q8ND04,P23786,Q9Y4W2,O43292,Q9Y4A5,P51532,O00571,O95831,Q7Z3K3,P10586,Q9H2P0,Q9UQE7,Q96N67,O60341,P46100,Q8TAQ2,Q06787,Q9UGU0,P61978,P51608,Q96GM5,Q6ZRS2,Q96T58,Q8N201,O60281,Q68CP9 30 |
| Abnormal circulating fatty acid anion concentration 0.6791775334201943 2.570561906083749 0.0101533678088012 1.0 0.108349596292995 14 P49748,O43772,P11310,P16219,Q4G0N4,P23786 6 |
| Palpitations 0.5896761850636831 2.559025036531508 0.0104966181508316 1.0 0.111753832968439 21 P14923,Q02487,Q14126,P24468,Q9UER7,P46100,P19022,Q96RR1,P54098,Q99959 10 |
| Hand apraxia 0.896879643387816 2.5401058254293982 0.011081893183213 1.0 0.1144524486606597 2 P51608 1 |
| Stooped posture 0.896582466567608 2.538826585145307 0.0111224939262419 1.0 0.1144524486606597 2 P51608 1 |
| Abnormal growth hormone level 0.5125401063119932 2.531810713896529 0.0113475230054873 1.0 0.1162490690117705 30 Q03164,Q9NW13,Q9UHB7,Q14683,Q9H2P0,Q8IY17,Q96LT9 7 |
| Abnormality of the auditory canal 0.5853228664082103 2.528853418746844 0.0114435808696797 1.0 0.1169731880470594 21 P62913,Q15427,P78536,Q9UQE7,Q13428,P55011,O96028,P08754,Q14683,Q6KC79 10 |
| Wormian bones 0.5918631285346139 2.524192772137594 0.0115964318586558 1.0 0.1182733426292116 20 Q14839,P54886,Q96AY3,Q9UHB7,Q9Y487,O95831,Q04721,P02545,Q8NC56,O75718,Q68CP9,Q32P28 12 |
| Long nose 0.7781329910765542 2.515888589482822 0.0118732708575817 1.0 0.1205633891045192 9 Q86W42,Q8NB90,Q9BYW2,Q6ZRS2,Q04721,Q9H490 6 |
| Abnormal circulating carbohydrate concentration 0.4714096802449505 2.5045085886262495 0.012262162813402 1.0 0.1233018227198367 42 Q9BWD1,Q70HW3,O95831,Q9NPL8 4 |
| Abnormal localization of kidney 0.4339709168109713 2.4880957814171887 0.0128429139346351 1.0 0.128429139346351 63 P62913,P61313,P51530,Q7Z5J4,O00459,Q9UIG0,P51532,Q9UHB7,O14497,P18583,Q9BXW9,Q69YQ0,Q9UBM7,Q00839,Q8TAQ2,Q6KC79,Q9Y2U8,Q96GM5,P98175,O60832,Q9Y4P3,Q68CP9,Q8WVM7 23 |
| Hypothermia 0.7346760714856306 2.4664556460253615 0.0136457627199757 1.0 0.1343890016244643 10 P00846,P49748,O43772,P20700,Q9H0U9 5 |
| Rimmed vacuoles 0.6487058304809237 2.462521396615412 0.0137963940727088 1.0 0.1343890016244643 15 P09651,P43243,O14979,P22626,P50402,P02545 6 |
| Constipation 0.3599821053240108 2.4605852320355956 0.0138710620527164 1.0 0.1343890016244643 100 P37268,Q03252,Q03164,P20700,Q9BYW2,Q96RR1,Q7Z5J4,Q9UIG0,Q9UHB7,Q7Z3K3,P82930,P55011,Q9H2P0,P36551,P09543,P55795,Q9UBM7,Q8NB90,O60341,P46100,Q14683,P54098,Q9UGU0,P61978,P51608,Q6ZRS2,Q96T58,Q8N5K1,O60281,Q9Y4P3,Q68CP9 31 |
| Focal motor status epilepticus 0.8784546805349186 2.460452999679842 0.0138761745712028 1.0 0.1343890016244643 2 P54098 1 |
| Abnormality of the diaphragm 0.5111442932468903 2.447460721141858 0.0143866805414019 1.0 0.1370301597021958 29 O60216,Q9UBM7,P24468,Q9Y4A5,Q96ST3,Q7Z3K3,O96028,Q9UQE7,Q9NX14,Q14683,Q68CP9,Q5H8A4,Q6KC79 13 |
| Progressive inability to walk 0.5928501449568591 2.4355505190925757 0.0148691481321963 1.0 0.1396064620965885 19 P00846,P31040,P51608,P55265,Q96RR1,Q14683,Q15043 7 |
| Severe expressive language delay 0.8704309063893019 2.4255495992360725 0.0152852269289045 1.0 0.1417804751353118 2 Q8NB90 1 |
| Decreased activity of mitochondrial complex iv 0.6176261922628312 2.42437620786206 0.0153347104561234 1.0 0.1419538457886126 17 P53597,Q969Y2,Q70HW3,Q5JPH6 4 |
| Thin vermilion border 0.3401485227883687 2.422785019773725 0.015402038301912 1.0 0.1422913758954195 136 Q03164,Q15058,Q8WWQ0,P29372,P32322,P02545,Q96HY6,Q14669,Q9Y4W2,P51532,Q9UHB7,Q04721,Q7Z3K3,P55011,Q9H2P0,Q9UQE7,P18583,Q9H490,P62266,Q69YQ0,O60341,P46100,Q00839,P11166,Q14683,Q6KC79,Q06787,Q15233,Q9Y2U8,Q9UGU0,Q96GM5,P51608,Q6ZRS2,Q96T58,P11233,O60281,Q5H8A4,Q68CP9 38 |
| Pulverulent cataract 0.8680534918276379 2.415182728548312 0.0157273174713092 1.0 0.1448289453144781 2 P08670 1 |
| Congenital diaphragmatic hernia 0.5394943079609068 2.413448121555525 0.0158023773304083 1.0 0.1448289453144781 25 O60216,Q9UBM7,P24468,Q9Y4A5,Q7Z3K3,O96028,Q9UQE7,Q9NX14,Q14683,Q5H8A4,Q6KC79 11 |
| Aplasia of the phalanges of the hand 0.8662704309063897 2.4074000456060776 0.0160665596113076 1.0 0.145800865764032 2 P02545 1 |
| Broad philtrum 0.6822276911597497 2.4008006341419903 0.0163592466324187 1.0 0.1481652789301577 12 Q96GM5,P51532,Q8TAQ2,P11166,Q68CP9 5 |
| Ragged red muscle fibers 0.5727873781809827 2.393092975567282 0.0167070068229624 1.0 0.1507227034322052 20 P00846,Q86U42,Q70HW3,O95831,Q96RR1,Q5JPH6,P54098 7 |
| Abnormal aggressive impulsive or violent behavior 0.3499091576197073 2.388335727050691 0.0169248728407507 1.0 0.151502259797788 109 Q03164,Q9BYW2,Q8WWQ0,P53597,Q8ND04,Q9H936,Q14669,Q7Z5J4,P51649,P51532,Q96ST3,O00571,O14497,Q8NI27,Q7Z3K3,Q9H2P0,Q8WYQ5,P55795,Q9UBM7,P29218,Q8NB90,P46100,P51572,Q9BRT2,Q8TAQ2,Q96JM3,P19022,P11166,Q6KC79,Q06787,Q15233,Q9UGU0,Q96GM5,P51608,P30038,Q6ZRS2,Q96T58,Q68CP9,O14936 39 |
| Calvarial skull defect 0.7505730732926721 2.3809276183270627 0.0172691047927591 1.0 0.1534378642949976 9 O96028,Q14739,Q14692 3 |
| Decreased activity of mitochondrial complex i 0.4736342407169066 2.3790549509152994 0.0173570882832088 1.0 0.1534378642949976 36 Q9UBX3,Q5T440,Q70HW3,Q5JPH6,P53597,Q969Y2,Q9NPL8 7 |
| Oral aversion 0.7498746116808552 2.3774796954351274 0.0174314026389499 1.0 0.1536496485001131 9 Q96GM5,P51532,Q8TAQ2,P35610,Q68CP9 5 |
| Anterior pituitary dysgenesis 0.857949479940565 2.370995621231888 0.0177402412568041 1.0 0.1557762137026043 2 Q9NW13 1 |
| Gynecomastia 0.5686397682689959 2.364341018228737 0.018062177841702 1.0 0.15800121413709 20 Q9NW13,P51608,Q8WWQ0,Q9UHB7,Q06787 5 |
| Hematemesis 0.8546805349182767 2.3566555306894643 0.0184403437241673 1.0 0.1587006515522768 2 P46100 1 |
| Abnormal bowel sounds 0.8546805349182767 2.3566555306894643 0.0184403437241673 1.0 0.1587006515522768 2 P46100 1 |
| Zollinger ellison syndrome 0.8546805349182767 2.3566555306894643 0.0184403437241673 1.0 0.1587006515522768 2 P46100 1 |
| Protracted diarrhea 0.8546805349182767 2.3566555306894643 0.0184403437241673 1.0 0.1587006515522768 2 P46100 1 |
| Abnormal right ventricular function 0.8546805349182767 2.3566555306894643 0.0184403437241673 1.0 0.1587006515522768 2 P46100 1 |
| Decreased plasma carnitine 0.674225503777782 2.3564215847497274 0.0184519629570543 1.0 0.1587006515522768 12 P49748,O43772,P11310,Q4G0N4,P23786 5 |
| Urethral valve 0.8534918276374447 2.351435597248965 0.0187011266800611 1.0 0.1602457137455057 2 Q9BYW2 1 |
| Congenital posterior urethral valve 0.8534918276374447 2.351435597248965 0.0187011266800611 1.0 0.1602457137455057 2 Q9BYW2 1 |
| Sclerocornea 0.6400067694032838 2.3414978722732247 0.0192065354350974 1.0 0.1630610098633501 14 Q9P273,Q9UBM7,O15078,Q96J42,O96028,Q9NX14,Q5H8A4 7 |
| Abnormal thalamic mri signal intensity 0.7376094603181195 2.3167109714474803 0.0205194815165605 1.0 0.1683181668885129 9 Q96RR1,P54098,Q969Y2,P35240 4 |
| Limited elbow movement 0.4678372221060526 2.3066993356483185 0.021071587323 1.0 0.1707205932496139 35 P37268,Q8WVM7,Q14807,Q15427,O60568,P54886,Q96AY3,Q02809,P32322,P50402,P02545,Q9UQE7,Q8WXH0,Q14683,Q6KC79,P23786 16 |
| Hypopituitarism 0.4623577442085115 2.2979051915217035 0.0215671857559054 1.0 0.1738194516341329 37 Q03164,Q9NW13,Q8WWQ0,Q9UHB7,Q14683,Q9H2P0,Q8IY17,Q96LT9 8 |
| Extrapyramidal dyskinesia 0.9477140039319862 2.289094138500092 0.0220738833218203 1.0 0.1762454511886456 3 P35610 1 |
| Aggressive behavior 0.3715085643110934 2.28847437422163 0.0221099107750961 1.0 0.1762454511886456 79 Q03164,Q9BYW2,Q8WWQ0,P53597,Q14669,P51649,P51532,O00571,Q7Z3K3,Q9H2P0,P55795,Q9UBM7,P29218,P51572,Q9BRT2,Q8TAQ2,P11166,Q06787,Q15233,Q9UGU0,Q96GM5,P51608,P30038,Q6ZRS2,Q96T58,Q68CP9 26 |
| Narrow palpebral fissure 0.5691995886594536 2.276002766754742 0.0228458440188865 1.0 0.179419660863828 19 Q14669,Q03164,Q96T58,P38159,Q8N201,Q9H2P0,Q68CP9 7 |
| Abnormal coronary sinus morphology 0.8356612184249633 2.272795152992876 0.0230385272758779 1.0 0.1805436931512596 2 Q8ND04 1 |
| Phocomelia 0.9434109065559756 2.272318236012163 0.0230672961531652 1.0 0.1805436931512596 3 Q6KC79 1 |
| Generalized amyotrophy 0.5199429551948936 2.2644824204959155 0.0235444597795404 1.0 0.1828185835923804 25 Q9Y2U8,Q03252,P09651,O43819,Q9NW13,P22626,Q99567,P51530,P02545,Q8IY17,P54098 11 |
| Abnormality of the forearm 0.4397896369913446 2.2642908174860663 0.0235562339813175 1.0 0.1828185835923804 48 Q9Y4P3,Q14807,Q15427,Q9BXW9,Q9UBM7,P98175,Q15643,Q9UIG0,Q6ZRS2,Q96AY3,Q9UHB7,O75367,Q04721,O96028,Q9UQE7,Q14683,Q6KC79,Q32P28 18 |
| Loss of ability to walk 0.6364450117095287 2.2571630089320847 0.0239978908971234 1.0 0.1850432448518661 13 P00846,P51608,P55265,Q96RR1,Q14683 5 |
| Prominent eyelashes 0.7563493282285048 2.253515937999356 0.0242266369576169 1.0 0.1861413272910236 8 P20700,Q96GM5,P51532,Q8TAQ2,Q68CP9 5 |
| Eeg with frontal epileptiform discharges 0.8279346210995547 2.2385199156143516 0.0251871701618915 1.0 0.189726886350196 2 Q8NB90 1 |
| Aplasia cutis congenita of scalp 0.7817194237611165 2.2257211670680888 0.0260328640397879 1.0 0.1938796497955131 7 O96028,Q14692 2 |
| Abnormality of skeletal maturation 0.3544092619443763 2.214358086808305 0.0268041557193614 1.0 0.1967629902328922 92 Q03164,Q9BYW2,Q8WWQ0,Q01831,O96028,P10412,Q9NW13,Q9UIG0,P51532,O95831,Q96LT9,Q15022,P46100,Q14683,Q06787,Q6KC79,Q96GM5,P51608,Q5H8A4 19 |
| Sudden death 0.4884011770675337 2.1940560118149066 0.0282313830752107 1.0 0.2056029636283123 28 P14923,P49748,Q14126,Q9UIG0,P50402,P02545,Q8NC56,Q02487,Q9Y4P3,Q99959,Q8WXH0 11 |
| Exercise induced myalgia 0.6634418919529907 2.1902617324854066 0.0285052604425006 1.0 0.2065854586415821 11 P49748,P11310,P43243,P23786 4 |
| Hypoplastic fifth toenail 0.7422853952261665 2.1858509380057387 0.0288265126670694 1.0 0.2076409740549848 8 Q96GM5,Q8TAQ2,Q68CP9,P51532 4 |
| Tracheal stenosis 0.8586271042270295 2.1818180005700407 0.029122967534386 1.0 0.209449111284742 5 Q9UHB7,Q9UBM7 2 |
| Lactic acidosis 0.3496066214907029 2.177592155608907 0.0294364140794363 1.0 0.209743762354636 94 P31040,P49411,P11177,Q15031,Q70HW3,O75251,O75879,P53597,Q4G0N4,Q5JTZ9,Q99797,O43819,O60783,Q9Y2R9,P82930,P09622,Q9NX14,Q9NPL8,O75648,Q5U5X0,Q7L0Y3,Q5T440,Q969Y2,P54098,Q16836,Q96JX3,O95299,Q4J6C6,P08559,P10515,Q8NI60,Q5JPH6,Q9BU61 33 |
| Abnormal circulating acetylcarnitine concentration 0.7700129003772714 2.171588878810972 0.0298866866087141 1.0 0.2116399773673923 7 O43772,P16219,P23786 3 |
| Aplastic hypoplastic toenail 0.4479993162626624 2.165732741518212 0.0303316155487913 1.0 0.2141328448390938 37 Q9NPE3,P14923,Q15022,P11274,Q14739,O60341,Q9UIG0,Q96GM5,P51532,O75530,Q9UHB7,Q8TAQ2,O14497,O60832,Q9Y4P3,Q68CP9,P23786 17 |
| Abnormal temper tantrums 0.7369633163611462 2.1601149315224104 0.0307637733963532 1.0 0.2148159674047336 8 Q9BVA1,Q06787,Q9H2P0 3 |
| Flattened epiphysis 0.9140903686087968 2.1572357301621103 0.0309873018127611 1.0 0.2154622343240252 3 Q9NUQ7,O95831 2 |
| Extra axial cerebrospinal fluid accumulation 0.8089153046062412 2.1536470823331153 0.031267858987892 1.0 0.2164336785798536 2 P20700 1 |
| Abnormal tracheal morphology 0.446541819039237 2.1522262470646125 0.031379539364023 1.0 0.2168802564353759 37 Q9NPE3,Q14807,Q9BXW9,P55011,Q69YQ0,Q9UBM7,Q14739,Q9UIG0,Q13428,Q9UHB7,P63000,O60832,Q9Y4P3,Q96HY6 14 |
| Limb dysmetria 0.8083209509658251 2.150983390633036 0.0314775106872775 1.0 0.2168802564353759 2 P54098 1 |
| Amblyopia 0.5737673547125487 2.1423884752170848 0.0321622345130965 1.0 0.2203089169470653 17 P10412,Q96TA2,Q9UHB7,Q9H2P0,P35240 5 |
| Blepharitis 0.5729184614213811 2.136847561349574 0.0326103922745397 1.0 0.2220083831652121 17 Q9NPE3,P04080,O60216,P78536,Q9NX24,Q9UQE7,Q01831,P06748,O60832,Q14683,Q6KC79 11 |
| Lack of peer relationships 0.8935523794622722 2.135935631058307 0.0326846608407822 1.0 0.2220083831652121 4 P11166 1 |
| Recurrent fractures 0.4559728478209539 2.135880699777134 0.0326891391240466 1.0 0.2220083831652121 33 Q9NPE3,Q13724,Q9Y2U8,Q15643,Q13126,Q8WWQ0,P48735,Q96AY3,P32322,Q04721,O60832,O75718,Q8N1G0,Q32P28 14 |
| Spinal cord lesion 0.7015769285183964 2.135756303875906 0.0326992824661993 1.0 0.2220083831652121 9 Q9Y2U8,Q12768,O60341,Q9BYW2,Q04721 5 |
| Increased body weight 0.3337383431310494 2.1332347763837096 0.0329054716527366 1.0 0.2230797416457584 112 Q9ULC3,Q9BYW2,Q8WWQ0,O43395,P50402,P38159,P02545,Q8WWY3,Q14669,P49748,Q9Y4W2,Q7Z5J4,O60216,Q9UIG0,Q9UHB7,Q96ST3,O15078,Q8NI27,Q7Z3K3,Q9H2P0,O94906,Q9UQE7,Q8IY17,Q96LT9,O60318,P17252,O75787,P46100,Q9ULH0,Q14683,Q6KC79,Q06787,P40818,P35240,Q5JRA6,O43172,Q9UGU0,O43837,P51608,O75695,Q96T58,Q6P2Q9,Q8WXH0,Q92560,Q9Y4P3,Q9BTV4 46 |
| Abnormality of thalamus morphology 0.5482354441739883 2.132314328475905 0.0329810149174552 1.0 0.2232635517907026 19 P35240,Q969Y2,Q96RR1,P11166,P54098,P02792 6 |
| Thin upper lip vermilion 0.3356873726970591 2.1273299502874794 0.0333926779255926 1.0 0.2251413408892134 102 Q03164,Q15058,Q92643,P29372,Q6NUK1,Q7Z5J4,Q9Y4W2,O60216,Q9Y4A5,P51532,Q9UHB7,O14497,Q7Z3K3,Q8WVX9,Q9H2P0,Q9UQE7,Q9H490,Q69YQ0,P11274,O60341,P46100,Q8TAQ2,P19022,P11166,Q14683,Q6KC79,Q15233,Q9UGU0,Q96GM5,P51608,Q96T58,P11233,O60281,Q5H8A4,Q68CP9 35 |
| Abnormal circulating fatty acid concentration 0.5276763910357567 2.119910787789353 0.0340135694699892 1.0 0.2269772469767819 21 P49748,O43772,P11310,P16219,Q4G0N4,P23786 6 |
| Papillary thyroid carcinoma 0.6984358442570177 2.119811215173838 0.0340219691238516 1.0 0.2269772469767819 9 Q96GM5,Q8TAQ2,Q68CP9,P51532 4 |
| Thick nasal alae 0.6097523793002818 2.099947224435292 0.035733483901134 1.0 0.2363434157592942 13 Q96GM5,P51532,Q8TAQ2,P11166,Q68CP9 5 |
| Abnormality of upper limb joint 0.3310025955235913 2.0979151800351623 0.0359126388014161 1.0 0.2368917917970498 115 P37268,Q15427,Q03164,Q9ULC3,Q9BYW2,P32322,P50402,P02545,O96028,P23786,Q14807,Q9UIG0,Q96AY3,O75367,O95831,Q04721,Q15022,Q9Y6X9,Q15643,Q14683,Q6KC79,Q15233,P51608,Q6ZRS2,Q96T58,Q9NUQ7,Q8WVM7 27 |
| Sparse eyelashes 0.5551333769610102 2.0966543560903 0.0360241837776673 1.0 0.2368917917970498 18 Q15427,Q13428,P62304,P02545,O60832,Q02487 6 |
| True hermaphroditism 0.7946508172362563 2.089530292399419 0.0366600140389321 1.0 0.237588997531216 2 Q96J42 1 |
| Lobar holoprosencephaly 0.7946508172362563 2.089530292399419 0.0366600140389321 1.0 0.237588997531216 2 Q96J42 1 |
| Urethral atresia 0.7946508172362563 2.089530292399419 0.0366600140389321 1.0 0.237588997531216 2 Q96J42 1 |
| Abnormality of the extraocular muscles 0.8968489892984528 2.0889420014344173 0.0367129443689602 1.0 0.237588997531216 3 Q9BVA1,P43243 2 |
| Left ventricular systolic dysfunction 0.7513915892812797 2.08483612642323 0.0370841782154669 1.0 0.2384352323198084 7 P49748,Q969Y2,P54098,P02545 4 |
| Ventricular arrhythmia 0.4300367454812076 2.083773129294634 0.0371808086347507 1.0 0.2387235763317559 41 P14923,Q14126,P50402,P02545,Q96RR1,P23786,P49748,O43772,O60783,P50336,Q02487,Q9NX14,Q99959,P36551,P00846,P19022,Q969Y2,P54098,Q8WXH0 19 |
| Small intestinal dysmotility 0.791976225854384 2.0774650393586684 0.03775865873053 1.0 0.2390623991446278 2 P54098 1 |
| Hypoplastic fifth fingernail 0.749682647860468 2.076835172188282 0.0378167747517121 1.0 0.2390623991446278 7 Q96GM5,Q8TAQ2,Q68CP9,P51532 4 |
| Tetralogy of fallot 0.423291114418815 2.0709989521217027 0.0383588939820627 1.0 0.2402642680126482 44 P62913,Q15427,Q9BXW9,Q12768,Q69YQ0,Q9ULC3,Q14839,P24468,Q96GM5,Q9UIG0,P98175,P51532,Q6ZRS2,Q96T58,Q8TAQ2,Q04721,Q9Y4P3,Q68CP9 18 |
| Proximal upper limb amyotrophy 0.7179515446860909 2.0676010178695754 0.0386775562960857 1.0 0.2407656294105966 8 Q9Y6X9,O14979,P50402,P02545,Q8WXH0 5 |
| Abnormality of the musculature of the upper arm 0.7179515446860909 2.0676010178695754 0.0386775562960857 1.0 0.2407656294105966 8 Q9Y6X9,O14979,P50402,P02545,Q8WXH0 5 |
| Delayed ossification of carpal bones 0.8891616722927393 2.058346820115199 0.039556852754744 1.0 0.2441192653271355 3 Q9NUQ7 1 |
| Abnormal renal echogenicity 0.7875185735512638 2.057326228696851 0.0396548560170848 1.0 0.2443969067363117 2 Q15058 1 |
| Long eyelashes 0.4282736328337387 2.0437181895663117 0.0409813952081166 1.0 0.2502307707409504 40 Q13724,P62266,Q03164,Q96N67,Q4J6C6,P51532,Q6ZRS2,Q9UHB7,Q96T58,Q8TAQ2,O14497,Q04721,Q14683,Q9UQE7,Q8IY17,Q6NUK1,Q8WVM7,Q6KC79 18 |
| Auditory hallucinations 0.7842496285289755 2.042534047171871 0.0410985856990913 1.0 0.2506143916307022 2 P18583 1 |
| Exodeviation 0.4908817687301492 2.038911992384755 0.0414588118099554 1.0 0.2511854455113549 25 P55795,O43819,Q8NB90,P46100,Q9UHB7,P82930,Q9H2P0,P18583,Q15233 9 |
| Multiple rib fractures 0.7830609212481432 2.037150125326968 0.0416350000749587 1.0 0.2511854455113549 2 Q15643 1 |
| Hypoketotic hypoglycemia 0.7405392525386001 2.033916267499765 0.0419600384971547 1.0 0.2512152954180306 7 P49748,O43772,P23786 3 |
| Gastrostomy tube feeding in infancy 0.431512305985825 2.0318492292639805 0.0421689216729972 1.0 0.2521384291991145 38 P37268,Q99720,Q8NB90,O15121,Q9UHB7,Q96JM3,Q9H2P0,Q14683,Q9H490 9 |
| Telecanthus 0.4244580225567355 2.029640320939149 0.0423931132214494 1.0 0.2524693413040985 41 Q69YQ0,P10412,Q03164,Q9ULC3,Q96N67,O00459,P46100,Q9Y3B2,P29372,Q00839,P02545,Q9H490 12 |
| Ventricular tachycardia 0.5867485937052347 2.020557699241959 0.0433255715559706 1.0 0.2554103387123075 14 P14923,P49748,O43772,Q14126,P19022,Q9NX14,Q99959,P23786 8 |
| Short upper lip 0.8197850993526528 2.0178375109049607 0.0436081868281128 1.0 0.2557681186737916 5 P46100 1 |
| Severe postnatal growth retardation 0.6140058170693058 2.015329033717528 0.0438701847453018 1.0 0.2563111413625393 12 O60216,O76024,O96028,Q9UQE7,Q14683,Q6KC79 6 |
| Intellectual disability progressive 0.5857982399580136 2.0147331525784757 0.0439326165449622 1.0 0.2563111413625393 14 Q9H9P8,P51608,P46100,Q01831,O95831,Q9NX14 6 |
| Aplasia hypoplasia of the extremities 0.2906572599299399 2.0142931346796 0.0439787663379107 1.0 0.2563111413625393 186 P62913,Q15427,Q03252,Q03164,Q9ULC3,P48735,P53597,P61313,P02545,P63000,O96028,Q9H936,Q6NUK1,Q96HY6,Q14669,Q7Z5J4,Q9Y4W2,Q14807,O60216,Q9Y4A5,P51532,Q96AY3,Q9UHB7,Q96ST3,O75367,O14497,O95831,Q04721,P55011,Q9H2P0,Q9UQE7,P18583,Q32P28,Q9BXW9,Q9UBM7,Q69YQ0,P11274,O60341,Q15643,Q14739,P17252,Q8TAQ2,Q96A33,O75718,Q14683,Q6KC79,Q06787,Q5JRA6,O00116,Q14839,Q9UGU0,Q96GM5,P98175,P51608,P50454,P54886,Q6ZRS2,Q96T58,Q5H8A4,Q68CP9,O14936 61 |
| Abnormal corpus striatum morphology 0.5538372372491347 2.011486156103859 0.0442741311462755 1.0 0.2577067482125382 17 P00846,O43819,P49792,O95831,Q9BVA1,P55265,P02792,Q9BU61 8 |
| Abnormality of the upper arm 0.5118859886331524 2.0048864755412583 0.0449751848814086 1.0 0.2614572538503073 21 Q9Y6X9,O00116,Q6ZRS2,P53597,O14979,O75367,P50402,P02545,Q8WXH0 9 |
| Pancreatic cysts 0.7760449940936531 2.003410362939122 0.0451332600655773 1.0 0.2620457542850274 6 Q9NQH7 1 |
| Abnormality of the urethra 0.3142572778370723 2.0023589525598857 0.0452461398130157 1.0 0.2623706975320786 140 Q9NPE3,P37268,P62913,Q12768,Q9BYW2,P29372,P53597,P61313,Q96J42,P63000,Q8ND04,P02545,O96028,Q9UBX3,P24468,Q9UIG0,P51532,Q9UHB7,O14497,O15078,Q04721,Q9UQE7,Q9NX14,Q8IY17,Q9BXW9,Q9UBM7,Q86W42,Q69YQ0,O60341,O75787,P46100,Q8TAQ2,Q14683,Q6KC79,Q96GM5,P51608,Q6ZRS2,Q96T58,Q5H8A4,O60832,Q9Y4P3,Q68CP9 42 |
| Sudden episodic apnea 0.8602438299137498 2.001665053124229 0.0453207673615658 1.0 0.2623826117751828 4 P51608,Q14683,O43772 3 |
| Aplasia hypoplasia of the cerebellum 0.3106041785173954 2.0012818332602342 0.0453620263741476 1.0 0.2623826117751828 145 Q12768,P20700,Q15058,P00374,Q9Y4I1,Q9BYW2,Q96J42,P63000,O96028,Q9Y4W6,Q6NUK1,O60508,P23786,O60216,Q9H9P8,O43292,Q9Y4A5,Q96TA2,P51532,Q9Y3B2,O14497,O15078,Q8NFH4,Q8NI27,Q9UQE7,P18583,Q9H490,P55795,P42356,Q9UBM7,Q69YQ0,Q8TAQ2,Q9ULH0,Q9BVA1,P53007,Q14683,Q6KC79,Q15233,Q96GM5,P98175,Q9NVI7,Q99567,Q8N201,O60281,P07942,O60832,Q5H8A4,Q68CP9,O14936 49 |
| Increased arm span 0.7741456166419027 1.9966874237482053 0.0458591491501292 1.0 0.2642815618888048 2 Q9BYW2 1 |
| Abnormal arm span 0.7741456166419027 1.9966874237482053 0.0458591491501292 1.0 0.2642815618888048 2 Q9BYW2 1 |
| Poor appetite 0.5826078910856388 1.9951556939355104 0.0460259016167121 1.0 0.2647414247369995 14 Q9UER7,P54098,Q70HW3,P46100 4 |
| Aplasia hypoplasia involving bones of the feet 0.373294123761901 1.9933467813424683 0.046223487080786 1.0 0.2648640267984919 70 Q15427,Q03164,Q9ULC3,P02545,O96028,Q14669,Q9Y4W2,Q04721,P55011,P18583,Q69YQ0,Q9UBM7,Q15643,Q14683,Q06787,Q6KC79,Q9UGU0,P51608,Q96T58,Q5H8A4 20 |
| Abnormal circulating hormone concentration 0.3371564948860568 1.9892198714415632 0.0466769394825374 1.0 0.2663127364040814 94 P31040,Q03164,Q12768,O14654,Q15031,Q8WWQ0,O43395,P02545,Q8WWY3,P24468,Q9NW13,Q9UHB7,Q96ST3,Q8NI27,Q9H2P0,O94906,Q8IY17,Q96LT9,P17252,P00367,P46100,Q14683,Q06787,Q9UJA3,P40818,P35240,Q16836,O43172,O43837,O75695,P51608,Q4J6C6,Q9UER7,Q6P2Q9,Q92560 35 |
| Irregular femoral epiphysis 0.7717682020802384 1.9858727850484348 0.0470474512977254 1.0 0.2671043725154118 2 Q9NUQ7 1 |
| Abnormal conjugate eye movement 0.278091298028192 1.9845892357095705 0.0471901909285821 1.0 0.2675852154744939 328 Q03164,P20700,P53597,Q01831,Q9NQT5,Q14669,Q99720,O43819,Q9UHB7,P82930,P55011,Q9UQE7,Q9NX14,Q9NPL8,P55795,Q9UBM7,Q8NB90,O60341,O43678,Q13428,Q8TAQ2,P11166,Q6KC79,O95299,Q9UGU0,P30038,Q96T58,O60281,O60832,Q9Y4P3,Q9P273,Q9Y4I1,Q8WWQ0,P61313,Q8ND04,Q7Z5J4,Q9H9P8,Q15067,P51532,O00571,O14497,O15078,Q9H2P0,P55201,Q96PU5,Q15643,P46100,Q9NZJ7,Q9ULH0,Q96JM3,P19022,Q06787,Q9Y2U8,Q13148,Q8N201,Q15334,O14936,P31040,P62913,Q15058,Q9BYW2,O96028,Q9H936,Q6NUK1,O14974,Q14807,O60216,P10412,O00567,P24928,Q9UIG0,Q96ST3,Q8NI27,Q8IY17,Q9H9Y6,Q9H490,Q69YQ0,O60318,Q14739,P34897,P51572,Q00839,Q9BVA1,Q14683,P54098,Q96GM5,Q5H8A4,Q68CP9,Q8WVM7,Q96RR1,Q96TA2,Q9Y3B2,Q7Z3K3,P18583,P02792,Q9BXW9,P53007,Q15233,Q9NVI7,Q6ZRS2,Q7L2E3 101 |
| Abnormality of carpal bone ossification 0.7715945280566228 1.983486273760004 0.0473131387945411 1.0 0.2679527885047108 6 Q9NUQ7,Q15643 2 |
| Abnormal number of permanent teeth 0.8696530624806713 1.980309655318961 0.0476687445305965 1.0 0.2683185742198414 3 Q12959 1 |
| Scrotal hypoplasia 0.5141680891837154 1.9786395688930984 0.0478566012934291 1.0 0.269047478003303 20 Q9UBM7,Q9H0U9,P46100,Q13428,Q8TCJ2 5 |
| Abnormal penis morphology 0.290626024227455 1.973206123891294 0.0484720830608684 1.0 0.2705282117561788 200 Q9NP72,P29372,P53597,Q9NX24,P50213,O43505,O60885,Q9UBX3,P61353,Q9UHB7,P62847,Q04721,Q9UQE7,Q9NX14,Q9UBM7,O60341,O75787,Q13428,Q8TAQ2,Q6KC79,P51608,Q96T58,O60832,Q9Y4P3,Q9NPE3,Q03252,Q12768,Q8WWQ0,P61313,P63000,Q8ND04,P55265,Q8WWY3,Q9Y4A5,P51532,O14497,O15078,O94906,Q86W42,P46100,Q15046,P19022,Q8TCJ2,Q9H7N4,O14936,P37268,P62913,Q9H0U9,Q9BYW2,P02545,O96028,Q9H936,Q6NUK1,O14974,O60216,Q9UIG0,Q96ST3,Q8NI27,Q8IY17,Q9H9Y6,Q15022,Q69YQ0,Q14683,O43172,O43837,Q96GM5,O75695,O75530,Q07020,Q6P2Q9,Q5H8A4,Q68CP9,O43395,P06748,P09471,Q9Y6N7,Q96GM8,Q8IY37,O75845,O96011,Q9BXW9,Q96PY6,Q9Y3Z3,Q14839,Q9NVI7,Q6ZRS2,O95470,P21333,P46777 89 |
| Sensory axonal neuropathy 0.5688600193871466 1.971571667197298 0.0486585242262709 1.0 0.2705860032365609 15 Q9Y6X9,P09651,P22626,O95831,P54098 5 |
| Amyotrophic lateral sclerosis 0.5474581379825775 1.9692339087950752 0.0489262366963474 1.0 0.2717469291206767 17 Q92804,P43243,Q99720,P09651 4 |
| Hyperventilation 0.7671383513133936 1.963498422530057 0.0495882875973574 1.0 0.2722300291080403 6 P00846,P11166 2 |
| Goiter 0.6954449439608179 1.9569314545722287 0.0503555278269574 1.0 0.27472069027488 8 P54098,P48735 2 |
| Elbow flexion contracture 0.4732391131229291 1.9525196103689175 0.050876545024151 1.0 0.2754170061208621 26 P37268,Q14807,O60568,P54886,Q96AY3,Q02809,P32322,P50402,P02545,Q8WXH0,Q6KC79,P23786 12 |
| Abnormality of periauricular region 0.4798258559316747 1.9518363042495284 0.0509576425352145 1.0 0.2754170061208621 25 Q15427,Q69YQ0,Q12768,Q9ULC3,P61978,Q13428,Q00839,O96028 8 |
| Short clavicles 0.6364812394897948 1.9495599232291123 0.0512285940456849 1.0 0.2754170061208621 10 Q15643,P02545,Q6ZRS2,Q14839 4 |
| Absent nipple 0.7637444279346218 1.9492981904601805 0.0512598245665292 1.0 0.2754170061208621 2 P10586 1 |
| Upper eyelid coloboma 0.7637444279346218 1.9492981904601805 0.0512598245665292 1.0 0.2754170061208621 2 Q13428 1 |
| Connective tissue nevi 0.7637444279346217 1.9492981904601805 0.0512598245665292 1.0 0.2754170061208621 2 Q9Y2U8 1 |
| Chondrosarcoma 0.8616289732740943 1.9480517429058128 0.051408772170562 1.0 0.2758874798819432 3 P48735 1 |
| Abnormality of circulating leptin level 0.8615079810281339 1.947564636117386 0.0514670786764579 1.0 0.2758874798819432 3 P51608 1 |
| Abnormal middle phalanx morphology of the hand 0.6928435121601352 1.9440610186330023 0.051888093302177 1.0 0.2778212661127016 8 Q9ULC3,Q03164,P02545 3 |
| Intestinal malrotation 0.443118350788245 1.9402289549850709 0.052351871083079 1.0 0.279979264145005 30 Q9Y2U8,Q9UBM7,Q14739,Q00839,Q04721,P55011,O96028,Q9UQE7,Q14683,Q6KC79 10 |
| Aplasia hypoplasia of the radius 0.5427815107013221 1.9381514814315084 0.0526047441343799 1.0 0.2808774016330227 17 Q15427,Q9UBM7,Q15643,Q96AY3,Q9UHB7,O75367,Q6KC79 7 |
| Abnormal oral physiology 0.3954526764689166 1.935430609021452 0.0529374762026779 1.0 0.2811975389166842 58 Q03252,Q02241,P06748,P09651,Q92804,P51610,P55011,Q9H2P0,P08754,P55795,P42356,Q14739,O75787,P34897,P50995,P46100,Q96PY6,Q8TD30,Q9BVA1,Q14980,Q9BZI7,Q15233,Q13148,P51608,P43243,Q13228,Q96T58,Q6UN15 28 |
| Hip pain 0.8003667175402644 1.93486673618506 0.0530066510452491 1.0 0.2811975389166842 5 P09651,P02545 2 |
| Brachydactyly 0.3462429572159936 1.9313056486205529 0.0534452652634391 1.0 0.2822252839226284 78 Q12768,Q9ULC3,P02545,Q92925,Q06136,Q7Z5J4,Q9UHB7,O75367,O95831,Q04721,Q7Z3K3,Q9H2P0,Q9UQE7,Q8IY17,Q9UBM7,Q69YQ0,Q14739,O60341,Q15643,P46100,P11166,Q14683,Q6ZRS2,Q96T58,Q68CP9 25 |
| Prolonged bleeding following procedure 0.7592867756315014 1.9289295341700097 0.0537396107432726 1.0 0.2834549262316781 2 Q02241 1 |
| Inappropriate antidiuretic hormone secretion 0.7589895988112936 1.927570384066426 0.0539085855723906 1.0 0.2837305246900612 2 Q13724 1 |
| Morphological abnormality of the pyramidal tract 0.4893380700751523 1.9272512894289624 0.0539483208786941 1.0 0.2837305246900612 23 P00846,Q7Z5J4,Q12768,Q9H9P8,Q9UIG0,O95831,P11166,Q9Y4P3 8 |
| Carcinoid tumor 0.8549346016646817 1.921069677431661 0.0547229237891719 1.0 0.2850120814213999 3 P46100,P02545 2 |
| Pulmonary carcinoid tumor 0.8549346016646817 1.921069677431661 0.0547229237891719 1.0 0.2850120814213999 3 P46100,P02545 2 |
| Increased serum serotonin 0.8549346016646807 1.9210696774316571 0.0547229237891724 1.0 0.2850120814213999 3 P51608,P46100 2 |
| Conspicuously happy disposition 0.7575037147102534 1.920772324388532 0.0547604170063611 1.0 0.2850120814213999 2 P55795 1 |
| Abnormal eating behavior 0.4822085548812229 1.9200805201258888 0.0548477294452811 1.0 0.2850120814213999 24 Q96GM5,Q9BYW2,P53007,P51532,Q96T58,Q8TAQ2,O14497,Q9H2P0,P35610,Q68CP9 10 |
| Spondyloepimetaphyseal dysplasia 0.7572729867364931 1.9191137580245303 0.0549699386796702 1.0 0.2850120814213999 6 O95831,Q96HY6 2 |
| Gray matter heterotopia 0.4399493386366122 1.9124447222090448 0.0558191763769082 1.0 0.2873290630418416 30 Q96PU5,Q9UBM7,Q15058,P61978,Q96T58,Q6ZXV5,P07942,P19022,Q9BVA1,O60281,Q6NUK1,Q06787 12 |
| Abnormal head movements 0.6130624753702621 1.9110510672601408 0.0559980185836486 1.0 0.2877936072136233 11 P11166,Q99720,Q06787 3 |
| Multiple enchondromatosis 0.7552909895436268 1.9101746154110657 0.0561107344037594 1.0 0.2878713218831115 6 P48735 1 |
| Functional abnormality of the middle ear 0.3319141770176247 1.9092942162687567 0.056224148006619 1.0 0.2879874076080775 94 P31040,Q15427,Q9ULC3,Q9BYW2,O43395,P02545,O96028,Q8WWY3,Q6NUK1,Q14669,Q7Z5J4,O60216,Q9UHB7,O95831,Q04721,P55011,O94906,Q9UQE7,Q9H9Y6,P62266,Q69YQ0,Q13428,Q12959,Q14683,Q6KC79,O43172,Q9UGU0,P61978,O43837,O75695,Q6ZRS2,Q96T58,Q68CP9 33 |
| Abnormal number of teeth 0.3441035722895047 1.9088177342494204 0.0562856082982381 1.0 0.2879874076080775 79 Q9NPE3,P20700,Q9ULC3,Q9BYW2,Q8WWQ0,P02545,Q8NC56,O96028,Q8ND04,Q9NW13,Q9UIG0,P62266,Q9UBM7,Q13428,Q12959,Q14683,Q9Y2U8,P61978,Q6ZRS2,Q5H8A4,O60832,Q9Y4P3 22 |
| Abnormality of the frontal hairline 0.3514182346744662 1.9048261904041308 0.0568026682160232 1.0 0.2890290292228112 75 P62913,Q9BYW2,Q92643,P29372,P61313,O96028,Q6NUK1,O60216,P51532,Q96ST3,O14497,O95831,Q04721,Q9H2P0,Q9UQE7,P36551,Q86W42,Q69YQ0,Q96N67,O60341,Q13428,Q8TAQ2,O60934,Q14683,Q6KC79,Q96GM5,Q96T58,Q5H8A4,Q68CP9 29 |
| Postnatal growth retardation 0.3785694261262623 1.900715130112094 0.0573393356788212 1.0 0.290477293933369 65 P26373,Q12768,Q03164,Q9NP72,O76024,P02545,O14646,O96028,O60885,O60216,P51532,Q9Y487,Q96ST3,O14497,Q9UQE7,P11171,Q96LT9,O60568,P46100,Q8TAQ2,P11166,Q14683,Q6KC79,Q96GM5,P54886,P21333,P29992,Q68CP9,O14936 29 |
| Hip subluxation 0.6835471978829233 1.897937692950644 0.0577042902830216 1.0 0.2916850638209754 8 Q14807,Q03252,Q9UBM7,Q9UHB7,Q8NI27 5 |
| Abnormal cardiac atrium morphology 0.3002882177635682 1.8955267481256368 0.0580226515225752 1.0 0.2924910259414737 151 P62913,Q12768,P20700,Q9ULC3,Q9BYW2,P53597,P61313,P02545,P63000,Q8ND04,O96028,P49748,Q7Z5J4,P24468,O00459,Q9Y4A5,Q9UIG0,P51532,Q9UHB7,O14497,O15078,Q04721,Q9UQE7,Q9NX14,P18583,Q13724,P55795,Q9BXW9,Q9UBM7,Q69YQ0,Q8NB90,O60341,Q8TAQ2,Q14683,Q6KC79,Q15233,Q7L590,Q14839,P61978,Q96GM5,P98175,Q6ZRS2,Q5H8A4,Q9Y4P3,Q68CP9 45 |
| Eyelid coloboma 0.6547513242022205 1.8952893702888292 0.0580540756478196 1.0 0.2924910259414737 9 Q15427,Q9H9Y6,Q13428,Q9H2P0,P55265,Q6NUK1 6 |
| Respiratory arrest 0.6820097324436513 1.8902901834113743 0.0587191609595518 1.0 0.2945542241823005 8 P49748,Q9H0U9,O43772,P23786 4 |
| Macroorchidism 0.8326976046121215 1.889337827100002 0.0588465759624963 1.0 0.2948725165077261 4 P51608,Q06787 2 |
| Abnormal cardiac ventricular function 0.5014565399600491 1.88653824385252 0.05922245986162 1.0 0.2962914384871029 20 P49748,Q9UER7,P46100,Q969Y2,Q96RR1,P02545,P09622,P54098,Q15233 9 |
| Limitation of joint mobility 0.3244237059492117 1.8836303906580212 0.0596149880921241 1.0 0.2975067431653792 99 P37268,Q15427,Q9BYW2,P48735,P02545,P23786,Q14807,Q9UIG0,Q96AY3,O14979,O75367,Q15022,P46100,Q14683,Q6KC79,Q9Y2U8,P51608,Q96T58,Q8WVM7 19 |
| Ophthalmoparesis 0.3405323230849966 1.8835164046730837 0.0596304188036465 1.0 0.2975067431653792 82 P31040,Q9H0U9,O75251,O43395,O76024,P51530,Q96RR1,Q9Y4W6,Q8WWY3,O43819,Q86U42,Q8IY37,O94906,P00846,Q5U5X0,O60318,O43678,P16219,P53007,P54098,P35240,O95299,O43172,O43837,O75695,P30038,P08559,Q6P2Q9,Q8N5K1,Q92560,Q5JPH6,Q96CU9,Q9BU61 33 |
| Abnormal hand bone ossification 0.7086883394233977 1.8829776190289096 0.0597034010947754 1.0 0.2975488422128809 7 Q9NUQ7,Q15643 2 |
| Distal lower limb muscle weakness 0.5123989191753505 1.88191360837344 0.0598477464469753 1.0 0.2979461243202551 19 P00846,Q9Y6X9,Q5T440,P02545,Q8IY17 5 |
| Arterial rupture 0.7482912332838046 1.878539506886409 0.0603073977833852 1.0 0.2993285410220635 2 O60568 1 |
| Tinnitus 0.5530416679513435 1.8713545315693032 0.0612959567156619 1.0 0.303258675944691 15 P31040,O95831,Q92560,Q15043,P35240 5 |
| Abnormality of the diencephalon 0.4201795583095223 1.8701908521437656 0.0614573195951895 1.0 0.303258675944691 35 Q9Y4P3,O43819,Q9UIG0,Q969Y2,Q8WWQ0,P54098,Q96RR1,P11166,Q14683,P02792,P35240 11 |
| Hypoplasia of the radius 0.6203103763613618 1.8616616830429955 0.062650792780444 1.0 0.3074772615222471 10 Q9UHB7,Q15427,Q6KC79 3 |
| Sporadic 0.4619667992068156 1.861341158855867 0.0626960142800243 1.0 0.3074772615222471 26 O96028,Q9BWD1,Q86U86,Q6KC79 4 |
| Nonketotic hypoglycemia 0.8249450231959277 1.857524575786765 0.0632365580755638 1.0 0.3097986532713594 4 P23786 1 |
| Platyspondyly 0.4217115875518185 1.854745588679882 0.0636325653190388 1.0 0.3101541040482196 34 P26373,Q5JRA6,Q14807,O60568,Q14739,P50454,Q15643,Q32P28,P48735,Q96AY3,Q02809,Q9NUQ7,P32322,Q8IY37,O95831,Q96PY6,Q6NUK1,Q96HY6 18 |
| Short digit 0.2918794241217469 1.8540099989364591 0.0637377294993244 1.0 0.3101541040482196 158 P62913,Q15427,Q03252,Q03164,Q12768,Q9ULC3,P61313,P02545,P63000,O96028,Q92925,Q06136,Q14669,Q7Z5J4,P51532,Q9UHB7,O75367,O95831,Q04721,Q7Z3K3,P55011,Q9H2P0,Q9UQE7,Q8IY17,Q9BXW9,Q9UBM7,Q69YQ0,Q14739,O60341,Q15643,P46100,Q8TAQ2,P11166,Q14683,Q6KC79,Q9UGU0,Q96GM5,P51608,Q6ZRS2,Q96T58,Q5H8A4,Q68CP9 42 |
| Abnormality of salivation 0.4012409106017151 1.8533268303615111 0.0638355277845645 1.0 0.3101541040482196 45 Q03252,P09651,Q92804,P51610,P55011,P55795,P42356,Q14739,O75787,P34897,P50995,P46100,Q96PY6,Q8TD30,Q9BVA1,Q9BZI7,Q15233,Q13148,P51608,P43243,Q96T58 21 |
| Preauricular skin tag 0.5188132654944126 1.8491307418396763 0.0644389363275359 1.0 0.3110612528481054 18 Q15427,Q12768,Q13428,Q00839,O96028,P08754 6 |
| Muscle stiffness 0.4842396531928943 1.8435883958146853 0.0652431484451823 1.0 0.3136481742739434 22 P00846,P49748,Q9Y4I1,P11166,P23786 5 |
| Radioulnar synostosis 0.5068278592168705 1.842470795995255 0.0654063144917302 1.0 0.3140865727154965 19 Q15427,Q9UIG0,O96028,Q9UQE7,Q14683,Q6KC79 6 |
| Stereotypical hand wringing 0.8208173988061542 1.840552021981036 0.0656872341195038 1.0 0.3143238525379909 4 P51608,Q14683 2 |
| Deep set nails 0.73997028231798 1.840271015055536 0.0657284585350592 1.0 0.3143238525379909 2 Q15022 1 |
| Low back pain 0.739673105497772 1.8389021793409464 0.0659295752122788 1.0 0.3146328589323037 2 Q8WVX9 1 |
| Delayed ability to roll over 0.8200960577747881 1.837583476641556 0.0661238054409627 1.0 0.3152334468281678 4 P51608 1 |
| Hypoplastic toenails 0.4650704417810284 1.8345988232222932 0.0665651531778284 1.0 0.3166768322714149 25 Q15022,Q96GM5,O60341,Q9UIG0,P51532,Q9UHB7,Q8TAQ2,Q9Y4P3,Q68CP9,P23786 10 |
| Abnormal astrocyte morphology 0.505654099760081 1.8341437921915555 0.066632652343443 1.0 0.3166768322714149 19 P00846,Q9BYW2,P48735,O95831,P54098 5 |
| Downturned corners of mouth 0.399463247362268 1.831734188295582 0.0669910324601765 1.0 0.3170414058014918 44 Q9H490,Q14669,Q9Y2U8,Q9UGU0,Q96GM5,O60341,Q6ZRS2,Q9UHB7,Q5H8A4,Q04721,Q7Z3K3,Q14683,O96028,Q9UQE7,Q8N201,P18583,P55201,Q6KC79 18 |
| Advanced eruption of teeth 0.5974642641339902 1.8230103689255384 0.0683018204642029 1.0 0.3211261885901881 11 Q9UBM7,P02545,Q9H2P0 3 |
| Syringomyelia 0.7355969090294329 1.8209604933682555 0.0686128624682651 1.0 0.321775479123807 6 Q04721,Q9Y2U8,Q9BYW2,O60341 4 |
| Aplasia hypoplasia of the nipples 0.5146267510615392 1.8202426128882163 0.0687220663688463 1.0 0.3217770725869241 18 O60216,Q6NUK1,Q12768,Q9UQE7,P10586,O96028,Q5H8A4,Q14683,Q6KC79 9 |
| Metatarsus adductus 0.5804614948353164 1.820040734250112 0.06875280184341 1.0 0.3217770725869241 12 Q9ULC3,Q9UBM7 2 |
| Prominent ear helix 0.814813002855793 1.8158202343279457 0.0693979523287187 1.0 0.3233062197316292 4 Q5T8D3,P02545 2 |
| Abnormal qrs complex 0.7346210995542357 1.815610211898394 0.0694301860161199 1.0 0.3233062197316292 2 P14923 1 |
| Muscle fiber atrophy 0.4803657860967396 1.814261463171852 0.069637481523356 1.0 0.3235055845199106 22 Q99720,P61978,Q9NP81,Q02809,P22626,P50402,P02545,P53007,Q8WXH0,P54098,P23786 11 |
| Abnormal enchondral ossification 0.426062686471126 1.8139507534780288 0.0696853078945649 1.0 0.3235055845199106 31 Q14807,Q9UBM7,Q9BYW2,Q15643,Q9NUQ7,O96028,Q96HY6 7 |
| Abnormality of dental eruption 0.3794245429894741 1.8131358601290035 0.0698108694716679 1.0 0.3235055845199106 61 Q9ULC3,Q9BYW2,P02545,Q8NC56,Q7Z5J4,P51532,Q9H2P0,Q9UQE7,Q69YQ0,Q9UBM7,Q15643,Q12959,Q8TAQ2,Q14683,Q6KC79,Q96GM5,P51608,Q6ZRS2,Q68CP9 19 |
| Deviation of the thumb 0.5340305249268802 1.8119600774925135 0.0699923653578591 1.0 0.3236357114340327 16 Q9UBM7,O60216,P34897,Q96ST3,P21333,Q9UQE7,Q14683,Q6KC79 8 |
| Enchondroma 0.6386580796938499 1.8113206065301417 0.0700912376990441 1.0 0.3237681420767469 9 P48735 1 |
| Synostosis of joints 0.4227313423910864 1.809284223575265 0.0704068586829274 1.0 0.3241404458532652 32 Q15427,Q15233,Q9UIG0,Q9UHB7,O75367,O96028,Q9UQE7,Q14683,Q6KC79 9 |
| Atresia of the external auditory canal 0.5515178321144062 1.8024602525845732 0.071473022857297 1.0 0.3272885608051025 14 P62913,Q15427,Q6KC79,Q13428 4 |
| Wide mouth 0.3681501128465977 1.802337532428311 0.0714923168613315 1.0 0.3272885608051025 66 Q15427,Q7Z5J4,Q14669,Q9Y4A5,Q9UIG0,P51532,P55011,Q9H2P0,P55201,Q9H490,P55795,Q9UBM7,P46100,Q13428,Q8TAQ2,P11166,Q15233,Q96GM5,Q6ZRS2,Q96T58,Q9Y4P3,Q68CP9,Q8WVM7 23 |
| Periventricular heterotopia 0.5602763346274787 1.8017891516591036 0.0715785851789139 1.0 0.3273584103916598 13 Q6ZXV5,Q96PU5,Q9UBM7,O60281 4 |
| Melanocytic nevus 0.5601999127207983 1.801322177882862 0.0716521142140118 1.0 0.3273699172711543 13 Q01831,Q9NW13,Q96AY3 3 |
| Contractures of the joints of the upper limbs 0.3525683638526244 1.79983100227308 0.0718873270794244 1.0 0.3277948346549424 72 P37268,Q14807,Q15022,Q99720,Q9Y6X9,Q9ULC3,P51608,Q9BYW2,Q96AY3,Q96T58,P02545,Q14683,Q6KC79,P23786 14 |
| Encephalocele 0.5508391083038129 1.7982161910823975 0.0721427547445938 1.0 0.3286344855460254 14 Q9H9Y6,O15160,Q13428,P21333,Q6ZXV5,O15078,Q96HP0,P07942,Q96J42,O43505 10 |
| Displacement of the urethral meatus 0.3104974961407319 1.7963290213960947 0.0724422049165358 1.0 0.3294888925514091 125 Q9NPE3,P37268,P62913,Q12768,Q9BYW2,P29372,P53597,P61313,P02545,P63000,Q8ND04,O96028,Q9UBX3,P51532,Q9UHB7,O14497,Q04721,Q9UQE7,Q9NX14,Q8IY17,Q9BXW9,Q9UBM7,Q86W42,Q69YQ0,O60341,O75787,P46100,Q8TAQ2,Q14683,Q6KC79,Q96GM5,P51608,Q6ZRS2,Q96T58,O60832,Q5H8A4,Q68CP9 37 |
| Aplasia hypoplasia involving bones of the thorax 0.408669597241136 1.7957717849422 0.072530819798714 1.0 0.3294888925514091 37 Q15427,Q03164,Q14839,Q14739,P98175,Q15643,Q6ZRS2,Q96T58,P02545,Q8NC56,Q6KC79,Q96HY6 12 |
| Abnormal blistering of the skin 0.4599067504716089 1.79330735847413 0.0729237914445537 1.0 0.3299931450442888 25 Q02487,Q96T58,Q06136 3 |
| Atrial flutter 0.8221360686805181 1.7879953078280546 0.0737767648492717 1.0 0.331590440121416 3 P02545 1 |
| Midface retrusion 0.3324909123663927 1.7869689306770602 0.073942510291717 1.0 0.331590440121416 84 Q15427,Q9ULC3,P32322,P02545,Q8NC56,O14646,Q14807,O60783,Q96TA2,O95831,Q7Z3K3,Q9NX14,P18583,Q14739,P46100,Q13428,Q14683,Q9UGU0,P51608,Q96T58 20 |
| Abnormally low pitched voice 0.6880952380952392 1.7842557363499918 0.0743821192295248 1.0 0.3332376770146838 7 Q15022,O60216,O75530,Q9UQE7,Q14683,Q6KC79 6 |
| Hypoplastic pubic rami 0.76497318075689 1.7820388383946673 0.0747428984341733 1.0 0.333321248139436 5 O96028 1 |
| Rib segmentation abnormalities 0.76497318075689 1.7820388383946673 0.0747428984341733 1.0 0.333321248139436 5 O96028 1 |
| Abnormality of abdominal situs 0.76497318075689 1.7820388383946673 0.0747428984341733 1.0 0.333321248139436 5 O96028 1 |
| Small epiphyses 0.8064946387214358 1.7814767676737464 0.0748345969250143 1.0 0.333321248139436 4 Q15643,O95831 2 |
| Abnormality of the ureter 0.3510950743558224 1.7805563319386986 0.0749849589568367 1.0 0.3333708033660591 72 P31040,P62913,Q15058,Q9ULC3,Q9BYW2,P02545,Q96J42,Q9H936,P23786,P23229,Q7Z5J4,Q9Y4A5,Q9UIG0,Q9UHB7,O15078,Q9UQE7,Q9BXW9,Q69YQ0,Q9UBM7,P46100,Q00839,Q14683,Q6KC79,Q14839,P61978,Q9Y4P3,O14936 27 |
| Abnormal renal medulla morphology 0.5899815234400615 1.780523346139617 0.0749903520803911 1.0 0.3333708033660591 11 Q9NQH7,Q6KC79 2 |
| Oligodactyly 0.686916004778164 1.7785769878215063 0.0753091396539487 1.0 0.3339353409136421 7 Q9UQE7,Q15427,Q6KC79,Q14683 4 |
| Aplasia hypoplasia involving forearm bones 0.4976308393390241 1.7770709852288469 0.0755565612919948 1.0 0.3345972599001885 19 Q15427,Q9UBM7,Q15643,Q96AY3,Q9UHB7,O75367,Q6KC79 7 |
| Lower limb hypertonia 0.5730703469186524 1.7765348348688688 0.0756448055851293 1.0 0.3346665582988927 12 P31040,Q14739,O60341,P46100,Q9ULH0,Q8WVX9 6 |
| Cyanosis 0.507810375197256 1.7730592961186171 0.0762188818192739 1.0 0.3365435860334226 18 O43772,P98175,P02545,P53007,Q969Y2,P11166 6 |
| Abnormality of the pituitary gland 0.3657383138170953 1.7728815610211777 0.0762483346729685 1.0 0.3365435860334226 66 Q12768,Q03164,Q15031,O14654,Q8WWQ0,P48735,Q9Y6N7,Q9NW13,Q14697,Q9UHB7,Q96ST3,Q8NI27,Q9H2P0,Q8IY17,Q96LT9,P42356,Q14683,Q9UJA3,Q15233,P35240,P40818,Q06787,Q4J6C6,Q92560 24 |
| Horseshoe kidney 0.3936418217293312 1.7726418059172795 0.076288079697381 1.0 0.3365435860334226 44 Q9Y2U8,P62913,Q9BXW9,Q96GM5,P98175,P51532,Q9UHB7,Q00839,Q8TAQ2,P61313,O14497,O60832,P18583,Q68CP9,Q8WVM7 15 |
| Abnormality of skeletal muscle fiber size 0.4846440270801778 1.763599199091895 0.0777994826607697 1.0 0.3412517745634144 20 P09651,P22626,O95831,P02545,Q96RR1,P54098 6 |
| Abnormal caudate nucleus morphology 0.5866029329538738 1.7612877227281611 0.0781897169723564 1.0 0.3422176174993498 11 P00846,O43819,Q9BVA1,P02792 4 |
| Abnormality of the larynx 0.3900400647432172 1.7605381019675126 0.0783166131153609 1.0 0.3422176174993498 49 Q14807,Q15427,Q69YQ0,P09651,Q9UBM7,Q9H0U9,P43243,Q92804,Q9UHB7,P02545,Q96HY6 11 |
| Phimosis 0.8141152203741557 1.7552420213260738 0.0792179189868895 1.0 0.3451843473260805 3 O60832 1 |
| External genital hypoplasia 0.3062227292958143 1.7552287851009052 0.0792201820978293 1.0 0.3451843473260805 130 Q8WVM7,Q03252,Q12768,Q9ULC3,Q9NP72,Q9H0U9,Q8WWQ0,O43395,Q01831,P09471,P02545,Q9Y6N7,Q9H936,P55265,P50213,Q8WWY3,O43505,Q6NUK1,O14974,Q96GM8,O60216,Q9Y4A5,Q9UIG0,Q96ST3,O15078,Q8NI27,Q8IY37,O94906,Q9UQE7,Q9NX14,Q8IY17,Q9H9Y6,O75845,Q13724,Q15022,Q9UBM7,Q86W42,Q9BXW9,P46100,Q13428,Q96PY6,P19022,Q14683,Q6KC79,Q06787,Q9UJA3,Q9Y3Z3,O43172,O43837,O75695,Q14839,Q9NVI7,O75530,Q96T58,O95470,Q8TCJ2,Q6P2Q9,Q9H7N4,O60832,Q9Y4P3,O14936 61 |
| Cogwheel rigidity 0.6813133039263132 1.7515598639176284 0.0798495191231598 1.0 0.3465269614229785 7 P00846,Q96RR1,P54098,O75787 4 |
| Preaxial foot polydactyly 0.7199385160028713 1.7495408661479424 0.0801975712371421 1.0 0.3468206410912055 6 Q9ULC3 1 |
| Joint stiffness 0.377284482971346 1.7486157975919008 0.0803574537202314 1.0 0.3468912017979288 59 Q9Y2U8,Q15022,Q15427,P51608,Q9UIG0,P46100,P48735,Q96AY3,Q96T58,O75367,P02545,Q14683,Q6KC79 13 |
| Abnormal activity of mitochondrial respiratory chain 0.3803257610140149 1.7484845427731328 0.0803801598612017 1.0 0.3468912017979288 57 P31040,Q9UBX3,O95299,O60783,O43678,Q70HW3,O75251,Q5T440,Q969Y2,P53597,P08559,Q5JPH6,Q9NX14,Q15046,O75648,Q9NPL8,Q9BU61 17 |
| Aplasia hypoplasia of fingers 0.3203713266496372 1.7481409126359646 0.0804396300915371 1.0 0.3468912017979288 95 P62913,Q15427,Q03252,Q03164,P61313,P09471,P02545,P63000,O96028,Q9H936,Q6NUK1,O60885,O60216,P61353,P51532,Q13618,Q96ST3,P62847,O14497,O95831,Q04721,Q96T60,P51610,Q9UQE7,P18583,Q9BXW9,Q9UBM7,P11274,O60341,Q8TAQ2,Q96PY6,Q9BZI7,Q14683,Q6KC79,Q96GM5,P51608,Q6ZRS2,Q07020,P21333,P46777,Q5H8A4,Q68CP9,O14936 43 |
| Excessive wrinkling of palmar skin 0.7194650817236262 1.7454958728650494 0.0808985902369694 1.0 0.3475698984086012 2 Q02809 1 |
| Palmoplantar cutis laxa 0.7194650817236262 1.7454958728650494 0.0808985902369694 1.0 0.3475698984086012 2 Q02809 1 |
| Glossoptosis 0.6526677316157572 1.74332185795884 0.0812774093546322 1.0 0.3485477740696322 8 P98175,Q13428,Q9UHB7,P08754,Q9H9Y6 5 |
| Testicular dysgenesis 0.7185735512630023 1.7413607821505883 0.0816203580360757 1.0 0.3490443882618821 2 Q9H0U9 1 |
| Misalignment of incisors 0.755233130824012 1.7396421148926973 0.0819218793390668 1.0 0.3500091415691362 5 P46100,Q8WVM7 2 |
| Horizontal eyebrow 0.6783339214621937 1.7371685093677818 0.0823574315777682 1.0 0.3504470525347022 7 Q96T58,Q8N201,P78536 3 |
| Patent ductus arteriosus 0.3260282633055844 1.7356116407762985 0.082632526270113 1.0 0.3504470525347022 88 P62913,Q15427,Q9ULC3,Q9BYW2,P53597,Q6ZXV5,P02545,P63000,P24468,Q9Y4A5,Q9UIG0,P51532,Q9UHB7,O95602,O14497,Q04721,Q9UQE7,P18583,Q96PU5,Q9UBM7,Q69YQ0,Q9BXW9,Q15643,Q13428,Q8TAQ2,Q15233,Q96GM5,Q96T58,Q9Y4P3,Q68CP9 30 |
| Micromelia 0.4585782168278209 1.7347792341283643 0.0827799156876936 1.0 0.3506895192565318 24 Q9UBM7,Q14739,Q15643,P48735,Q6KC79,Q96HY6 6 |
| Aplasia hypoplasia of the nails 0.3501301052661894 1.7322122611689037 0.0832357767573075 1.0 0.3517112106793655 71 Q9NPE3,P14923,Q12768,Q9BYW2,P06748,P09471,P02545,Q9H936,Q6NUK1,P23786,P23229,Q9Y4A5,Q9UIG0,P51532,Q9UHB7,Q9Y487,O14497,Q04721,Q15022,Q14739,P11274,O60341,Q8TAQ2,Q96GM5,O75530,Q96T58,O60832,Q9Y4P3,Q68CP9,O14936 30 |
| Accelerated skeletal maturation 0.581347718380539 1.7313049017904047 0.083397397649803 1.0 0.3520714314703223 11 Q9BYW2,P10412,Q03164 3 |
| Heterotaxy 0.6764498191945669 1.7280591317636476 0.083977623531811 1.0 0.3541965640271262 7 O96028,Q5H8A4 2 |
| Abnormal 5th finger morphology 0.3090974283469004 1.7260741660899583 0.0843340707837718 1.0 0.3550502888704916 114 Q03252,Q03164,Q9ULC3,Q96J42,P63000,Q7Z5J4,O00459,Q9Y4A5,Q9UIG0,P51532,O75367,O14497,Q9UQE7,Q8IY17,Q9BXW9,Q9UBM7,Q69YQ0,Q14739,O60341,P46100,Q8TAQ2,Q14683,Q6KC79,Q15233,Q9Y2U8,Q9UGU0,Q96GM5,P51608,Q6ZRS2,Q96T58,O60281,Q9Y4P3,Q68CP9,Q8WVM7 34 |
| Anonychia 0.5108631753844178 1.7237155944684694 0.0847591984014921 1.0 0.3565145115245244 17 P14923,P11274,Q14739,P09471,O14497,Q96T60,Q9H936,Q6NUK1,O14936,P23229 10 |
| Cardiac conduction abnormality 0.4102336555915291 1.7213278080630867 0.0851913561302732 1.0 0.3570291505198321 33 P14923,P49748,P31040,P00846,O43772,O43819,P19022,Q9BTV4,P50402,P02545,Q8NC56,Q8WXH0,Q99959,Q9H490,P23786 15 |
| Abnormal echocardiogram 0.7506719233166923 1.719740811511655 0.0854795658028404 1.0 0.3575869313530802 5 P49748,Q969Y2,P54098 3 |
| Upper airway obstruction 0.7913774805930904 1.7188334218305763 0.0856447079522988 1.0 0.3576850535940815 4 P02545 1 |
| Pain insensitivity 0.8052031695417003 1.7187593543348576 0.0856581993856542 1.0 0.3576850535940815 3 P51608 1 |
| Peroneal muscle atrophy 0.8050615840017936 1.7181790117284257 0.0857639685620053 1.0 0.3578026199736149 3 P02545 1 |
| Pointed chin 0.4016694386688724 1.7121274318769877 0.0868731870400985 1.0 0.3614489099773051 36 Q86W42,P20700,Q9BYW2,Q9UIG0,Q96T58,P11233,Q96JM3,Q7Z3K3,Q04721,O14646,O60281,Q9Y4P3,Q9H490 13 |
| Basal ganglia gliosis 0.6192053203268459 1.7089816205973545 0.0874543540350498 1.0 0.3630503350625281 9 P00846,P55265,O43819,Q9BU61 4 |
| Tapered finger 0.3974292572994874 1.7055133517651135 0.0880987242767072 1.0 0.3637746825473354 38 P23786,Q03164,Q9UGU0,Q8WWQ0,Q96T58,Q06136 6 |
| Sparse scalp hair 0.4053533672307269 1.7029659801961643 0.088574435069781 1.0 0.3645787014925808 34 Q9NPE3,P14923,Q96GM5,O60341,Q9BYW2,P51532,P62304,Q8TAQ2,O14497,P02545,Q9H2P0,O60832,Q02487,Q68CP9 14 |
| Generalized hirsutism 0.4224669095664788 1.697063445664602 0.0896846662002126 1.0 0.3678347964261391 29 P40818,Q03252,Q03164,Q96T58,O15078,Q04721,P02545,Q14683,Q9UQE7,Q6NUK1,Q6KC79,Q06136 12 |
| Wide intermamillary distance 0.4700342378964888 1.6942471936276549 0.0902183203665492 1.0 0.3688588022251213 21 Q5T440,Q9UBM7,Q8WWQ0,P23786 4 |
| Phenotypic variability 0.3076295988246856 1.6940573378791577 0.0902543880498778 1.0 0.3688588022251213 109 P00846,Q9BVA1,Q15427,Q15058,P35240,O15121,P00374,Q5T440,Q70HW3,P43243,O14979,P02545,P55201,Q969Y2,P11166,P54098,Q06787 17 |
| Aplasia hypoplasia involving the metacarpal bones 0.4409586151485909 1.6896543411953835 0.091094103188311 1.0 0.3709536736238431 26 Q9BXW9,Q14739,Q15643,Q6ZRS2,Q9UQE7,Q14683,Q6KC79 7 |
| Abnormality of the breast 0.3073357815142659 1.689153870650465 0.0911899464624046 1.0 0.3709536736238431 109 P23786,Q06787,Q9UBM7,Q9UGU0,P51608,Q5T440,Q9NW13,P46100,P48735,Q8WWQ0,Q9UHB7,P02545,Q9H2P0,O96028,P10586,Q8IY17,Q14683,Q6KC79 18 |
| Laryngeal stenosis 0.7978091626365038 1.6884220386601076 0.0913302428553279 1.0 0.3709536736238431 3 Q96HY6 1 |
| Aplasia hypoplasia of the 5th finger 0.5331181453284929 1.6868797204196968 0.0916264822814354 1.0 0.3714345138584072 14 Q96GM5,P51532,Q8TAQ2,P63000,Q9UQE7,Q68CP9 6 |
| Toe walking 0.4405758285790362 1.6865064027391024 0.0916983029044797 1.0 0.3714345138584072 26 Q99720,Q9Y6X9,P50402,O95831,P02545,Q8ND04 6 |
| Congenital malformation of the great arteries 0.3071732989041695 1.6859701148921924 0.0918015556664126 1.0 0.3714345138584072 108 P62913,Q15427,Q12768,Q9ULC3,Q9BYW2,P53597,Q6ZXV5,P02545,P63000,Q7Z5J4,P24468,Q9Y4A5,Q9UIG0,P51532,Q9UHB7,O95602,O14497,Q04721,Q9UQE7,P18583,Q96PU5,Q9UBM7,Q69YQ0,Q9BXW9,Q15643,Q13428,Q8TAQ2,Q15233,Q14839,Q96GM5,P98175,Q6ZRS2,Q96T58,Q9Y4P3,Q68CP9 35 |
| Cleft upper lip 0.4063074532437369 1.6851370756647688 0.0919621279124098 1.0 0.3714345138584072 33 P14923,Q7Z5J4,Q15427,Q69YQ0,P29372,Q13428,O00571,O96028,Q5H8A4,O60934,Q14683,Q6KC79 12 |
| Supraventricular arrhythmia 0.4847015145069394 1.6845595129693272 0.0920735882471668 1.0 0.3714345138584072 19 P00846,P50402,P02545,Q96RR1,P54098,Q99959 6 |
| Dental crowding 0.4511499320467093 1.6759903974378794 0.0937400735265239 1.0 0.3734863941652251 24 Q69YQ0,Q9UBM7,Q92643,Q96T58,Q02809,Q9ULH0,P02545,P08754,Q14683,Q15233 10 |
| Ventricular escape rhythm 0.7038367707610396 1.675678399964647 0.0938012029478625 1.0 0.3734863941652251 6 Q8WXH0,P50402,P02545 3 |
| Hyporeflexia of upper limbs 0.792714388931083 1.6674835235149572 0.0954182979770705 1.0 0.3784669147434903 3 O75787 1 |
| Carcinoma 0.7383529836534299 1.6658474847344773 0.0957437955859519 1.0 0.3786531572541438 5 O60832 1 |
| Epidermal acanthosis 0.5543511362786329 1.6656361141198348 0.0957859135285414 1.0 0.3786531572541438 12 Q6P1M0,Q99828,O15446,Q02487,Q06136 5 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.6635499485798516 1.6655168097363051 0.0958096927997922 1.0 0.3786531572541438 7 Q8WXH0,P50402,P02545 3 |
| Apneic episodes precipitated by illness fatigue stress 0.7013372956909371 1.661197898352155 0.0966737075424655 1.0 0.3797976948064788 2 P53007 1 |
| Abnormality of the 1st metacarpal 0.6101538229060343 1.6610670180872582 0.0966999876168364 1.0 0.3797976948064788 9 Q9BXW9,Q15233,Q9UQE7,Q14683,Q6KC79 5 |
| Posteriorly rotated ears 0.3046080246305578 1.6607851180263395 0.0967566110869526 1.0 0.3797976948064788 118 P37268,Q15427,P32322,Q96J42,Q8ND04,O96028,Q92925,P23786,Q7Z5J4,Q9Y4A5,Q9UIG0,Q9UHB7,O15078,Q7Z3K3,Q9H2P0,Q9UQE7,P08754,Q8IY17,Q9H490,Q15022,Q9UBM7,Q69YQ0,P46100,P19022,Q14683,Q6KC79,Q9UGU0,P98175,Q6ZRS2,Q96T58,P11233,Q99567,Q5H8A4,Q9Y4P3,Q68CP9 35 |
| Hand polydactyly 0.3928143709397612 1.6607570690036626 0.096762246565816 1.0 0.3797976948064788 38 Q7Z5J4,Q9BXW9,Q9UBM7,Q12768,Q9ULC3,Q14739,P98175,O00459,Q15067,Q96J42,O96028,Q8IY17,Q5H8A4 13 |
| Ulnar deviation of the hand or of fingers of the hand 0.5687756915764977 1.6592770921781292 0.0970599691602716 1.0 0.3797976948064788 11 Q9NW13,Q9UBM7 2 |
| Peripheral visual field loss 0.7007429420505211 1.6584266170499384 0.0972313878651229 1.0 0.3797976948064788 2 P31040 1 |
| Iron accumulation in globus pallidus 0.7007429420505211 1.6584266170499384 0.0972313878651229 1.0 0.3797976948064788 2 P02792 1 |
| Abnormal circulating ferritin concentration 0.6620724747008875 1.6583348581232964 0.0972498969204205 1.0 0.3797976948064788 7 Q7L590,P02792 2 |
| Abnormality of the 5th metacarpal 0.7001485884101049 1.6556548899724164 0.0977917274913862 1.0 0.3797976948064788 2 Q14739 1 |
| Increased density of long bones 0.700148588410105 1.6556548899724164 0.0977917274913862 1.0 0.3797976948064788 2 Q13126 1 |
| Aplasia hypoplasia of the 5th metacarpal 0.7001485884101049 1.6556548899724164 0.0977917274913862 1.0 0.3797976948064788 2 Q14739 1 |
| Large foramen magnum 0.700148588410105 1.6556548899724164 0.0977917274913862 1.0 0.3797976948064788 2 Q9ULC3 1 |
| Velopharyngeal insufficiency 0.6346360065429184 1.6521007204000953 0.0985140201377459 1.0 0.3813179117002591 8 Q7Z5J4,Q86W42,Q15427,Q12959,Q8WYQ5 5 |
| Upper limb muscle weakness 0.416300955934575 1.6431474445322891 0.1003524305647693 1.0 0.3864868044307326 29 P00846,Q9Y6X9,P50336,Q02809,P50402,P02545,P55265,Q8WXH0,Q92560,P36551,P35240 11 |
| Genu varum 0.5655002273273875 1.640444432633402 0.1009127932128017 1.0 0.3870282668144894 11 Q9ULC3,Q9NUQ7,Q15643,Q96HY6 4 |
| Abnormal skin morphology of the palm 0.3141914432202334 1.636909151038332 0.1016494535731691 1.0 0.3888829717612528 94 Q9NPE3,P14923,P31040,Q14126,P02545,O96028,Q6NUK1,Q06136,P42166,O60216,P42167,O15446,Q96ST3,Q8NI27,Q9H2P0,Q9UQE7,Q02487,Q8IY17,P62266,Q69YQ0,O60568,Q99828,Q14739,Q14683,Q6KC79,Q9Y2U8,P61978,P98175,Q99567,O60281,O60832,Q8WVM7 32 |
| Lower eyelid coloboma 0.7711180686774477 1.6344482958695183 0.1021647543820436 1.0 0.3892392708274555 4 Q13428 1 |
| Vascular neoplasm 0.39498300155276 1.6331738811382392 0.1024324315726332 1.0 0.3899368369527988 35 Q9Y2U8,Q9UBM7,Q9BYW2,P48735,Q96T58,O96028 6 |
| Acquired abnormal hair pattern 0.6307219125680392 1.632215951898672 0.1026340014845084 1.0 0.3901378071798507 8 P11166 1 |
| Small hand 0.4058570120304728 1.6321187072281405 0.1026544815855008 1.0 0.3901378071798507 31 Q06787,Q9Y4W2,Q69YQ0,Q96GM5,P51608,Q9UHB7,Q14683,Q9H2P0,P18583,Q6KC79 10 |
| Dilated cardiomyopathy 0.383713311182846 1.6274451471108953 0.103642589569717 1.0 0.3932447225649347 41 P00846,P49748,P42166,Q16836,P42167,Q14126,O43819,Q96T58,P02545,Q96RR1,P54098,P23786 12 |
| Limb girdle muscle atrophy 0.5317023420874746 1.625939032824501 0.103962625578855 1.0 0.3934407752845901 13 O14979,Q9Y6X9,P09651,P02545 4 |
| Polymicrogyria 0.3225556390282467 1.6256936430175233 0.1040148430567389 1.0 0.3934407752845901 82 P37268,Q15022,Q15427,P49411,Q96N66,Q9Y320,P51608,Q5T440,O00459,Q9NUQ7,Q6ZXV5,Q96JM3,Q96F86,P23786 14 |
| Basal ganglia cysts 0.6553469948277515 1.6255959327558425 0.1040356410134306 1.0 0.3934407752845901 7 P00846 1 |
| Abnormal morphology of the radius 0.5228307664718865 1.621805969923688 0.1048448997820594 1.0 0.3959065738010253 14 Q15427,Q15643,Q32P28,Q9UHB7,Q6KC79 5 |
| Aplasia hypoplasia involving bones of the upper limbs 0.2893712404852977 1.621738180116736 0.1048594200891652 1.0 0.3959065738010253 147 P62913,Q15427,Q03252,Q03164,P53597,P61313,P02545,P63000,O96028,Q7Z5J4,Q9Y4W2,Q14807,P51532,Q96AY3,Q9UHB7,O75367,O95831,Q04721,Q9H2P0,Q9UQE7,P18583,Q32P28,Q9BXW9,Q9UBM7,Q69YQ0,Q14739,O60341,Q15643,Q8TAQ2,Q14683,Q6KC79,Q06787,Q96GM5,P98175,P51608,Q6ZRS2,Q5H8A4,Q68CP9 38 |
| Volvulus 0.6542381801260664 1.6201911571228966 0.1051912203935603 1.0 0.3965538778664207 7 Q9UQE7,Q14683,P46100,Q6KC79 4 |
| Tooth malposition 0.3140522862530145 1.6201367475541528 0.1052029051259506 1.0 0.3965538778664207 93 Q92643,Q12797,P02545,Q92925,Q7Z5J4,O60216,P24928,Q9UIG0,Q96ST3,Q04721,Q9H2P0,P08754,Q9UQE7,Q9H9Y6,Q9UBM7,Q86W42,Q69YQ0,Q96N67,Q14739,O60341,P17252,P46100,Q13428,Q12959,Q02809,Q9ULH0,Q14683,Q6KC79,Q15233,P61978,P51608,Q96T58,Q9Y4P3,Q8WVM7 34 |
| Abnormality of the hypothalamus pituitary axis 0.3388395731975194 1.6195750742679071 0.1053235875405407 1.0 0.3966844269296509 72 Q12768,Q03164,Q15031,O14654,Q8WWQ0,P48735,Q9Y6N7,Q9NW13,Q14697,Q9UHB7,Q96ST3,O15078,Q8NI27,Q9H2P0,Q8IY17,Q96LT9,Q9BXW9,P42356,Q14683,Q15233,Q9UJA3,P35240,P40818,Q06787,Q4J6C6,Q92560 26 |
| Toxemia of pregnancy 0.6908976594744591 1.6160376691057707 0.1060861691219385 1.0 0.3976616156706779 6 O43772,P02545 2 |
| Right ventricular cardiomyopathy 0.6908902350494415 1.616003378669287 0.1060935827058133 1.0 0.3976616156706779 6 P14923,Q14126,Q02487,Q99959 4 |
| Decreased testicular size 0.4435745494180121 1.6157988704768789 0.1061378058582762 1.0 0.3976616156706779 24 Q01831,P46100,Q8WWQ0,O60832 4 |
| Narrow nasal bridge 0.7800745915595586 1.6154205676964373 0.1062196491347697 1.0 0.3976616156706779 3 Q15233 1 |
| Blurred vision 0.7268490803117598 1.6153407542015994 0.1062369226411799 1.0 0.3976616156706779 5 P00846,O00567 2 |
| Abnormality of the metacarpal bones 0.3821082632383896 1.6113876613809908 0.1070952548391295 1.0 0.3991181283818812 41 Q14807,Q9UBM7,Q9BXW9,Q14739,Q15643,Q6ZRS2,O96028,Q9UQE7,Q14683,Q6KC79,Q15233 11 |
| Abnormal connection of the cardiac segments 0.3716382732584657 1.6103050816841964 0.1073312704118532 1.0 0.3996746014528621 54 P62913,Q15427,Q12768,Q9ULC3,P02545,Q7Z5J4,P24468,Q9UIG0,P51532,Q04721,Q9BXW9,Q69YQ0,Q8TAQ2,Q14839,Q96GM5,P98175,Q6ZRS2,Q96T58,Q9Y4P3,Q68CP9 20 |
| Urinary bladder sphincter dysfunction 0.6004745598692542 1.6096352197542263 0.107477514688381 1.0 0.3998961603821119 9 P22626,P09651,Q06787 3 |
| Titubation 0.5741444101738501 1.606830181725953 0.1080916254668094 1.0 0.4012096565233424 10 Q5T8D3,Q99720 2 |
| Central hypothyroidism 0.5594106113709647 1.605361451104407 0.108414282740441 1.0 0.401829803977425 11 Q9NW13,Q14683,P35240 3 |
| Pseudoepiphyses 0.7243579782876673 1.604382384561201 0.1086297914630289 1.0 0.4019030394885432 5 Q9ULC3 1 |
| Pseudoepiphyses of hand bones 0.7243579782876673 1.604382384561201 0.1086297914630289 1.0 0.4019030394885432 5 Q9ULC3 1 |
| Abnormal fundus autofluorescence imaging 0.6885586924219922 1.601520712626442 0.109261636187534 1.0 0.4019030394885432 2 Q8WWY3 1 |
| Episodic respiratory distress 0.7765453956863961 1.6008560232934226 0.1094088117746885 1.0 0.4019030394885432 3 P00846 1 |
| Juvenile cataract 0.6497903127548206 1.5984907605978695 0.1099338000351961 1.0 0.4023843340861368 7 Q9H2P0,P51608,Q8NC56 3 |
| Optic nerve dysplasia 0.6876671619613681 1.5973501097284413 0.1101876867567914 1.0 0.4023843340861368 2 Q9ULH0 1 |
| Type ii lissencephaly 0.6876671619613679 1.5973501097284393 0.1101876867567919 1.0 0.4023843340861368 2 P07942 1 |
| Truncal obesity 0.4921858690679273 1.596540724936659 0.1103681208902285 1.0 0.4023843340861368 17 P40818,Q06787,Q9Y4W2,O60216,Q14683,Q9H2P0,Q9UQE7,Q96LT9,Q6KC79 9 |
| Synostosis involving bones of the upper limbs 0.4171853466345654 1.5946328467985815 0.1107943628932726 1.0 0.4023843340861368 28 Q15427,Q15233,Q9UIG0,O75367,O96028,Q9UQE7,Q14683,Q6KC79 8 |
| Impaired vibration sensation in the lower limbs 0.5264481801899421 1.5933492677929535 0.11108185993226 1.0 0.4025844137482066 13 P00846,O94905,Q12768,O43819,Q15120,P54886,Q8WVX9,O00400 8 |
| Muscle fiber necrosis 0.7729188784581087 1.5858778888984513 0.1127670125053399 1.0 0.4079078838583417 3 P54098 1 |
| Variable expressivity 0.3180220049678475 1.5856612591841015 0.112816171782947 1.0 0.4079078838583417 85 Q9BVA1,Q15427,Q15058,O15121,P00374,Q5T440,Q70HW3,P43243,P02545,P55201,Q969Y2,P11166,P54098,P35240 14 |
| Plantar hyperkeratosis 0.3926312377052791 1.583893730845017 0.113217904273543 1.0 0.4087564038263014 34 Q9NPE3,P14923,P42166,Q9Y2U8,P42167,Q14126,O15446,P02545,O60832,Q02487,Q06136 11 |
| Abnormality of the carpal bones 0.5083977745867954 1.5838485678875682 0.113228183879867 1.0 0.4087564038263014 15 Q9BYW2,Q9NUQ7,O75367,Q15643 4 |
| Abnormality of the testis size 0.4028199320380263 1.582587304975491 0.1135155588960037 1.0 0.409473181933159 30 P51608,P46100,Q8WWQ0,Q01831,O60832,Q06787 6 |
| Abnormality of the philtrum 0.274551194505847 1.579886316378983 0.1141329034543996 1.0 0.4113781742961551 214 Q9P273,Q03164,P20700,Q8WWQ0,P29372,Q8NC56,Q8ND04,O96028,Q6NUK1,Q14669,Q7Z5J4,O14974,O60216,Q9Y4A5,Q9UIG0,P51532,Q9Y3B2,Q9UHB7,Q96ST3,O14497,Q04721,Q8WVX9,P55011,Q9H2P0,Q9UQE7,P55201,P10586,Q7Z3K3,P18583,Q9H490,P55795,Q15022,Q9UBM7,Q86W42,O60568,Q69YQ0,Q96N67,P11274,Q15643,P17252,P46100,Q00839,Q8TAQ2,Q9ULH0,Q96JM3,Q15046,P19022,O60934,P11166,O75718,Q14683,Q6KC79,Q15233,Q9UGU0,Q96GM5,P51608,Q6ZRS2,Q96T58,P11233,Q8N201,O60281,Q5H8A4,Q9Y4P3,Q68CP9,O14936 65 |
| Stenosis of the external auditory canal 0.6822905147407959 1.576234596850738 0.1149717480908774 1.0 0.4137546906314948 6 O96028,P55011 2 |
| Hydrocele testis 0.6820632018388728 1.5751820793793327 0.1152144224594691 1.0 0.4143045924634576 6 Q13724,Q9NVI7,Q9UBX3,Q9BYW2 4 |
| Type 1 muscle fiber atrophy 0.6189314849321265 1.5721494562731455 0.1159158941017421 1.0 0.4165021604123394 8 P61978,Q8WXH0,P50402,P02545 4 |
| Episodic ataxia 0.6810473073490044 1.5704774152122831 0.1163040846073975 1.0 0.4168218600180088 6 P08559,P09471,Q9H936,P11166,O14936 5 |
| Megalocornea 0.5383819187542396 1.5702827488797788 0.1163493457473299 1.0 0.4168218600180088 12 O96028,Q5H8A4,Q9UIG0 3 |
| Delayed epiphyseal ossification 0.7165999851349655 1.5702088271986836 0.116366536625418 1.0 0.4168218600180088 5 Q96HY6 1 |
| Aplasia hypoplasia involving the pelvis 0.505888749616897 1.567509420871842 0.1169956659030249 1.0 0.4181204771196953 15 O96028,Q5H8A4,O95831,Q96HY6 4 |
| Abnormal finger phalanx morphology 0.2679831080031942 1.567507032314367 0.1169962237655286 1.0 0.4181204771196953 173 P62913,Q15427,Q03164,Q12768,Q9ULC3,Q9BYW2,P61313,Q96J42,P02545,O96028,Q14669,Q7Z5J4,Q14807,O00459,Q15067,P51532,O75367,O14497,Q04721,P55011,Q9H2P0,Q9UQE7,Q8IY17,Q15022,Q9UBM7,Q9Y6X9,Q9BXW9,Q14739,Q15643,Q14683,Q6KC79,Q15233,Q9Y2U8,Q9UGU0,P98175,P51608,Q6ZRS2,Q96T58,Q99567,Q5H8A4 40 |
| Rib fusion 0.5670766665109896 1.5673578874964411 0.1170310616056846 1.0 0.4181204771196953 10 O96028,Q5H8A4,Q96T58 3 |
| Hypoplasia of penis 0.3000074136219023 1.5665372915943836 0.1172228853784098 1.0 0.4181204771196953 108 Q03252,Q12768,Q9NP72,Q9H0U9,Q8WWQ0,O43395,P09471,Q9Y6N7,Q9H936,P55265,P50213,Q8WWY3,O43505,Q6NUK1,O14974,Q96GM8,O60216,Q9Y4A5,Q9UIG0,Q96ST3,O15078,Q8NI27,Q8IY37,O94906,Q9UQE7,Q9NX14,Q8IY17,Q9H9Y6,O75845,Q15022,Q9UBM7,Q86W42,Q9BXW9,P46100,Q13428,Q96PY6,P19022,Q14683,Q6KC79,Q9Y3Z3,O43172,O43837,O75695,Q14839,Q9NVI7,O75530,Q96T58,O95470,Q8TCJ2,Q6P2Q9,Q9H7N4,Q9Y4P3,O14936 53 |
| Polygenic inheritance 0.6800399798250316 1.5658111269423758 0.1173928405379589 1.0 0.4181204771196953 6 P11274,P50454,P35658,O60934 4 |
| Early onset of sexual maturation 0.3734985812554187 1.565631972745722 0.1174348004015382 1.0 0.4181204771196953 43 Q7Z5J4,Q14669,Q9UBM7,Q9ULC3,Q9UGU0,Q9UIG0,P48735,Q6ZRS2,Q96T58,O00571,P02545,P55011,O96028,Q9Y4P3,O14936 15 |
| Ulnar deviation of the hand 0.7677045954797719 1.5643216290747617 0.1177420551746806 1.0 0.4181747876388888 3 Q9NW13 1 |
| Noncompaction cardiomyopathy 0.767340186471251 1.5628142635404951 0.118096288267083 1.0 0.4185467630616805 3 Q15233 1 |
| Abnormal csf metabolite level 0.3610852048716435 1.5628137133630042 0.1180964177120471 1.0 0.4185467630616805 59 P31040,O75251,P53597,P55265,O43819,O95831,P82930,Q9NX14,Q9NPL8,P00846,Q7L0Y3,O43678,Q15046,P11166,Q9Y3Z3,O95299,P51608,P30038,P08559,Q8NI60,Q9BU61 21 |
| Abnormality of upper lip vermillion 0.2950193366394675 1.5609683400676615 0.1185312210908053 1.0 0.418719485998937 131 Q03164,Q15058,Q92643,P29372,Q96F07,Q6NUK1,Q7Z5J4,Q9Y4W2,O60216,Q9Y4A5,P51532,Q9UHB7,O14497,Q7Z3K3,Q8WVX9,Q9H2P0,Q9UQE7,Q9H490,Q86W42,Q69YQ0,P11274,O60341,P46100,Q00839,Q8TAQ2,Q96JM3,P19022,P11166,Q14683,Q6KC79,Q15233,Q9UGU0,P61978,P51608,Q4J6C6,Q96GM5,Q96T58,P11233,O60281,Q5H8A4,Q68CP9 41 |
| Motor axonal neuropathy 0.4957673478315713 1.5585463745571495 0.1191037837481834 1.0 0.4200982732051457 16 Q9Y6X9,P09651,O15269,O95831,Q8IY17 5 |
| Horizontal pendular nystagmus 0.7661693177552288 1.5579702549824417 0.1192402994191241 1.0 0.4201153247797036 3 P00846 1 |
| Aplasia hypoplasia of the tongue 0.6414580913513669 1.5577569244268694 0.1192908807237813 1.0 0.4201153247797036 7 O15078,Q03252,Q96J42,Q9UBM7 4 |
| Myoclonic spasms 0.615759897907175 1.5559508824712411 0.1197197725644425 1.0 0.4207670799574147 8 P00846 1 |
| Abnormal epidermal morphology 0.4459295829690433 1.550756276779658 0.1209601023302215 1.0 0.4240502446709669 22 O15446,Q02487,P78536,Q06136 4 |
| Regional abnormality of skin 0.2911611691106011 1.5502726687064554 0.1210760844348213 1.0 0.4241343079365701 138 Q14126,Q01831,P02545,O96028,Q06136,Q14669,P42166,P42167,P78536,Q9UIG0,Q96AY3,O15446,P55011,Q9H2P0,Q9UQE7,Q02487,Q8IY17,P62266,P55795,Q9UBM7,Q69YQ0,Q99828,Q14739,Q14683,Q6KC79,Q9Y2U8,Q9UGU0,P61978,P98175,Q99567,O60281,O60832,Q9Y4P3,Q8WVM7 34 |
| Abnormal muscle fiber morphology 0.3251840544522844 1.547381750368387 0.1217712192230382 1.0 0.4249902285210526 75 P00846,Q99720,P09651,Q86U42,Q70HW3,P43243,P22626,O14979,P50402,O95831,P02545,P53007,Q96RR1,Q5JPH6,P54098,P23786 16 |
| Dermal atrophy 0.3962766344915134 1.5451937604466102 0.1222994031507336 1.0 0.4256905047065529 31 P40818,Q9Y2U8,P17252,Q96T58,Q01831,Q15334,P02545,O60832,Q9NX14,P23229 10 |
| Ascending tubular aorta aneurysm 0.7108819873747574 1.5449787958913566 0.1223513923505819 1.0 0.4256905047065529 5 Q06787 1 |
| Dysgammaglobulinemia 0.676374442793463 1.5444501727481217 0.1224793133687369 1.0 0.4258142040949302 2 O60934 1 |
| Upgaze palsy 0.7102308126097722 1.5421033758111578 0.1230484747606681 1.0 0.4271486962700905 5 Q96RR1,P54098 2 |
| Neoplasm of the endocrine system 0.3786882774205882 1.540045190636811 0.123549338359898 1.0 0.4282424434880675 39 P40818,Q96GM5,Q9UER7,P46100,P51532,Q14697,P48735,Q8TAQ2,O14497,P02545,Q68CP9,P35240 12 |
| Abnormal ureter physiology 0.3698109184840658 1.5363172188909682 0.1244605984224997 1.0 0.4307532723181111 47 Q9Y4P3,P31040,P62913,Q9UBM7,Q15058,Q14839,P61978,Q9BYW2,Q9Y4A5,Q9UIG0,P46100,Q9UHB7,Q00839,Q9UQE7,Q14683,Q6KC79 16 |
| Increased serine family amino acid in urine 0.6361653788211243 1.5318295517718763 0.1255645015546318 1.0 0.4323019807071342 7 P11310,P30038 2 |
| Premature rupture of membranes 0.6723111201286528 1.529966733643375 0.1260249634116972 1.0 0.4326837878833305 6 Q02809,P50454,P02545,Q8NC56 4 |
| Sleep apnea 0.4273150745868801 1.5299076650410397 0.126039585806593 1.0 0.4326837878833305 25 Q7Z5J4,Q9H0U9,Q9UHB7,P51530,Q7Z3K3,P53007,Q4G0N4,Q15233 8 |
| Impaired pain sensation 0.4630962291536433 1.5286376774441628 0.1263542901793513 1.0 0.433402736403876 19 P61978,P51608,O15269,Q96JM3,O95831,Q14683 6 |
| Ureteral stenosis 0.745569533915208 1.527415600933473 0.1266576994960837 1.0 0.4341204421389933 4 Q9UBM7 1 |
| Melena 0.7450488793725031 1.525228151835542 0.1272022011749747 1.0 0.4353386047647443 4 Q9UER7,P46100 2 |
| Cryptorchidism 0.2697591304675363 1.52311992868274 0.1277287038455639 1.0 0.4364931984640842 194 P37268,Q03252,Q9ULC3,Q9H0U9,Q9BYW2,Q8WWQ0,P29372,Q01831,P32322,Q96J42,P63000,O96028,Q9Y6N7,Q14669,Q9Y4W2,Q9Y4A5,Q9UIG0,P51532,Q9UHB7,O14497,Q04721,P55011,Q9H2P0,Q9UQE7,Q8IY17,Q96PU5,Q9UBM7,Q15022,Q69YQ0,Q9BXW9,O60341,P46100,Q13428,Q9BRT2,Q8TAQ2,Q14683,Q6KC79,Q06787,Q15233,Q14839,Q9UGU0,P61978,P98175,P51608,Q96GM5,Q9NVI7,Q6ZRS2,Q96T58,Q8TCJ2,Q99567,Q5H8A4,O60832,Q9Y4P3,Q68CP9,Q8WVM7 55 |
| Abnormality of the pinna 0.2730590207162539 1.52179519081765 0.1280604068867121 1.0 0.437133305082536 234 P14923,Q9P273,P37268,P62913,Q15427,P20700,Q9ULC3,Q92643,Q8WWQ0,P32322,P61313,P38159,P02545,P63000,Q8ND04,O96028,Q92925,Q06136,P23786,Q14669,Q7Z5J4,Q9Y4W2,O14974,O60216,P18583,Q9UIG0,Q96TA2,Q9UHB7,O95602,Q96ST3,O14497,Q04721,Q8NI27,P55011,Q9H2P0,Q9UQE7,Q9NX14,P08754,P55201,P36551,Q8WVX9,P10586,Q5T8D3,P62266,Q8IY17,Q9H9Y6,Q15022,Q16134,O60568,Q69YQ0,Q96N67,P11274,P46100,Q13428,Q02809,P19022,Q96A33,O60934,P11166,Q14683,Q6KC79,Q06787,Q14839,Q9UGU0,P61978,P98175,P51608,Q96GM5,O75530,P54886,Q96T58,Q8N201,O60281,Q5H8A4,Q9Y4P3,O14936 76 |
| Scleroderma 0.7051294580828332 1.5195623021325213 0.1286210185231873 1.0 0.437133305082536 5 Q9Y2U8,P02545 2 |
| Central diabetes insipidus 0.6710252600297189 1.519349295523537 0.1286745976132319 1.0 0.437133305082536 2 O76024 1 |
| Fibrosarcoma 0.6710252600297189 1.519349295523537 0.1286745976132319 1.0 0.437133305082536 2 Q13126 1 |
| Progressive visual field defects 0.6710252600297189 1.519349295523537 0.1286745976132319 1.0 0.437133305082536 2 O43395 1 |
| Retinal perforation 0.6710252600297189 1.519349295523537 0.1286745976132319 1.0 0.437133305082536 2 P04439 1 |
| Severely reduced visual acuity 0.6710252600297186 1.5193492955235353 0.1286745976132324 1.0 0.437133305082536 2 O15078 1 |
| Limited elbow extension 0.5583641565814315 1.5185541333930266 0.1288747637204585 1.0 0.4374909136607615 10 Q15427,Q6KC79 2 |
| Syncope 0.5064423459887752 1.5175433107109235 0.1291295671941572 1.0 0.4380333368396357 14 P14923,P24468,P02545,Q02487,Q99959,P35240 6 |
| Ureteral obstruction 0.704464670523802 1.5166229567335583 0.1293619059427639 1.0 0.438498813526575 5 Q9UBM7 1 |
| Abnormality of the external nose 0.2727689052433311 1.5135904857660918 0.1301297356877446 1.0 0.4404538043469184 238 Q03164,P29372,Q01831,P32322,Q8NC56,Q9Y4W2,O43292,Q9UHB7,O95831,Q04721,Q9UQE7,P55795,Q9UBM7,Q8NB90,O60341,Q8TAQ2,P11166,Q6KC79,Q9UGU0,P61978,P98175,P51608,Q96T58,O60281,Q8WWQ0,P51530,Q96J42,P63000,Q8ND04,P55265,Q8WWY3,P23786,Q7Z5J4,Q9Y4A5,P51532,O00571,O14497,O15078,Q9H2P0,O94906,Q86W42,Q15643,P46100,O60934,Q06787,Q8N201,O14936,Q15058,P38159,P02545,O96028,Q9H936,Q6NUK1,O60216,Q96ST3,P10586,Q8WYQ5,Q15022,O60568,P11274,P17252,Q96A33,Q14683,O43172,O43837,Q96GM5,O75695,P54886,P11233,Q68CP9,O43395,Q12797,Q9Y3B2,Q7Z3K3,Q96N67,Q9NVI7,Q6ZRS2 77 |
| Small nail 0.3664896004429358 1.5110575003023865 0.1307738015379267 1.0 0.4420435792558512 49 Q9NPE3,Q15022,Q12768,Q14739,O60341,Q9BYW2,Q9Y4A5,Q9UIG0,P51532,Q96GM5,Q9UHB7,Q96T58,Q8TAQ2,Q9Y4P3,Q68CP9,P23786 16 |
| Abnormal number of granulocyte precursors 0.6689450222882626 1.5095811126435403 0.1311503437553116 1.0 0.4421351638099288 2 Q07020 1 |
| Menorrhagia 0.7541284211821364 1.5080930459262318 0.131530714777484 1.0 0.4421351638099288 3 P40818 1 |
| Widely spaced incisors 0.7401578599712191 1.5046685362781038 0.1324093161517014 1.0 0.4440465907764802 4 P46100 1 |
| Pollakisuria 0.7401129943502831 1.5044798538580886 0.1324578568302499 1.0 0.4440465907764802 4 O60934,Q8WVX9,Q06787 3 |
| Abnormality of hindbrain morphology 0.2681453038351838 1.504161765145079 0.1325397199367541 1.0 0.4440465907764802 293 P20700,P00374,Q9NQT5,Q99720,O43292,P51649,Q04721,Q9UQE7,P00846,P55795,P42356,Q9UBM7,O60341,Q5T440,O75787,Q8TAQ2,Q6KC79,O15121,P98175,Q99567,O60281,O60832,Q9Y4P3,Q12768,Q9Y4I1,Q8N2K0,Q96J42,P63000,O60508,Q5JTZ9,P23786,Q9H9P8,Q9Y320,Q9Y4A5,P51532,O14497,O15078,P09543,Q9ULH0,Q06787,Q9Y2U8,Q8TCJ2,Q8N201,Q15334,O14936,P31040,Q15058,Q9BYW2,Q92643,Q96F07,O96028,Q9H936,Q9Y4W6,Q6NUK1,O14974,O60216,O00567,Q9UIG0,Q8NFH4,Q8NI27,Q8IY17,Q9H490,Q69YQ0,Q9Y6X9,O75477,P51572,Q9BVA1,Q14683,P54098,P35240,Q96JX3,Q96GM5,Q5H8A4,Q68CP9,Q96RR1,Q4G0N4,P35658,P35251,Q96TA2,Q9Y3B2,Q7Z3K3,P18583,P02792,Q96N67,P53007,Q15043,Q15233,Q14839,Q9NVI7,P07942,Q7L2E3 91 |
| Abnormal arachnoid mater morphology 0.5556530116024045 1.5033365159997605 0.1327522882220531 1.0 0.4444357652168952 10 Q9NQH7,Q68CP9 2 |
| Abnormal urine magnesium concentration 0.6665676077265983 1.498413140073256 0.1340259445301539 1.0 0.4473969707629921 2 P29992 1 |
| Abnormality of the cerebrospinal fluid 0.2849337867981771 1.4978452043786417 0.1341734730267449 1.0 0.4473969707629921 144 Q15427,Q03252,Q12768,P20700,P53597,P32322,Q96J42,O96028,P55265,O60508,P23786,O43819,O00459,O95831,Q04721,P82930,P55011,O15078,Q9NX14,Q9NPL8,P02792,Q9H490,P00846,Q9BXW9,Q9UBM7,O43678,Q9NZJ7,Q00839,P11166,Q14683,P54098,P35240,O95299,P51608,P30038,P07942 36 |
| Primary amenorrhea 0.3910640031374157 1.497739333573629 0.1342009881925792 1.0 0.4473969707629921 31 O60216,O75616,Q15031,Q8WWQ0,Q9H7N4,Q9Y6N7,Q8N5K1,Q16740,Q9UQE7,Q96RR1,Q14683,P54098,Q6KC79,Q9UJA3 14 |
| Abnormal consumption behavior 0.3997581864779722 1.4976696872142097 0.1342190912288976 1.0 0.4473969707629921 29 Q96GM5,Q9BYW2,P53007,P51532,Q96T58,Q8TAQ2,O14497,Q8N5K1,Q9H2P0,P35610,Q68CP9 11 |
| Aplasia hypoplasia of toe 0.379010362885299 1.4952480383691449 0.1348497205948282 1.0 0.4488869150908835 36 Q14669,Q15427,Q69YQ0,Q03164,Q9UBM7,Q9UGU0,Q04721,P02545,O96028,Q5H8A4 10 |
| Ureteral duplication 0.6287023232177299 1.4952054968845157 0.1348608193928142 1.0 0.4488869150908835 7 Q9BYW2,Q96J42,P23786 3 |
| Abnormal circulating nitrogen compound concentration 0.3620508014792484 1.494155224989592 0.1351350524642711 1.0 0.4494751745023737 53 O43772,P49411,P11310,P51608,P35610,P23786 6 |
| Rhizomelia 0.5104058692965172 1.493418752368631 0.1353276072957645 1.0 0.4495406947663993 13 Q9UBM7,Q03164 2 |
| Generalized limb muscle atrophy 0.6033474388894429 1.492402405243714 0.1355936848783885 1.0 0.4500265567238092 8 Q9Y2U8,Q8IY17 2 |
| Aplasia hypoplasia of the ribs 0.4226148444687883 1.4915839893522318 0.1358082380219845 1.0 0.4504143721448551 25 Q15427,Q03164,Q15643,Q96T58,Q96HY6 5 |
| Aplasia hypoplasia of the phalanges of the hand 0.3597794546758207 1.4906372460345412 0.1360567599950801 1.0 0.4504988898681477 55 Q9BXW9,Q03164,Q9ULC3,Q14739,P51608,Q15643,P51532,Q04721,P02545,Q14683,Q6KC79 11 |
| Male pseudohermaphroditism 0.6637905385301776 1.490370335360532 0.1361268879796811 1.0 0.4504988898681477 6 P46100,O15078,Q8IY37,Q96J42,Q9NX14 5 |
| Motor neuron atrophy 0.4328086136274007 1.4881469537063483 0.1367121430832021 1.0 0.4514749659284022 23 Q99720,P09651,Q9NW13,P43243,Q92804 5 |
| Cystic liver disease 0.6632568571729363 1.487887625844916 0.1367805315405958 1.0 0.4514749659284022 6 Q96J42,Q14697 2 |
| Fatty replacement of skeletal muscle 0.627128894644656 1.4874749322481355 0.1368894191542757 1.0 0.4514749659284022 7 P09651 1 |
| Skeletal dysplasia 0.3656327513467441 1.4854893007702208 0.1374142555422919 1.0 0.4514749659284022 44 Q9Y2U8,Q14807,Q15427,Q15643,Q8WWQ0,Q13428,Q9NUQ7,O95831,Q96HY6 9 |
| Premature ventricular contraction 0.6266997520206743 1.4853659390516072 0.1374469132821345 1.0 0.4514749659284022 7 P14923,Q14126,O43772,P19022 4 |
| Abnormal thyroid morphology 0.3779440274664424 1.4849859748947287 0.1375475393921905 1.0 0.4514749659284022 36 O14654,Q96GM5,P51532,P48735,Q13428,Q68CP9,P02545,Q96RR1,P54098 9 |
| Protrusio acetabuli 0.7485136741973786 1.4847991615881455 0.1375970340844696 1.0 0.4514749659284022 3 O75718,Q96AY3 2 |
| Overgrowth 0.6966864801944131 1.4822013681627224 0.1382867226546933 1.0 0.4529272729807531 5 P61978,Q9BYW2,Q15022 3 |
| Curly eyelashes 0.6620053555489229 1.482064431452815 0.1383231517774159 1.0 0.4529272729807531 6 O60216,Q9UQE7,Q14683,O60885,Q6KC79 5 |
| Ovotestis 0.6630014858841021 1.481652986875456 0.1384326524142909 1.0 0.4529272729807531 2 Q9NX14 1 |
| Atrophy degeneration involving the caudate nucleus 0.696297863396636 1.4804801714175468 0.1387451485555781 1.0 0.4536277552065357 5 P00846,P02792 2 |
| Erythema 0.4317207246179899 1.4795779097193344 0.1389859253442698 1.0 0.4538364384868683 23 Q01831,Q06136 2 |
| Abnormality of pain sensation 0.4035987997285368 1.477382233200479 0.1395732059338916 1.0 0.4550441862484021 28 Q7Z5J4,P31040,P61978,P51608,O15269,P30038,O95831,Q96JM3,Q8WVX9,Q14683,Q06787 11 |
| Tongue atrophy 0.7335711583598054 1.476951999594974 0.1396885045749853 1.0 0.4550968181629069 4 O00567,Q9Y6X9 2 |
| Irregular epiphyses 0.6953428694260322 1.4762499257910584 0.1398768112723147 1.0 0.4550968181629069 5 Q9NUQ7,Q15643 2 |
| Short nose 0.2940829042168253 1.472889162210152 0.1407809248697129 1.0 0.4573643859403641 103 Q03164,P20700,Q12768,Q8WWQ0,Q6NUK1,Q14669,Q7Z5J4,O14974,O60216,Q9Y4A5,Q9UIG0,P51532,Q9UHB7,O95602,Q96ST3,O14497,Q8WVX9,Q9H2P0,Q9UQE7,P18583,Q9H490,Q69YQ0,Q15643,P46100,Q8TAQ2,Q14683,Q6KC79,Q9UGU0,Q96GM5,Q9NVI7,Q8N201,Q9Y4P3,Q68CP9,O14936 34 |
| Abnormal glucose homeostasis 0.2656108153192003 1.4712701613091683 0.1412180694639866 1.0 0.4584614790344917 183 Q9NPE3,Q9Y399,Q03252,P11310,Q9BYW2,O75251,Q8WWQ0,O75879,P53597,O43395,O76024,Q16822,P02545,P63000,Q8NC56,P55265,Q9Y6N7,Q96RR1,Q8WWY3,Q06136,P23786,P49748,O43772,Q9UIG0,Q9UHB7,Q9Y2R9,Q7Z3K3,O94906,P35610,Q9NX14,P09622,Q9NPL8,Q8IY17,P00846,Q16134,P17252,Q9NP81,P00367,P16219,P54098,Q06787,Q16836,P40818,Q9Y2U8,Q5JRA6,Q96JX3,O43172,O43837,O75695,Q4G176,Q4J6C6,Q6P2Q9,Q8N5K1,O60832,P22695,Q9Y4P3,Q9BU61 57 |
| Atrophy degeneration involving the corticospinal tracts 0.506438598296047 1.4686163091880071 0.1419368887063414 1.0 0.460315213404648 13 P00846,Q9Y4P3,Q9UIG0,Q12768 4 |
| Atrophy degeneration involving the spinal cord 0.5735198799507184 1.465464628925557 0.1427941958612888 1.0 0.4626010139989751 9 Q96RR1,Q8IY17,P54098,Q9Y6X9 4 |
| Abnormality of the wrist 0.3894834370535481 1.4624948936064006 0.1436056426444629 1.0 0.4641271892077334 30 P51608,Q9BYW2,Q15643,Q9NUQ7,O75367,O95831,P02545 7 |
| Abnormal upper motor neuron morphology 0.548050479179893 1.4605906462615244 0.1441278147824465 1.0 0.4641271892077334 10 P43243,Q99720 2 |
| Abnormal ossification involving the femoral head and neck 0.7296524905602024 1.460447832185295 0.1441670350656771 1.0 0.4641271892077334 4 Q9NUQ7 1 |
| Aplasia cutis congenita 0.5201079941644329 1.4604378521345285 0.1441697761406708 1.0 0.4641271892077334 12 O96028,Q14692 2 |
| Morphological abnormality of the corticospinal tract 0.4811128134246303 1.4603607961562592 0.1441909413275355 1.0 0.4641271892077334 16 P00846,Q7Z5J4,Q12768,Q13148,Q9UIG0,Q9Y4P3 6 |
| Calvarial hyperostosis 0.6913783824487217 1.458680759508443 0.1446529941487346 1.0 0.4647040439203252 5 P22626,P09651 2 |
| Broad palm 0.6210838279328155 1.457746616374572 0.1449103976205799 1.0 0.4652067778766527 7 Q14739,Q69YQ0,O95831 3 |
| Biconcave vertebral bodies 0.6202406281011809 1.45359659248496 0.1460581821993516 1.0 0.4670019250728194 7 P32322,Q14807,Q04721,Q96AY3 4 |
| Abnormality of the maxilla 0.3759601053753967 1.4520685375257634 0.146482549120718 1.0 0.4671818261196696 35 Q9NPE3,Q15427,Q9H9Y6,Q9ULC3,Q14739,P17252,Q6ZRS2,Q12959,O95602,Q13428,O60832,P18583,Q6NUK1 13 |
| Lambdoidal craniosynostosis 0.7402487656126913 1.4504746765336245 0.1469261959313681 1.0 0.4671818261196696 3 Q9ULC3 1 |
| Upper extremity joint dislocation 0.4424294454956259 1.4500757383200595 0.1470373999052705 1.0 0.4671818261196696 20 Q14807,Q96PU5,Q6ZRS2,O75367,Q6ZXV5,Q04721,Q14683,Q6KC79 8 |
| Abnormality of the radial head 0.594888366457156 1.4489667805587951 0.1473468598493603 1.0 0.4671818261196696 8 Q14807,Q6ZRS2,Q6KC79 3 |
| Cheilitis 0.6547834810570208 1.4484311129172671 0.1474965186795729 1.0 0.4671818261196696 6 Q02487 1 |
| Stereotypy 0.3258323003661895 1.4477768692032582 0.1476794637627521 1.0 0.4671818261196696 72 Q03164,P20700,O14646,O96028,Q96F86,Q7Z3K3,P55011,Q9H2P0,Q96N67,Q8NB90,Q96JM3,P11166,Q14683,Q06787,Q96N66,P51608,Q6PJT7,Q96T58,Q9NUQ7,Q68CP9 20 |
| Abnormal upper limb bone morphology 0.2959832488700532 1.4474918878394998 0.1477592068288125 1.0 0.4671818261196696 100 Q15427,Q9ULC3,P53597,P02545,O96028,Q14669,Q14807,Q9UIG0,Q96AY3,Q9UHB7,O75367,Q04721,Q9H2P0,P55011,Q9UQE7,Q32P28,Q15022,Q9UBM7,Q9BXW9,Q14739,Q15643,Q14683,Q6KC79,Q15233,Q9UGU0,P98175,Q6ZRS2 27 |
| Diminished ability to concentrate 0.7393436615009679 1.446713393148502 0.1479772117900815 1.0 0.4671818261196696 3 P54098 1 |
| Abnormality of mouth shape 0.3150435108631839 1.4466748279416457 0.1479880177434047 1.0 0.4671818261196696 76 P63000,O96028,Q7Z5J4,Q14669,O60216,Q9UHB7,Q96ST3,Q7Z3K3,Q04721,Q8WYQ5,P55201,Q9UQE7,P18583,Q9H490,P62266,O60568,O60341,P34897,P46100,Q96JM3,Q14683,Q15233,Q6KC79,Q9Y2U8,P61978,Q96GM5,Q9UGU0,Q6ZRS2,Q8N201,Q5H8A4 30 |
| High anterior hairline 0.4371947021973978 1.4455751792447065 0.1482963925601805 1.0 0.4676103759934558 21 Q86W42,Q69YQ0,O60341,Q9BYW2,Q92643,P29372,Q96T58,Q9H2P0,O96028,Q5H8A4 10 |
| Impaired distal proprioception 0.7254262782039997 1.4426372103468412 0.1491226954965463 1.0 0.4687345141957742 4 P54098 1 |
| Phthisis bulbi 0.687685901249277 1.4423059099267168 0.1492160937017494 1.0 0.4687345141957742 5 Q9UQE7,O60216,Q6KC79,Q14683 4 |
| Short phalanx of the thumb 0.6178404661339365 1.4417793066550568 0.1493646423760504 1.0 0.4687345141957742 7 O60216,P21333,Q9UQE7,Q14683,Q6KC79 5 |
| Irregular menstruation 0.6530946516826728 1.4405589658897693 0.1497093201145001 1.0 0.469177407020969 6 Q9BYW2,P02545,Q06787 3 |
| Abnormal morphology of myocardial trabeculae 0.7246506095747797 1.439367105761226 0.1500465390695198 1.0 0.4698631482311434 4 P14923,P31040,Q15233 3 |
| Abnormal sacrum morphology 0.3822761274679671 1.4390654574453956 0.15013197773199 1.0 0.4698631482311434 32 Q03164,Q9ULC3,Q14739,P61978,Q9BYW2,Q9UIG0,O96028,Q9NX14,Q5H8A4 9 |
| Microphallus 0.7243532560214072 1.438113413055264 0.1504018774750752 1.0 0.4699321245621529 4 Q96ST3,Q9Y4A5,Q8NI27 3 |
| Abnormal visual field test 0.6521677063440096 1.4362371245298309 0.1509348784978021 1.0 0.4707779363158782 6 P00846 1 |
| Abnormality of the epididymis 0.6528974739970294 1.4341189988599632 0.1515383070652227 1.0 0.4718831967169486 2 Q6ZRS2 1 |
| Ectrodactyly 0.4594786113506517 1.433915719288115 0.1515963154745772 1.0 0.4718831967169486 18 O96028,Q99720,Q9UBM7,Q9Y6X9 4 |
| Abnormal meningeal morphology 0.4353901231759156 1.4318168704764096 0.1521962378182617 1.0 0.4734309422012056 21 Q9NQH7,Q14697,Q96ST3,O15078,Q96PY6,Q14683,O75845,P18583,Q68CP9 9 |
| Premature graying of hair 0.5670943021240024 1.4309193588933249 0.1524533281141129 1.0 0.4739108851018615 9 O60832,Q9Y4I1,Q13126,P02545 4 |
| Xerostomia 0.476579074502147 1.429885486814108 0.1527498880910918 1.0 0.4740867372411375 16 P09651,Q13148,Q14739,P43243,Q92804,P55011 6 |
| Encephalopathy 0.2917437939090166 1.428517537522206 0.1531429504516823 1.0 0.4741051601693034 108 P49411,P53597,Q96F07,Q96RR1,Q4G0N4,P23786,O43772,Q15067,P09622,Q9NX14,Q9NPL8,Q96N67,Q5T440,O75746,Q9NZJ7,Q00839,P16219,Q8TD30,P53007,P11166,Q16836,Q96JX3,Q9NVI7,P51608,P30038,Q4G176,Q8WVM7 27 |
| Hypoplastic fingernail 0.4676662807363922 1.428046682512933 0.1532784223159193 1.0 0.4741051601693034 17 Q12768,Q14739,Q96GM5,P51532,Q8TAQ2,Q68CP9 6 |
| Elevated diastolic blood pressure 0.6514115898959892 1.4271236644383838 0.1535442525233774 1.0 0.4741051601693034 2 P35611 1 |
| Elevated mean arterial pressure 0.6514115898959892 1.4271236644383838 0.1535442525233774 1.0 0.4741051601693034 2 P35611 1 |
| Elevated systolic blood pressure 0.6514115898959892 1.4271236644383838 0.1535442525233774 1.0 0.4741051601693034 2 P35611 1 |
| Hepatoblastoma 0.5662946140032602 1.42661598075347 0.153690615327539 1.0 0.4742394489022456 9 Q96GM5,Q8TAQ2,Q68CP9,P51532 4 |
| Bulbous nose 0.3597589574874253 1.4258017350771892 0.1539255799492269 1.0 0.4743673911600793 45 Q06787,Q96N67,Q9UGU0,Q96GM5,Q9Y4A5,Q96T58,P32322,P38159,Q8N201,O60281,Q8ND04,Q9UQE7,P23786 13 |
| Hirsutism 0.3413008857922101 1.425759143780719 0.1539378779122513 1.0 0.4743673911600793 64 Q03252,Q03164,Q9BYW2,P02545,Q92925,Q6NUK1,Q06136,P51532,Q9UHB7,O14497,O15078,Q04721,Q9H2P0,Q9UQE7,P36551,P09543,Q13724,Q8TAQ2,Q14683,Q6KC79,P40818,Q96GM5,Q6ZRS2,Q96T58,Q68CP9 25 |
| Abnormality of the pylorus 0.3686181985091035 1.4244247705727862 0.1543235479325051 1.0 0.4750054510344093 38 Q96PU5,O60216,Q9UBM7,P11274,P50454,P51608,Q96T58,Q6ZXV5,P21333,O96011,P51610,Q6KC79,O60488,Q9UQE7,Q9BZI7,Q14683,O60885,P23229 18 |
| Abnormality of the nasal alae 0.2612582915339365 1.4243298445551975 0.1543510120714848 1.0 0.4750054510344093 172 Q15058,Q8WWQ0,P29372,O43395,Q01831,P63000,Q8WWY3,Q7Z5J4,Q9Y4W2,O43292,Q9Y4A5,P51532,Q9Y3B2,Q9UHB7,O00571,O14497,O95831,Q04721,O15078,Q9H2P0,P10586,Q9UQE7,Q7Z3K3,P55795,Q9UBM7,Q96N67,Q8NB90,O60341,Q15643,P46100,Q8TAQ2,P11166,Q14683,Q6KC79,P61978,Q96GM5,P98175,P51608,Q9NVI7,Q6ZRS2,Q96T58,P11233,O60281,Q68CP9 44 |
| Depletion of mitochondrial dna in muscle tissue 0.6833383562616802 1.423013351884245 0.1547322847167485 1.0 0.4757545824854199 5 P53597,Q96RR1,P54098 3 |
| Central sleep apnea 0.6492817697475056 1.4227768984493758 0.1548008402880976 1.0 0.4757545824854199 6 Q96A33,P53007,Q4G0N4 3 |
| Progressive external ophthalmoplegia 0.5136058108991329 1.4211934367479746 0.1552605322078042 1.0 0.4761336049489237 12 Q96RR1,P54098,P16219 3 |
| Weak voice 0.5893855604078426 1.4206619642191205 0.1554150551231492 1.0 0.4761336049489237 8 P54098,P43243,P02792 3 |
| Shallow orbits 0.5650222269401073 1.419767081822605 0.1556755013311548 1.0 0.4761336049489237 9 P61978,Q8NC56,O60568,P02545 4 |
| Leukonychia 0.6133509498600234 1.4196587763469724 0.1557070449703994 1.0 0.4761336049489237 7 Q02487 1 |
| Abnormality of nail color 0.6133509498600234 1.4196587763469724 0.1557070449703994 1.0 0.4761336049489237 7 Q02487 1 |
| Joint laxity 0.3096795343507477 1.416276077828858 0.1566946890259186 1.0 0.4781703663042999 78 Q9BYW2,Q8WWQ0,P63000,Q96HY6,Q7Z5J4,Q14807,Q9UIG0,P51532,Q96AY3,Q96ST3,O00571,O14497,Q04721,Q8NI27,Q9H2P0,Q7Z3K3,Q32P28,P55795,Q02809,Q8TAQ2,Q96A33,P53007,Q06787,Q15233,P61978,Q96GM5,P50454,Q6ZRS2,Q5H8A4,Q15334,Q9Y4P3,Q68CP9,Q8WVM7 33 |
| Abnormal ovarian physiology 0.3965325949021734 1.416162755910219 0.15672785758911 1.0 0.4781703663042999 28 P40818,Q06787,Q86W42,O75616,O60318,Q8WWQ0,O15078,P02545,O60934,Q96RR1,P54098,Q5JTZ9,Q9UJA3 13 |
| Talipes calcaneovalgus 0.6124548486560162 1.4152411377848364 0.1569978067474406 1.0 0.4786771753344587 7 Q9UBM7,P46100 2 |
| Aplasia hypoplasia of the skin 0.3452803460629499 1.4137273574055442 0.1574419695924036 1.0 0.4791864654332214 61 Q9NPE3,Q14692,Q01831,Q6ZXV5,P32322,P02545,O96028,P23229,Q9NX14,Q96PU5,P17252,Q02809,Q06787,P40818,Q9Y2U8,Q13126,P54886,Q96T58,Q15334,O60832,Q5H8A4 21 |
| Amenorrhea 0.3642001598190234 1.413609194764098 0.1574766800718721 1.0 0.4791864654332214 40 Q92560,O60216,O75616,P35240,Q15031,Q8WWQ0,Q9H7N4,Q9Y6N7,P02545,Q16740,Q9UQE7,Q96RR1,Q9UJA3,Q14683,P54098,Q8N5K1,Q6KC79 17 |
| Occipital encephalocele 0.7182591021349103 1.412408580046021 0.1578296915664498 1.0 0.4799438510035184 4 Q6ZXV5 1 |
| Premature ovarian insufficiency 0.4180033727024304 1.4111315938003106 0.1582058157675265 1.0 0.4807704750746852 24 P40818,Q06787,Q86W42,O75616,O60318,O15078,P02545,O60934,Q96RR1,P54098,Q5JTZ9,Q9UJA3 12 |
| Short foot 0.3896300255468953 1.4081223412223591 0.1590948466203077 1.0 0.4825179229734332 29 Q06787,Q9Y4W2,P51608,Q15643,Q96T58,Q14683,P18583,Q6KC79 8 |
| Self injurious behavior 0.3572299292104849 1.407625961752038 0.1592418557276502 1.0 0.4826462556899853 48 Q7Z5J4,P55795,Q06787,Q9UBM7,Q8NB90,P51649,P46100,Q96T58,Q9H936,Q8TAQ2,Q96JM3,Q7Z3K3,P19022,Q8ND04,O14936,Q6KC79 16 |
| Abnormal toenail morphology 0.3560173016428482 1.4049061514723005 0.1600491871306486 1.0 0.4834468881403846 50 Q9NPE3,P14923,Q15022,P11274,Q14739,O60341,Q9UIG0,Q96GM5,P51532,O75530,Q9UHB7,Q8TAQ2,O14497,P02545,O60832,Q9Y4P3,Q68CP9,P23786 18 |
| Dyscalculia 0.5108883300507667 1.4047705289432235 0.1600895253250649 1.0 0.4834468881403846 12 Q9BYW2,P09651,Q06787 3 |
| Abnormal dental pulp morphology 0.5379968060128892 1.4039123026401568 0.1603449657194464 1.0 0.4834468881403846 10 Q9NPE3,Q7Z5J4,P06748,Q96PY6,O60832 5 |
| Abnormal dental root morphology 0.5379968060128892 1.4039123026401568 0.1603449657194464 1.0 0.4834468881403846 10 Q9NPE3,Q7Z5J4,P06748,Q96PY6,O60832 5 |
| Coloboma 0.35282100888074 1.4022916293885508 0.160828178994359 1.0 0.4843390548219106 54 Q9P273,Q69YQ0,Q9UBM7,Q12768,P61978,Q13428,Q96ST3,O15078,Q7Z3K3,Q04721,Q9H2P0,O96028,Q8N201,Q9NX14,Q8IY17,Q5H8A4,O14936,Q6KC79 18 |
| Aplasia hypoplasia of the phalanges of the thumb 0.5617195057235603 1.4019796202951993 0.1609213325091372 1.0 0.4843390548219106 9 Q9BXW9,O60216,P21333,Q9UQE7,Q14683,Q6KC79 6 |
| Abnormal femoral neck morphology 0.3647090701078356 1.4018633420394413 0.1609560589993854 1.0 0.4843390548219106 39 Q14807,Q9ULC3,Q15643,P46100,Q9NUQ7,O95831,P02545,Q96HY6 8 |
| Reduced circulating prolactin concentration 0.6783672158531954 1.4009381830001535 0.1612325594056396 1.0 0.4848545980821909 5 Q9NW13 1 |
| Supernumerary nipple 0.5100563750292004 1.3997403164816755 0.1615910961142446 1.0 0.4850578135250155 12 P61978,O60341,Q9Y4A5,Q8IY17,Q15233 5 |
| Metabolic acidosis 0.3334180556197937 1.3994625449325868 0.1616743225952088 1.0 0.4850578135250155 67 P49411,P11310,Q5T440,P16219,P35610,P23786 6 |
| Abnormal larynx morphology 0.3945896386805196 1.3993067688262355 0.1617210107132209 1.0 0.4850578135250155 28 Q14807,Q15427,Q69YQ0,P43243,Q9UHB7,P02545,Q96HY6 7 |
| Vocal cord paralysis 0.4452484957470466 1.3988148455849203 0.1618685133093667 1.0 0.4851845554981667 19 P31040,P43243,P50402,P02545,Q8WXH0 5 |
| Limb undergrowth 0.3540154779600989 1.397309309921748 0.1623205774108029 1.0 0.4856626970220851 52 Q15427,Q9UBM7,Q03164,Q14739,Q15643,P48735,Q9UHB7,Q6KC79,Q96HY6 9 |
| White hair 0.6435167440125787 1.3958685681287184 0.1627540774086431 1.0 0.4864080248636746 6 Q9NPE3,O60832,P06748,Q9Y4I1 4 |
| Abnormal neuron morphology 0.3820165567908976 1.3950018860854396 0.1630152708057217 1.0 0.4864080248636746 30 Q99720,P09651,Q9NW13,P43243,Q92804,Q8IY17 6 |
| Sparse body hair 0.5089629649090877 1.3931276616266133 0.163581189670491 1.0 0.4877809083964837 12 Q02487,Q8WWQ0,Q06787 3 |
| Ketoacidosis 0.5599817732394666 1.3926152378272894 0.1637361726398254 1.0 0.4879274440010311 9 P35610,P26440 2 |
| Apnea 0.2999848681251438 1.3910656771892462 0.1642055117337433 1.0 0.489009954194158 92 Q9H0U9,P53597,P51530,Q4G0N4,P23786,Q7Z5J4,O43772,O43819,Q9UHB7,O15078,Q7Z3K3,P08754,P00846,Q13724,P42356,O43678,P53007,P11166,Q14683,Q15233,O95299,P98175,P51608,Q8N5K1 24 |
| Paraganglioma 0.5833071103593193 1.3893562463891675 0.1647244480808667 1.0 0.4896100662239748 8 P31040,Q02978,Q9UER7,P46100,P40926 5 |
| Limb girdle muscular dystrophy 0.5353566942338237 1.3890029639553183 0.1648318487591342 1.0 0.4896100662239748 10 O14979,P09651,P02545 3 |
| Aplasia hypoplasia of the phalanges of the toes 0.7251662329897004 1.3877472844298293 0.1652140121053724 1.0 0.4904292310404166 3 Q9ULC3 1 |
| Metaphyseal cupping 0.7120940391142134 1.3863857671769315 0.1656291401148455 1.0 0.4907135835022094 4 Q15643,O95831 2 |
| Increased nuchal translucency 0.469927471874924 1.3851029659999057 0.1660209851217498 1.0 0.4910166656731303 16 Q9UBM7,P61978,Q9UIG0,Q9UQE7,Q14683,Q6KC79 6 |
| Rhabdomyolysis 0.47747594199942 1.3814473289272104 0.1671414621009059 1.0 0.4932920232299466 15 P49748,O43772,P54098,P23786 4 |
| Sparse or absent eyelashes 0.403604791449175 1.3798402563315002 0.1676358347796638 1.0 0.4942824963584025 26 O60832,Q02487,Q15427,Q13428 4 |
| Abnormal trabecular bone morphology 0.6045098583389708 1.376041642177979 0.1688087412858774 1.0 0.4972576979730957 7 Q9NPE3,O60832,P06748,Q04721 4 |
| Limb muscle weakness 0.3045284359861313 1.3720176033191211 0.1700579578846892 1.0 0.5000708620445655 83 P31040,Q12768,O15269,P50402,P02545,P55265,Q96RR1,Q9Y4W6,Q7Z5J4,Q99720,O43819,Q86U42,Q15067,P50336,Q8IY17,P36551,P00846,Q9Y6X9,O60318,Q14739,Q5T440,Q02809,Q15046,P53007,P54098,P35240,Q7Z406,Q13126,P54886,Q8WXH0,Q92560 31 |
| Impaired vibratory sensation 0.3749351445853541 1.3712006355973962 0.1703124201281829 1.0 0.50008933553562 32 Q12768,P20700,Q96RR1,P07196,O43819,Q15120,Q8WVX9,O00400,P00846,O94905,Q9Y6X9,Q00796,Q02809,O15020,Q8N0X7,Q99700,P54098,Q06787,P54886,P10809 20 |
| Hypertrichosis 0.2881364118402111 1.3700691552662234 0.1706653152007493 1.0 0.5008065582911868 106 Q03164,Q7L2E3,Q8WWQ0,O43819,P51532,Q9UHB7,Q04721,Q9UQE7,Q9H490,P62266,Q15022,Q96N67,Q8NB90,O60341,O43678,Q00839,Q9BRT2,Q8TAQ2,Q14683,Q6KC79,Q9Y2U8,Q96GM5,Q96T58,O60281,Q68CP9,Q8WVM7 26 |
| Neonatal hypotonia 0.3489468629744059 1.369682092779959 0.1707861609802869 1.0 0.5008423677602564 55 Q16836,P31040,P49411,P10412,Q8NB90,Q15233,P51608,Q15067,Q5JPH6,P53597,Q9BRT2,Q14683,Q9H2P0,P18583,Q4G0N4,O14936,P23786 17 |
| Abnormality of the menstrual cycle 0.3488214591060968 1.3682805029586205 0.1712242912475183 1.0 0.5014891884695424 55 Q15031,Q9BYW2,Q8WWQ0,P06748,P02545,Q9Y6N7,Q96RR1,O60216,P49257,Q16740,Q9UQE7,O75616,Q14980,Q14683,P54098,P35240,Q9UJA3,P40818,Q6KC79,Q06787,Q9H7N4,Q8N5K1,Q6UN15,Q92560 24 |
| Inappropriate laughter 0.5552689399283011 1.3672007442868346 0.1715623921320852 1.0 0.50216039855804 9 P51608,P46100 2 |
| Opisthotonus 0.4017936929265154 1.364715844688199 0.1723423776663759 1.0 0.50345608729289 26 P49411 1 |
| Achilles tendon contracture 0.5042160502922401 1.3643993873783484 0.1724419006150701 1.0 0.50345608729289 12 Q8WXH0,Q8N2K0,P50402,P02545 4 |
| Abnormal circulating free fatty acid concentration 0.7062713707267864 1.361793779663926 0.1732629752040817 1.0 0.5052133559081701 4 P49748 1 |
| Abnormality of the proximal phalanx of the thumb 0.7186574786110562 1.360651654049804 0.1736237996101775 1.0 0.5056258472538966 3 Q9ULC3 1 |
| Nevus 0.3713687440585181 1.360057673438656 0.173811673874435 1.0 0.5058534195461778 33 Q9Y2U8,P10412,Q9NW13,Q9UIG0,Q96AY3,Q01831 6 |
| Cranial nerve compression 0.530064053290159 1.3590857820154512 0.1741194076773524 1.0 0.5064293182287665 10 P22626,P09651 2 |
| Abnormality of refraction 0.270128181406107 1.3580721641578288 0.1744407868076221 1.0 0.5070441533311084 155 Q9Y4I1,Q9BYW2,Q8WWQ0,P30533,Q8ND04,Q6NUK1,Q14669,Q7Z5J4,O14974,O60216,P10412,O43819,O43292,Q15067,Q9UIG0,P51532,Q96TA2,Q9UHB7,Q96ST3,O14497,Q04721,Q7Z3K3,P55011,Q9H2P0,Q9UQE7,Q9NX14,P18583,Q9H490,Q9BXW9,Q86W42,O60568,P46100,Q02809,Q8TAQ2,Q9ULH0,Q96JM3,Q96A33,Q14683,Q6KC79,Q15233,Q14839,Q9UGU0,P61978,P98175,Q96GM5,O75695,O75530,P54886,Q96T58,Q9NVI7,Q6ZRS2,Q8N201,Q5H8A4,Q9Y4P3,Q68CP9,O14936 56 |
| Facial hypertrichosis 0.3432982541604735 1.357491037226624 0.1746252393900906 1.0 0.5072604622484675 59 P62266,Q9Y2U8,Q03164,Q96N67,Q7L2E3,O60341,Q8WWQ0,Q96T58,Q9UHB7,Q00839,Q04721,O60281,Q9UQE7,Q14683,Q8WVM7,Q6KC79 16 |
| Abnormal metaphyseal trabeculation 0.6349557577483853 1.3558677158372217 0.1751412611030733 1.0 0.5081190772090424 6 Q9NPE3,O60832,P06748,Q04721 4 |
| Narrow forehead 0.3518333995070908 1.354619041044756 0.1755389637056263 1.0 0.5085292825205787 49 Q9UBM7,Q96N67,P20700,O43292,Q96GM5,P46100,Q96T58,Q9UHB7,Q14683,P55011,Q8TD30,P18583,Q9H490 13 |
| Abnormal endocrine physiology 0.6678717569157043 1.3542861354707687 0.1756451077024097 1.0 0.5085292825205787 5 Q13724,Q9NW13 2 |
| Oromandibular dystonia 0.6670476560684138 1.350620856867662 0.1768169161433364 1.0 0.5097723473550849 5 Q99720 1 |
| Abnormality of the lower urinary tract 0.2654301608016656 1.3498809352546504 0.1770541779443764 1.0 0.5101373502022345 227 Q9NPE3,P37268,P31040,P62913,Q12768,P20700,Q15058,Q9BYW2,P29372,P53597,P22626,P61313,Q96J42,P63000,Q8ND04,P02545,O96028,Q96RR1,P23229,Q9UBX3,O14974,O60216,Q99720,P09651,P24468,Q9Y4A5,Q9UIG0,P50336,P51532,Q9UHB7,Q96ST3,O14497,O15078,Q04721,Q9H2P0,Q9UQE7,Q9NX14,Q8IY17,Q9BXW9,Q9UBM7,Q86W42,Q69YQ0,Q9Y6X9,O60341,O75787,P46100,Q9NZJ7,Q00839,Q8TAQ2,Q15046,O60934,P11166,Q14683,P54098,Q6KC79,Q06787,P35240,Q14839,P61978,Q96GM5,P51608,Q6ZRS2,Q96T58,Q8N5K1,Q5H8A4,O60832,Q9Y4P3,Q68CP9 68 |
| Abnormality of the helix 0.3651982302461713 1.3490660776958243 0.1773157428927614 1.0 0.5102558109264467 35 P62266,Q69YQ0,Q96N67,Q5T8D3,P02545,P19022,P08754,Q14683,P36551,Q6KC79,P23786 11 |
| Tachycardia 0.4050307945352659 1.3476859912360877 0.1777593996416211 1.0 0.5102558109264467 25 P14923,P49748,O43772,Q14126,P50336,P02545,P19022,Q9NX14,Q99959,P36551,P23786 11 |
| Raynaud phenomenon 0.633069103785563 1.3470466174600335 0.1779652192102658 1.0 0.5105287246791075 6 Q14739,P55265,P02545 3 |
| Abnormality of the middle ear 0.2820081059037774 1.346484907615655 0.1781461844693188 1.0 0.5107300437833083 134 P31040,P62913,Q15427,Q9ULC3,Q9BYW2,O43395,P02545,P63000,O96028,Q92925,Q8WWY3,Q6NUK1,Q14669,Q7Z5J4,O60216,Q9UIG0,Q9UHB7,O95831,Q04721,P55011,O94906,Q9UQE7,Q9H9Y6,P62266,Q9UBM7,Q69YQ0,Q14739,Q13428,Q12959,Q96A33,O60934,Q14683,Q6KC79,Q06787,O43172,Q9UGU0,P61978,O43837,O75695,Q6ZRS2,Q96T58,Q5H8A4,Q9Y4P3,Q68CP9 44 |
| Hypoplastic nipples 0.5147649586414444 1.345804500671807 0.1783655735871163 1.0 0.5107651682240261 11 O60216,Q6NUK1,P10586,Q96A33,Q9UQE7,Q14683,O60885,Q6KC79 8 |
| Squamous cell carcinoma of the skin 0.6651042606962494 1.3419763520030097 0.179603663390321 1.0 0.5134566030647647 5 Q01831 1 |
| Head titubation 0.6319515804152034 1.3418207528144486 0.1796541216363265 1.0 0.5134566030647647 6 Q99720 1 |
| Vertebral fusion 0.5268758873616621 1.3410476092718606 0.179904995571595 1.0 0.5137540206217363 10 Q9UHB7 1 |
| Astrocytoma 0.5502706387496753 1.3402210365802785 0.1801734943436643 1.0 0.5137540206217363 9 Q9BYW2,P48735 2 |
| Abnormality of the dorsal column of the spinal cord 0.7136495501641751 1.339796928543853 0.1803113744954236 1.0 0.5137540206217363 3 Q8WVX9 1 |
| Abnormal nipple morphology 0.3373064071283688 1.337635042621374 0.181015435346485 1.0 0.5144766688947571 62 Q12768,Q8WWQ0,O96028,Q6NUK1,P23786,O60216,Q9Y4A5,Q15067,P10586,Q9H2P0,Q9UQE7,Q8IY17,Q9UBM7,O60341,Q5T440,P19022,Q96A33,Q14683,Q15233,Q6KC79,P61978,Q9UGU0,Q5H8A4 23 |
| Cerebellar hypoplasia 0.2826300770030581 1.3368197387394305 0.1812814844860741 1.0 0.5149153687497239 131 Q12768,Q15058,P00374,Q9Y4I1,Q9BYW2,Q96J42,P63000,Q9Y4W6,Q6NUK1,O60508,P23786,O43292,Q9Y4A5,Q96TA2,P51532,Q9Y3B2,O14497,O15078,Q8NFH4,Q8NI27,P18583,Q9H490,P55795,P42356,Q9UBM7,Q69YQ0,Q8TAQ2,Q9ULH0,Q9BVA1,P53007,Q15233,Q96GM5,P98175,Q9NVI7,Q99567,Q8N201,O60281,P07942,O60832,Q5H8A4,Q68CP9,O14936 42 |
| Increased urinary non proteinogenic amino acid level 0.7002610320657112 1.336397711546569 0.1814193139236519 1.0 0.5149895549187411 4 P51649 1 |
| Ambiguous genitalia male 0.712681588264386 1.3357654942071928 0.1816259346477911 1.0 0.5150753986830461 3 Q9H0U9 1 |
| Shyness 0.6999965439646801 1.335279930035048 0.1817847448280511 1.0 0.5150753986830461 4 Q9BYW2,Q06787 2 |
| Delayed ability to walk 0.3219187848663316 1.3346363308140323 0.1819954012049862 1.0 0.5153555279821785 70 Q03252,Q7L2E3,P20700,Q9NYY8,Q6ZXV5,Q7Z5J4,Q99720,O60783,P24928,Q9Y4A5,Q8WVX9,P55011,P55201,P18583,O60341,P34897,Q15046,P53007,Q14683,Q15233,Q96N66,P61978,Q96GM5,Q9UGU0,P51608,P11233,Q5H8A4,O14936 28 |
| Abnormal intraocular pressure 0.595294738991264 1.3305139026176875 0.1833490088173159 1.0 0.5178394718764493 7 P04439,Q12797,P29992,Q92560,Q15043 5 |
| Bifid scrotum 0.6294862638305112 1.330290130567214 0.1834226976886301 1.0 0.5178394718764493 6 Q9UBM7 1 |
| Abnormal hypothalamus physiology 0.5717003053356061 1.329479900699524 0.1836896925962554 1.0 0.5178394718764493 8 Q14683,Q8WWQ0 2 |
| Olivopontocerebellar atrophy 0.6306092124814277 1.3291041704361726 0.1838136045787779 1.0 0.5178394718764493 2 Q99700 1 |
| 2 3 toe syndactyly 0.3703540233128544 1.328793071641016 0.1839162486067076 1.0 0.5178394718764493 32 P37268,Q96PU5,Q9UBM7,P51608,Q9BYW2,P11233,Q9H2P0,Q6KC79 8 |
| Distal muscle weakness 0.3313122250316253 1.3260019203978095 0.1848390612804007 1.0 0.5183139127145057 65 P00846,P35251,Q99720,P09651,Q9Y6X9,Q86U42,O15269,Q5T440,P43243,P22626,O95831,P02545,Q8IY17,P54098 14 |
| Excessive salivation 0.3801643835012626 1.3242096566602963 0.1854334246292719 1.0 0.5193964088053352 29 P55795,P42356,P51608,P46100,O75787,Q96T58,Q8TD30,Q9BVA1,Q15233 9 |
| Severe demyelination of the white matter 0.709878017294861 1.3240883065507032 0.1854737186552966 1.0 0.5193964088053352 3 Q5H8A4 1 |
| Ureterocele 0.6281029879348193 1.3238191976105131 0.1855630987640752 1.0 0.5193964088053352 6 Q9H936,P09471,O14936,P23229 4 |
| Arm dystonia 0.6278308454622764 1.3225460296117018 0.1859863924132232 1.0 0.520265333146213 6 Q99720 1 |
| Lower limb hyperreflexia 0.4162897759311064 1.32085175005615 0.1865508005561644 1.0 0.5215277080436133 22 P40818,P31040,Q14739,P51608,Q5T440,Q8WVX9,Q9Y4W6,P02792,Q15233 9 |
| Hyperglycemia 0.5699304383143861 1.3203402577890315 0.1867214402397543 1.0 0.52168838757895 8 Q9UHB7,P35610 2 |
| Skin tags 0.4248421778300821 1.3179827601517735 0.1875094191199156 1.0 0.5232557034762778 20 Q15427,Q12768,Q13428,Q00839,O96028,P08754 6 |
| Abnormality of the temporomandibular joint 0.7082034665360559 1.3171132436105368 0.187800668436787 1.0 0.5234389611365895 3 P02545 1 |
| Oromotor apraxia 0.6589775387027235 1.3147155901007723 0.1886055050405835 1.0 0.523462599781511 5 Q9BVA1,Q14683 2 |
| Prenatal maternal abnormality 0.49469816713927 1.306711737321032 0.1913106308816661 1.0 0.5300132261805774 12 O43772,P02545 2 |
| Abnormality of circulating enzyme level 0.2900969677451961 1.3049347977293275 0.1919150509116716 1.0 0.5307308846447547 97 P11310,P22626,Q6ZXV5,P50402,P02545,Q96RR1,P23786,P49748,P42166,O43772,P42167,P09651,Q86U42,Q9UIG0,O14979,O95831,P54098,Q16836,P43243 19 |
| Atrial arrhythmia 0.5068640302581745 1.2995492241290345 0.1937555120959819 1.0 0.5351784965622989 11 Q96RR1,P50402,P54098,P02545 4 |
| Abnormal mitochondrial morphology 0.5066802492534451 1.2984725744104866 0.1941249946072574 1.0 0.5353869459466416 11 P53597,O60783,P51530,Q13148 4 |
| Vitreoretinopathy 0.6237741456166432 1.2968838885255092 0.1946711408529429 1.0 0.5355329468943908 2 P35222 1 |
| Retinal neovascularization 0.6237741456166432 1.2968838885255092 0.1946711408529429 1.0 0.5355329468943908 2 P35222 1 |
| Positional foot deformity 0.2865040904050945 1.2946779167061913 0.1954313610592244 1.0 0.5362729610018003 100 Q15427,Q9ULC3,Q9BYW2,Q6ZXV5,P32322,Q96J42,P02545,O96028,Q7Z5J4,O60216,P10412,Q96AY3,O15078,Q8WYQ5,P55201,Q9UQE7,Q15022,P42356,Q9UBM7,Q69YQ0,O60568,P46100,Q02809,Q9ULH0,Q96A33,Q14683,Q6KC79,P40818,P61978,Q9NVI7,P98175,O75530,P54886,Q5H8A4 34 |
| Fetal distress 0.4033901639467259 1.2934513256685003 0.1958550083104371 1.0 0.5363153155540699 24 P62913,Q9NVI7,Q9NPL8,Q96T58,P18583 5 |
| Abnormality of the elbow 0.3400397235063567 1.2926039844519472 0.1961480608402785 1.0 0.5363153155540699 57 P37268,Q8WVM7,Q14807,Q15427,Q03164,Q6ZRS2,Q96AY3,O75367,P32322,P50402,Q04721,P02545,Q14683,Q6KC79,P23786 15 |
| Head tremor 0.4923555635264362 1.292498922238754 0.1961844189288792 1.0 0.5363153155540699 12 P26358,P07196,Q99720,P20700,O00567,P35637,Q01082,Q9Y4W6 8 |
| Decreased circulating gonadotropin concentration 0.6539361952177979 1.2922772205232136 0.1962611577743418 1.0 0.5363153155540699 5 Q8IY17,P35240 2 |
| Abnormal t wave 0.7021333683487324 1.2918283374100887 0.1964165995126097 1.0 0.5364221112281581 3 P51608 1 |
| Skin pit 0.4475881980558531 1.2891614269103482 0.1973419719479847 1.0 0.5379892621817409 17 Q69YQ0,Q9ULC3,P61978,Q99828,O96028 5 |
| Abnormal testis morphology 0.263146929259818 1.2890477911425815 0.1973814723802407 1.0 0.5379892621817409 235 P29372,Q01831,P32322,Q06136,Q14669,Q9UBX3,Q9Y4W2,Q9UHB7,Q04721,P55011,Q9UQE7,Q9NX14,Q9UBM7,O60341,Q13428,Q9BRT2,Q8TAQ2,Q6KC79,Q9UGU0,P61978,P98175,P51608,Q96T58,Q99567,O60832,Q9Y4P3,Q9NPE3,Q03252,Q8WWQ0,Q96J42,P63000,Q8WWY3,Q9Y4A5,P51532,O14497,O15078,Q9H2P0,O94906,Q13724,Q96PU5,P46100,P19022,Q06787,Q8TCJ2,Q9H7N4,P37268,Q9ULC3,Q9H0U9,Q9BYW2,P38159,P02545,O96028,Q6NUK1,O14974,O60216,Q9UIG0,Q96ST3,Q8NI27,Q8WYQ5,Q8IY17,Q9H9Y6,Q15022,Q69YQ0,Q14683,P54098,Q9UJA3,O43172,O43837,Q96GM5,O75695,O75530,P54886,Q5H8A4,Q68CP9,Q8WVM7,O43395,Q9Y6N7,Q9BXW9,Q15233,Q14839,Q9NVI7,Q6ZRS2 82 |
| Preaxial hand polydactyly 0.4778076372806293 1.2888298955951376 0.1974572302844914 1.0 0.5379892621817409 13 O96028,Q9BXW9,Q5H8A4,Q96J42 4 |
| Delayed eruption of primary teeth 0.7009875496955695 1.287055498459071 0.1980749448859997 1.0 0.5385672657883945 3 Q8NC56 1 |
| Tip toe gait 0.7005365658515812 1.285176973231325 0.1987304483266807 1.0 0.5385672657883945 3 O75477 1 |
| Neoplasm of the peripheral nervous system 0.4469158946795512 1.2845023166927907 0.1989662535012586 1.0 0.5385672657883945 17 P31040,Q02978,Q9UER7,P46100,P02545,Q15046,Q92560,P35240 8 |
| Myelomeningocele 0.700356718192623 1.284427840851091 0.1989922967398252 1.0 0.5385672657883945 3 Q96ST3,O75845 2 |
| Absent frontal sinuses 0.7003567181926194 1.284427840851076 0.1989922967398305 1.0 0.5385672657883945 3 P46100,Q04721 2 |
| Abnormality of frontal sinus 0.7003567181926194 1.284427840851076 0.1989922967398305 1.0 0.5385672657883945 3 P46100,Q04721 2 |
| Ovarian cyst 0.4625025549985001 1.2828298101620843 0.1995517078079136 1.0 0.5390623727154771 15 Q9Y4P3,Q9BYW2,Q9UIG0,P02545 4 |
| Mildly elevated creatine kinase 0.4111448474126832 1.2807793750147678 0.2002711704261628 1.0 0.5393183258198188 22 P09651,P43243,P02545,Q96RR1,P54098 5 |
| Abnormality of the voice 0.2771468162841195 1.280740555033704 0.2002848099356897 1.0 0.5393183258198188 137 P31040,P20700,Q9H0U9,Q8WWQ0,P50402,P02545,P55265,Q96RR1,Q96HY6,Q14669,Q7Z5J4,O60216,Q9UIG0,Q96ST3,Q04721,P55011,Q8WYQ5,P08754,Q9UQE7,P02792,P00846,Q15022,P42356,Q69YQ0,Q9Y6X9,O75787,Q12959,P53007,Q14683,P54098,Q06787,Q6KC79,Q15233,Q9Y2U8,Q7Z406,Q9UGU0,P51608,P30038,Q4J6C6,P43243,P50454,P54886,O75530,Q6ZRS2,Q8WXH0,Q9Y4P3 46 |
| Angular cheilitis 0.6868280779770417 1.2796140923802195 0.2006808911582465 1.0 0.5395800916144153 4 Q02487 1 |
| Delirium 0.6199108469539388 1.2786747157759764 0.2010116269802218 1.0 0.5395800916144153 2 Q9UJS0 1 |
| Vertebral arch anomaly 0.6988942158354868 1.2783360728083786 0.2011309539043928 1.0 0.5395800916144153 3 Q96HY6 1 |
| Narrow vertebral interpedicular distance 0.6988942158354868 1.2783360728083786 0.2011309539043928 1.0 0.5395800916144153 3 Q96HY6 1 |
| Abnormal metacarpal morphology 0.3626269760658517 1.2781828817281864 0.2011849505018585 1.0 0.5395800916144153 33 Q14807,Q9BXW9,Q14739,Q15643,Q6ZRS2,Q9UQE7,Q14683,Q6KC79,Q15233 9 |
| Duplication involving bones of the feet 0.4062051287861444 1.2778544453347849 0.2013007529828629 1.0 0.5395800916144153 23 Q9UBM7,Q9ULC3,Q96T58,Q96J42,O96028 5 |
| Torsion dystonia 0.6864000298570075 1.2778044482174178 0.2013183855914955 1.0 0.5395800916144153 4 P11166 1 |
| Abnormal morphology of the great vessels 0.255852199890928 1.2770635038371894 0.201579828370785 1.0 0.5399668848281923 178 P62913,Q15427,Q12768,Q9ULC3,Q9BYW2,P53597,Q6ZXV5,P61313,P02545,P63000,Q8ND04,P55265,Q14669,Q7Z5J4,P24468,O00459,Q9Y4A5,Q9UIG0,P51532,Q14697,Q9UHB7,O95602,O14497,Q04721,P55011,Q9UQE7,Q9NX14,P18583,Q96PU5,Q9UBM7,Q86W42,Q69YQ0,Q9BXW9,Q15643,Q13428,Q8TAQ2,P19022,Q14683,Q06787,Q15233,Q9Y2U8,Q14839,Q9UGU0,P61978,P98175,Q96GM5,Q6ZRS2,Q96T58,Q9Y4P3,Q68CP9 50 |
| Limb dystonia 0.453344064966644 1.27317533554348 0.2029558307181989 1.0 0.5430216944926853 16 Q8NB90,Q14683,Q99720 3 |
| Abnormal conus terminalis morphology 0.5601184440475627 1.2696378665838275 0.2042136545176602 1.0 0.5448242030509172 8 O96028,Q5H8A4 2 |
| Polydactyly 0.3398908107480273 1.2684492268592815 0.2046375715532131 1.0 0.5452143401113094 55 Q7Z5J4,Q9BXW9,Q9UBM7,Q12768,Q9ULC3,Q14739,P61978,O00459,Q15067,P98175,Q96T58,P53597,Q9BRT2,Q96J42,Q9H2P0,O96028,Q8IY17,Q5H8A4 18 |
| High pitched voice 0.5015170944081536 1.2682141646715726 0.2047214799853962 1.0 0.5452143401113094 11 Q9Y6X9,P02545,Q06787 3 |
| Episodic tachypnea 0.5139004113544533 1.2675292554131434 0.204966109696183 1.0 0.5455506730366072 10 P49748,P51608,O15078,Q14683 4 |
| Equinus calcaneus 0.6172362555720665 1.266070377223077 0.2054878869970018 1.0 0.5466238655834844 2 P55084 1 |
| Abnormal pancreas morphology 0.4175352881298012 1.2629722779187469 0.206599142643217 1.0 0.5486302117426441 20 Q9NQH7,Q96T58 2 |
| Recurrent otitis media 0.3946573971439104 1.262543669303525 0.2067532229571673 1.0 0.5487232917861494 25 P62913,Q9UBM7,Q14739,Q9BYW2,Q6ZRS2,Q12959,Q92925,Q06787 8 |
| Lipoatrophy 0.4129634172689365 1.26034495936604 0.2075449478410751 1.0 0.5501910348173412 21 P31040,P42166,Q03252,P42167,Q14126,Q9NW13,P02545,P55265 8 |
| Proximal muscle weakness in upper limbs 0.4511970940285849 1.2586652431487924 0.2081512705128667 1.0 0.5511262656100604 16 Q9Y6X9,P50336,P50402,P02545,Q8WXH0,P36551 6 |
| Abnormality of the nail 0.2792434244225245 1.2586156684851846 0.2081691848372513 1.0 0.5511262656100604 128 Q9NPE3,P14923,Q12768,Q9BYW2,P02545,O96028,Q9H936,Q92925,Q6NUK1,P23786,Q06136,P23229,P78536,Q9Y4A5,Q9UIG0,P51532,Q9UHB7,O15446,O75367,O14497,Q96ST3,Q04721,Q9H2P0,Q02487,Q9NX14,P02792,Q15022,O60568,P11274,O60341,Q14739,Q8TAQ2,Q96GM5,Q96T58,O60832,Q9Y4P3,Q68CP9,O14936 38 |
| Impaired distal vibration sensation 0.5807117357379186 1.2583743900070026 0.2082563893042788 1.0 0.5511262656100604 7 Q96RR1,P54098,Q06787 3 |
| Alopecia 0.3436335585585538 1.2578658433997425 0.2084402783212988 1.0 0.5512964331963212 44 Q9NPE3,P14923,Q9NX24,Q01831,P06748,P02545,Q06136,Q9NW13,P50747,P62304,Q96HP0,Q8IY17,P02792,Q13724,P04080,Q6P1M0,P17252,Q13868,O60832,P29992 20 |
| Proximal amyotrophy 0.4658632936686113 1.257058408306903 0.2087324863090838 1.0 0.5516813459125472 14 O14979,Q9Y6X9,P02545 3 |
| Abnormal blood glucose concentration 0.2861146459125806 1.25680252491935 0.2088251515439034 1.0 0.5516813459125472 98 P49748,O43772,Q96JX3,P11310,Q9BYW2,Q8WWQ0,Q9UHB7,Q9Y2R9,P16219,P02545,Q16822,Q9Y6N7,P35610,Q7Z3K3,Q9NPL8,P23786 16 |
| Central apnea 0.5341272802311519 1.25294517908116 0.2102256583167352 1.0 0.5543758607687586 9 Q9NZJ7,O15078,Q8N5K1,P11166,Q14683 5 |
| Short 1st metacarpal 0.6128308320652152 1.2523389878533433 0.2104463679707868 1.0 0.5543758607687586 6 Q9UQE7,Q14683,Q6KC79 3 |
| Hyperactive patellar reflex 0.5563489878331538 1.2501486578111547 0.211245247952597 1.0 0.5561625317312806 8 P31040,Q5T440,Q15233 3 |
| Babinski sign 0.289153379350749 1.249230453296861 0.2115807965587643 1.0 0.5567280092099908 94 P31040,Q12768,P20700,Q8N2K0,Q96KR1,P55265,Q9Y4W6,P35251,Q99720,O00567,Q15067,O95831,Q8WVX9,Q8IY17,P02792,P09543,P00846,Q9Y6X9,Q5T440,O75477,O75787,Q9NZJ7,Q8TD30,P11166,Q15043,Q13148,O15121,P51608 28 |
| Abnormality of the palm 0.2806809225818694 1.248518963129057 0.2118410682988036 1.0 0.5569371223541266 118 Q9NPE3,P14923,P31040,Q14126,P02545,O96028,Q6NUK1,Q06136,Q7Z5J4,P42166,O60216,P42167,O15446,Q96ST3,O95831,Q8NI27,Q9H2P0,Q9UQE7,Q02487,Q8IY17,P62266,Q69YQ0,O60568,Q99828,P11274,Q14739,Q15643,Q14683,Q6KC79,Q9Y2U8,P61978,P98175,Q99567,O60281,O60832,Q8WVM7 36 |
| Duplication of phalanx of hallux 0.6915664431163663 1.2478180977054507 0.212097679527172 1.0 0.5571340755671016 3 Q9ULC3 1 |
| Abnormal pattern of respiration 0.2575967494914477 1.24735773094128 0.2122663579933077 1.0 0.5572596300393785 195 P11310,Q9H0U9,P53597,P51530,P02545,Q96RR1,Q4G0N4,P23786,P49748,Q7Z5J4,P35658,O43772,P09651,O43819,P24468,Q92804,Q9UHB7,O95831,O15078,Q7Z3K3,Q9H2P0,P35610,Q02487,Q9NX14,P08754,P00846,Q13724,P42356,O43678,Q15643,P46100,Q9NZJ7,P16219,Q14980,P53007,Q969Y2,P11166,Q14683,P54098,Q15233,O95299,Q13148,P61978,P98175,P51608,P43243,Q8TCJ2,Q8N5K1,P22695,O14936 50 |
| Pterygium 0.4711585698541695 1.246943412088813 0.2124182473333618 1.0 0.557340990442116 13 Q9NPE3,Q96AY3,Q01831,Q99567,O60832 5 |
| Coxa vara 0.4847239848254512 1.246169061526439 0.2127023347879495 1.0 0.5574518268177643 12 Q9NUQ7,O95831,Q96HY6 3 |
| Intermittent diarrhea 0.5552313250385746 1.2443692570505702 0.2133636921918968 1.0 0.5583306419553407 8 Q9UER7,P54098,P46100 3 |
| Abnormal central sensory function 0.6430776427167246 1.2439387431846205 0.2135221088432246 1.0 0.5583306419553407 5 O75787,P35240 2 |
| Neuroendocrine neoplasm 0.5090181794673361 1.239834209013967 0.2150367223209552 1.0 0.5613359512455288 10 Q9UER7,P46100,P02545 3 |
| Iris coloboma 0.346790161465402 1.2393733418784163 0.2152072691104547 1.0 0.5614632204862459 40 Q9P273,Q9UBM7,Q12768,Q13428,Q96ST3,O15078,Q7Z3K3,Q04721,Q9H2P0,O96028,Q9NX14,Q8IY17,Q5H8A4 13 |
| Demyelinating peripheral neuropathy 0.4400464922405528 1.23688040027857 0.2161314874745652 1.0 0.5621476003762969 17 P00846,P35251,O15121,P55265,P54098 5 |
| Limb joint contracture 0.27999851069137 1.2367791753731152 0.2161690752739564 1.0 0.5621476003762969 105 P23786,P37268,Q14807,Q15022,Q99720,Q9Y6X9,Q9ULC3,P51608,O00459,Q9BYW2,O75477,Q96T58,Q96AY3,Q8N2K0,P02545,Q6KC79 16 |
| Annular pancreas 0.6766680387949835 1.2366646917636026 0.2162115920930722 1.0 0.5621476003762969 4 Q96T58 1 |
| Cerebellar dysplasia 0.6765055239905853 1.2359778147514775 0.2164668102742162 1.0 0.5621476003762969 4 P42356,P63000 2 |
| Thoracic scoliosis 0.4829553560465509 1.235427435344731 0.2166714674029433 1.0 0.5621476003762969 12 O00459,P02545 2 |
| Flat face 0.3810814879256141 1.235052569380342 0.2168109400149795 1.0 0.5621476003762969 27 P55201,Q15643,P46100,Q03164 4 |
| Acidemia 0.4828268258529615 1.2346467690787946 0.2169619948578427 1.0 0.5622230445725998 12 Q16134,Q9H9P8,Q4G176,P48735,P53597 5 |
| Cleft lip 0.3367597266893832 1.2334607924555552 0.2174038959925208 1.0 0.5630516632165848 55 P14923,P62913,Q15427,O15160,P29372,P61313,O96028,Q7Z5J4,Q9Y4A5,P61353,P62847,O00571,Q9H9Y6,Q69YQ0,Q13428,Q96PY6,O60934,Q14683,Q6KC79,P57740,Q07020,P46777,Q8N3U4,Q8N201,Q5H8A4 25 |
| Abnormality of limb epiphysis morphology 0.3577324998023347 1.2323200006929256 0.2178295714161535 1.0 0.5637482101543602 33 Q9ULC3,Q15643,Q9NUQ7,O95831,O96028 5 |
| Limb myoclonus 0.6085045578829639 1.2320847673408684 0.2179174209316854 1.0 0.5637482101543602 6 O00567,P51608,P11166 3 |
| Bloody diarrhea 0.57489994225729 1.2296087345277773 0.2188436576181693 1.0 0.5655020452236197 7 Q9UER7,P46100,P78536 3 |
| Increased circulating acth level 0.6396711611820382 1.228775300768296 0.2191560644792849 1.0 0.5655020452236197 5 Q9UER7,P46100 2 |
| Lower limb pain 0.6077180016092758 1.2284024523135353 0.2192959277609749 1.0 0.5655020452236197 6 P00846,O75477,Q8WVX9 3 |
| Congenital sensorineural hearing impairment 0.6075553009307852 1.2276407653451125 0.2195818516898398 1.0 0.5655020452236197 6 Q16740,Q15046,Q8WWQ0,P63000 4 |
| Abnormality of urine catecholamine concentration 0.5744799607233537 1.2275299363026806 0.2196234772583709 1.0 0.5655020452236197 7 P11388,P31040,P40926,Q02978 4 |
| Retinal hamartoma 0.5744799607233537 1.2275299363026806 0.2196234772583709 1.0 0.5655020452236197 7 Q02978,P31040,P40926,P35240 4 |
| Bulbar signs 0.4680098208841777 1.2270996894784858 0.2197851245711044 1.0 0.5655020452236197 13 P00846,P43243,Q99720 3 |
| Abnormal epiphyseal ossification 0.4375869670680688 1.2198253176583314 0.222531101637359 1.0 0.570758923430409 17 Q14807,Q9UBM7,Q96HY6 3 |
| Increased muscle lipid content 0.5053644091158261 1.219100496068278 0.2228060516501009 1.0 0.570758923430409 10 P31040,P53597,Q8NI60,Q9Y4W6,P23786 5 |
| Abnormal cartilage morphology 0.4802670380944384 1.2190980402478004 0.2228069836412571 1.0 0.570758923430409 12 P48735 1 |
| Abnormal form of the vertebral bodies 0.2913984795625912 1.2189131722472444 0.2228771496069246 1.0 0.570758923430409 88 P26373,Q15427,Q12768,P48735,P32322,O96028,Q6NUK1,Q96HY6,Q7Z5J4,Q14807,O60216,Q9UIG0,Q96AY3,O95831,Q04721,P18583,Q32P28,Q9UBM7,O60568,Q14739,Q15643,P46100,Q02809,P40818,Q5JRA6,Q9NUQ7,Q5H8A4,Q9Y4P3 28 |
| Attention deficit hyperactivity disorder 0.2827605186713474 1.2186428242583718 0.2229797876568691 1.0 0.570758923430409 99 Q15058,Q9BYW2,Q8WWQ0,Q96F07,Q14669,Q7Z5J4,O14974,O60216,O00567,Q9UIG0,Q96ST3,P55011,Q9H2P0,Q9UQE7,P55795,Q9BXW9,Q9UBM7,P11274,P00367,P19022,Q9BVA1,O60934,P11166,Q14683,Q06787,Q6KC79,Q9UGU0,P51608,Q6ZRS2,Q96T58,O60281,Q9Y4P3,Q68CP9 33 |
| Dyspnea 0.279188152948404 1.2180616245659497 0.2232005555705329 1.0 0.5710069706882115 109 P11310,P53597,P02545,Q96RR1,P23786,P49748,P35658,P09651,O43819,P24468,Q92804,O95831,Q9H2P0,Q02487,P00846,Q15643,P46100,P16219,Q14980,P53007,Q969Y2,P54098,P43243,Q8TCJ2 24 |
| Progressive spastic paraplegia 0.368110936581863 1.2172096648701136 0.2235244538779928 1.0 0.5715184317124498 29 P00846,Q12768,O95299,O43678,Q5T440,Q9ULH0,Q96KR1,Q8IY17 8 |
| Abnormal femoral neck head morphology 0.3392545505678583 1.2143294243206852 0.2246219538435636 1.0 0.5739422770749726 47 P26373,Q14807,O60568,Q14839,Q9ULC3,Q14739,P11274,Q15643,P46100,Q6ZRS2,Q96AY3,Q9NUQ7,O95831,P02545,P55011,Q96A33,O75718,Q96HY6 18 |
| Abnormal dentin morphology 0.6045865035453242 1.2137428570003883 0.2248459332749242 1.0 0.5739422770749726 6 Q5JRA6,Q15643,Q96AY3 3 |
| Low anterior hairline 0.3347802856418473 1.211351536636255 0.2257607048168464 1.0 0.5756398502243705 55 P62913,Q9NP72,P61313,Q6NUK1,O60885,O60216,P61353,P51532,P62847,O14497,O95831,Q04721,Q9UQE7,Q9H9Y6,Q96N67,Q13428,Q8TAQ2,O60934,Q14683,Q6KC79,Q96GM5,Q96T58,Q07020,P46777,Q68CP9 25 |
| Low set posteriorly rotated ears 0.2950200254019827 1.208500586414873 0.2268547703636447 1.0 0.5768032617376406 78 P37268,Q15022,Q15427,Q9UBM7,Q9UIG0,Q96T58,Q9UHB7,Q96J42,Q9H2P0,O96028,Q5H8A4,Q8IY17,Q14683,Q6KC79 14 |
| Fasting hyperinsulinemia 0.6698565772802229 1.207881557813065 0.2270928243066849 1.0 0.5768032617376406 4 Q16836,P02545 2 |
| Lens subluxation 0.6693428486470462 1.2057112809815542 0.22792883378315 1.0 0.5776449056413978 4 P29992,Q92560,Q9Y467 3 |
| Ocular pain 0.6693428486470409 1.2057112809815314 0.2279288337831588 1.0 0.5776449056413978 4 P29992,Q92560,Q15043 3 |
| Abnormality of the achilles tendon 0.4577763121329053 1.204934644967059 0.2282285328099278 1.0 0.5777778892112945 14 Q8N2K0,P02545 2 |
| Aplasia hypoplasia involving the femoral head and neck 0.5474140535042537 1.2039416940459555 0.2286121151297244 1.0 0.5781921786494323 8 O95831,Q96HY6 2 |
| Bradycardia 0.4905447048507166 1.2038617336459996 0.2286430242251442 1.0 0.5781921786494323 11 Q9H0U9,O43772,P02545 3 |
| Non motor seizure 0.3376178586864943 1.202641486837867 0.2291150860091699 1.0 0.5785390622673928 49 P42356,Q96N67,Q8NB90,O43292,P00374,Q9BYW2,P61978,P51649,Q9NVI7,P51608,Q96JM3,P11166,P18583 13 |
| Abnormal renal tubule morphology 0.3921174805302849 1.2025340366591712 0.2291566871367156 1.0 0.5785390622673928 24 P00846,Q9NQH7,P23786 3 |
| Aplasia hypoplasia of the gallbladder 0.6795562163543983 1.1978308615325135 0.2309828700289939 1.0 0.5821930184984484 3 Q69YQ0 1 |
| Abnormality of the humeroradial joint 0.5236119926728235 1.196032707763134 0.2316837955193815 1.0 0.5827883692265344 9 Q14807,Q6ZRS2,Q6KC79 3 |
| Paraplegia 0.3312192448667971 1.1924346884280246 0.2330908455329914 1.0 0.5840053741115387 57 P00846,P51608,Q5T440,P46100,Q8WWQ0,O95831,Q96KR1,P11166 8 |
| Infantile spasms 0.3534430466433242 1.1921340611436015 0.2332086833059958 1.0 0.5840053741115387 33 P00846,Q9UBX3,P42356,Q96N67,Q8NB90,P51608,Q13813,P08559,Q13618,Q8N442,P09471,Q8IY37,P19022,Q9H936,Q14683,O60508,O14936 17 |
| Abnormality of the upper respiratory tract 0.2791228768786468 1.1920998323071494 0.2332221027634149 1.0 0.5840053741115387 101 Q15427,Q9H0U9,P02545,Q96HY6,Q14807,P09651,P51532,Q92804,Q9UHB7,Q9H2P0,Q9UBM7,Q69YQ0,Q14739,P46100,Q13428,Q06787,Q96GM5,P43243,O60832 19 |
| Blepharophimosis 0.3369703077311555 1.1902438869588274 0.2339505483823476 1.0 0.5855114158754737 47 Q13724,Q14669,Q9BXW9,Q03164,Q9UGU0,P51608,Q9UIG0,P32322,P38159,P02545,P55011,P55201,Q9Y4P3 13 |
| Hyperostosis 0.4408797181629673 1.188914838430972 0.2344731804539115 1.0 0.586501010250967 16 P22626,Q9Y2U8,P09651,Q01831 4 |
| Aplasia hypoplasia of the thyroid gland 0.6302769367299175 1.1869719170677924 0.2352386978610186 1.0 0.5877779930294286 5 O14654,Q13428 2 |
| Conical incisor 0.6765755053507636 1.1854345185330033 0.235845690494084 1.0 0.5883256040097488 3 Q96PY6,Q12959 2 |
| Tube feeding 0.2987564993503798 1.184463131973034 0.2362297821833023 1.0 0.5883256040097488 75 P37268,Q99720,Q96N66,Q8NB90,O15121,Q6PJT7,Q9UHB7,Q9NUQ7,Q96JM3,Q96F86,Q14683,Q9H2P0,Q8TD30,P18583,Q9H490,Q15233 16 |
| High hypermetropia 0.4744260168368008 1.1836142920241155 0.2365657802731708 1.0 0.5883256040097488 12 Q9Y4P3,Q9UIG0,Q96T58 3 |
| Absent fingernail 0.4743131465854424 1.1829286113820665 0.2368374412754759 1.0 0.5883256040097488 12 P14923,P11274,P09471,O14497,Q96T60,Q9H936,O14936 7 |
| Abnormal nasal base 0.4869113350181705 1.1825455719791704 0.2369892942833196 1.0 0.5883256040097488 11 Q96GM5,P51532,Q96ST3,Q8TAQ2,O14497,Q68CP9 6 |
| Branchial fistula 0.5977483179728471 1.181738409674936 0.2373095127859326 1.0 0.5884867423040071 6 Q9H9Y6,Q13428 2 |
| Abnormality of the choanae 0.3464999470532229 1.1812937568909947 0.2374860465648247 1.0 0.5886078896042162 36 P62913,O60216,Q9BXW9,P42356,Q9UBM7,Q13428,O95602,Q14683,P02545,P55011,Q9UQE7,O60934,Q9H9Y6,Q6KC79 14 |
| Abnormality of circulating adrenocorticotropin level 0.4865620490711136 1.180496387554629 0.2378028463721324 1.0 0.5890763684984044 11 P40818,Q9UER7,P46100,P35240 4 |
| Hyperactive deep tendon reflexes 0.4982950317765943 1.1789753996019114 0.2384079717467995 1.0 0.590122728280179 10 P51608,P11166,O75787 3 |
| Generalized muscle weakness 0.3496920592201399 1.17798467955694 0.2388027140118245 1.0 0.5902844566190408 34 P31040,Q9Y6X9,P09651,Q13148,P43243,Q92804,P50995,O95831,P53007,P54098,Q5JTZ9 11 |
| Aplasia hypoplasia of the 4th metacarpal 0.6743302059413749 1.1760998860864054 0.2395549634478606 1.0 0.5912920594094092 3 Q14739 1 |
| Abnormality of the 4th metacarpal 0.6743302059413749 1.1760998860864054 0.2395549634478606 1.0 0.5912920594094092 3 Q14739 1 |
| Prominent nasal bridge 0.3350099330191328 1.1747878945256451 0.2400795844190617 1.0 0.5921706175344433 49 Q15427,P20700,O14936,P63000,Q9Y4A5,O95602,Q96ST3,O15078,Q9UQE7,Q69YQ0,Q96N67,P11274,O60934,Q14683,Q15233,Q9Y2U8,P51608,Q96T58,Q8WVM7 19 |
| Fatigable weakness of swallowing muscles 0.4530123041278588 1.1742260168443333 0.2403045077370476 1.0 0.5924084388597805 14 P43243,P09651 2 |
| Germinoma 0.597325408618129 1.1723475008608546 0.2410575679337436 1.0 0.5933130743056905 2 P35222 1 |
| Pilomatrixoma 0.597325408618129 1.1723475008608546 0.2410575679337436 1.0 0.5933130743056905 2 P35222 1 |
| Abnormal female reproductive system physiology 0.3148648047926977 1.1676825784396605 0.2429348266621671 1.0 0.5963416139044678 67 Q15031,Q9BYW2,Q8WWQ0,Q9Y6N7,P02545,Q96RR1,Q5JTZ9,O60216,P49257,O15078,Q16740,Q9UQE7,Q86W42,O75616,O60318,Q14980,O60934,Q14683,P54098,Q6KC79,Q9UJA3,P35240,P40818,Q06787,Q9H7N4,Q8N5K1,Q6UN15,Q92560 28 |
| Abnormal scalp morphology 0.2757243152976145 1.165250305391194 0.2439176882124858 1.0 0.5979942574973013 119 Q9NPE3,P14923,P62913,Q12768,Q9BYW2,Q92643,P29372,P61313,P02545,O96028,Q6NUK1,O60216,P78536,P51532,P62304,Q96ST3,O14497,O95831,Q04721,Q9H2P0,Q9UQE7,Q02487,P36551,Q86W42,Q6P1M0,Q69YQ0,Q96N67,O60341,Q13428,Q8TAQ2,P19022,O60934,Q14683,Q6KC79,Q96GM5,Q6ZRS2,Q96T58,O60832,Q5H8A4,Q68CP9 40 |
| Epiretinal membrane 0.6712247324613482 1.1631942715711954 0.2447506901909855 1.0 0.5979942574973013 3 P35240,P04439 2 |
| Short lingual frenulum 0.6592402600778384 1.1630557771893817 0.244806872869435 1.0 0.5979942574973013 4 P02545 1 |
| Nephronophthisis 0.5936457738920988 1.1625453752383477 0.2450140045265376 1.0 0.5979942574973013 6 Q9NQH7 1 |
| Abnormality of lower limb metaphyses 0.5173152830964213 1.1619504702225318 0.245255584432303 1.0 0.5979942574973013 9 Q9NUQ7,O95831 2 |
| Abnormality of the musculature of the thigh 0.5172222965140941 1.1614472182068338 0.2454600761794854 1.0 0.5979942574973013 9 O14979,P50402,P02545,Q8WXH0,Q9BTV4 5 |
| Abnormality of fibula morphology 0.4706054410155873 1.1604057666603385 0.2458836400164914 1.0 0.5980114480927413 12 Q9UHB7,Q15427 2 |
| Tracheoesophageal fistula 0.403896413246419 1.160242606308381 0.2459500445951925 1.0 0.5980114480927413 20 Q9BXW9,Q69YQ0,Q9UIG0,Q13428,P55011,O60832,Q9Y4P3 7 |
| Cystinuria 0.5943536404160489 1.1583846254635024 0.2467071104746157 1.0 0.598298970162529 2 Q4J6C6 1 |
| Convex nasal ridge 0.4034479487145608 1.1568658995861985 0.2473271526989768 1.0 0.598298970162529 20 Q12797,P51530,P02545,Q8NC56,O96028,O60934 6 |
| Inability to walk 0.2882890661530424 1.1563858086377583 0.247523383697521 1.0 0.598298970162529 86 O15269,Q96RR1,Q99720,O43292,P82930,P00846,Q9Y6X9,Q96N67,Q8NB90,O75787,P11166,Q14683,Q15043,Q96JX3,Q96N66,Q9NVI7,P51608,Q8N201,Q7L2E3 19 |
| Abnormality of the dentition 0.2567524915182972 1.1555521990853268 0.247864369764903 1.0 0.598298970162529 223 Q9NPE3,P14923,Q03164,P20700,Q9ULC3,Q9BYW2,Q92643,Q8WWQ0,Q01831,Q96F07,Q12797,P02545,Q8NC56,Q8ND04,O96028,Q92925,Q6NUK1,P23229,Q14669,Q7Z5J4,O60216,P24928,Q9NW13,Q15067,Q9UIG0,P51532,Q96AY3,Q96ST3,O14497,Q04721,P55011,Q9H2P0,Q9UQE7,Q9NX14,P08754,Q9H9Y6,P18583,P62266,Q9UBM7,Q86W42,Q69YQ0,Q96N67,Q14739,O60341,Q15643,P17252,P46100,Q13428,Q12959,Q02809,Q8TAQ2,Q9ULH0,Q96A33,Q14683,Q6KC79,Q15233,Q5JRA6,Q9Y2U8,Q9UGU0,P61978,P51608,Q96GM5,P50454,Q6ZRS2,Q96T58,Q5H8A4,O60832,Q9Y4P3,Q68CP9,Q8WVM7 70 |
| Metamorphopsia 0.6691438763376883 1.1545503584055916 0.2482746051889119 1.0 0.598298970162529 3 P29992,Q92560 2 |
| Photopsia 0.6691438763376883 1.1545503584055916 0.2482746051889119 1.0 0.598298970162529 3 P29992,Q92560 2 |
| Inferior lens subluxation 0.6691438763376883 1.1545503584055916 0.2482746051889119 1.0 0.598298970162529 3 P29992,Q92560 2 |
| Uveal melanoma 0.6691438763376883 1.1545503584055916 0.2482746051889119 1.0 0.598298970162529 3 P29992,Q92560 2 |
| Choroidal melanoma 0.6691438763376883 1.1545503584055916 0.2482746051889119 1.0 0.598298970162529 3 P29992,Q92560 2 |
| Mydriasis 0.6691438763376883 1.1545503584055916 0.2482746051889119 1.0 0.598298970162529 3 P29992,Q92560 2 |
| Abnormal granulocytopoietic cell morphology 0.6691438763376838 1.154550358405574 0.2482746051889193 1.0 0.598298970162529 3 Q14980,Q07020 2 |
| Pancreatic fibrosis 0.6569303846289912 1.1533106445074364 0.2487829026208454 1.0 0.5990987367431352 4 O15078,Q96J42 2 |
| Abnormal cardiac ventricle morphology 0.2541154075671377 1.152790581100548 0.2489963513231772 1.0 0.5990987367431352 200 P62913,Q15427,Q12768,Q9ULC3,Q9BYW2,P61313,P02545,Q8NC56,P63000,Q8ND04,O96028,Q96RR1,P23786,P49748,Q7Z5J4,O43772,P78536,P24468,O00459,Q9UIG0,P51532,Q9UHB7,O14497,O15078,Q04721,P55011,Q9UQE7,Q9NX14,P18583,Q8N1G0,Q99959,Q13724,Q9UBM7,Q69YQ0,Q14739,O43678,O75787,P46100,Q8TAQ2,Q969Y2,Q14683,P54098,Q6KC79,Q15233,O95299,Q14839,P61978,Q96GM5,Q96T58,Q9Y4P3,Q68CP9 51 |
| Elevated urinary monocarboxylic acid level 0.6683592642368976 1.1512918758910813 0.2496121782755134 1.0 0.6002671579812816 3 P11310 1 |
| Ulnar bowing 0.5925705794948009 1.1500112596760856 0.2501392337529653 1.0 0.6006088091086236 2 P21333 1 |
| Long palm 0.5925705794948009 1.1500112596760856 0.2501392337529653 1.0 0.6006088091086236 2 Q9BZI7 1 |
| Muscle abnormality related to mitochondrial dysfunction 0.3391217785598829 1.1480817848457028 0.2509348029886329 1.0 0.6018779613827252 39 P00846,Q9UBX3,P53597,Q9NX14,Q96RR1,Q9NPL8,P54098 7 |
| Oral leukoplakia 0.621353042029301 1.1472948920207464 0.2512597644035133 1.0 0.6023440009881416 5 Q9NPE3,O60832,P06748 3 |
| Abnormal lip morphology 0.253669471566339 1.1450085396664105 0.2522056199007421 1.0 0.6036697340303329 296 Q03164,P20700,P29372,P32322,Q8NC56,Q14669,Q9Y4W2,P78536,Q9UHB7,Q04721,P55011,Q9UQE7,Q02487,P62266,P55795,Q9UBM7,O60341,Q13428,Q8TAQ2,P11166,Q6KC79,Q9UGU0,P61978,P51608,Q96T58,O60281,Q9Y4P3,Q9P273,Q15427,Q8WWQ0,Q8ND04,Q7Z5J4,Q9Y4A5,P51532,O15446,O00571,O14497,Q9H2P0,P55201,Q86W42,Q15643,P46100,Q9ULH0,Q96JM3,Q15046,P19022,O60934,O75718,Q06787,Q9Y2U8,Q4J6C6,Q8N201,O14936,P14923,Q15058,Q92643,Q96F07,P38159,P02545,O96028,Q6NUK1,Q96HY6,O14974,O60216,Q9UIG0,Q96ST3,Q8WVX9,P10586,Q9H9Y6,Q9H490,Q15022,Q69YQ0,O60568,P11274,Q14739,P17252,Q00839,Q14683,Q96GM5,P11233,Q5H8A4,Q68CP9,Q9Y3B2,Q7Z3K3,P18583,Q96N67,Q15233,Q6ZRS2,Q7L2E3 89 |
| Abnormality of the musculature of the lower limbs 0.3748257591730724 1.139195690764633 0.2546215425181561 1.0 0.6083555402983756 26 P00846,P43243,O14979,P50402,P02545 5 |
| Abnormal nasal bridge morphology 0.2550322558742359 1.1378898621839928 0.2551664749929052 1.0 0.608544981747177 283 Q03164,P20700,P29372,Q14669,O60783,O00459,O95831,Q04721,P55011,Q9UQE7,Q9NX14,P62266,Q9UBM7,Q8NB90,O60341,Q13428,Q9BRT2,Q8TAQ2,P11166,Q6KC79,Q9UGU0,P61978,P98175,P51608,Q96T58,Q99567,O60281,Q9Y4P3,Q15427,Q12768,Q8WWQ0,P61313,P63000,Q8WWY3,Q7Z5J4,Q9Y4A5,Q15067,P51532,O95602,O00571,O14497,O15078,Q9H2P0,O94906,P55201,Q15643,P46100,P19022,O60934,Q9Y2U8,Q4J6C6,Q8N201,O14936,P37268,P62913,Q15058,Q9ULC3,P02545,O96028,Q9H936,Q6NUK1,O60216,Q9UIG0,Q96ST3,Q8WVX9,Q9H9Y6,Q9NRZ9,Q9H490,Q16134,Q69YQ0,P11274,Q14739,Q02809,Q14683,Q5JRA6,O43172,O43837,Q96GM5,O75695,O75530,P11233,Q07020,Q5H8A4,Q68CP9,Q8WVM7,O43395,Q9Y3B2,Q7Z3K3,P18583,Q96N67,Q15233,Q9NVI7,Q6ZRS2 93 |
| Macular thickening 0.5559929342658242 1.1360587058473852 0.2559319957658785 1.0 0.6094516243140211 7 P04439,Q6P2Q9,P50213,Q8WWY3,P35240 5 |
| Mastoiditis 0.6643438807670441 1.1346235272402367 0.2565330910905503 1.0 0.6095966752203283 3 Q15043 1 |
| Abnormality of the mastoid 0.6643438807670441 1.1346235272402367 0.2565330910905503 1.0 0.6095966752203283 3 Q15043 1 |
| Abnormal cry 0.4531946244520195 1.1337302496764732 0.2569077167942271 1.0 0.6101723721903075 13 Q9H0U9,Q69YQ0,P51608,Q6KC79 4 |
| Decreased circulating androgen concentration 0.4779650648141371 1.1300682558138335 0.2584474645615917 1.0 0.6130766775031389 11 Q9NW13,Q8WWQ0 2 |
| Tricuspid valve prolapse 0.6631985731272226 1.129871653111387 0.2585303100719447 1.0 0.6130766775031389 3 P21333,Q9NX14 2 |
| Chronic leukemia 0.6510497606944345 1.1285173672671167 0.2591014864696515 1.0 0.6132386926907255 4 P11274,P55265 2 |
| Abnormal lower limb bone morphology 0.2479520311302585 1.127730383714266 0.259433801785534 1.0 0.6132386926907255 173 P26373,Q15427,Q03252,Q03164,Q15058,Q9ULC3,P53597,Q96J42,Q8NC56,P02545,O96028,Q9H936,Q96HY6,Q14669,Q9Y4W2,Q14807,O60216,Q9Y4A5,Q96AY3,Q9UHB7,O95602,O95831,Q04721,O15078,P55011,Q9UQE7,P18583,Q32P28,Q9BXW9,Q9UBM7,Q69YQ0,O60568,P11274,Q14739,Q15643,O75787,P46100,Q9NZJ7,Q96A33,O75718,Q14683,Q6KC79,Q06787,Q5JRA6,O00116,Q14839,Q9UGU0,P98175,P51608,Q6ZRS2,Q96T58,Q9NUQ7,Q99567,Q5H8A4,O14936 55 |
| Limb pain 0.4892612750660147 1.1277054590217093 0.259444331421699 1.0 0.6132386926907255 10 P00846,O75477,O15269,Q8WVX9,P36551 5 |
| Back pain 0.3828101659246031 1.1275050658516963 0.2595289998784393 1.0 0.6132386926907255 24 P50336,P54886,P50402,Q8WVX9,P02545,Q8WXH0,Q92560,P36551,P35240 9 |
| Hyperactivity 0.2571963277813758 1.127075613176158 0.2597105130905401 1.0 0.6133532097066549 157 Q03164,Q15058,Q9BYW2,Q8WWQ0,Q96F07,Q9H936,Q14669,Q7Z5J4,O14974,O60216,O00567,Q9UIG0,P51649,P51532,Q96TA2,Q96ST3,O00571,O14497,Q96F86,Q7Z3K3,P55011,Q9H2P0,Q9UQE7,P55795,Q9BXW9,Q9UBM7,P11274,P00367,P46100,P51572,Q9BRT2,Q8TAQ2,P19022,Q9BVA1,O60934,P11166,Q14683,Q6KC79,Q06787,Q96N66,Q9UGU0,Q96GM5,P51608,Q6PJT7,Q6ZRS2,Q96T58,Q9NUQ7,O60281,Q9Y4P3,Q68CP9,O14936 51 |
| Median cleft lip 0.6614149821640825 1.1224738519976978 0.2616610191895399 1.0 0.6170114058638255 3 Q14683,Q96PY6 2 |
| Abnormality of mouth size 0.2727297814908039 1.1206048035849232 0.2624561194044112 1.0 0.6185698928703149 122 Q15427,P02545,Q8NC56,Q14669,Q7Z5J4,O00459,Q9Y4A5,Q9UIG0,P51532,O14497,Q04721,Q7Z3K3,P55011,Q9H2P0,P55201,P18583,Q9H490,P55795,Q9UBM7,P46100,Q13428,Q8TAQ2,P11166,Q15233,Q9UGU0,Q96GM5,P51608,Q9NVI7,Q6ZRS2,Q96T58,Q9Y4P3,Q68CP9,Q8WVM7 33 |
| Natal tooth 0.5310797779012382 1.119501666788504 0.2629261802143281 1.0 0.6188081554130902 8 P14923,Q69YQ0,Q96PY6,P02545 4 |
| Wide cranial sutures 0.5520454375760192 1.1165475407595962 0.2641878323463285 1.0 0.6204309256834306 7 P98175,O75718,P02545 3 |
| Thin nail 0.6594431832236649 1.1142988444334958 0.2651510025758248 1.0 0.62174268660964 3 Q15022 1 |
| Expressive language delay 0.508393228666356 1.1136799896830434 0.2654164967861492 1.0 0.621848317930308 9 Q7Z5J4,P31040,Q8NB90,Q6ZRS2,Q7Z3K3 5 |
| Abnormality of the metaphysis 0.3279840227685884 1.113221539804456 0.265613293899458 1.0 0.621848317930308 52 Q9Y2U8,Q15022,Q14807,Q15643,P48735,Q9NUQ7,O95831,O60832,Q96HY6 9 |
| Stridor 0.5827198020233705 1.1114775232467755 0.2663628596471723 1.0 0.6226839670250833 6 Q9H0U9,Q14807,Q969Y2 3 |
| Webbed neck 0.3425009365680708 1.109926066180143 0.2670308870826301 1.0 0.6230012998623624 34 P62913,Q03164,P02545 3 |
| Loss of subcutaneous adipose tissue in limbs 0.6466212854631802 1.1098645489156516 0.267057398956664 1.0 0.6230012998623624 4 P02545 1 |
| Emg axonal abnormality 0.583952451708768 1.1095933221648329 0.2671743101578938 1.0 0.6230012998623624 2 Q15120 1 |
| Pustule 0.6464312070003357 1.109064322308379 0.2674024346715979 1.0 0.6232180100283451 4 P78536 1 |
| Abnormality of the antitragus 0.6577511721147232 1.1072868393376594 0.2681699325380382 1.0 0.6235491809707212 3 Q8IY17 1 |
| Tongue thrusting 0.6577376632939465 1.1072308678657072 0.2681941249661062 1.0 0.6235491809707212 3 P51608 1 |
| Increased csf lactate 0.3268007714270884 1.1066630954688648 0.2684396167473131 1.0 0.6235491809707212 53 P00846,O95299,O43819,P51608,O43678,P53597,O95831,P82930,Q9NX14,Q9NPL8 10 |
| Abnormal brainstem mri signal intensity 0.3887386386339194 1.106232417048202 0.2686259351436098 1.0 0.6235491809707212 22 P49792,O75251,Q969Y2,O95831,Q9NX14,Q9NPL8,Q9BU61 7 |
| Ptosis 0.2549403735093838 1.1061615077344698 0.2686566201632794 1.0 0.6235491809707212 228 Q03164,P53597,Q14669,O43819,O00459,Q9UHB7,P82930,P55011,Q9UQE7,Q9NX14,Q9NPL8,Q9UBM7,O60341,O43678,Q13428,Q8TAQ2,Q6KC79,O95299,Q9UGU0,P61978,P51608,Q9P273,Q15427,Q8WWQ0,P61313,P51530,P55265,P51532,O14497,O15078,Q9H2P0,P55201,P08754,P09543,P46100,Q9NZJ7,Q13148,Q4J6C6,P31040,P62913,Q96F07,P02545,O96028,Q9Y4W6,O14974,O60216,O00567,Q8WVX9,Q5T8D3,Q69YQ0,Q02809,Q96A33,Q14683,P54098,Q96GM5,O75530,P11233,Q07020,Q8WXH0,Q5H8A4,Q68CP9,Q9BTV4,Q9BU61,O75251,O76024,P50402,Q96RR1,Q86U42,Q8IY37,O75648,O75845,O96011,Q9BXW9,P53007,Q9Y3Z3,Q14839,P08559,P10515,O95470,P21333,Q5JPH6 81 |
| Abnormality of earlobe 0.3755754995308145 1.105918329580898 0.268761870409723 1.0 0.6235491809707212 25 Q96N67,Q96GM5,P98175,Q96T58,Q04721,P10586,Q9NX14 7 |
| Abnormal cardiac test 0.4050428353386825 1.1048150435534927 0.2692397406376985 1.0 0.6240297658822473 19 P49748,P51608,Q969Y2,Q96RR1,Q99959,P54098 6 |
| Pituitary hypothyroidism 0.5487855095649278 1.1004439832095212 0.2711387237114937 1.0 0.6274846969427641 7 Q9NW13 1 |
| Abnormal atrioventricular conduction 0.441391002177888 1.099361049306941 0.2716106133296168 1.0 0.6276054963409924 14 P49748,O43772,Q99959,P02545 4 |
| Ethylmalonic aciduria 0.5797437540241203 1.0975835258119784 0.272386389757957 1.0 0.6285464484208508 6 P53597,P54098,P16219 3 |
| Periauricular skin pits 0.4474000615432609 1.097241512213912 0.2725358308118306 1.0 0.6285464484208508 13 Q9ULC3,O96028,Q69YQ0,P61978 4 |
| Skin dimple 0.3648813599613878 1.0970070292106526 0.2726383193448787 1.0 0.6285464484208508 27 Q03164,Q9ULC3,P61978,Q9UIG0,O96028,Q9NX14,Q5H8A4 7 |
| Increased proteinogenic amino acid level in urine 0.4723058897867318 1.096892783037441 0.2726882639569852 1.0 0.6285464484208508 11 P11310,P30038,P26440,Q4J6C6 4 |
| Mitral stenosis 0.6092413659203538 1.0935319972826356 0.2741602881471259 1.0 0.6309929747170496 5 P02545 1 |
| Abnormality of the thyroid gland 0.2711145692211523 1.0928968832882522 0.2744390768746387 1.0 0.6313194333293836 104 O14654,Q9BYW2,P48735,Q8WWQ0,P02545,Q9Y6N7,P55265,Q96RR1,Q7Z5J4,Q9NW13,Q9UIG0,P51532,Q9UHB7,O14497,Q13724,Q13428,Q8TAQ2,Q14683,P54098,Q06787,P35240,P61978,Q96GM5,Q96T58,Q9Y4P3,Q68CP9 26 |
| Neonatal hyperbilirubinemia 0.6420038152978915 1.0904349401453943 0.2755215976773411 1.0 0.6321545131993248 4 P11171 1 |
| Nonprogressive encephalopathy 0.5797919762258558 1.0901177190834728 0.2756612919541563 1.0 0.6321545131993248 2 Q8TCS8 1 |
| Fatigable weakness of bulbar muscles 0.4262222415725863 1.089889143167622 0.2757619796190547 1.0 0.6321545131993248 16 P43243,P09651 2 |
| Stomatocytosis 0.6529666524039064 1.087475121383802 0.2768268876572806 1.0 0.6323944262141048 3 P11166 1 |
| Abnormality of the pulmonary veins 0.5449209484261492 1.0813664341259408 0.2795341464518004 1.0 0.6373157344919881 7 P24468,Q14683 2 |
| Hypoplasia of the uterus 0.4807485715845842 1.0794288777511694 0.2803965833489465 1.0 0.6383349378956265 10 Q16740,Q9NX14,Q8WWQ0 3 |
| Hoarse voice 0.3627464137998092 1.078851773235128 0.2806538106453113 1.0 0.6386051663745732 27 Q7Z5J4,Q9Y2U8,Q15022,Q69YQ0,Q7Z406,Q9UIG0,O75530,P43243,P55265,Q9Y3Z3,Q9Y4P3,Q96HY6 12 |
| Speech articulation difficulties 0.6046848590538223 1.0733416913026246 0.283117835792473 1.0 0.6426111017160593 5 P30038,Q12959 2 |
| Furrowed tongue 0.5220469859845973 1.0728770346066805 0.2833262913032526 1.0 0.6426111017160593 8 P61978,Q96J42 2 |
| Hyperchloremic acidosis 0.5759286775631514 1.0720579068986569 0.2836940236728249 1.0 0.6426111017160593 2 Q13618 1 |
| Pseudohypoaldosteronism 0.5759286775631514 1.0720579068986569 0.2836940236728249 1.0 0.6426111017160593 2 Q13618 1 |
| Dysplastic corpus callosum 0.4560365452093381 1.0719805642852325 0.2837287619130388 1.0 0.6426111017160593 12 O14974,Q86W42,P20700,Q9NVI7,P18583,Q5JPH6,Q15233 7 |
| Female hypogonadism 0.6040347709469625 1.0704629904752565 0.2844109591189605 1.0 0.6426111017160593 5 Q8WWQ0 1 |
| Avascular necrosis of the capital femoral epiphysis 0.6371183783842693 1.0699021380301084 0.2846633606353785 1.0 0.6426111017160593 4 Q9NUQ7 1 |
| Episodic vomiting 0.4362647336871665 1.0663816629057845 0.2862511474710731 1.0 0.6426111017160593 14 P00846,P49748,P61978,P36551 4 |
| Shuffling gait 0.4550925722337218 1.06625843866158 0.2863068316040844 1.0 0.6426111017160593 12 P51608,P02545 2 |
| Mitochondrial respiratory chain defects 0.5726625853848397 1.0645605871762598 0.2870748232436018 1.0 0.6426111017160593 6 P00846,Q4J6C6 2 |
| Cranial hyperostosis 0.4359592594983138 1.0644176698499777 0.2871395326399395 1.0 0.6426111017160593 14 P22626,P09651,Q01831 3 |
| Polyneuropathy 0.3910812156529119 1.0638604832740428 0.2873919068159143 1.0 0.6426111017160593 20 P00846,Q8N2K0,O95831 3 |
| Abnormal peripheral action potential amplitude 0.5199564189893195 1.062097981716495 0.2881912062672613 1.0 0.6430104707561519 8 Q9Y6X9,P31930,Q00796,O15269,O15270 5 |
| Aortic arch aneurysm 0.5198466704559657 1.0615322580901785 0.2884480810246685 1.0 0.6430104707561519 8 Q9UIG0,Q96T58 2 |
| Abnormality of skull ossification 0.4349337416555239 1.0578254376823744 0.2901350333845558 1.0 0.6459247418162346 14 Q14739,Q15643,Q04721,P02545,O75718,Q32P28 6 |
| Disproportionate short stature 0.3650132517950744 1.057303430156567 0.290373128297436 1.0 0.6459247418162346 26 Q14807,Q9UBM7,Q03164,Q15643,Q96HY6 5 |
| Chromosomal breakage induced by ionizing radiation 0.6007934144170757 1.056117380215931 0.2909145908457047 1.0 0.6459247418162346 5 Q92560,P35240 2 |
| Thin ribs 0.4403852914966723 1.0531222581325306 0.2922849627979018 1.0 0.6468716651456204 13 Q02809,O95831,P02545,Q32P28 4 |
| Aplasia hypoplasia affecting the fundus 0.3643777301344339 1.0520091519082817 0.2927953507656191 1.0 0.6473796484553976 26 P37268,Q15058,Q9NVI7,Q9Y4I1,Q8WWQ0,Q00839,Q9Y6N7,P18583 8 |
| Hemifacial spasm 0.5996884764884718 1.0512301957683587 0.2931528779580785 1.0 0.6474739870891694 5 P35240 1 |
| Cardiorespiratory arrest 0.6326351446171234 1.0510845864129208 0.293219742586563 1.0 0.6474739870891694 4 O43772 1 |
| Cellular immunodeficiency 0.4752430167404688 1.0482415232338491 0.2945273439942459 1.0 0.6496512228772602 10 Q9NPE3,O60832,P06748,Q9NRZ9 4 |
| Adrenal hypoplasia 0.474942442047489 1.046539905024713 0.2953118309699907 1.0 0.6508631490088633 10 Q9Y6N7,Q8WWQ0,P02545 3 |
| Hypogonadotropic hypogonadism 0.343371986561377 1.0450178896225817 0.2960147013990513 1.0 0.6516847055633364 30 Q9Y4W2,Q9NW13,Q9UIG0,Q8WWQ0,Q8IY17,P54098,P35240 7 |
| Abnormality of the ribs 0.3065368606533316 1.0432690990514586 0.2968236784635736 1.0 0.6525763174232091 66 Q15427,Q9UBM7,Q03164,Q14739,Q15643,Q96T58,O95831,P02545,O96028,Q5H8A4,P18583,Q6KC79,Q96HY6 13 |
| Aplasia hypoplasia of the fibula 0.516088763945325 1.042170692802328 0.2973325480684987 1.0 0.6529891116746824 8 Q9UHB7 1 |
| Osteoarthritis 0.4629135678111101 1.041902081337044 0.2974570790708966 1.0 0.6529891116746824 11 Q9NUQ7,P02545,Q96HY6 3 |
| Intestinal hypoplasia 0.6301286862028695 1.0405755779005326 0.2980725706521356 1.0 0.6540288199459046 4 Q99567,P02545 2 |
| Aganglionic megacolon 0.4115716696503301 1.0396485298324112 0.2985032214403955 1.0 0.6546621554901157 17 Q15427,Q9BYW2,Q9UBM7,P46100 4 |
| Choreoathetosis 0.332726714810258 1.0380992825206188 0.2992238354541654 1.0 0.6553963699503045 35 P00846,P51608,P08559,Q8N442,P53597,P10515,P09471,Q96T60,P82930,Q9H936,P55265,P11166,P54098,Q4G0N4,O14936,P02792 16 |
| Hypoglycemic seizures 0.566901854072136 1.037740411691585 0.2993909254157167 1.0 0.6553963699503045 6 Q16836,P40939,P00367,Q7Z3K3 4 |
| Postaxial hand polydactyly 0.4112904699720069 1.0377065998452657 0.2994066713916141 1.0 0.6553963699503045 17 Q9ULC3,O00459,Q9UBM7,Q96J42 4 |
| Branchial anomaly 0.4941583970151439 1.036797114037422 0.2998304208311622 1.0 0.6560124537407013 9 P61978,Q9H9Y6,Q13428 3 |
| Abnormal internal genitalia 0.2679130125747326 1.035103939923259 0.3006203727878853 1.0 0.6564616842971651 121 Q9NPE3,Q15427,Q03252,Q15058,Q15031,Q9BYW2,P48735,Q8WWQ0,P06748,P02545,O96028,Q96RR1,Q5JTZ9,O14974,Q96GM8,O60216,P24468,Q9UIG0,O15078,Q16740,Q9UQE7,Q9NX14,Q9H9Y6,Q9BXW9,Q9UBM7,Q86W42,O75616,Q69YQ0,O60318,Q13428,O14965,O60934,Q14683,P54098,Q6KC79,Q06787,P40818,Q9UJA3,Q6ZRS2,Q07812,O60832,Q9Y4P3 42 |
| Abnormal size of the palpebral fissures 0.2772679113210879 1.035037948932436 0.3006511890008796 1.0 0.6564616842971651 91 Q9P273,Q03164,P20700,P32322,P38159,P02545,P63000,Q14669,O00459,Q9UIG0,O95602,P55011,P55201,Q9H2P0,Q13724,P55795,Q9BXW9,Q14839,Q9UGU0,P61978,P98175,P51608,Q96T58,Q8N201,Q9Y4P3,Q68CP9 26 |
| Hyperaldosteronism 0.5679049034175347 1.0346356528013054 0.3008390971937298 1.0 0.6564616842971651 2 P04637 1 |
| Myalgia 0.3247851624524951 1.0337585678873975 0.3012490453193859 1.0 0.6567450843764755 41 P49748,Q06787,Q9Y2U8,P20700,P11310,Q14739,P30038,P43243,P02545,Q96RR1,P54098,P23786 12 |
| Distal arthrogryposis 0.5957081744319935 1.033639005560502 0.30130495736578 1.0 0.6567450843764755 5 P11310,P42356 2 |
| Supernumerary bones of the axial skeleton 0.5655195656487135 1.0313118101847014 0.3023946217772959 1.0 0.6584280701235884 6 Q6KC79 1 |
| Short thorax 0.5951276368670887 1.0310751830175022 0.3025055645383427 1.0 0.6584280701235884 5 P11166 1 |
| Absent brainstem auditory responses 0.6391200951248439 1.0302985618948488 0.3028698739542321 1.0 0.6586218511027516 3 Q13724,P07196 2 |
| Mitral valve prolapse 0.378960033288008 1.0302762798584442 0.302880330658966 1.0 0.6586218511027516 22 P55795,Q9UIG0,Q14697,Q02809,P21333,P02545,Q9NX14,Q9Y4P3,P54098,Q06787 10 |
| Abnormal vitreous humor morphology 0.4602703530418681 1.0264483097568 0.3046803165758374 1.0 0.6616139026578659 11 P29992,Q92560,P04439,P53701,P35222,Q9NX14,O75533,P35240 8 |
| Abnormality of the posterior pituitary 0.460266735446552 1.026427167126413 0.3046902779280991 1.0 0.6616139026578659 11 P42356,Q8WWQ0,Q9Y6N7,Q92560,P35240 5 |
| Incomplete penetrance 0.3376381248126341 1.0261299102571373 0.3048303534154679 1.0 0.6616139026578659 32 P00846,O14979,P11166,Q06787 4 |
| Aplasia hypoplasia of the clavicles 0.4359911419786861 1.025526815356749 0.3051146793673509 1.0 0.6616242425465862 13 Q15643,P02545,Q6ZRS2,Q14839 4 |
| Hypochromic microcytic anemia 0.6371458753223014 1.0221688116036365 0.306701009369855 1.0 0.6643699031230295 3 P46100 1 |
| Spastic gait 0.3652404135065328 1.0213679495346415 0.3070801442668487 1.0 0.664619467169095 25 P40818,Q12768,P20700,Q9NVI7,P51608,O75477,O75787,P34897,Q9ULH0,Q96KR1,Q8WVX9,Q15043 12 |
| Periventricular nodular heterotopia 0.6251582504865469 1.0197621116269164 0.3078412963019521 1.0 0.66541305527748 4 O60281 1 |
| Abnormal metabolic brain imaging by mrs 0.4157582566666656 1.019378598288631 0.3080232625453158 1.0 0.66541305527748 16 O43819,Q9NZJ7,P53597,Q15046,P35610,P09543 6 |
| Shock 0.5924772169495143 1.019376669531341 0.3080241778659744 1.0 0.66541305527748 5 Q9UER7,P46100 2 |
| Telangiectasia 0.3273300172041807 1.019006392307072 0.3081999318042958 1.0 0.6654357923218606 38 P00846,Q99828,Q14739,P46100,Q96T58,Q01831,P02545,O60832 8 |
| Heart block 0.3646460444133266 1.0165168780028488 0.309383314367331 1.0 0.6654357923218606 25 P49748,O43772,P02545,Q99959,Q9H490,P23786 6 |
| Abnormality of the plantar skin of foot 0.3229778863225049 1.015629086640033 0.3098060484179261 1.0 0.6654357923218606 41 Q9NPE3,P14923,P42166,Q9Y2U8,P42167,Q14126,P61978,O15446,P02545,O60832,Q02487,Q06136 12 |
| Brachycephaly 0.3025962362146738 1.0154083737837163 0.3099112030618296 1.0 0.6654357923218606 67 Q12768,Q9ULC3,Q6NUK1,Q7Z5J4,O60216,P24928,Q15067,Q96AY3,O00571,Q7Z3K3,Q9H2P0,Q9UQE7,Q8IY17,Q9H9Y6,Q69YQ0,O60341,Q13428,Q9ULH0,Q96A33,Q14683,Q6KC79,Q9UGU0,P51608,Q96T58 24 |
| Depressed nasal bridge 0.2426992702484143 1.0145702859156254 0.3103107095188755 1.0 0.6659834128873446 168 P37268,P62913,Q12768,Q9ULC3,Q8WWQ0,P61313,Q9H936,Q6NUK1,Q14669,Q7Z5J4,O60216,O60783,O00459,Q9Y4A5,Q15067,P51532,Q9Y3B2,Q96ST3,O14497,O95831,Q7Z3K3,Q8WVX9,P55011,Q9H2P0,Q9UQE7,P18583,Q9NRZ9,Q9H490,P62266,Q16134,Q9UBM7,Q69YQ0,Q8NB90,Q14739,Q15643,P46100,Q9BRT2,Q8TAQ2,P19022,O60934,Q14683,Q6KC79,Q9UGU0,Q96GM5,P51608,Q4J6C6,Q96T58,Q99567,O60281,Q5H8A4,Q68CP9,O14936 52 |
| Sparse hair 0.2806278070275954 1.0124576969749204 0.3113192634246888 1.0 0.6678370425257402 80 Q9NPE3,P14923,Q15427,Q9BYW2,Q8WWQ0,P06748,P32322,P02545,Q6NUK1,P51532,P62304,Q9Y487,O14497,Q8IY37,Q9H2P0,Q02487,Q8IY17,P04080,O60341,Q13428,Q8TAQ2,Q06787,Q13868,Q96GM5,P54886,Q9H7N4,O60832,Q68CP9 28 |
| Self mutilation 0.4577236869685925 1.0115703861371863 0.3117435112575961 1.0 0.668058871612656 11 Q9UBM7 1 |
| Aplasia hypoplasia of the uterus 0.4075004772183016 1.0115534116981844 0.3117516309196482 1.0 0.668058871612656 17 Q96GM8,O75616,Q15031,Q8WWQ0,P57740,Q8IY37,Q9NX14,O96028,Q16740 9 |
| Urethral obstruction 0.39203591882672 1.0099523240081938 0.3125181322647989 1.0 0.6681437533427675 19 Q9NPE3,Q9BYW2,Q9UIG0,Q6ZRS2,P06748,P21333,O60832,Q9Y4P3,P23229 9 |
| Abnormal nerve conduction velocity 0.3196078934162679 1.0082548054604246 0.3133321534838276 1.0 0.6687320497965024 45 Q9Y6X9,Q99720,O15121,P43243,Q8N2K0,O95831,P02545,P54098 8 |
| Tracheomalacia 0.4453729862440957 1.0074243275283978 0.3137309054993547 1.0 0.6687826724739782 12 Q9UHB7,Q14807,P63000 3 |
| Spastic paraplegia 0.317518105344852 1.0052558338627486 0.3147736761251116 1.0 0.6698284116179815 53 P00846,P51608,Q5T440,P46100,O95831,Q96KR1,P11166 7 |
| Moyamoya phenomenon 0.6215659975945546 1.004743401929038 0.3150204233474838 1.0 0.6698284116179815 4 P55265 1 |
| Abnormal lacrimal duct morphology 0.5087553153689203 1.0044476305488717 0.3151629015984638 1.0 0.6698284116179815 8 Q9UQE7,Q9NX14,Q13428 3 |
| Excessive daytime somnolence 0.413476034511462 1.0040337863162174 0.3153623286674651 1.0 0.6698284116179815 16 P35610,Q9UBM7,P35240 3 |
| Abnormality of cardiovascular system electrophysiology 0.2661288427284963 1.0026800265553484 0.3160152698911516 1.0 0.6707322256897831 120 Q14126,P11310,Q9H0U9,P50402,P02545,Q8NC56,Q96RR1,P23786,P49748,O43772,O43819,O60783,P24468,Q9UIG0,Q02487,Q99959,Q9H490,P00846,Q69YQ0,P46100,Q969Y2,Q14683,P54098,Q16836,P51608,Q9UER7 26 |
| Arnold chiari malformation 0.375186844613093 1.0010471696344472 0.3168040044090268 1.0 0.6720968524278019 22 Q9Y2U8,Q14839,Q9BYW2,Q9UIG0,Q04721,P18583,Q15043,Q15233 8 |
| Renal duplication 0.4873895641915863 1.000332724545471 0.3171495154517676 1.0 0.6725203616525522 9 Q9Y4P3,Q9BXW9,Q9UIG0 3 |
| Abnormality of the midface 0.2437811170205367 0.9999813015936796 0.3173195568813638 1.0 0.6725715665393505 166 Q15427,Q12768,Q9ULC3,Q9BYW2,P32322,Q96J42,Q8NC56,P02545,O14646,O96028,Q7Z5J4,Q9Y4W2,Q14807,P10412,O60783,Q96TA2,Q9UHB7,O95602,O95831,Q04721,O15078,Q7Z3K3,P08754,Q9NX14,P18583,Q9H490,P55795,Q69YQ0,Q14739,P46100,Q13428,Q00839,Q9ULH0,Q14683,Q15233,Q9UGU0,P61978,P51608,Q96T58,Q8N201 40 |
| Increased susceptibility to fractures 0.3139879569823928 0.9977965665088834 0.3183780154552118 1.0 0.674504894875242 57 Q9NPE3,Q13724,Q9Y2U8,P09651,Q14739,O15269,Q15643,Q13126,Q8WWQ0,P48735,Q96AY3,P22626,P32322,Q04721,O60832,O75718,Q8N1G0,Q32P28 18 |
| Intrauterine growth retardation 0.2464370017551066 0.996078491762316 0.3192120093130244 1.0 0.6759611221557384 196 Q9NPE3,P37268,P62913,Q15427,P49411,Q03164,Q15058,P53597,P32322,P02545,Q8NC56,O96028,P51532,P55201,Q9UQE7,Q9NX14,Q9NPL8,P18583,Q9BXW9,P42356,Q9UBM7,Q5T440,P51572,Q9BRT2,Q8TAQ2,P16219,Q969Y2,Q14683,Q6KC79,Q06787,Q16836,Q9Y2U8,O95299,Q96GM5,P98175,Q8TCJ2,Q99567,O60832,Q5H8A4,Q68CP9,Q8WVM7 41 |
| Abnormality of neuronal migration 0.2476591344752569 0.9950580690994562 0.3197080226137145 1.0 0.6767006355597908 161 P37268,Q15427,P49411,Q15058,Q6ZXV5,O60508,P23786,Q9Y320,O00459,P51532,Q96F86,Q96PU5,Q9UBM7,Q15022,Q5T440,Q96JM3,Q9BVA1,Q06787,Q96N66,Q96GM5,P51608,Q96T58,Q9NUQ7,O60281 24 |
| Multiple mitochondrial dna deletions 0.6298202994357911 0.9920593354648312 0.3211685816629464 1.0 0.6778872752855896 3 P54098 1 |
| Nocturia 0.6298202994357911 0.9920593354648312 0.3211685816629464 1.0 0.6778872752855896 3 P54098 1 |
| Slow decrease in visual acuity 0.4652481732931119 0.9917330180338236 0.3213277799091307 1.0 0.6778872752855896 10 P00846 1 |
| Epiphora 0.5861038775338206 0.9912929367859008 0.3215425609338138 1.0 0.6778872752855896 5 O60832,Q15043 2 |
| Aplasia hypoplasia of the optic nerve 0.3734936588415534 0.9879491136897574 0.3231775703163555 1.0 0.6787236037572866 22 P37268,Q15058,Q9NVI7,Q8WWQ0,Q00839,Q9Y6N7,P18583 7 |
| Abnormal csf protein level 0.4420399217581275 0.9872920449250993 0.3234994893675742 1.0 0.6787236037572866 12 P20700,P30038,P55011,P54098,P02792 5 |
| Polyphagia 0.4643672627620391 0.9867610664095292 0.3237597853809433 1.0 0.6787236037572866 10 Q9H2P0,Q96T58 2 |
| Scaling skin 0.4639701286708931 0.9845201176718696 0.3248598448848983 1.0 0.6803402276009742 10 O15446,P78536 2 |
| Emg myopathic abnormalities 0.3348715404806678 0.9839969087071606 0.3251170328427215 1.0 0.6803402276009742 31 P09651,P22626,P50402,P02545,Q96RR1,P54098 6 |
| Abnormal sensory nerve conduction velocity 0.5247955426819337 0.9823369426071076 0.3259338804098879 1.0 0.6817401037611539 7 P54098 1 |
| Absent speech 0.2645355425113055 0.9816813545764058 0.3262568539021151 1.0 0.6821061662080502 123 P20700,Q6ZXV5,P63000,Q9NQT5,Q9Y4W2,Q9Y4A5,Q15067,Q96TA2,P51532,Q7Z3K3,P82930,P55011,P55795,Q96PU5,Q8NB90,O75746,Q00839,Q8TAQ2,Q96JM3,Q8TD30,P11166,Q14683,Q96JX3,Q96N66,O15121,P51608,Q96GM5,Q5JPH6,Q6ZRS2,Q96T58,P11233,Q8N201,Q5H8A4,Q68CP9,Q7L2E3 35 |
| Hyporeflexia of lower limbs 0.4633659701287718 0.9811116020688876 0.3265377096520856 1.0 0.68211075940967 10 Q5T440,Q9NYY8 2 |
| Abnormality of the lens 0.2489903439344038 0.9806413805130898 0.3267696205600154 1.0 0.6822499777090902 222 Q9NPE3,P62913,Q9Y467,Q9BYW2,O43395,O76024,Q01831,Q6ZXV5,P61313,Q8N2K0,P22626,Q96J42,Q8NC56,Q8ND04,P02545,Q12797,Q96RR1,Q8WWY3,Q06136,P23786,O60216,P09651,Q9UIG0,Q9UHB7,O14979,O15078,Q04721,Q8WVX9,Q9H2P0,O94906,Q9UQE7,Q9NX14,Q8IY17,Q9H9Y6,P02792,Q16134,Q9UBM7,Q9Y6X9,O60568,P08670,Q9BXW9,Q13428,Q9BVA1,P11166,Q14683,P54098,Q6KC79,P35240,P40818,P04439,O43837,O75695,P51608,O43172,Q13126,P54886,O75530,Q96T58,Q9NVI7,Q07020,Q6P2Q9,Q8N201,P07942,O60832,Q92560,Q9Y4P3,O14936 67 |
| Absence of pubertal development 0.5836057013899072 0.9803046528523646 0.3269357586739665 1.0 0.6822878440411886 5 Q8WWQ0 1 |
| Urogenital sinus anomaly 0.615305645594189 0.9786222358604768 0.3277666683096396 1.0 0.682627969322832 4 P24468,O14974 2 |
| Chronic lymphatic leukemia 0.6263615047913578 0.9778767878462584 0.3281352668154871 1.0 0.682627969322832 3 P55265 1 |
| Csf lymphocytic pleiocytosis 0.6263615047913578 0.9778767878462584 0.3281352668154871 1.0 0.682627969322832 3 P55265 1 |
| Chilblains 0.6263615047913578 0.9778767878462584 0.3281352668154871 1.0 0.682627969322832 3 P55265 1 |
| Flared metaphysis 0.4831403198399699 0.9774842658260844 0.3283294635379898 1.0 0.6827238732116072 9 Q14807,Q96HY6 2 |
| Abnormal patella morphology 0.3505167495806797 0.9751872351469368 0.3294673927933791 1.0 0.6834864838524219 27 Q14807,Q96PU5,Q9ULC3,Q9UIG0,Q6ZXV5 5 |
| Arachnoid hemangiomatosis 0.5532023849879142 0.9741689849827708 0.3299726415239621 1.0 0.6836736527754901 6 Q02978,P31040,P40926 3 |
| Hemangioblastoma 0.5532023849879142 0.9741689849827708 0.3299726415239621 1.0 0.6836736527754901 6 Q02978,P31040,P40926 3 |
| Calcinosis 0.5821138891221702 0.973748596322324 0.3301813817308301 1.0 0.6837988184093112 5 P02545 1 |
| Telangiectasia of the skin 0.3715577746290491 0.9729889846897504 0.3305587767887683 1.0 0.6842729955079578 22 Q99828,Q14739,P46100,Q01831,P02545,O60832 6 |
| Abnormal ureter morphology 0.3453173760979733 0.971680026856113 0.3312097561904328 1.0 0.6850053728299216 28 P23786,Q9BXW9,Q15058,Q9ULC3,Q9BYW2,O76024,O15078,Q9BU61,P02545,Q96J42,Q9H936,Q9UQE7,O14936,P23229 14 |
| Abnormal mitochondrial shape 0.6129685825212964 0.9688893874093172 0.3326003810479072 1.0 0.6865856721184578 4 P53597,Q7Z406 2 |
| Mixed hypo and hyperpigmentation of the skin 0.5809178206808685 0.968495440106016 0.3327969952223726 1.0 0.6865856721184578 5 P02545 1 |
| Clinodactyly 0.2570830423751958 0.9679547674070758 0.3330669603581389 1.0 0.6865856721184578 144 Q15427,Q03252,Q03164,Q9ULC3,Q8WWQ0,P02545,Q14669,Q7Z5J4,Q9Y4A5,Q9UIG0,P51532,O75367,P55011,Q9UQE7,Q8IY17,Q15022,Q69YQ0,Q9BXW9,O60341,P46100,Q8TAQ2,Q14683,Q6KC79,Q15233,Q9Y2U8,Q9UGU0,Q96GM5,P98175,P51608,Q6ZRS2,Q96T58,P11233,O60281,Q9Y4P3,Q68CP9,Q8WVM7 36 |
| Short sternum 0.623902136510379 0.9678065585426978 0.3331409877128464 1.0 0.6865856721184578 3 Q6KC79 1 |
| Spotty hyperpigmentation 0.5533432392273419 0.9670847582943418 0.3335016642476747 1.0 0.6866648826180359 2 O75531 1 |
| Oligospermia 0.5533432392273416 0.9670847582943408 0.3335016642476751 1.0 0.6866648826180359 2 P16435 1 |
| Feeding difficulties in infancy 0.2407029265862288 0.9656420265361532 0.3342233380130381 1.0 0.6875961940053608 174 P37268,P31040,Q12768,Q9H0U9,P63000,Q9H936,P23786,Q7Z5J4,O60216,Q99720,O43819,P50747,Q9UHB7,Q96ST3,O95831,Q7Z3K3,Q9H2P0,Q9UQE7,Q9NPL8,P18583,Q9H490,Q13724,Q15022,Q9UBM7,Q8NB90,P46100,Q9NZJ7,Q12959,Q8TAQ2,Q96JM3,P16219,Q8TD30,P53007,Q969Y2,Q14683,Q6KC79,Q16836,Q15233,P61978,O15121,P51608,Q96GM5,Q9NVI7,Q96T58,Q8N5K1,P22695,O14936 47 |
| Ketosis 0.3779570881695265 0.9655841831912194 0.334252293007812 1.0 0.6875961940053608 20 P11310,P26440,Q15046,P35610,Q96RR1,P54098 6 |
| Juvenile aseptic necrosis 0.5508130530723641 0.963117596214746 0.3354885122386717 1.0 0.6889095952874283 6 Q9NUQ7 1 |
| Increased connective tissue 0.5204875725431375 0.961232401385597 0.3364353281893057 1.0 0.6893472877158349 7 O95831 1 |
| Non midline cleft lip 0.5503145147712014 0.9608132375377296 0.3366460814577821 1.0 0.6893472877158349 6 Q15427 1 |
| Functional abnormality of the inner ear 0.2493600235443711 0.9601052768787404 0.337002232949585 1.0 0.6893472877158349 252 Q9NQH7,P20700,Q14126,P53597,Q01831,Q9UHB7,O95831,Q96F86,P55011,Q16740,Q9UQE7,Q9NX14,Q9NPL8,P00846,Q9UBM7,O75616,Q8NB90,Q6KC79,P61978,P51608,Q96T58,Q8N5K1,Q9Y4P3,Q8WWQ0,Q8N2K0,P63000,P23634,Q8WWY3,Q9Y4A5,Q15067,O94906,Q13724,P46100,Q9NZJ7,Q15046,Q14980,Q13148,O14936,P14923,P31040,Q9ULC3,P38159,P02545,O96028,O60216,P42167,O00567,Q9UIG0,Q8NI27,Q8WVX9,Q8IY17,P33527,P11274,P51572,Q14683,P54098,P35240,Q5JRA6,Q7Z406,Q96JX3,O43172,O43837,O75695,P54886,Q6P2Q9,Q6UN15,Q9BU61,Q9Y399,Q15031,O15269,O75251,O43395,O76024,Q96RR1,P42166,P35251,Q7Z3K3,P53007,Q15043 79 |
| Autism 0.3147575727677427 0.9600154103960576 0.3370474591131218 1.0 0.6893472877158349 44 Q9Y4P3,Q7Z5J4,Q06787,O60216,Q9UBM7,Q15233,P51608,Q9UIG0,P51649,P46100,Q96T58,Q96F07,Q9UQE7,Q14683,Q6KC79 15 |
| Retinal arteriolar tortuosity 0.4592932806612451 0.9581555365571346 0.3379843343286963 1.0 0.6906506122585506 10 P00846,Q9UIG0 2 |
| Abnormal circulating androgen level 0.4129028264946327 0.9563065391171136 0.3389173871860893 1.0 0.6910867211694646 15 Q9NW13,Q8WWQ0,P35240 3 |
| Abnormality of peripheral nerves 0.3146274888401522 0.955901817897326 0.3391218404744411 1.0 0.6910867211694646 47 Q9Y6X9,Q99720,O15121,P43243,Q8N2K0,O95831,P02545,P54098 8 |
| Poor eye contact 0.3155328758090082 0.9553449012823596 0.3394033077437626 1.0 0.6910867211694646 42 Q96N67,Q8NB90,P51608,Q96T58,Q9NX14,Q14683,P53007,Q96RR1,Q9NPL8,Q06787 10 |
| Wide nasal ridge 0.6096435721826469 0.955060808967632 0.3395469465181859 1.0 0.6910867211694646 4 Q15022 1 |
| Abnormality of toe 0.2412833488237071 0.9540824840621592 0.3400418916733085 1.0 0.6917886675260161 179 P37268,Q14692,Q15427,Q03164,Q9ULC3,Q9BYW2,Q96J42,P02545,O96028,P23786,Q99720,Q9UIG0,Q9H2P0,Q96PU5,Q9UBM7,Q15022,Q69YQ0,Q9Y6X9,Q14739,Q14683,Q6KC79,Q9UGU0,P51608,Q96T58,P11233,Q8N201,Q5H8A4 27 |
| Hypogonadism 0.2705220444640956 0.9529525648712964 0.340614105191015 1.0 0.6926471217161796 93 Q8WWQ0,O43395,Q01831,P02545,Q96RR1,Q8WWY3,Q9Y4W2,Q9NW13,Q9UIG0,Q9Y2R9,O15078,O94906,Q16740,Q8IY17,Q9BXW9,P17252,P46100,P54098,Q06787,P35240,O43172,O43837,O75695,P51608,Q4J6C6,Q96T58,Q6P2Q9,Q8N5K1,Q9H7N4,Q92560,Q9Y4P3 31 |
| Abnormal size of pituitary gland 0.5483660282361573 0.951812142490486 0.3411922628227555 1.0 0.6935169010638901 6 Q92560,P35222,P35240 3 |
| Abnormal prolactin level 0.5480527617385923 0.9503657948579356 0.3419264179192955 1.0 0.6941735378233169 6 Q9NW13 1 |
| Breech presentation 0.5177890104650984 0.9480334183801744 0.3431124417261764 1.0 0.6943583653896722 7 P18583,Q9UBM7 2 |
| Thoracic kyphoscoliosis 0.5473957240510701 0.9473329916654392 0.343469124450245 1.0 0.6947751925035671 6 P02545 1 |
| Hernia 0.2589272597149129 0.9464296408460712 0.3439294930684737 1.0 0.6950964327249732 137 Q12768,Q9ULC3,Q9BYW2,Q6ZXV5,P32322,P63000,O96028,Q9H936,Q6NUK1,O14974,O60216,P24928,P24468,Q9Y4A5,Q9UIG0,P51532,Q96ST3,O14497,Q04721,Q7Z3K3,Q9H2P0,Q8WYQ5,Q9UQE7,Q9NX14,Q9NRZ9,Q32P28,Q96PU5,Q9UBM7,Q15022,Q69YQ0,Q9BXW9,P11274,Q14739,Q15643,P46100,Q02809,Q8TAQ2,Q14683,Q6KC79,Q96GM5,P51608,P50454,O75530,Q6ZRS2,Q5H8A4,Q9Y4P3,Q68CP9,O14936 48 |
| Fibular hypoplasia 0.5465393859674389 0.9433817497888836 0.3454856746462098 1.0 0.6968422950757875 6 Q9UHB7 1 |
| Widely patent fontanelles and sutures 0.606801175281219 0.94325765514544 0.3455491294020065 1.0 0.6968422950757875 4 P02545 1 |
| Metaphyseal dysplasia 0.4459384900664968 0.9429019421377268 0.3457310614293336 1.0 0.6969043258370039 11 O95831 1 |
| Chills 0.6174197384066504 0.9413243411971116 0.3465386725286499 1.0 0.6975277260888599 3 P11171,P55084 2 |
| Sprengel anomaly 0.3299467459263099 0.9393669124766694 0.3475423948539318 1.0 0.6989662669906697 31 P62913,Q15427,Q9Y2W2,P61353,Q07020,P21333,P50402,P61313,P46777,P02545,P19022,Q8WXH0,Q9BTV4 13 |
| Broad nasal tip 0.3127167041700749 0.9381573302784492 0.3481635629727864 1.0 0.6991961079955604 49 Q9Y4W2,Q96N67,O43292,Q96GM5,P51608,P51532,Q6ZRS2,Q8TAQ2,O95831,Q7Z3K3,P10586,Q9H2P0,Q68CP9 13 |
| First degree atrioventricular block 0.6165374193368215 0.9377270508333124 0.3483846984958356 1.0 0.6991961079955604 3 P02545 1 |
| Abnormal hand morphology 0.2624065340196667 0.9357403230157496 0.3494069040487784 1.0 0.7000286082854709 114 P62913,Q03252,Q03164,Q9BYW2,P61313,P02545,P63000,O96028,Q9H936,Q6NUK1,O60216,P51532,Q96ST3,O14497,O95831,Q04721,Q9UQE7,Q13724,Q15022,P42356,Q9UBM7,Q9BXW9,P11274,O60341,Q8TAQ2,Q9ULH0,Q14683,Q6KC79,Q96GM5,P51608,O75530,Q6ZRS2,Q5H8A4,Q68CP9,O14936 35 |
| Abnormal hair pattern 0.2620858303694472 0.9326801928046768 0.3509851146311245 1.0 0.700940203844706 119 P62913,Q12768,Q9BYW2,Q92643,P29372,P61313,P02545,O96028,Q6NUK1,Q14669,O60216,P51532,Q96ST3,O14497,O95831,Q04721,P55011,Q9H2P0,Q9UQE7,P36551,Q86W42,Q69YQ0,Q96N67,O60341,Q13428,Q8TAQ2,P19022,O60934,P11166,Q14683,Q6KC79,Q9UGU0,Q96GM5,P98175,Q6ZRS2,Q96T58,Q5H8A4,Q68CP9 38 |
| Neoplasm of the ear 0.604003064608664 0.931655710470424 0.3515144820904594 1.0 0.700940203844706 4 Q9BYW2,P35240 2 |
| Abnormality of the hairline 0.2688008975483298 0.9270529448031816 0.3538990457335438 1.0 0.700940203844706 93 P62913,Q12768,Q9BYW2,Q92643,P29372,P61313,O96028,Q6NUK1,O60216,P51532,Q96ST3,O14497,O95831,Q04721,Q9H2P0,Q9UQE7,P36551,Q86W42,Q69YQ0,Q96N67,O60341,Q13428,Q8TAQ2,P19022,O60934,Q14683,Q6KC79,Q96GM5,Q6ZRS2,Q96T58,Q5H8A4,Q68CP9 32 |
| Secundum atrial septal defect 0.6028738395072156 0.9269786013019424 0.3539376447110633 1.0 0.700940203844706 4 P24468,P62913 2 |
| Transient global amnesia 0.6027579441782356 0.9264987454729005 0.3541868487674082 1.0 0.700940203844706 4 P35240 1 |
| Hypothalamic hypothyroidism 0.6027579441782356 0.9264987454729005 0.3541868487674082 1.0 0.700940203844706 4 P35240 1 |
| Visual acuity test abnormality 0.6027579441782356 0.9264987454729005 0.3541868487674082 1.0 0.700940203844706 4 P35240 1 |
| Brain stem compression 0.6027579441782356 0.9264987454729005 0.3541868487674082 1.0 0.700940203844706 4 P35240 1 |
| Progressive pulmonary function impairment 0.6027579441782356 0.9264987454729005 0.3541868487674082 1.0 0.700940203844706 4 P35240 1 |
| Intracranial meningioma 0.6027579441782356 0.9264987454729005 0.3541868487674082 1.0 0.700940203844706 4 P35240 1 |
| Ear pain 0.6027579441782356 0.9264987454729005 0.3541868487674082 1.0 0.700940203844706 4 P35240 1 |
| Decreased circulating follicle stimulating hormone concentration 0.6027579441782356 0.9264987454729005 0.3541868487674082 1.0 0.700940203844706 4 P35240 1 |
| Neuralgia 0.6027579441782356 0.9264987454729005 0.3541868487674082 1.0 0.700940203844706 4 P35240 1 |
| Decreased pulmonary function 0.6027579441782356 0.9264987454729005 0.3541868487674082 1.0 0.700940203844706 4 P35240 1 |
| Eclabion 0.3199812692917359 0.9264270270780188 0.354224103879607 1.0 0.700940203844706 36 Q69YQ0,Q96N67,P51608,Q9UIG0,P46100,Q96JM3,Q9H2P0,Q9Y4P3,Q7L2E3 9 |
| Microglossia 0.5712931689779789 0.92633618600211 0.3542712960863698 1.0 0.700940203844706 5 P08754,Q03252,Q9UBM7 3 |
| Ventricular fibrillation 0.5427693765128563 0.9260075271625628 0.3544420684979563 1.0 0.7009772354249587 6 P49748,Q99959 2 |
| Neurodegeneration 0.3349655201005656 0.924388944477804 0.3552838486711529 1.0 0.7011380746464105 29 P09651,Q13148,P43243,Q92804,P50995,Q96PY6,P55265,O60934,P02792,Q5JTZ9,Q9Y3Z3 11 |
| Abnormality of the axillary hair 0.4930045182090915 0.9237862714769818 0.3555976043072619 1.0 0.7014569772599389 8 P62304,Q02487,Q9H7N4,Q8WWQ0 4 |
| Optic neuropathy 0.3572637000340847 0.9227508864653752 0.3561370406770034 1.0 0.7022205977420812 24 Q9NPL8 1 |
| Abnormal labia morphology 0.3943254166370584 0.921008428951251 0.3570460263537627 1.0 0.7030084668131297 17 O60216,Q9NP72,Q8IY37,P02545,Q14683,Q9UQE7,Q6NUK1,Q6KC79 8 |
| Abnormality of the curvature of the vertebral column 0.240018422839425 0.9208158072358902 0.3571466007107049 1.0 0.7030084668131297 324 P20700,P48735,P32322,Q14669,Q99720,P09651,O00459,O95831,Q04721,P82930,P55011,Q32P28,P55795,Q9UBM7,Q8NB90,O75787,Q8TAQ2,P16219,Q9UGU0,O15121,P51608,P61978,P98175,Q96T58,Q9NUQ7,Q99567,O60832,Q9Y4P3,Q9NPE3,Q15427,Q03252,Q12768,Q6ZXV5,P51530,P63000,P55265,Q7Z5J4,Q9NW13,Q9Y4A5,P51532,O00571,O14497,O15078,P09543,Q96PU5,Q15643,P46100,Q96JM3,Q06787,Q9Y2U8,Q8N201,P62913,Q9ULC3,Q9BYW2,P02545,O96028,Q96HY6,Q14807,P10412,Q9UIG0,Q96AY3,Q9H490,Q15022,Q9Y6X9,Q14739,O75477,Q00839,Q14683,Q96GM5,Q5H8A4,Q68CP9,Q8WVM7,P22626,P50402,P18583,Q9BXW9,P53007,Q15043,Q15233,Q9NVI7,Q6ZRS2 81 |
| Abnormal ventricular septum morphology 0.2475936610090952 0.9203440879983744 0.3573929767290535 1.0 0.7031931808454703 156 P62913,Q15427,Q12768,Q9ULC3,Q9BYW2,P61313,Q8NC56,P63000,Q8ND04,O96028,P49748,Q7Z5J4,P24468,O00459,Q9UIG0,P51532,Q9UHB7,O14497,O15078,Q04721,P55011,Q9UQE7,Q9NX14,P18583,Q9UBM7,Q69YQ0,Q14739,O43678,P46100,Q8TAQ2,Q14683,Q6KC79,Q15233,O95299,Q14839,P61978,Q96GM5,Q96T58,Q9Y4P3,Q68CP9 40 |
| Abnormal hair morphology 0.2319129906173078 0.9186889455101632 0.3582582935415783 1.0 0.7039943449389071 355 Q03164,P20700,P29372,Q01831,P32322,Q92925,Q06136,Q14669,Q9Y4W2,P78536,O43819,Q9UHB7,P62304,O95831,Q04721,P55011,Q9UQE7,Q02487,Q9NX14,P62266,P55795,Q9UBM7,Q8NB90,O60341,O43678,Q13428,Q9BRT2,Q8TAQ2,P11166,Q6KC79,O95299,Q9UGU0,P61978,P98175,Q13126,Q96T58,O60281,O60832,Q9NPE3,Q15427,Q03252,Q12768,Q9Y4I1,Q8WWQ0,P61313,P63000,Q7Z5J4,Q9NW13,Q9Y4A5,P51532,O14497,O15078,Q9H2P0,P36551,P09543,Q13724,Q86W42,Q6P1M0,P19022,O60934,Q06787,P40818,Q9Y2U8,Q4J6C6,Q8N201,Q9H7N4,P14923,P37268,P31040,P62913,Q9BYW2,Q92643,Q96F07,P02545,O14646,O96028,Q6NUK1,O60216,P50336,P50747,Q96ST3,Q8WVX9,Q8IY17,Q9H9Y6,Q9H490,Q15022,Q69YQ0,O60568,P11274,P17252,Q00839,Q14683,Q96GM5,P11233,Q5H8A4,Q68CP9,Q8WVM7,P18583,P02792,Q96N67,Q9NVI7,Q6ZRS2,Q7L2E3 103 |
| Mitochondrial myopathy 0.3258346404056128 0.917921428559905 0.3586600021613977 1.0 0.7041833943628805 32 P00846,Q9NX14,Q96RR1,Q9NPL8,P54098 5 |
| Action tremor 0.3058997034651331 0.9169189089138512 0.3591851346099717 1.0 0.7049142062801063 58 P00846,Q9NQH7,Q06787,P35251,Q99720,P20700,O00567,Q8N2K0,Q8NC56,Q5T8D3,Q8IY17,P54098,Q15233 13 |
| Abnormality of neutrophil morphology 0.5687585475279489 0.9152698723285116 0.3600499712828036 1.0 0.7063107947292444 5 Q14739 1 |
| Patchy changes of bone mineral density 0.6107253725338634 0.9140771128340506 0.3606763277485685 1.0 0.7066374292056528 3 Q14739 1 |
| Tachypnea 0.3637306801981381 0.9126972449591774 0.3614017933050542 1.0 0.7073258503282575 22 P49748,P51608,P35610 3 |
| Abnormal forearm bone morphology 0.3708321114678429 0.9125333818527568 0.3614880050701463 1.0 0.7073258503282575 20 Q9BXW9,Q15427,Q15643,Q9UHB7,Q6KC79,Q32P28 6 |
| Abnormality of upper lip 0.2470666128681767 0.909051892128268 0.3633227348861048 1.0 0.7086641830746336 261 Q03164,P20700,P29372,Q8NC56,Q14669,Q9Y4W2,Q9UHB7,Q04721,P55011,Q9UQE7,P55795,Q9UBM7,O60341,Q13428,Q8TAQ2,P11166,Q6KC79,Q9UGU0,P61978,P51608,Q96T58,O60281,Q9Y4P3,Q9P273,Q15427,Q8WWQ0,Q8ND04,Q7Z5J4,Q9Y4A5,P51532,O00571,O14497,Q9H2P0,P55201,Q86W42,Q15643,P46100,Q9ULH0,Q96JM3,Q15046,P19022,O60934,O75718,Q4J6C6,Q8N201,O14936,P14923,Q15058,Q92643,Q96F07,O96028,Q6NUK1,O14974,O60216,Q9UIG0,Q96ST3,Q8WVX9,P10586,Q9H9Y6,Q9H490,Q15022,Q69YQ0,O60568,P11274,P17252,Q00839,Q14683,Q96GM5,P11233,Q5H8A4,Q68CP9,Q9Y3B2,Q7Z3K3,P18583,Q96N67,Q15233,Q6ZRS2 77 |
| Neck muscle weakness 0.3992328159346404 0.9086634604896504 0.3635277973634654 1.0 0.7086641830746336 16 Q86U42,Q99720,Q9Y6X9,P02545 4 |
| Myelofibrosis 0.5405646359583967 0.9082924636875392 0.3637237231574606 1.0 0.7086641830746336 2 P04637 1 |
| Polycythemia 0.5402674591381889 0.9069315653790624 0.3644429876350168 1.0 0.7086641830746336 2 P00387 1 |
| Paralysis 0.3078785254199881 0.9064979527334168 0.3646723480045741 1.0 0.7086641830746336 54 P31040,P42356,Q9Y6X9,P09651,P20700,Q13148,P50336,P43243,Q92804,P50995,P54886,P50402,P02545,Q8WXH0,P11166,P54098,P36551,Q15233 18 |
| Lower limb muscle weakness 0.3094484741881495 0.9058678857904628 0.3650057840153515 1.0 0.7087938771317485 44 Q12768,P02545,P55265,Q9Y4W6,P07196,P55084,O43819,Q14315,Q15120,Q96T60,Q8IY17,O00400,P00846,O94905,Q9Y6X9,Q00796,Q5T440,Q8N0X7,P53007,P35240,Q7Z406,P54886,P10809,Q92560,P19367 25 |
| Lethargy 0.2709794546927703 0.9041713410302544 0.3659045541781549 1.0 0.7102399977942292 86 P62913,P11310,O75251,P26440,P61313,Q9H936,Q96RR1,P23786,P49748,O43772,P35914,P55084,P61353,P50747,P09622,Q9NX14,Q9NPL8,Q5U5X0,P16219,P11166,Q14683,P54098,Q16836,P40818,P08559,Q07020,P46777,Q96CU9,Q9BU61 29 |
| Neoplasm of the small intestine 0.597172459553016 0.9034109874655356 0.3663078107243618 1.0 0.7105053659201561 4 P02545 1 |
| Mesomelia 0.4889909298431933 0.9033323862992731 0.3663495129701108 1.0 0.7105053659201561 8 Q15643,Q9UBM7 2 |
| Wide nasal bridge 0.2391453910838032 0.9025517552754592 0.3667638414332868 1.0 0.7110098019375324 166 P62913,Q03164,P20700,Q12768,Q15058,P29372,O43395,P61313,P02545,O96028,Q8WWY3,Q14669,Q7Z5J4,Q9Y4A5,Q15067,Q9UIG0,O95602,O00571,Q04721,P55011,Q9H2P0,P55201,Q9NX14,P18583,Q9UBM7,Q69YQ0,O60341,P46100,Q13428,P11166,Q9UGU0,P61978,P98175,P51608,Q9NVI7,Q96T58,P11233,Q8N201,Q5H8A4,Q9Y4P3 40 |
| Abnormality of somatosensory evoked potentials 0.6072282998671438 0.8998879075433959 0.3681799060011075 1.0 0.7128556768858066 3 Q9Y6X9 1 |
| Abnormality of facial adipose tissue 0.5961502007275226 0.899193921983516 0.3685493772284025 1.0 0.7132714647451451 4 P02545 1 |
| Chronic hepatic failure 0.6068866736168015 0.898503501199213 0.368917179461782 1.0 0.713468090970416 3 P55084 1 |
| Mutism 0.3910168621125822 0.8983858081965355 0.368979899865351 1.0 0.713468090970416 17 P09651,P51608,P22626,Q14683,P02792 5 |
| Hypoplasia of the frontal lobes 0.4877710851236923 0.8971253573803346 0.3696520292225878 1.0 0.7142061419598197 8 Q9UBM7 1 |
| Corticospinal tract hypoplasia 0.6064449701405308 0.896714006949586 0.3698715444643423 1.0 0.7143308839466352 3 Q7Z5J4 1 |
| Optic nerve hypoplasia 0.3760628380798277 0.8942672393063678 0.3711789238884684 1.0 0.7156942718733725 19 P37268,Q15058,Q9NVI7,Q8WWQ0,Q9Y6N7,P18583 6 |
| Delayed gross motor development 0.259869221051457 0.8942306760222641 0.3711984824401808 1.0 0.7156942718733725 113 Q03252,Q03164,P20700,Q15058,Q7L2E3,Q9NYY8,Q6ZXV5,O60508,Q14669,Q7Z5J4,Q99720,O60783,P24928,Q9Y4A5,Q8WVX9,P55011,P55201,P18583,Q9Y6X9,O60341,P34897,Q9ULH0,Q15046,P19022,P53007,Q14683,Q15233,Q96N66,Q9UGU0,P61978,P51608,Q96GM5,P11233,Q5H8A4,O14936 35 |
| Macrocephaly at birth 0.5372956909361085 0.8933399595887809 0.3716751449261664 1.0 0.7163137199454963 2 Q8NCE2 1 |
| Abnormal larynx physiology 0.3966147461576785 0.8912255691709089 0.3728081697549898 1.0 0.717068044586094 16 Q9H0U9,P43243,P09651 3 |
| Abnormal esophagus physiology 0.2457680223503114 0.8896896652069971 0.3736325448438427 1.0 0.7170882729933866 233 Q03164,P20700,Q9H0U9,Q9BYW2,O15269,P48735,P29372,P53597,Q6ZXV5,P32322,O96028,Q96RR1,P49748,P35658,Q99720,O43819,O00567,Q86U42,Q9UIG0,Q9UHB7,Q7Z3K3,P82930,P55011,Q9H2P0,Q9UQE7,P18583,P02792,P00846,P55795,Q96PU5,Q9UBM7,Q69YQ0,Q14739,P46100,Q12959,Q96JM3,P53007,Q14683,P54098,Q6KC79,Q06787,P35240,Q15233,P51608,P43243,Q6ZRS2,Q96T58,Q68CP9,Q8WVM7 49 |
| Lower extremity joint dislocation 0.2791967894490366 0.8893448219173608 0.3738177896568682 1.0 0.7171452394166302 74 Q14807,Q15427,Q96PU5,Q9BXW9,Q9UBM7,Q9UIG0,Q6ZXV5,P32322,Q04721,P02545,P55011,O96028,P53007,Q14683,Q6KC79,Q9NQT5 16 |
| Lethal skeletal dysplasia 0.603868722421588 0.8862873571456115 0.3754627000772652 1.0 0.7182943094483142 3 Q15643 1 |
| Hypoplastic labia majora 0.4361412695431944 0.8861156982434275 0.3755551846134557 1.0 0.7182943094483142 11 Q9UQE7,Q6NUK1,Q6KC79,Q14683 4 |
| Abnormal labia majora morphology 0.4361412695431944 0.8861156982434275 0.3755551846134557 1.0 0.7182943094483142 11 Q9UQE7,Q6NUK1,Q6KC79,Q14683 4 |
| Disproportionate short limb short stature 0.3602385237060233 0.8859151540501775 0.3756632494750294 1.0 0.7182943094483142 22 Q15643,Q9UBM7,Q03164 3 |
| Aplasia hypoplasia of the eyelid 0.424880844213327 0.8841553662705554 0.3766123487607307 1.0 0.7193292701481323 12 Q15427,Q13428 2 |
| Progressive pes cavus 0.5924747629189339 0.8840546969221745 0.3766666870521837 1.0 0.7193292701481323 4 P54886,Q12768 2 |
| Hydrocephalus 0.2719455166170738 0.8834762439113022 0.3769790123476948 1.0 0.7196162513138191 77 Q9BXW9,Q9UBM7,Q15427,P35240,O00459,Q00839,P32322,Q04721,Q96J42,P07942,O96028,P11166,Q14683,O60508,Q9H490,P23786 16 |
| Bicornuate uterus 0.5044163405910409 0.8829077281692319 0.3772861277578028 1.0 0.7196348682403009 7 Q15427,Q9UBM7,Q69YQ0 3 |
| Abnormality of the peripheral nervous system 0.2621812004912901 0.8810689498264077 0.3782805019502588 1.0 0.7200578228787116 98 Q15427,Q9H0U9,Q9BYW2,O15269,Q8N2K0,P02545,Q96RR1,P35251,Q99720,O95831,Q9UBM7,Q9Y6X9,P46100,Q14683,P54098,Q06787,O15121,P51608,P43243 19 |
| Conical tooth 0.4455577599830789 0.8810631877421166 0.3782836205035449 1.0 0.7200578228787116 10 Q9Y6K9,P17252,Q12959,Q9Y487,Q96PY6,Q92925 6 |
| Shoulder dislocation 0.5608905660922316 0.8810260919888863 0.3783036978334575 1.0 0.7200578228787116 5 Q6ZXV5 1 |
| Impacted tooth 0.6022915697937945 0.8799134220651517 0.3789062130267038 1.0 0.7208454372020868 3 P02545 1 |
| Intellectual disability severe 0.2497324749888798 0.8785246248082414 0.3796590803029365 1.0 0.7217436536892937 149 Q15058,Q9BYW2,P53597,O96028,O60508,Q9Y320,P51532,Q96F86,Q7Z3K3,P55011,Q9UQE7,P35610,P18583,Q9H490,P00846,Q8NB90,O43678,P46100,P51572,Q00839,Q8TAQ2,Q96JM3,Q14683,Q6KC79,O95299,Q96N66,Q96GM5,P51608,Q6PJT7,Q9NUQ7,Q5H8A4,Q68CP9,Q8WVM7 33 |
| Aplasia hypoplasia involving the skeleton 0.2393820597012921 0.8771999927939077 0.3803780200037083 1.0 0.7221209067517587 319 Q9Y4P3,P37268,P62913,Q15427,Q03252,Q03164,Q15058,Q9ULC3,Q12768,P48735,Q8WWQ0,P53597,P61313,P51530,Q96J42,P02545,Q8ND04,O96028,Q8NC56,P63000,Q96HY6,Q14669,Q7Z5J4,Q14807,Q9Y4W2,Q9Y4A5,Q9UIG0,P51532,Q96AY3,Q9UHB7,O95602,O75367,O14497,O95831,Q04721,O15078,Q9H2P0,P55011,Q9UQE7,Q9NX14,P18583,Q32P28,P55795,Q96PU5,Q9UBM7,Q15022,Q69YQ0,Q9BXW9,P42356,Q14739,O60341,Q15643,P46100,O75787,Q13428,Q00839,Q8TAQ2,P53007,Q14683,Q6KC79,Q06787,Q9Y2U8,Q14839,Q9UGU0,Q96GM5,P51608,Q9NVI7,P98175,Q6ZRS2,Q96T58,Q99567,Q8N201,O60281,Q5H8A4,Q68CP9,Q8WVM7 76 |
| Abnormality of the outer ear 0.2324826514201624 0.877004680210284 0.3804840959869895 1.0 0.7221209067517587 348 Q03164,P20700,P32322,Q92925,Q06136,Q14669,Q9Y4W2,P78536,O60783,Q9UHB7,O95831,Q04721,P55011,Q9UQE7,Q9NX14,P62266,Q9UBM7,O75787,Q13428,P11166,Q6KC79,Q9UGU0,P61978,P51608,P98175,Q96T58,Q99567,O60281,Q9Y4P3,Q9P273,Q15427,Q12768,Q8WWQ0,P61313,Q96J42,P63000,Q8ND04,P55265,P23786,Q7Z5J4,Q9Y4A5,Q15067,O95602,O14497,O15078,Q9H2P0,P55201,P08754,P36551,P46100,Q96JM3,Q8TD30,P19022,O60934,Q06787,Q4J6C6,Q8N201,O14936,P14923,P37268,P62913,Q15058,Q9ULC3,Q92643,P38159,P02545,O96028,Q6NUK1,O14974,O60216,Q9UIG0,Q96ST3,Q8NI27,P10586,Q8WVX9,Q5T8D3,Q8IY17,Q9H9Y6,Q9NRZ9,Q9H490,Q15022,Q69YQ0,Q16134,O60568,Q14739,P11274,Q14683,Q96GM5,P11233,Q5H8A4,Q68CP9,Q8WVM7,Q96TA2,Q7Z3K3,P18583,Q9BXW9,Q96N67,P53007,Q14839,Q6ZRS2,Q7L2E3 101 |
| Upper limb undergrowth 0.3808572960278389 0.8763922739896529 0.3808168170050985 1.0 0.7221830068613991 18 Q15427,Q14739,Q15643,Q9UHB7,Q6KC79 5 |
| Aplasia hypoplasia of the cerebral white matter 0.4836280695360253 0.8760795602090398 0.3809867836631069 1.0 0.7221830068613991 8 Q9Y320,P11166 2 |
| Syndactyly 0.2608795422476982 0.8733642426082784 0.3824645745066817 1.0 0.7240910424951961 99 P37268,Q9Y2U8,Q14692,Q9UBM7,Q15427,Q96PU5,Q15022,Q9ULC3,Q69YQ0,P51608,Q9BYW2,P11233,Q8IY17,P02545,Q9H2P0,P11166,Q14683,Q6KC79 18 |
| Abnormality of primary teeth 0.3999858935416517 0.8722093326250586 0.3830941891337218 1.0 0.724687817770397 15 Q9ULC3,P61978,Q6ZRS2,P02545,Q8NC56 5 |
| Deviation of the hand or of fingers of the hand 0.258485146283988 0.8708607357195035 0.3838301978585008 1.0 0.725340272160009 117 Q15427,Q03252,Q03164,Q9ULC3,P02545,Q7Z5J4,Q9NW13,Q9Y4A5,Q9UIG0,O75367,Q9UQE7,Q8IY17,Q9BXW9,P42356,Q9UBM7,Q69YQ0,Q14739,O60341,P46100,Q14683,Q6KC79,Q15233,Q9Y2U8,Q9UGU0,P51608,Q6ZRS2,Q96T58,O60281,Q9Y4P3,Q8WVM7 30 |
| Absent toenail 0.4824560906006244 0.8701365209951637 0.384225801434868 1.0 0.725340272160009 8 P14923,Q14739,O14497 3 |
| Eruption failure 0.5301968045605563 0.8683442120278216 0.3852059255392173 1.0 0.7265954651128443 6 P02545 1 |
| Lower limb spasticity 0.2684379308548231 0.8676961878668975 0.3855606733306489 1.0 0.7269671591224096 86 P31040,Q12768,Q96KR1,P55265,Q9Y4W6,Q99720,O95831,Q8IY17,P00846,P42356,Q5T440,O43678,O75787,P46100,Q9NZJ7,O75477,Q9ULH0,Q8TD30,P11166,P54098,P40818,O95299,P51608,P07942 24 |
| Paroxysmal involuntary eye movements 0.3612278328606495 0.8662538647912581 0.3863509602885422 1.0 0.7277017481471024 21 Q9NPL8 1 |
| Cerebellar malformation 0.3004423394779907 0.8658887108579656 0.3865511945338817 1.0 0.7277017481471024 59 Q12768,Q9BYW2,Q96J42,Q9NQT5,P23786,Q9UIG0,P51532,O14497,Q04721,P18583,Q9UBM7,Q8TAQ2,Q15043,Q15233,Q9Y2U8,Q14839,Q96GM5,Q99567,Q9Y4P3,Q68CP9 20 |
| Aplasia hypoplasia of the thumb 0.3058668605972895 0.8658331122580589 0.3865816878985366 1.0 0.7277017481471024 46 P62913,Q15427,Q03252,P61313,O96028,O60885,O60216,P61353,Q13618,Q96ST3,Q9UQE7,P18583,Q9BXW9,Q9UBM7,O60341,Q14683,Q6KC79,Q6ZRS2,Q07020,P21333,P46777,Q5H8A4 22 |
| Impaired social interactions 0.305321870747629 0.8652435726268402 0.3869051145257074 1.0 0.7277189739980852 51 Q96N67,Q8NB90,P51608,Q96T58,Q9NX14,Q14683,Q9H2P0,P53007,Q96RR1,P11166,Q9NPL8,Q06787 12 |
| Airway obstruction 0.4101219724793849 0.8641751605788391 0.387491675278973 1.0 0.7277871391757157 13 P09601,P02545,Q96HY6 3 |
| Abnormality of complement system 0.5983456611908673 0.8639980098993854 0.3875889837941866 1.0 0.7277871391757157 3 P02545 1 |
| Abnormal epiphysis morphology of the phalanges of the hand 0.4322810982063034 0.863836330425638 0.3876778070074815 1.0 0.7277871391757157 11 Q5JRA6,Q9ULC3,Q15643,Q6ZRS2,Q96PY6 5 |
| Abnormality of the inner ear 0.4422478778248409 0.8625784786134998 0.3883692673177437 1.0 0.7286863338765968 10 P35240,Q15046,Q6ZRS2,Q13428 4 |
| Decreased calvarial ossification 0.5870583527531975 0.8618129814584476 0.3887904402021891 1.0 0.729179792242511 4 P02545 1 |
| Patent foramen ovale 0.3225859825927707 0.858900347640212 0.3903954976105979 1.0 0.7307037125395275 30 Q7Z5J4,P49748,P20700,O60341,P53597,Q9UHB7,P63000,Q8ND04,Q15233 9 |
| Diastema 0.4794293634616207 0.8548106695227399 0.3926559705303067 1.0 0.7329079109481541 8 P46100 1 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 0.5545984567935682 0.8537705642360628 0.3932321272061223 1.0 0.7336301523351776 5 P54098 1 |
| Moderate global developmental delay 0.4598784058925636 0.8532326966880631 0.3935302747459341 1.0 0.7336318081609264 9 O95831 1 |
| Aplasia hypoplasia of the femur 0.402722929659967 0.8522775411587654 0.3940600681758435 1.0 0.7342833121627479 14 O95831,Q96HY6,Q14839 3 |
| Foot dorsiflexor weakness 0.3168224402368598 0.8519421308024427 0.3942462116580838 1.0 0.7343333477752592 33 Q7Z5J4,Q99720,Q9Y6X9,O43819,O60318,Q14739,O15269,P02545,Q15046,P54098,P35240 11 |
| Abnormal vena cava morphology 0.440080587850058 0.8504976279273196 0.3950484786757551 1.0 0.7349368388600609 10 Q8ND04,Q7Z5J4,P98175,Q6ZRS2 4 |
| Cerebral white matter hypoplasia 0.5254841342739278 0.8468553073359264 0.3970757761710164 1.0 0.7368948780645399 6 Q9Y320,P11166 2 |
| Increased intramyocellular lipid droplets 0.4969105788957767 0.8465967838983358 0.397219907156265 1.0 0.7368948780645399 7 P53597,P31040,Q9Y4W6 3 |
| Abnormality of the ulna 0.3161182702186667 0.8455026703840663 0.3978302423481472 1.0 0.7374532300051454 33 Q9BXW9,Q15427,Q9UIG0,O75367,O96028,Q9UQE7,Q14683,Q6KC79 8 |
| Tremor by anatomical site 0.3258193207284047 0.8447278029798304 0.3982628324713348 1.0 0.7374532300051454 29 O00567,Q99720,Q96KR1 3 |
| Abnormality of corneal size 0.3036348672996575 0.8446003233774103 0.3983340284493399 1.0 0.7374532300051454 45 Q9Y4P3,Q9P273,Q7Z5J4,Q9ULC3,Q9UIG0,P32322,Q96J42,O96028,Q9UQE7,Q14683,Q5H8A4,Q6KC79 12 |
| Pancreatitis 0.351188321782971 0.8445269086490788 0.3983750332590778 1.0 0.7374532300051454 23 Q9NQH7,P02545 2 |
| Puberty and gonadal disorders 0.2379422379028747 0.8440514400122141 0.3986406614257749 1.0 0.7374532300051454 164 Q9ULC3,P48735,Q8WWQ0,O43395,Q01831,O76024,P02545,Q9Y6N7,O96028,Q9H936,Q96RR1,Q8WWY3,Q14669,Q7Z5J4,Q9Y4W2,O60216,Q9NW13,Q9UIG0,O00571,Q9Y2R9,O15078,Q04721,P55011,Q16740,Q9UQE7,O94906,Q8IY17,Q9BXW9,Q9UBM7,P17252,P46100,Q14683,P54098,Q6KC79,Q06787,Q5JRA6,P35240,Q15233,O43172,Q9UGU0,O43837,P51608,Q4J6C6,O75695,Q9NVI7,Q6ZRS2,Q96T58,Q6P2Q9,Q8N5K1,Q9H7N4,Q92560,Q9Y4P3,O14936 53 |
| Sleep wake cycle disturbance 0.5242962505499617 0.8414507859170666 0.4000954445513678 1.0 0.7383760933162097 6 Q9UBM7,Q14683 2 |
| Dry skin 0.3109729262830864 0.841061392521129 0.4003135421962682 1.0 0.7383760933162097 36 Q8ND04,Q01831,Q96T58,Q06136 4 |
| Open mouth 0.3155589607579586 0.8403921734752104 0.400688535927642 1.0 0.7383760933162097 33 P62266,Q7Z5J4,P61978,Q9UGU0,P46100,Q96ST3,Q96JM3,Q7Z3K3,P63000,Q15233 10 |
| Abnormal corneal epithelium morphology 0.3755808844907479 0.8395820899331219 0.4011427446482059 1.0 0.7383760933162097 18 Q01831,P02545 2 |
| Male hypogonadism 0.4762666725396918 0.8388328214085043 0.401563129873387 1.0 0.7384148499067867 8 P51608 1 |
| Abnormal clavicle morphology 0.3502995451827299 0.8376471181066828 0.4022289215925567 1.0 0.7384846264275602 23 Q14839,Q14739,Q15643,Q6ZRS2,Q96AY3,P02545 6 |
| Abnormality of upper limb epiphysis morphology 0.375179108758485 0.8367867509642072 0.4027124459777709 1.0 0.7384846264275602 18 Q9ULC3,O96028,Q15643 3 |
| Septo optic dysplasia 0.5807938133574178 0.836198558085574 0.4030432094655318 1.0 0.7384846264275602 4 Q8WWQ0 1 |
| Abnormal proximal phalanx morphology of the hand 0.5505028188543065 0.8360977364359082 0.4030999216962139 1.0 0.7384846264275602 5 Q9ULC3,Q14807 2 |
| Lacticaciduria 0.5504388364199482 0.8358221004481979 0.4032549914847017 1.0 0.7384846264275602 5 P00846 1 |
| Desquamation of skin soon after birth 0.5912876018329533 0.8356497411829076 0.4033519770768001 1.0 0.7384846264275602 3 Q6P1M0 1 |
| Abnormal motor nerve conduction velocity 0.3499845966933879 0.8352108322175175 0.4035990117703307 1.0 0.7384846264275602 23 O15121,Q9Y6X9,Q99720,P02545 4 |
| Absent hair 0.4166170344762849 0.8348884548714198 0.4037805157235281 1.0 0.7384846264275602 12 P14923,P62304,P02545,Q13428 4 |
| Abnormal heart valve morphology 0.2678710651941635 0.8341670177362817 0.4041868741577654 1.0 0.7384846264275602 80 P37268,Q12768,Q6ZXV5,P02545,P63000,O96028,Q7Z5J4,P24468,Q9UIG0,Q14697,Q9UQE7,Q9NX14,P55795,Q96PU5,Q9BXW9,P46100,P54098,Q06787,Q15233,P61978,Q9UER7,Q96T58,Q5H8A4,Q9Y4P3 24 |
| Abnormality of secondary sexual hair 0.4371412102609007 0.8341438687278576 0.4041999171753889 1.0 0.7384846264275602 10 Q02487 1 |
| Abnormal cardiac septum morphology 0.2413835309575284 0.831883976178921 0.4054744373219798 1.0 0.73978594086472 213 P31040,P62913,Q15427,Q12768,P20700,Q9ULC3,Q9BYW2,P53597,P61313,P02545,Q8NC56,P63000,Q8ND04,O96028,Q9H936,Q6NUK1,P49748,Q7Z5J4,O60216,P24468,O00459,Q9Y4A5,Q9UIG0,P51532,Q9UHB7,O95602,O14497,O15078,Q04721,P55011,Q8WYQ5,Q9UQE7,Q9NX14,P18583,Q13724,P55795,Q9BXW9,Q9UBM7,Q86W42,Q69YQ0,Q8NB90,P11274,O60341,O43678,Q14739,P46100,P17252,Q00839,Q8TAQ2,P19022,Q14683,Q6KC79,Q15233,O95299,Q14839,P61978,Q96GM5,P98175,Q6ZRS2,Q96T58,Q5H8A4,P22695,Q9Y4P3,Q68CP9,O14936 65 |
| Vertebral segmentation defect 0.3193560293222633 0.8303219576140107 0.4063567766968803 1.0 0.7404366563528135 30 Q9Y4P3,P61978,Q9UIG0,P46100,Q9UHB7,O96028,P18583 7 |
| Inflammatory abnormality of the eye 0.3026495716143155 0.8265498689821879 0.4084922414201106 1.0 0.7431528148960971 42 Q9NPE3,O60832,P04080,Q9Y6K9,O60216,P78536,P04439,Q14739,P50747,Q9NX24,Q01831,P06748,Q9UQE7,P29992,Q92560,Q14683,O60885,Q6KC79 18 |
| Intestinal pseudo obstruction 0.435543336667872 0.8252694911958125 0.4092186086293354 1.0 0.7436674451135951 10 P61978,Q96RR1,O60216,P54098 4 |
| Abnormality of reproductive system physiology 0.2489107705584554 0.8248961189180641 0.4094305699510911 1.0 0.7436674451135951 145 P20700,Q15031,Q9BYW2,Q8WWQ0,O43395,O76024,Q01831,P02545,Q9Y6N7,Q96RR1,Q8WWY3,Q5JTZ9,Q9Y4W2,O60216,Q9NW13,P49257,Q9UIG0,Q14697,Q9Y2R9,O15078,O94906,Q16740,Q9UQE7,Q8IY17,Q9BXW9,Q86W42,O75616,O60318,P17252,P46100,Q14980,O60934,Q14683,P54098,Q6KC79,Q06787,P40818,Q9UJA3,P35240,O43172,O43837,O75695,P51608,Q4J6C6,Q96T58,Q6P2Q9,Q8N5K1,Q9H7N4,Q6UN15,Q92560,Q9Y4P3 51 |
| Central hypoventilation 0.4923539999848031 0.8246533441065519 0.4095684268633834 1.0 0.7436674451135951 7 O43819,P51608 2 |
| Skin vesicle 0.4033696892214683 0.8225192713968972 0.4107814231970847 1.0 0.7449655235792921 13 Q02487 1 |
| Hammertoe 0.3727756902568219 0.8200891792047627 0.4121652703989282 1.0 0.7467311621082872 18 Q99720,Q9UBM7,Q9Y6X9 3 |
| Dental malocclusion 0.3479731567968168 0.8196723145244317 0.4124029368172883 1.0 0.7467311621082872 23 P61978,Q9UIG0,Q12959,Q12797,Q04721,P08754,Q9Y4P3 7 |
| Abnormality of the cheek 0.2879408059038302 0.818151796237634 0.4132705159025891 1.0 0.7474213724248474 66 Q15427,Q69YQ0,Q12768,P10412,Q9ULC3,P61978,Q13428,Q9UHB7,Q00839,O15078,Q04721,Q96J42,P02545,O96028,P08754,Q8N201,P18583 17 |
| Chronic noninfectious lymphadenopathy 0.5867720204887805 0.8175995809434785 0.4135858669069572 1.0 0.7475398005818761 3 P46100 1 |
| Submucous cleft soft palate 0.5761933158634426 0.8174692582068714 0.4136603104738321 1.0 0.7475398005818761 4 P18583,Q15233 2 |
| Supranuclear gaze palsy 0.3578437159613916 0.8166330784158041 0.4141381457119293 1.0 0.7481100516191199 20 Q99720,O00567,P30038,Q9NZJ7,Q96RR1,P54098,P02792 7 |
| Hemianopia 0.4525914578603973 0.8146958050158416 0.415246455204588 1.0 0.7492313731871432 9 Q9BVA1 1 |
| Abnormal breath sound 0.4335495311351811 0.81421242256602 0.4155232701052722 1.0 0.7494375098534057 10 Q9H0U9,Q14807,Q969Y2 3 |
| Increased endomysial connective tissue 0.5197622585438351 0.8138679962721209 0.4157205765409086 1.0 0.7495001399505627 2 O14908 1 |
| Abnormality of the calvaria 0.2427937930509969 0.8118252325455398 0.4168919212794622 1.0 0.7508763415062158 266 Q03164,P20700,P29372,Q01831,P32322,Q8NC56,P09651,O00459,Q9UHB7,O95831,Q04721,Q9UQE7,Q32P28,P62266,P42356,Q9UBM7,O60341,Q13428,Q6KC79,Q9UGU0,P61978,P98175,P51608,Q96T58,O60281,Q14692,Q03252,Q12768,P63000,Q8ND04,P55265,Q7Z5J4,Q15067,O00571,O15078,Q9H2P0,P11171,Q13724,Q15643,P46100,Q9ULH0,P19022,O75718,Q06787,Q9Y2U8,Q4J6C6,Q8N201,O14936,Q9ULC3,Q9BYW2,Q96F07,P02545,O14646,O96028,Q6NUK1,O14974,O60216,P24928,Q96AY3,Q8NI27,Q8IY17,Q96LT9,Q9H9Y6,Q69YQ0,Q14739,Q00839,Q14683,Q96GM5,Q5H8A4,Q68CP9,P22626,Q7Z3K3,P18583,Q9BXW9,Q15043,Q15233,Q14839,Q9NVI7 78 |
| Abnormal fear anxiety related behavior 0.2548971753696358 0.811684752956908 0.4169725453917381 1.0 0.7508763415062158 115 P31040,Q03164,Q9BYW2,Q8WWQ0,Q96RR1,Q14669,Q7Z5J4,O60216,P09651,Q9UIG0,P51649,P50336,Q92804,P55011,Q9H2P0,Q9UQE7,P36551,P55795,Q69YQ0,P19022,P11166,Q14683,P54098,Q06787,Q6KC79,P40818,Q15233,Q13148,Q9UGU0,P51608,P30038,P43243,Q6ZRS2,Q9Y4P3,Q68CP9 35 |
| Abnormal atrioventricular valve morphology 0.3103157747342907 0.8089256447931289 0.4185579169147093 1.0 0.7530641844328101 34 P55795,Q06787,Q12768,P24468,Q9UIG0,P02545,Q9NX14,Q9Y4P3,P54098,Q15233 10 |
| Kinetic tremor 0.3101618129831085 0.807510505010184 0.4193724246963244 1.0 0.7534321425760154 34 Q9NQH7,Q06787,P35251,P20700,O00567,Q8N2K0,Q8IY17,Q15233 8 |
| Neonatal alloimmune thrombocytopenia 0.5729915906676887 0.8044778499900176 0.4211210565532481 1.0 0.7556901793345558 4 P55265 1 |
| Delayed eruption of teeth 0.2995996262584189 0.8027659877466067 0.4221100044011014 1.0 0.7563963346401796 50 Q7Z5J4,Q96GM5,P51608,Q9BYW2,Q15643,P51532,Q8TAQ2,P02545,Q8NC56,Q9UQE7,Q14683,Q68CP9,Q6KC79 13 |
| Abnormal foramen magnum morphology 0.5725430258024738 0.8026606847687926 0.422170882652751 1.0 0.7563963346401796 4 Q9ULC3,P54886 2 |
| Ectopic kidney 0.383104710351093 0.8018537459752303 0.42263756467857 1.0 0.7569382957141445 16 Q9Y2U8,Q9BXW9,Q69YQ0,Q9UIG0,Q9Y4P3,Q6KC79 6 |
| Polycystic liver disease 0.572173191850297 0.801163017502929 0.4230372780004576 1.0 0.7573599423619845 4 Q9UGP8,Q14697 2 |
| Abnormality of hair pigmentation 0.3454711498495058 0.8003971150056436 0.4234807519913119 1.0 0.7574629850700089 23 P37268,Q9Y4I1,Q9UBM7,O60832 4 |
| Agenesis of corpus callosum 0.2643887165868688 0.8001671012346143 0.4236139880059126 1.0 0.7574629850700089 84 Q15058,P29372,P32322,O96028,O60508,P23786,P51532,O14497,P55011,Q9NX14,Q15022,Q69YQ0,Q9BXW9,P46100,Q00839,Q8TAQ2,Q9ULH0,Q9BVA1,Q14683,P61978,Q96GM5,Q96T58,Q5H8A4,Q68CP9 24 |
| Exertional dyspnea 0.3520524967452183 0.7976868346437829 0.42505224571284 1.0 0.7583168934737589 21 P11310,P24468,P02545,Q14980,Q96RR1,P54098 6 |
| Cervical spinal canal stenosis 0.5158989598811309 0.7965437566215481 0.4257160531828501 1.0 0.7585347393649489 2 Q8IWS0 1 |
| Protruding ear 0.2988742276425262 0.7964823496617828 0.4257517305068659 1.0 0.7585347393649489 45 Q9Y4P3,Q9BZI7,O14974,Q06787,P20700,P61978,Q9UIG0,P54886,P21333,P32322,Q8IY37,Q8N201,Q96PY6,Q9H2P0,P18583,O43505,Q06136 17 |
| Aortic aneurysm 0.2963714631696839 0.7947220600481048 0.4267751971294422 1.0 0.7593337162357116 56 Q9BYW2,Q6ZXV5,P02545,P55265,Q6NUK1,Q7Z5J4,Q14669,Q9UIG0,Q14697,Q9UHB7,P55011,Q96PU5,P11274,Q02809,Q06787,P61978,Q9UGU0,Q96T58,Q9Y4P3 19 |
| Finger clinodactyly 0.2598375968581413 0.7936662749456078 0.4273897385822387 1.0 0.759774234852014 93 Q03252,Q03164,Q9ULC3,P02545,Q7Z5J4,Q9UIG0,O75367,Q9UQE7,Q8IY17,Q9BXW9,Q69YQ0,O60341,P46100,Q14683,Q6KC79,Q15233,Q9Y2U8,Q9UGU0,P51608,Q6ZRS2,Q96T58,O60281,Q9Y4P3,Q8WVM7 24 |
| Kyphoscoliosis 0.2954763147572803 0.792426215591632 0.4281121985233169 1.0 0.7602454681018841 57 Q14807,P10412,Q9ULC3,Q9NW13,P51608,P46100,Q6ZRS2,Q96AY3,Q04721,P02545,P53007,P18583,Q68CP9,Q15233 14 |
| 11 pairs of ribs 0.4482651088403699 0.7919274103366649 0.4284030033492716 1.0 0.7604689431806476 9 Q14739,Q96T58 2 |
| Extramedullary hematopoiesis 0.5696614092574181 0.7910048287931658 0.4289411736697857 1.0 0.7611311819159784 4 Q14739 1 |
| Short philtrum 0.2825427131117389 0.7898349591645706 0.4296241597060071 1.0 0.7619888733039093 68 Q8WWQ0,O96028,Q7Z5J4,Q9Y4A5,Q7Z3K3,P55201,P18583,P55795,Q96N67,Q9ULH0,Q96JM3,Q14683,Q15233,Q6ZRS2,Q96T58,P11233,O60281,Q5H8A4,Q68CP9 19 |
| Proximal muscle weakness in lower limbs 0.3474255462567969 0.7884548177503758 0.4304307170819055 1.0 0.7623071862265018 22 P07196,Q9Y6X9,Q9BTV4,P50402,P02545,Q96RR1,P54098,P36551,Q8WXH0 9 |
| Supernumerary spleens 0.4189866914462217 0.787620174004971 0.4309189106926494 1.0 0.7627402716137757 11 Q9ULC3,Q96J42 2 |
| Abnormality of the synovia 0.2642627345980098 0.7873244819396759 0.4310919417161782 1.0 0.7627402716137757 81 Q14807,Q9UBM7,Q15427,Q9BXW9,Q14839,Q9ULC3,Q15643,Q96AY3,Q9UHB7,Q9NUQ7,P32322,P02545,P55011,O96028,P53007,Q14683,Q6KC79,Q9NQT5 18 |
| Hypocholesterolemia 0.4659873023770121 0.7871883507174126 0.4311716155803686 1.0 0.7627402716137757 8 P37268,Q9UBM7,Q9NVI7 3 |
| Laryngotracheomalacia 0.5379821882748768 0.7824460002699437 0.4339525087934848 1.0 0.7660635247733101 5 Q14807 1 |
| Hepatic cysts 0.5778834720570651 0.7822847066025044 0.4340472726047475 1.0 0.7660635247733101 3 Q9UGP8,Q14697 2 |
| Quadriceps muscle weakness 0.5373269357510561 0.7796551307435694 0.4355938959858902 1.0 0.7668973189789036 5 P54098 1 |
| Left ventricular hypertrophy 0.3352627852194278 0.7795017928820205 0.4356841818667567 1.0 0.7668973189789036 25 Q13724,P31040,P78536,O75787,Q969Y2,Q96RR1,P54098,Q8N1G0,Q15233 9 |
| Abnormality of long bone morphology 0.2332753449256768 0.7784733160926196 0.4362900315854829 1.0 0.767085066975239 180 P37268,Q15427,Q9ULC3,P48735,Q96J42,P02545,O96028,Q96HY6,Q14807,P09651,Q9UIG0,Q96AY3,Q9UHB7,O95831,Q9H2P0,Q9H490,Q15022,Q9UBM7,Q15643,P46100,Q6KC79,Q9Y2U8,Q9UGU0,Q9NUQ7,O60832 25 |
| Hyperthyroidism 0.4455375695407756 0.777619995379983 0.4367930696262199 1.0 0.767226668851318 9 P54098,Q06787 2 |
| Alopecia totalis 0.5368182596543583 0.7774898010203538 0.4368698494001539 1.0 0.767226668851318 5 P02545 1 |
| Zonular cataract 0.3907427097974495 0.7770406403067195 0.4371347934822929 1.0 0.7673730702099739 14 Q99797,Q92560,P08670,O76024,P29992,P11166,P02792,P35240 8 |
| Abnormal blood chloride concentration 0.5760998810939261 0.7752350407199889 0.4382007860325785 1.0 0.7683324065388246 3 Q9UNF1,Q13618 2 |
| Hiatus hernia 0.4450161937923328 0.7748894289172641 0.438404999141305 1.0 0.7683324065388246 9 Q6KC79 1 |
| Abnormal qt interval 0.4630467719979062 0.7725041198661912 0.4398159077496775 1.0 0.7687251635813678 8 P49748,P51608 2 |
| Metaphyseal striations 0.5351154637629376 0.7702493237634364 0.44115201064137 1.0 0.7692363003139528 5 Q14807 1 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.2411026084794321 0.7697112699003517 0.441471183389404 1.0 0.7692363003139528 249 P37268,P62913,Q15427,Q03164,Q12768,Q15058,Q9ULC3,Q8WWQ0,P61313,P51530,Q96J42,Q8NC56,Q8ND04,P02545,O96028,Q96HY6,Q14669,Q7Z5J4,Q9Y4W2,Q9Y4A5,Q9UIG0,Q9UHB7,O95602,O95831,Q04721,O15078,P55011,Q9UQE7,Q9NX14,P55795,Q96PU5,P42356,Q9UBM7,Q15022,Q69YQ0,Q9BXW9,Q14739,Q15643,O75787,P46100,Q13428,Q00839,P53007,Q14683,Q6KC79,Q9Y2U8,Q14839,Q9UGU0,Q9NVI7,P98175,P51608,Q6ZRS2,Q96T58,Q99567,Q8N201,O60281,Q5H8A4,Q9Y4P3,Q68CP9,Q8WVM7 60 |
| Short ribs 0.4055748420402766 0.7696128611273407 0.4415295736296238 1.0 0.7692363003139528 12 Q15643,Q15427,Q96HY6 3 |
| Progressive distal muscle weakness 0.5643321090838282 0.7695324286235015 0.4415773010455655 1.0 0.7692363003139528 4 Q7Z406,P55084 2 |
| Myopia 0.2516937563547289 0.7693507147302059 0.4416851381629139 1.0 0.7692363003139528 108 Q9Y4I1,Q9BYW2,P30533,Q7Z5J4,O60216,O43819,O43292,Q15067,Q9UIG0,P51532,Q96TA2,Q9UHB7,O14497,Q04721,Q7Z3K3,Q9UQE7,Q9NX14,P18583,Q86W42,O60568,P46100,Q02809,Q8TAQ2,Q14683,Q6KC79,Q15233,Q9UGU0,P61978,P98175,Q96GM5,O75695,O75530,Q9NVI7,Q9Y4P3,Q68CP9,O14936 36 |
| Anteriorly placed anus 0.4253333651135509 0.7688554680497945 0.4419791161360686 1.0 0.7694576002217811 10 P49748,Q9NX14,Q15022,Q14839 4 |
| Large earlobe 0.4621325074559141 0.7679473165749381 0.442518484884105 1.0 0.7701057815461397 8 Q96N67,Q96T58 2 |
| Obsessive compulsive behavior 0.2955827140041532 0.7662279225819988 0.4435406967624511 1.0 0.7712839523155043 44 Q9Y4P3,P55795,Q06787,O60216,Q9UGU0,Q9Y4A5,Q9UIG0,Q6ZRS2,Q96ST3,Q7Z3K3,Q9H2P0,Q9UQE7,Q14683,Q6KC79 14 |
| Dialeptic seizure 0.2936770750798876 0.7655794592370214 0.4439265703751538 1.0 0.7713914396643268 56 P00374,Q9BYW2,Q9H936,O43292,P51649,Q7Z3K3,Q8WVX9,P18583,Q96N67,Q8NB90,Q96JM3,P19022,P11166,P61978,Q9NVI7,Q4G176,P30038,P51608,O14936 19 |
| Thin skin 0.3208513737147223 0.763490450157879 0.4451709555245977 1.0 0.7732622852179335 28 Q01831,Q6ZXV5,Q96PU5,Q06787 4 |
| Open bite 0.3643223791619738 0.7617221378177571 0.4462258597957858 1.0 0.7744845933724261 18 Q7Z5J4,P61978,Q9UIG0,Q13428,Q04721,P08754,Q9Y4P3 7 |
| Highly arched eyebrow 0.2870253902535153 0.7614662208470648 0.4463786474166022 1.0 0.7744845933724261 63 Q96F07,P63000,O96028,Q14669,O60216,Q9Y4A5,Q9UHB7,O15078,Q8WVX9,P55011,Q9UQE7,P62266,Q69YQ0,Q8NB90,P11274,O60341,Q14683,Q6KC79,Q9UGU0,Q96T58,Q5H8A4 21 |
| Pain 0.232881746896544 0.7610329322072344 0.446637397403979 1.0 0.7746419872205956 182 P31040,Q03252,P20700,P11310,O15269,Q70HW3,P48735,Q01831,P22626,P50402,P51530,P02545,Q96RR1,P23786,Q96HY6,P49748,P09651,Q9UIG0,P50336,Q92804,Q14697,Q8NFH4,Q04721,Q8WVX9,P11171,P36551,Q8N1G0,P02792,P00846,Q14739,O75477,P46100,Q9NZJ7,P50995,P19022,Q14980,P54098,Q15043,Q06787,P35240,P40818,Q9Y2U8,Q13148,Q9UER7,P30038,P43243,P54886,Q9NUQ7,Q6UN15,Q8WXH0,Q92560,Q9Y4P3,O14936 53 |
| Basal cell carcinoma 0.4038765322362201 0.7596392084375816 0.4474702757250424 1.0 0.7757447732996223 12 Q01831,P02545 2 |
| Interrupted aortic arch 0.5718662460977018 0.7585537044904419 0.44811957551563 1.0 0.7760117353429173 3 P53597 1 |
| Erectile dysfunction 0.4234125954612421 0.7583043261006774 0.4482688180516678 1.0 0.7760117353429173 10 P35240,Q8WWQ0,Q06787 3 |
| Impotence 0.4234125954612421 0.7583043261006774 0.4482688180516678 1.0 0.7760117353429173 10 P35240,Q8WWQ0,Q06787 3 |
| Dilated third ventricle 0.5319283662660853 0.7567312625984446 0.4492108811648108 1.0 0.7767675026893389 5 O75787 1 |
| Broad foot 0.4596431058192637 0.7555617644130344 0.4499119877216846 1.0 0.7770307791312112 8 O95831 1 |
| Abnormal hair quantity 0.2390689686176128 0.7553210820867812 0.4500563521262051 1.0 0.7770307791312112 224 Q9NPE3,P14923,P31040,Q15427,Q03252,Q03164,Q7L2E3,Q9BYW2,Q8WWQ0,Q01831,P32322,P02545,Q92925,Q6NUK1,Q06136,Q7Z5J4,O60216,O43819,Q9NW13,P50336,P51532,Q9UHB7,P62304,O14497,O15078,Q04721,Q9H2P0,Q9UQE7,Q02487,Q8IY17,P36551,Q9H490,P09543,Q13724,P62266,P02792,Q15022,Q6P1M0,Q96N67,Q8NB90,O60341,O43678,Q13428,Q00839,Q9BRT2,Q8TAQ2,P19022,O60934,Q14683,Q6KC79,Q06787,P40818,Q9Y2U8,O95299,Q96GM5,Q6ZRS2,Q96T58,Q9H7N4,O60281,O60832,Q68CP9,Q8WVM7 62 |
| Posterior pituitary dysgenesis 0.5314894284167846 0.7548730486277466 0.4503251583519612 1.0 0.7770307791312112 5 Q9Y6N7,Q8WWQ0 2 |
| Fatigable weakness of respiratory muscles 0.3814739727858396 0.7532941469640705 0.4512731752253569 1.0 0.7770307791312112 15 P43243,P09651 2 |
| Skin ulcer 0.3075687982831145 0.7531514118719073 0.451358933002645 1.0 0.7770307791312112 32 Q14692,Q14739,P48735,P02545,O60832 5 |
| Iris hypopigmentation 0.4773748333724855 0.7531434827283295 0.4513636972431818 1.0 0.7770307791312112 7 Q96T58 1 |
| Abnormal sternum morphology 0.2513094824543617 0.7529473934483968 0.4514815269001087 1.0 0.7770307791312112 116 Q03164,Q9BYW2,P32322,P50402,P02545,O96028,Q9UIG0,Q96AY3,O95831,Q04721,P55011,Q9UQE7,Q9H490,P55795,P42356,Q69YQ0,Q14739,Q15643,P53007,Q14683,Q06787,Q6KC79,P61978,Q9NVI7,P98175,P51608,Q8N201,Q68CP9 28 |
| Abnormality of bladder morphology 0.4223641066348989 0.7525537997661794 0.4517180890652197 1.0 0.7770307791312112 10 Q9Y4P3,Q9UIG0,P23229 3 |
| Abnormal number of incisors 0.4590359249315042 0.7525458257145367 0.4517228824450425 1.0 0.7770307791312112 8 Q12959 1 |
| Abnormality of corneal thickness 0.3810528305015547 0.7506173395347981 0.4528829827539447 1.0 0.7787357517701176 15 O43172,O43837,O75695,O43395,Q02809,O15078,O94906,Q8WWY3 8 |
| Long philtrum 0.2495342529790908 0.749443164893169 0.4535901425637685 1.0 0.7796609087319064 131 Q9P273,Q03164,P20700,Q8WWQ0,Q8ND04,Q6NUK1,Q14669,Q7Z5J4,O14974,O60216,Q9UIG0,Q9Y3B2,Q9UHB7,Q96ST3,Q04721,Q8WVX9,P55011,Q9H2P0,Q9UQE7,P55201,Q15022,Q9UBM7,Q69YQ0,O60568,Q15643,Q15046,P19022,P11166,O75718,Q14683,Q6KC79,Q9UGU0,P51608,Q96T58,Q8N201,Q9Y4P3,O14936 37 |
| Cutis marmorata 0.3623191188709032 0.747981990063269 0.4544710208088438 1.0 0.7808838635589899 18 Q9UBM7,O60216,P55265,Q6KC79,O60885,Q9UQE7,Q14683,Q8WVM7,Q9Y3Z3 9 |
| Csf pleocytosis 0.5585939362041195 0.7465421505540071 0.4553399791999828 1.0 0.7815048842947275 4 P55265 1 |
| Abnormal location of ears 0.2399530466659681 0.7436085651094295 0.4571133199899586 1.0 0.7820510387911904 249 Q9P273,P37268,P62913,Q15427,Q8WVM7,Q03164,Q12768,Q15058,Q9ULC3,P32322,P61313,Q96J42,P63000,Q8ND04,P55265,Q92925,P02545,O96028,P23786,Q7Z5J4,O60783,Q9Y4A5,Q15067,Q9UIG0,Q9UHB7,O95831,Q04721,O15078,P55011,Q9H2P0,Q9UQE7,Q7Z3K3,Q8IY17,P18583,Q9H490,P62266,Q15022,Q9UBM7,Q69YQ0,Q9BXW9,Q14739,O75787,P46100,Q96JM3,Q8TD30,P53007,Q14683,Q6KC79,Q14839,Q9UGU0,P98175,P51608,Q6ZRS2,Q96T58,P11233,Q99567,Q8N201,O60281,Q5H8A4,Q9Y4P3,Q68CP9,Q7L2E3 62 |
| Premature loss of teeth 0.3904376565845655 0.7435154614064412 0.4571696642499177 1.0 0.7820510387911904 13 O60832,Q9NW13,P02545 3 |
| Arthralgia 0.3005216063101465 0.7433756921905954 0.4572542567480671 1.0 0.7820510387911904 36 Q9Y2U8,Q9UIG0,Q01831,Q9NUQ7,Q04721,P02545,Q9Y4P3,P02792,Q96HY6 9 |
| Entropion 0.4206306566143991 0.743060942937574 0.4574447845663054 1.0 0.7820510387911904 10 Q01831 1 |
| Flared iliac wing 0.4751973940809967 0.7428386496862158 0.457579372653595 1.0 0.7820510387911904 7 Q15643,O95831 2 |
| St segment elevation 0.5576064938985101 0.7426001500748449 0.4577237976437742 1.0 0.7820510387911904 4 Q99959 1 |
| Abnormal st segment 0.5576064938985101 0.7426001500748449 0.4577237976437742 1.0 0.7820510387911904 4 Q99959 1 |
| Decreased number of peripheral myelinated nerve fibers 0.3797408668950461 0.7422878240594266 0.4579129673771127 1.0 0.7820510387911904 15 O15269,P54098,P02545 3 |
| Ambiguous genitalia 0.3339183340089509 0.7393283901934488 0.4597076140186087 1.0 0.7841732009249016 24 Q96GM8,Q9UBM7,Q14839,Q9H0U9,P24468,P46100,Q8IY37,O15078,Q96J42,Q9NX14,O75845 11 |
| Dysmetria 0.2861650458931549 0.7389265110239804 0.4599516230943241 1.0 0.7841732009249016 62 Q9Y4P3,P35251,P42356,P20700,O00567,O43292,O15121,Q9UIG0,Q96TA2,O75787,Q8N2K0,Q5T8D3,Q9NPL8,P54098,Q06787 15 |
| Neoplasm of the nervous system 0.2930843646090497 0.7372505415926391 0.4609700029834847 1.0 0.7844487684584217 51 Q9BYW2,P46100,P51532,P48735,Q96T58,P02545,P35240 7 |
| Abnormality of malar bones 0.278110055450588 0.7364175073450232 0.4614766533732728 1.0 0.7849292024248942 68 Q14807,Q15427,Q9ULC3,Q14739,P51608,Q9BYW2,P46100,Q13428,P32322,O95831,Q7Z3K3,P02545,Q9H490,Q15233 14 |
| Waddling gait 0.3131839784001706 0.7362265185295126 0.4615928563500842 1.0 0.7849292024248942 29 Q9Y6X9,P09651,P22626,Q9NUQ7,P50402,P02545,Q5T8D3 7 |
| Scarring 0.3071477993953578 0.7359209991483063 0.461778776926478 1.0 0.7849558118108642 31 Q9Y2U8,O43172,P04439,O43837,O75695,P50336,O43395,Q02809,P21333,Q6P2Q9,O94906,P50213,Q8WWY3,P36551,P23229 15 |
| Dolichocephaly 0.3016835447846756 0.730142411478667 0.4653031394240252 1.0 0.7894911566966346 34 Q9BXW9,P42356,Q03164,Q9BYW2,P46100,Q04721,Q8N201,O96028,Q5H8A4 9 |
| Aplasia hypoplasia of the lungs 0.2980911871207889 0.7290037213252956 0.4659993861473133 1.0 0.7898004301982038 37 Q9UBM7,Q69YQ0,Q14739,P98175,Q15643,Q99567,P02545,O96028,Q5H8A4,P18583 10 |
| Congenital hepatic fibrosis 0.4990740766134824 0.7280515696226519 0.4665820187118388 1.0 0.790206872248926 6 Q8IY17,Q96J42 2 |
| Facial cleft 0.524427329971159 0.7250996575487968 0.4683908944910349 1.0 0.7929790758735479 5 Q13428 1 |
| Abnormal thoracic spine morphology 0.3239427200582629 0.7206561735551972 0.471121083296051 1.0 0.7958837913281043 26 O00459,Q14807,O95831,P02545 4 |
| Short palpebral fissure 0.319891808018608 0.7204864625982779 0.4712255317693292 1.0 0.7958837913281043 27 Q13724,P55795,Q9BXW9,Q86W42,Q03164,Q14839,P98175,O95602,P02545,Q6NUK1 10 |
| Agitation 0.2979889700363012 0.7199778631068736 0.4715386254080247 1.0 0.7958837913281043 36 P09651,P51608,P43243,Q92804,P35610 5 |
| Impaired tactile sensation 0.470330476366522 0.7198985244064576 0.4715874766196342 1.0 0.7958837913281043 7 Q9Y6X9 1 |
| Abnormality of the brainstem white matter 0.5518583085963847 0.7197399336932405 0.4716851340296961 1.0 0.7958837913281043 4 P20700 1 |
| Multiple joint contractures 0.3514833880865677 0.7194997455676961 0.4718330589370301 1.0 0.7958837913281043 19 P35251,Q9NW13,Q99567,P51530,P02545,Q15043 6 |
| Aplasia hypoplasia of the pubic bone 0.4967007374162168 0.7175348832838369 0.473044120333526 1.0 0.7976347456977158 6 O96028 1 |
| Vertebral clefting 0.4336979023138785 0.7159878276275276 0.4739988650626294 1.0 0.7985300544188009 9 Q9Y2W2,Q15643,O60216,O75845 4 |
| Abnormal delivery 0.3377371805097129 0.7158325652051081 0.4740947416364984 1.0 0.7985300544188009 22 Q9UBM7,P50454,Q02809,P02545,Q8NC56,O75718,P18583 7 |
| Facial diplegia 0.4059977790559483 0.7141186023086648 0.4751538439946547 1.0 0.7997295439267464 11 O43819,Q96RR1,P54098,Q96TA2 4 |
| Supraventricular tachycardia 0.5213878849866679 0.7123604931389796 0.4762415731224303 1.0 0.800975429439768 5 P02545 1 |
| Retinal pigment epithelial atrophy 0.5495093666369385 0.7104427825193623 0.4774296007966718 1.0 0.8026806928054913 4 P50213,O75643,P51648 3 |
| Abnormal tracheobronchial morphology 0.2860383653146275 0.706120837071727 0.4801129945906937 1.0 0.806513666947273 59 Q9NPE3,Q7Z5J4,Q14807,Q9BXW9,P55011,Q69YQ0,Q9UBM7,Q14739,Q9Y4A5,Q9UIG0,Q13428,Q9UHB7,P63000,O60832,Q9Y4P3,Q96HY6 16 |
| Tetraplegia 0.3841569994708389 0.7055904163880625 0.4804428858203553 1.0 0.8065701761223008 13 O95831,P51572 2 |
| Abnormal rib cage morphology 0.258667765566611 0.7052324104065261 0.4806656148030377 1.0 0.8066503400953782 78 Q9UBM7,Q15427,Q03164,Q96HY6,Q14739,Q15643,Q96T58,O95831,P02545,O96028,Q6KC79 11 |
| Gastric ulcer 0.5578568131487243 0.7039205728798822 0.4814822387636657 1.0 0.8076212333167774 3 Q8N5K1 1 |
| Abnormal circulating gonadotropin concentration 0.3680138850313483 0.7036088369794652 0.481676406541923 1.0 0.8076212333167774 16 Q06787,P35240,Q15031,Q8IY17,Q92560,Q9UJA3 6 |
| Narrow nose 0.4929342217970582 0.7009076118173776 0.4833606738213478 1.0 0.8086529837279902 6 Q9Y4A5,Q14683 2 |
| Absent or minimally ossified vertebral bodies 0.5469905794607641 0.7005032518291563 0.4836130750841798 1.0 0.8086529837279902 4 Q15643 1 |
| Increased urine alpha ketoglutarate concentration 0.5182434585825094 0.6992315306237045 0.4844073486729197 1.0 0.808991731722941 5 P09622,P30038 2 |
| Long fingers 0.2580848294345899 0.6989114430724168 0.4846073757473339 1.0 0.808991731722941 79 P23786,P55795,Q9Y4W2,Q03164,Q14839,Q9UGU0,P46100,Q8WWQ0,Q96T58,O96028,Q5H8A4,P18583,Q14683,Q06136 14 |
| Obstructive sleep apnea 0.3934409945392445 0.6988065856221041 0.4846729123298119 1.0 0.808991731722941 12 P08754,P51530,Q7Z3K3,P53007,Q15233 5 |
| Decreased head circumference 0.2179715028116615 0.6962342217752866 0.486282159397708 1.0 0.8111924716258772 470 P49411,Q03164,P20700,P00374,P53597,Q01831,P32322,Q8NC56,Q06136,Q9NQT5,Q14669,Q9Y4W2,O43772,Q99720,Q9UHB7,Q96F86,P82930,P55011,Q16740,Q9UQE7,Q9NX14,Q9NPL8,P62266,P55795,Q9UBM7,P42356,Q8NB90,Q5T440,Q8TAQ2,P16219,P11166,Q6KC79,Q9UGU0,O15121,P51608,P61978,Q96T58,Q9NUQ7,O60281,O60832,Q9Y4P3,Q9NPE3,Q15427,Q03252,Q6ZXV5,P61313,P51530,Q96J42,P63000,Q8ND04,P55265,P23786,P49748,Q7Z5J4,Q9Y320,Q9NW13,Q9Y4A5,P51532,O95602,O00571,O14497,O15078,Q9H2P0,P55201,P09622,P09543,Q86W42,P46100,Q9NZJ7,Q96JM3,Q15046,Q8TD30,O60934,Q9Y2U8,Q96N66,Q4G176,Q8TCJ2,P22695,O14936,P31040,P62913,Q15058,Q96F07,O96028,Q9H936,Q6NUK1,O14974,O60216,P24928,Q9UIG0,Q96ST3,Q8NFH4,Q8NI27,Q8WVX9,Q8WYQ5,Q5T8D3,Q96LT9,Q9Y6X9,P51572,Q00839,Q9BVA1,Q14683,P54098,Q96JX3,Q96GM5,Q5H8A4,Q68CP9,Q8WVM7,Q4G0N4,P35658,Q96TA2,Q9Y3B2,Q7Z3K3,Q9BXW9,P53007,Q15043,Q6PJT7,Q7L2E3 118 |
| Positive romberg sign 0.4293475440191724 0.6935579245608648 0.4879594880157571 1.0 0.8135599420443547 9 Q96RR1,P54098 2 |
| Increased sensitivity to ionizing radiation 0.5164955040679824 0.6919560950860342 0.4889649014680512 1.0 0.8146469807617335 5 P35240 1 |
| Abnormal aortic morphology 0.2467623888393657 0.6872847395878645 0.4919033134600892 1.0 0.8186549729426034 110 P62913,Q9BYW2,P53597,Q6ZXV5,P61313,P02545,P55265,Q14669,Q7Z5J4,P24468,O00459,Q9Y4A5,Q9UIG0,Q9UHB7,P55011,Q9NX14,Q96PU5,Q9UBM7,Q69YQ0,Q9BXW9,Q06787,Q9Y2U8,Q14839,Q9UGU0,P61978,Q6ZRS2,Q96T58,Q9Y4P3 28 |
| Persistence of primary teeth 0.4895984469065112 0.6862490095274155 0.4925560973227791 1.0 0.8194455462497338 6 Q9ULC3,P02545 2 |
| Fatigue 0.2562214290353637 0.6836318766636518 0.4942076505291255 1.0 0.8210080248429797 83 Q9Y6X9,P09651,P11310,Q14739,Q70HW3,P46100,P43243,Q92804,Q01831,Q14980,Q96RR1,P54098 12 |
| Abnormal muscle fiber protein expression 0.4623256865826519 0.6824688878390848 0.4949425092382686 1.0 0.8211441549387557 7 Q8WXH0,P50402,P02545 3 |
| Weakness of muscles of respiration 0.293880399965364 0.6822874910993475 0.495057181162055 1.0 0.8211441549387557 36 Q9Y6X9,P09651,P43243,P22626,P50402,O95831,P02545,P54098 8 |
| Infantile muscular hypotonia 0.2669658139028534 0.6820929056796325 0.4951802062320478 1.0 0.8211441549387557 72 P53597,P63000,P55265,Q7Z5J4,P49748,O43819,P51532,O14497,Q7Z3K3,Q9H2P0,P18583,Q13724,P00846,P42356,Q8NB90,P46100,Q8TAQ2,P16219,Q9BVA1,Q969Y2,Q14683,Q15043,Q96GM5,P51608,Q68CP9 25 |
| Acanthosis nigricans 0.3999900529183925 0.6805205344081134 0.4961749242437667 1.0 0.8222021569963209 11 Q9UHB7,Q92925,P02545 3 |
| Myopathy 0.2466491960527985 0.6798272568338584 0.4966138458534539 1.0 0.8226337870587217 101 Q03252,Q14126,P11310,P22626,P50402,P02545,Q96RR1,P23786,P42166,P42167,P09651,Q86U42,Q9UIG0,O14979,P00846,P16219,P53007,P54098,Q13126,Q96T58,Q8N5K1,Q9Y4P3 22 |
| Falls 0.426585243712447 0.6793828762068161 0.4968952969148315 1.0 0.8228043530091139 9 Q01082,O75787,P54886,Q8WVX9,Q5T8D3,O14647 6 |
| Aplasia hypoplasia of the palmar creases 0.5513043137417409 0.6786958432739725 0.4973306004801336 1.0 0.8228463731383517 3 Q99567 1 |
| Distal upper limb muscle weakness 0.4878263513212346 0.6784884643481194 0.4974620355113437 1.0 0.8228463731383517 6 Q14315,Q00796,Q9Y6X9 3 |
| Abnormal cerebral cortex morphology 0.2367089089096278 0.6781891471028854 0.4976517728920873 1.0 0.8228463731383517 240 P37268,Q15427,P49411,Q15058,Q9Y4I1,Q01831,Q6ZXV5,O60508,P23786,Q9Y320,O00459,Q9UIG0,P51532,Q96F86,P00846,Q96PU5,Q9UBM7,Q15022,Q69YQ0,Q8NB90,Q5T440,P46100,P51572,Q96JM3,Q9BVA1,Q14683,Q6KC79,Q06787,Q96N66,Q9UGU0,P51608,Q96T58,Q9NUQ7,O60832 34 |
| Absent eyebrow 0.487699723263701 0.6779346466720655 0.4978131311676492 1.0 0.8228463731383517 6 P02545 1 |
| Absent toe 0.3183843245914485 0.676496988889975 0.4987251571662523 1.0 0.8233824169289227 26 Q14669,Q15427,Q9UGU0,Q04721,P02545,O96028,Q5H8A4 7 |
| Thoracic aortic aneurysm 0.2939875305884333 0.6762973680895559 0.4988518634452237 1.0 0.8233824169289227 35 Q14669,Q9UGU0,Q9UIG0,Q96T58,Q9UHB7,P02545,P55011,Q9Y4P3,Q06787 9 |
| Squamous cell carcinoma 0.3633692985690777 0.6738009938061071 0.5004378429495215 1.0 0.8246609923205328 16 Q01831,P02545,O60832 3 |
| Abnormality of the bladder 0.2461785872904397 0.6730714899876472 0.5009018107023464 1.0 0.8246609923205328 123 P31040,P62913,Q12768,P20700,Q15058,Q9BYW2,P22626,Q96RR1,P23229,O60216,Q99720,P09651,Q9Y4A5,Q9UIG0,P50336,Q9UHB7,Q9H2P0,Q9UQE7,Q9Y6X9,P46100,Q9NZJ7,Q00839,O60934,P11166,Q14683,P54098,Q06787,Q6KC79,P35240,Q14839,P61978,P51608,Q8N5K1,Q9Y4P3 34 |
| Clonic seizure 0.4426590021422585 0.6720198279592448 0.5015710735413064 1.0 0.8246609923205328 8 Q4G176,Q9NZJ7,P09471,Q96T60,Q9H936,O14936 6 |
| Abnormal metatarsal morphology 0.3214382988432055 0.6710297253924193 0.5022015932430337 1.0 0.8250963851545695 25 Q9ULC3,O96028,Q9UBM7 3 |
| Bradykinesia 0.3134782545472254 0.6686116379426512 0.5037432467680292 1.0 0.8264257535945246 27 Q06787,P51608,Q96RR1,Q5JPH6,P54098,Q15043,P02792 7 |
| Amelogenesis imperfecta 0.5384326745961086 0.6669755306305437 0.5047877634573552 1.0 0.8268846001109966 4 Q92925 1 |
| Transposition of the great arteries 0.5104406788582824 0.6668862003119498 0.5048448261880791 1.0 0.8268846001109966 5 Q9ULC3 1 |
| Multiple rows of eyelashes 0.5481569560047457 0.6666607284741177 0.5049888689888877 1.0 0.8268846001109966 3 O60716,Q9Y2Z4 2 |
| Aplasia hypoplasia of the sternum 0.538242688204228 0.666235657022058 0.5052604849941944 1.0 0.8268846001109966 4 Q6KC79 1 |
| Hallux valgus 0.3621220165005163 0.6658358613662417 0.5055160202489473 1.0 0.8268846001109966 16 Q15427,Q9UIG0,Q15233 3 |
| Abnormal external genitalia 0.2332294961830434 0.6658092484715087 0.5055330326860823 1.0 0.8268846001109966 306 P29372,P53597,Q01831,P32322,Q06136,Q14669,Q9UBX3,Q9Y4W2,P24468,Q9UHB7,Q04721,P55011,Q9UQE7,Q9NX14,Q9UBM7,O60341,O75787,Q13428,Q9BRT2,Q8TAQ2,Q6KC79,Q9UGU0,P61978,P98175,P51608,Q96T58,Q99567,O60832,Q9Y4P3,Q9NPE3,Q03252,Q12768,Q8WWQ0,P61313,Q96J42,P63000,Q8ND04,P55265,Q8WWY3,Q9Y4A5,P51532,O14497,O15078,Q9H2P0,O94906,Q13724,Q96PU5,Q86W42,P46100,Q15046,P19022,Q06787,Q8TCJ2,Q9H7N4,O14936,P37268,P62913,Q9ULC3,Q9H0U9,Q9BYW2,P38159,P02545,O96028,Q9H936,Q6NUK1,P23229,O14974,O60216,Q9UIG0,Q96ST3,Q8NI27,Q8WYQ5,Q8IY17,Q9H9Y6,Q15022,Q69YQ0,Q14683,P54098,Q9UJA3,O43172,O43837,Q96GM5,O75695,O75530,P54886,Q07020,Q5H8A4,Q68CP9,Q8WVM7,O43395,Q9Y6N7,Q9BXW9,Q15233,Q14839,Q9NVI7,Q6ZRS2 96 |
| Constitutional symptom 0.2364580236626484 0.665646241342633 0.5056372424539912 1.0 0.8268846001109966 248 P14923,P31040,Q03252,Q12768,P20700,Q14126,P11310,O15269,Q70HW3,P48735,Q01831,P22626,P50402,P51530,P02545,Q8NC56,Q96RR1,P23786,Q96HY6,P49748,Q99720,P09651,O00567,Q9UIG0,Q92804,Q14697,Q04721,Q9H2P0,P35610,Q02487,P11171,Q8N1G0,P36551,Q99959,P00846,P02792,Q9Y6X9,Q14739,O75477,P46100,Q9NZJ7,P19022,Q14980,P11166,P54098,Q15043,Q06787,P35240,P40818,Q9Y2U8,Q13148,P51608,P30038,Q4G176,Q13228,Q4J6C6,P43243,Q9UER7,Q9NUQ7,Q9Y4P3,O14936 61 |
| Malignant neoplasm of the central nervous system 0.3240997065338739 0.6640440491618962 0.5066621186885718 1.0 0.8282667968632326 24 Q9BYW2,P48735,Q96T58 3 |
| Poor wound healing 0.4843668361917157 0.6633935691594108 0.5070785234887147 1.0 0.8283600259684533 6 P40818,O15269 2 |
| Abnormal myocardium morphology 0.2265027497241525 0.6615906558739681 0.5082335976146988 1.0 0.828993808328715 175 Q14126,Q9NYY8,P48735,P53597,P22626,P50402,P02545,P55265,Q96RR1,P23786,P49748,P42166,O43772,P42167,P09651,O43819,O60783,Q9UIG0,Q02487,Q9NX14,Q9NPL8,Q99959,P00846,Q9BXW9,O43678,P16219,Q969Y2,Q14683,P54098,Q15233,Q16836,Q7L590,O95299,Q9NVI7,Q96T58,Q8N5K1,Q9Y4P3 37 |
| Broad forehead 0.2855194309081373 0.6594581195091751 0.5096016311870177 1.0 0.8300664840737461 42 Q9Y4P3,Q7Z5J4,Q15022,Q86W42,Q12768,Q9UIG0,O75530,O14936,P32322,Q8NI27,Q04721,P19022,P55201,Q6NUK1,Q9H490 15 |
| Abnormality of the scrotum 0.2854455856752376 0.6576874981734502 0.5107389573350063 1.0 0.8311001035349026 48 Q14669,Q69YQ0,Q9UBM7,Q9UGU0,Q9H0U9,P46100,Q6ZRS2,Q13428,Q8TCJ2,Q8IY17 10 |
| Short nail 0.482833632346123 0.6567278494193588 0.5113559240023333 1.0 0.8312238397922272 6 Q04721,P02545 2 |
| Aplasia hypoplasia of the ear 0.2836082845856076 0.6530131747637002 0.5137477850013978 1.0 0.8328359829443088 55 Q9Y4W2,P62913,Q15427,P61978,P98175,P46100,Q13428,O95602,Q96T58,P61313,Q9H2P0,O96028,Q5H8A4 13 |
| Contractures of the joints of the lower limbs 0.2830847747553063 0.6527918432517419 0.513890482848105 1.0 0.8328359829443088 56 P37268,Q99720,Q9BYW2,O00459,O75477,Q96AY3,Q8N2K0,P02545,P23786 9 |
| Dysesthesia 0.4557659945212458 0.652102682805215 0.5143349335016154 1.0 0.8328359829443088 7 P30038,Q06787 2 |
| Mania 0.3700251133101007 0.6495326965686519 0.5159941196325721 1.0 0.8346431198267219 14 P51608,P54098 2 |
| Hypoplastic facial bones 0.3592883562523261 0.6478061021274271 0.5171103681420393 1.0 0.8355398045359692 16 Q15427,Q04721,Q9UIG0,Q13428 4 |
| Glucose intolerance 0.243124955278551 0.6475540123656283 0.5172734494892963 1.0 0.8355398045359692 104 Q9NPE3,Q03252,O75251,O43395,O76024,P02545,P63000,P55265,Q96RR1,Q8WWY3,Q06136,Q9UIG0,O94906,Q9NX14,Q8IY17,Q9NPL8,P00846,P17252,Q9NP81,P54098,Q06787,P40818,Q9Y2U8,Q5JRA6,O43172,O43837,O75695,Q6P2Q9,Q8N5K1,O60832,Q9Y4P3,Q9BU61 32 |
| Macrovesicular hepatic steatosis 0.4545161830828889 0.6463506999252225 0.5180522604417783 1.0 0.8363933823893498 7 P54098,P23786 2 |
| Chondrocalcinosis 0.5330624818972637 0.6461403995899162 0.5181884337865605 1.0 0.8363933823893498 4 P29992,P02545 2 |
| Hypodontia 0.2842568102988493 0.6458968175166784 0.518346180799647 1.0 0.8363933823893498 48 Q9NPE3,O96028,Q9Y2U8,Q9Y4P3,Q9NW13,Q9BYW2,Q9UIG0,P02545,Q8NC56,Q8ND04,O60832,Q5H8A4 12 |
| Glioma 0.3692593196094533 0.6448984716964107 0.5189929822000829 1.0 0.8371440335697629 14 Q9BYW2,P48735 2 |
| Toe syndactyly 0.276629565362729 0.644026921919152 0.5195579764337266 1.0 0.8376568266010909 63 P37268,Q14692,Q15427,Q96PU5,Q9UBM7,Q9ULC3,P51608,Q9BYW2,P11233,Q9H2P0,Q14683,Q6KC79 12 |
| Esophageal stenosis 0.4539689828071223 0.6438358516500508 0.5196818827904339 1.0 0.8376568266010909 7 Q9NPE3,O60832,P06748 3 |
| Duplication of hand bones 0.2776129011635219 0.6434788565380073 0.5199134298975843 1.0 0.8376568266010909 62 Q7Z5J4,Q9Y2U8,P62913,Q9BXW9,Q9UBM7,Q12768,Q9ULC3,Q14739,P98175,O00459,Q15067,P61313,Q96J42,O96028,Q8IY17,Q5H8A4 16 |
| Bilateral cleft lip 0.4808320950965841 0.6432872793535612 0.5200377088356447 1.0 0.8376568266010909 2 O60716 1 |
| Barrel shaped chest 0.5044317040837514 0.6422199176004791 0.5207304024293753 1.0 0.8381868558657194 5 Q14739,Q15643 2 |
| Stillbirth 0.3731900916046869 0.6402190669932396 0.5220301885446832 1.0 0.8397698591000821 13 Q15643,P02545 2 |
| Abnormal circulating dicarboxylic acid concentration 0.2822518857687581 0.639569571606165 0.5224524699803244 1.0 0.8397698591000821 43 P37268,Q16134,P22695,Q02241,Q9H9P8,Q14739,P11166,Q4G176,P48735,P53597,P51610,O75648,P11171,P36551,O14936,P23786 16 |
| Hyporeflexia 0.2439191567908219 0.6392295262451112 0.5226736267414664 1.0 0.8397698591000821 125 Q9H0U9,O15269,Q9NYY8,Q8N2K0,P02545,Q96RR1,P35251,Q99720,O14979,O95831,P35610,Q8IY17,P00846,Q9Y6X9,Q5T440,P54098,Q06787,O60832,Q5H8A4 19 |
| Short thumb 0.2844624244433523 0.6387138031340884 0.5230091315408818 1.0 0.8397698591000821 41 P62913,Q03252,P61313,O96028,O60885,O60216,P61353,Q96ST3,Q9UQE7,Q9BXW9,Q9UBM7,O60341,Q14683,Q6KC79,Q6ZRS2,Q07020,P21333,P46777,Q5H8A4 19 |
| Severe infection 0.4357706990313503 0.6386849534367882 0.5230279030397174 1.0 0.8397698591000821 8 P51608 1 |
| Impaired mastication 0.4528392702421716 0.638650738867281 0.5230501657234325 1.0 0.8397698591000821 7 Q9H2P0 1 |
| Increased megakaryocyte count 0.5407253269916658 0.6384648050809847 0.5231711573395739 1.0 0.8397698591000821 3 O75533,P04637 2 |
| Infection related seizure 0.3169178757538399 0.6361876686121144 0.5246541096006871 1.0 0.8415641771952567 25 P20700,Q96N66,P11310,P30038,Q7Z3K3,Q8TD30,Q9H936,P11166,O14936 9 |
| Abnormality of the uterus 0.2820834856788925 0.6329116684434315 0.5267913275440586 1.0 0.843519054119668 54 Q15427,Q15031,Q8WWQ0,O96028,Q96GM8,O14974,O60216,Q16740,Q9UQE7,Q9NX14,Q9BXW9,Q86W42,Q69YQ0,O75616,Q9UBM7,O14965,Q14683,Q6KC79,Q07812 19 |
| Cutaneous photosensitivity 0.3164432054854948 0.6325496705022272 0.5270277624943707 1.0 0.843519054119668 25 Q01831,Q06136 2 |
| Symptomatic seizures 0.4514692581764898 0.6323753008207674 0.5271416694458746 1.0 0.843519054119668 7 Q16836,Q7Z3K3 2 |
| Overriding aorta 0.3995944233564208 0.6295220910804793 0.5290073108305322 1.0 0.8449628508420947 10 Q9Y4P3,Q9NX14,Q9UIG0 3 |
| Streak ovary 0.4764857997002836 0.6292953818064 0.5291556942258411 1.0 0.8449628508420947 6 O14974,Q8IY37,O75616 3 |
| Abnormality of the septum pellucidum 0.2824837665890697 0.6283865099131233 0.5297507721201067 1.0 0.8452761971955388 48 Q9BVA1,Q69YQ0,Q96N66,Q9BYW2,Q6PJT7,Q8WWQ0,Q9NUQ7,Q96F86,Q9Y6N7,P55011,O96028,Q8ND04 12 |
| Hamartoma of the eye 0.4163273451414946 0.6272436357528106 0.5304995439419082 1.0 0.8459366646738834 9 P31040,Q02978,P40926,P36957,P35240 5 |
| Abnormality of the zygomatic bone 0.2524912185037757 0.6249178594810159 0.5320249701057254 1.0 0.8473157276220158 79 Q9Y4W2,Q15427,Q14807,Q9ULC3,Q14739,P51608,Q9BYW2,Q9UIG0,P46100,Q13428,P32322,O95831,Q7Z3K3,P02545,Q9H490,Q15233 16 |
| Leukodystrophy 0.2748619604039882 0.6244230246067933 0.5323498079704372 1.0 0.8473157276220158 63 P49411,O95299,P20700,O43819,O43678,Q15067,Q5T440,Q969Y2,Q9NZJ7,Q15046,P55265,Q9NX14,Q9NPL8,Q4G0N4 14 |
| Absent hand 0.536985286156007 0.6243986880318875 0.5323657864780895 1.0 0.8473157276220158 3 Q96HP0 1 |
| Abnormality of chromosome segregation 0.4753099652564971 0.6242442782003225 0.5324671720002125 1.0 0.8473157276220158 6 Q14739,P51608 2 |
| Abnormal peripheral nervous system physiology 0.2816225983451234 0.6222625912566715 0.5337692150388738 1.0 0.8490945760280221 52 Q9Y6X9,Q99720,O15121,P43243,Q8N2K0,O95831,P02545,P54098 8 |
| Cerebral edema 0.4151960999743155 0.6215456090598969 0.5342406953246357 1.0 0.8494356603424269 9 P11310 1 |
| Breast carcinoma 0.3306833123612843 0.6213761649769891 0.5343521507577089 1.0 0.8494356603424269 20 P48735 1 |
| Aplasia involving bones of the extremities 0.5355756672453544 0.6191196017095499 0.5358375710779939 1.0 0.8504018093749499 3 P02545 1 |
| Abnormal emotion affect behavior 0.2340413980882841 0.6185596715247131 0.53620647620308 1.0 0.8506234877137643 241 P37268,P31040,Q03164,Q9BYW2,Q8WWQ0,P53597,Q8ND04,P55265,Q9H936,Q14669,Q7Z5J4,Q9Y4W2,O43772,P09651,Q15067,P51649,P51532,P50747,Q92804,Q96ST3,O00571,O14497,O95831,Q8NFH4,Q8NI27,Q9H2P0,Q8WYQ5,P35610,Q7Z3K3,P02792,P09543,P00846,P55795,Q9UBM7,P29218,Q8NB90,Q5T440,O43678,P46100,P17252,Q9NZJ7,P34897,Q9BRT2,Q8TAQ2,P51572,Q96JM3,P19022,P53007,P11166,Q14683,P54098,Q6KC79,Q06787,P40818,P35240,Q15233,O95299,Q13148,Q9UGU0,Q96GM5,P51608,P30038,P43243,Q6ZRS2,Q96T58,Q68CP9,O14936 67 |
| Shoulder girdle muscle weakness 0.3788821944591954 0.615480522787048 0.5382374282616298 1.0 0.8532580963844956 12 O14979,P54098,P43243 3 |
| Holoprosencephaly 0.3688969146755241 0.6149648128240619 0.5385779584209152 1.0 0.853504430498597 13 Q9UBM7,Q96J42 2 |
| Simplified gyral pattern 0.2984865566240048 0.6132135535752397 0.5397351440845686 1.0 0.8541637535976179 29 Q03252,Q15058,P20700,Q96GM5,P51532,Q8TAQ2,O14497,Q68CP9,P18583,O60508 10 |
| Cutaneous syndactyly 0.3960912141348819 0.6109612579758514 0.5412252288106982 1.0 0.8543408915033364 10 P51608 1 |
| Lipodystrophy 0.2851474963830773 0.6102910555603321 0.5416690209346178 1.0 0.8545839105094414 37 P40818,P31040,P42166,Q03252,P42167,Q14126,Q9NW13,Q9Y487,P50402,P02545,P55265,Q8WXH0,Q6NUK1,Q9BTV4,Q9Y3Z3 15 |
| Abnormal social behavior 0.2641926171379181 0.6077080818637517 0.5433811018938965 1.0 0.8564952081115388 70 Q96N67,Q8NB90,P51608,Q9BYW2,Q9UIG0,Q96T58,Q14683,Q9H2P0,P53007,Q96RR1,P11166,Q9NPL8,O60508,Q06787 14 |
| Abnormal morphology of the abdominal musculature 0.4124224932879969 0.6076219000966759 0.5434382724443152 1.0 0.8564952081115388 9 P09651 1 |
| Cytochrome c oxidase negative muscle fibers 0.4292052590297561 0.6072534055316667 0.5436827550967767 1.0 0.8564952081115388 8 P54098 1 |
| Abnormal fingernail morphology 0.2786453748339331 0.6065214566293062 0.5441685386506316 1.0 0.8564952081115388 56 Q9NPE3,Q15022,Q12768,Q14739,Q96GM5,Q9UIG0,P51532,Q9UHB7,O75367,Q8TAQ2,Q04721,P02545,O60832,Q9Y4P3,Q68CP9 15 |
| Abnormal umbilicus morphology 0.2742252986895238 0.6063670071801298 0.5442710720093482 1.0 0.8564952081115388 62 Q9ULC3,Q9BYW2,P09471,P02545,P63000,Q9H936,Q6NUK1,Q9Y4A5,Q9UIG0,Q04721,Q8WYQ5,Q9H2P0,Q9NRZ9,Q9BXW9,Q69YQ0,Q15022,Q14739,Q15643,P46100,Q02809,Q6KC79,O75530,P54886,Q6ZRS2,Q9Y4P3,O14936 26 |
| Recurrent hand flapping 0.5318210216286539 0.6051199610153596 0.5450992921486175 1.0 0.8573550790873854 3 Q06787 1 |
| External ophthalmoplegia 0.3283132749534902 0.6048062485978648 0.5453077413064258 1.0 0.8573904118085345 20 Q96RR1,P54098,P51530,P16219 4 |
| Limb girdle muscle weakness 0.3051348568503935 0.60222699199201 0.5470230508149696 1.0 0.8580899094171575 27 Q9Y6X9,Q13126,P43243,O14979,P51530,P02545,P53007,Q96RR1,P54098 9 |
| Cupped ear 0.3667125117519407 0.6021956206685966 0.547043930436296 1.0 0.8580899094171575 13 Q9UHB7 1 |
| Abnormal foot bone ossification 0.5215824263831763 0.602178111117591 0.5470555843334113 1.0 0.8580899094171575 4 Q15643 1 |
| Abnormality of lower limb epiphysis morphology 0.3518878181752245 0.6011831766273036 0.5477179883842971 1.0 0.8584655681417418 16 Q9NUQ7,Q14807,O95831 3 |
| Keratitis 0.3665039452463948 0.60097936345359 0.5478537313390466 1.0 0.8584655681417418 13 Q01831 1 |
| Thick lower lip vermilion 0.2788814183616396 0.5995635232759683 0.5487971631502657 1.0 0.8596516894742524 45 P62266,Q96GM5,P51608,Q9UIG0,P46100,P51532,Q8TAQ2,P38159,Q9H2P0,P11166,Q9Y4P3,Q68CP9 12 |
| Small face 0.280780530316442 0.5948046233963193 0.5519740767372028 1.0 0.8639662137130086 40 Q9UGU0,Q9BYW2,Q15643,Q13428,P02545,Q06787 6 |
| Glaucoma 0.2486271941108733 0.5919795068767649 0.5538643113781647 1.0 0.865258786219319 86 P62913,Q12768,O43395,O76024,P32322,P61313,P55265,P50213,Q8WWY3,O43505,O60885,Q06136,O60216,Q9UIG0,P61353,P62847,O94906,Q9UQE7,Q9NX14,O96011,Q9UBM7,Q02809,Q14683,Q6KC79,Q9Y3Z3,Q13868,O43172,O43837,O75695,Q07020,P21333,P46777,Q6P2Q9,Q8N5K1,Q8NI36,Q9Y4P3 36 |
| Nasolacrimal duct obstruction 0.4677381361626798 0.5919587095977706 0.5538782382067702 1.0 0.865258786219319 6 Q9UQE7,Q13428 2 |
| Shawl scrotum 0.467461307121032 0.5907865330367618 0.5546634593817155 1.0 0.8658985938874731 6 P46100 1 |
| Absent facial hair 0.39213980290117 0.5901640692972749 0.555080658442971 1.0 0.8661252257599287 10 P14923,P02545,Q13428 3 |
| Nuclear cataract 0.4672776812202573 0.5900093352658038 0.5551843909155292 1.0 0.8661252257599287 6 O76024,P02792,P08670 3 |
| Abnormal vertebral morphology 0.2405050537396996 0.5865546193854204 0.5575028683668268 1.0 0.8688601160145611 112 P26373,Q15427,Q12768,Q9BYW2,P48735,P32322,O96028,Q6NUK1,Q96HY6,Q7Z5J4,Q14807,O60216,Q9UIG0,Q96AY3,Q9UHB7,O95831,Q04721,P18583,Q32P28,Q9UBM7,O60568,Q14739,O60341,Q15643,P46100,Q02809,O75718,P40818,Q5JRA6,P61978,Q9NUQ7,Q5H8A4,Q9Y4P3 33 |
| Abnormal cerebellar vermis morphology 0.2490328526608483 0.5849198928040149 0.5586015819982224 1.0 0.8699842206120963 82 Q12768,Q9Y4I1,Q9BYW2,Q96J42,P63000,Q6NUK1,P23786,O00567,Q9Y4A5,P51532,O14497,O15078,Q8NFH4,Q8NI27,Q9H490,P42356,Q9UBM7,Q69YQ0,Q8TAQ2,Q96GM5,P98175,Q99567,Q8N201,P07942,Q15334,Q68CP9 26 |
| Generalized clonic seizure 0.4407431251647474 0.5837490054896339 0.5593891914632321 1.0 0.8709166405422154 7 Q4G176,Q9NZJ7,P09471,Q9H936,O14936 5 |
| Preaxial polydactyly 0.331585291472797 0.5828307440074645 0.5600072463544221 1.0 0.8712903832918955 19 Q9ULC3,O96028,Q5H8A4,Q96J42 4 |
| Episodic pain 0.3729430159747833 0.5821063497200452 0.5604950483949496 1.0 0.8715817080941229 12 Q9UER7,P46100,P23786 3 |
| Aspiration pneumonia 0.3062245716174878 0.5817697109110489 0.5607218086424357 1.0 0.8715817080941229 26 P20700,Q96GM5,P51532,Q9UHB7,Q8TAQ2,Q68CP9,Q14683,Q4G0N4 8 |
| Abnormal dermoepidermal junction morphology 0.5161604875441166 0.5817105259187274 0.5607616803052426 1.0 0.8715817080941229 4 P14923 1 |
| Gonadal neoplasm 0.3127587710976404 0.5790287008045075 0.5625698074448384 1.0 0.8738028343398602 24 Q9BYW2,P48735 2 |
| Mask like facies 0.3625055280326608 0.5777653515492355 0.5634225508226667 1.0 0.8743638415182828 13 Q86U42,P54098,Q06787 3 |
| Esophageal stricture 0.4883353356820199 0.5773152242890028 0.5637265310303388 1.0 0.8743638415182828 5 O60832 1 |
| Cystic hygroma 0.4062438547944816 0.576855770766267 0.5640368909313156 1.0 0.8743638415182828 9 P61978,Q14739,Q15643 3 |
| Localized skin lesion 0.2307769001804351 0.57674578808675 0.5641111962083023 1.0 0.8743638415182828 224 Q9NPE3,Q14692,Q15427,Q03164,Q12768,Q9ULC3,O15269,P48735,Q8WWQ0,O43395,Q01831,Q6ZXV5,P32322,P02545,O96028,P55265,Q8WWY3,Q6NUK1,Q06136,P23229,Q14669,P10412,Q9NW13,Q9UIG0,P50336,Q96AY3,Q96ST3,Q04721,P55011,O94906,Q9UQE7,Q02487,Q9NX14,P08754,P36551,Q9H9Y6,Q96PU5,Q15022,Q69YQ0,Q9BXW9,Q99828,Q14739,P17252,Q13428,Q9NZJ7,Q02809,Q00839,O60934,Q06787,P35240,P40818,Q9Y2U8,Q15233,O43172,Q9UGU0,P61978,O43837,O75695,Q13126,O75530,P54886,Q96T58,Q6P2Q9,Q15334,Q5H8A4,O60832,Q9Y4P3 67 |
| Lipid accumulation in hepatocytes 0.2599596336511049 0.5765408632705732 0.5642496578102834 1.0 0.8743638415182828 71 Q16836,P49748,Q03252,O43772,P09651,Q9BW92,P11310,O75787,Q96T58,P53597,P22626,Q9Y2R9,Q16822,P02545,P16219,Q5JPH6,P54098,P23786 18 |
| Ventricular hypertrophy 0.2787882826747331 0.5765193770710151 0.5642641763437828 1.0 0.8743638415182828 40 Q13724,P31040,O43772,P78536,Q15233,O75787,Q969Y2,P02545,Q96RR1,P54098,Q8N1G0,P23786 12 |
| Missing ribs 0.3718684236702497 0.5761108801161037 0.5645402378084363 1.0 0.8743638415182828 12 Q14739,Q6ZRS2,Q96T58 3 |
| Chorea 0.2446593965028744 0.5759662489716678 0.5646379948372946 1.0 0.8743638415182828 93 P00846,Q9BWD1,Q99720,Q7L2E3,Q96N66,O43819,P51608,Q6PJT7,P53597,Q9NUQ7,Q96JM3,Q96F86,P82930,P11166,P54098,Q4G0N4,P02792 17 |
| Cranial asymmetry 0.4638678891230938 0.575625747410436 0.5648681739689454 1.0 0.8744265554052513 6 O96028 1 |
| Flushing 0.4057342332612702 0.5743343244352622 0.5657415861179107 1.0 0.8747078712772431 9 Q02978,P31040,Q9BYW2,P40926 4 |
| Lacrimation abnormality 0.3362751467037344 0.5735553134937529 0.5662687583936967 1.0 0.875006686874834 18 Q9UIG0,P55011,O60832,Q9Y4P3,Q15043 5 |
| Spastic dysarthria 0.4220443712019269 0.5733883616835189 0.5663817686842743 1.0 0.875006686874834 8 O94905,Q9Y4W6,P54886,Q8WVX9 4 |
| Abnormality of the knee 0.2452972978529076 0.5717809124703217 0.5674704101690398 1.0 0.8758229535027119 91 P37268,Q96PU5,Q96HY6,Q14807,Q9ULC3,O00459,Q15643,P46100,Q9UIG0,Q96AY3,Q9NUQ7,Q6ZXV5,O95831,P23786 14 |
| Sleep disturbance 0.2293420822754066 0.5704157193965247 0.5683957703952258 1.0 0.8760073267061744 156 Q9H0U9,P53597,P51530,Q96RR1,Q4G0N4,Q14669,Q7Z5J4,Q9UIG0,Q9UHB7,O95831,Q96F86,Q7Z3K3,P55011,Q9H2P0,Q9UQE7,P35610,P08754,P02792,Q9UBM7,Q8TAQ2,Q96JM3,P53007,P11166,Q14683,Q6KC79,Q06787,P35240,Q15233,Q96N66,Q9UGU0,P61978,P51608,P30038,Q9NVI7,Q6PJT7,Q9NUQ7,Q99567,Q8N5K1,Q9Y4P3,Q7L2E3 40 |
| Abnormal synaptic transmission at the neuromuscular junction 0.2890822985200906 0.570392762522835 0.5684113372747077 1.0 0.8760073267061744 30 Q92804,P11310,P43243,P09651 4 |
| Hypergonadotropic hypogonadism 0.3356290743696646 0.5693483992801435 0.5691197274370916 1.0 0.8760073267061744 18 Q16740,Q96RR1,P54098,P02545 4 |
| Large beaked nose 0.4621689747259973 0.56849414646381 0.5696994792523677 1.0 0.8764875059801587 6 P55265,Q12797 2 |
| Severe cytomegalovirus infection 0.5124268140015719 0.5677340444786727 0.5702155709372423 1.0 0.8764875059801587 4 Q7L590 1 |
| Bimanual synkinesia 0.5216003651158585 0.5674885186171248 0.5703823249328581 1.0 0.8764875059801587 3 Q8WWQ0 1 |
| Decreased number of large peripheral myelinated nerve fibers 0.4855373720374865 0.5662233527120787 0.5712419568712197 1.0 0.8775159684026401 5 P54098 1 |
| Difficulty walking 0.2476780152363764 0.5625859345772862 0.5737168719829606 1.0 0.8801446854713639 79 P00846,Q99720,Q9Y6X9,O00567,O43292,P51608,Q5T440,O75477,P43243,Q8N201,Q8TD30 11 |
| Abnormality of the cerebral subcortex 0.2042424911408528 0.5603686014849487 0.5752280436823685 1.0 0.8815828727977788 399 Q03164,P20700,P29372,P53597,P32322,Q8NC56,Q14669,Q9UBX3,O43819,O00459,O95831,Q96F86,P55011,Q9NX14,P00846,Q9UBM7,Q8NB90,O60341,Q5T440,O43678,O75787,Q8TAQ2,P16219,P11166,O95299,Q9UGU0,O15121,P61978,P98175,Q96T58,Q9NUQ7,Q9NYY8,Q6ZXV5,Q96KR1,Q96J42,P63000,Q8ND04,P55265,O60508,Q5JTZ9,P23786,Q7Z5J4,Q9BW92,Q9H9P8,Q9Y320,Q9Y4A5,Q15067,P51532,O00571,O14497,O15078,Q9H2P0,P09543,Q13724,Q96PU5,Q86W42,P46100,Q9NZJ7,Q9ULH0,Q96JM3,Q15046,Q8TD30,Q96N66,P37268,Q15058,Q9ULC3,Q9BYW2,O96028,Q9H490,Q15022,Q69YQ0,Q9Y6X9,P51572,Q00839,Q9BVA1,Q969Y2,Q14683,P54098,Q96GM5,Q5H8A4,Q68CP9,Q96RR1,Q4G0N4,Q9Y3B2,Q7Z3K3,P18583,P02792,Q9BXW9,Q96N67,Q15043,Q15233,Q9NVI7,Q6PJT7,P07942,Q5JPH6 95 |
| Iron deficiency anemia 0.4600009354033749 0.5594279789386527 0.575869670923453 1.0 0.8821550988365878 6 P46100 1 |
| Renal hypoplasia 0.2822879038584117 0.5585421479108795 0.5764742319950003 1.0 0.882438071253622 34 Q9Y2U8,Q9UBM7,Q15058,P46100,Q6KC79 5 |
| Decreased circulating cortisol level 0.4024280355008851 0.5580390274496236 0.5768177343875935 1.0 0.882438071253622 9 Q92560,P35240 2 |
| Enlarged cisterna magna 0.3395076516361693 0.5576407686058473 0.5770897115557103 1.0 0.882438071253622 17 P49748,P63000,P24928,Q9BYW2,Q7Z3K3,Q8WVX9,P19022,Q9NPL8,Q9H490 9 |
| Polyhydramnios 0.2753281618093059 0.5575876616418971 0.5771259836940716 1.0 0.882438071253622 50 Q13724,P62913,Q9UBM7,Q6P1M0,Q14739,Q9NVI7,Q5T440,Q70HW3,Q15643,Q9ULH0,Q99567,P02545,P53007,P23229 14 |
| Abnormality of female external genitalia 0.2798855973998366 0.5568761810148596 0.577612029618702 1.0 0.8828884139728833 36 Q96GM8,O14974,O60216,Q69YQ0,Q9UBM7,Q9NP72,P53701,Q96T58,Q8IY37,O96011,P02545,Q14683,Q9UQE7,Q9NX14,Q6NUK1,O95155,O60885,Q6KC79 18 |
| Abnormal circulating dehydroepiandrosterone concentration 0.4597325408618146 0.5555020036246935 0.578551340037643 1.0 0.8828991306529552 2 P04637 1 |
| Decreased circulating aldosterone level 0.4597325408618145 0.5555020036246923 0.5785513400376439 1.0 0.8828991306529552 2 Q9NRG9 1 |
| Abnormality of the optic nerve 0.2316070334057888 0.5552556564718174 0.5787198049604494 1.0 0.8828991306529552 266 P37268,Q12768,Q15058,Q9ULC3,Q9Y4I1,Q8WWQ0,O43395,Q01831,Q6ZXV5,Q8N2K0,Q96J42,Q9Y6N7,Q8ND04,P55265,O96028,Q96RR1,Q8WWY3,Q14669,P35251,O43819,O43292,Q9H9P8,Q15067,Q96TA2,Q9UHB7,O95831,O15078,P82930,P55011,O94906,Q7Z3K3,Q9NX14,Q8IY17,Q9NPL8,P18583,Q9H490,P00846,Q13724,Q96PU5,Q9UBM7,Q5T440,O43678,P46100,P51572,Q9NZJ7,Q00839,P16219,P54098,Q15043,Q6KC79,P35240,Q96JX3,O95299,P04439,Q9UGU0,P61978,P98175,Q9NVI7,Q96T58,Q8TCJ2,Q8N5K1,P07942,O60832,Q5H8A4 64 |
| Anarthria 0.4343017031533706 0.5550131574408487 0.5788856608465269 1.0 0.8828991306529552 7 Q99720,Q8WVX9,P02792 3 |
| Hyperkeratosis 0.2694588115260748 0.554927238044774 0.5789444303039728 1.0 0.8828991306529552 62 Q9Y2U8,P42167,O15269,O15446,Q01831,P02545,O60832,Q02487,Q06136 9 |
| Hypermetropia 0.2742052747922933 0.553031387193696 0.580241917852947 1.0 0.8839772773635445 54 Q9Y4P3,Q9BYW2,Q8WWQ0,Q6NUK1,Q7Z5J4,O14974,Q9UIG0,Q96TA2,Q96ST3,Q7Z3K3,Q9H2P0,P18583,Q9H490,Q02809,Q9ULH0,Q96JM3,P61978,Q6ZRS2,Q96T58,Q5H8A4 20 |
| Oral cleft 0.2202406250507548 0.550359246953079 0.5820729948532799 1.0 0.885428394934443 168 P14923,Q8WVM7,P62913,Q15427,Q12768,Q15058,Q8WWQ0,P29372,P53597,P61313,Q96J42,P02545,O96028,Q9H936,Q7Z5J4,O60216,P24928,Q9Y4A5,O95602,O00571,O15078,Q04721,Q8WYQ5,Q9UQE7,P08754,Q5T8D3,Q9H9Y6,P18583,P62266,Q96PU5,Q9UBM7,Q69YQ0,Q9BXW9,P11274,Q14739,Q13428,Q12959,O60934,Q14683,Q6KC79,Q15233,P61978,Q96GM5,P98175,Q5JPH6,Q99567,Q8N201,Q5H8A4,Q68CP9,O14936 50 |
| Ventricular preexcitation 0.4170308524513209 0.5499599676890164 0.5823468315490741 1.0 0.885428394934443 8 P00846,Q969Y2 2 |
| Reduced subcutaneous adipose tissue 0.4005917785165251 0.5490368189737358 0.5829801825191603 1.0 0.8859421334743564 9 Q9NW13,P02545,Q8NC56 3 |
| Abnormal brain lactate level by mrs 0.384053554678073 0.5480991294129596 0.5836238383416765 1.0 0.8859421334743564 10 O43819,P53597,Q15046 3 |
| Severe muscular hypotonia 0.2825237156412569 0.5480674213578133 0.5836456094059914 1.0 0.8859421334743564 33 Q5T440,Q96JM3,O95831,P02545,Q8TD30,Q5H8A4 6 |
| Tremor 0.2211800647266882 0.5446916784242561 0.5859655891081639 1.0 0.8878861768295728 177 Q9NQH7,Q9Y4I1,Q9BYW2,Q8WWQ0,Q8N2K0,Q96KR1,Q99720,O00567,O43292,Q9UIG0,O95831,Q5T8D3,Q8IY17,P00846,Q9Y6X9,Q8TD30,P11166,Q14683,Q06787,Q9Y2U8,P51608,Q96T58 22 |
| Joint dislocation 0.244654615670407 0.5430247332247221 0.5871127733118566 1.0 0.8878861768295728 87 Q96PU5,Q9UBM7,Q15427,Q14807,Q9BXW9,Q9UIG0,Q6ZRS2,Q6ZXV5,P32322,O75367,Q04721,P02545,P55011,O96028,P53007,Q14683,Q6KC79,Q9NQT5 18 |
| Kyphosis 0.2314381353730335 0.5428934162365138 0.5872031892470431 1.0 0.8878861768295728 149 Q12768,Q9ULC3,Q9BYW2,P50402,P02545,O96028,Q14669,Q14807,P10412,Q9NW13,O00459,Q9UIG0,Q96AY3,O95831,Q04721,P82930,P55011,P18583,Q32P28,Q9UBM7,Q14739,P46100,P53007,Q14683,Q15233,Q9UGU0,P51608,Q6ZRS2,Q96T58,Q9NUQ7,Q99567,Q5H8A4,Q9Y4P3,Q68CP9 34 |
| Meningioma 0.41519486774973 0.5414418617436774 0.5882030600125872 1.0 0.8881095196919636 8 P02545 1 |
| Bilateral tonic clonic seizure 0.2416357191341536 0.5411433019662266 0.5884088137465384 1.0 0.8881095196919636 94 P00846,P49748,Q8NB90,O43292,P51608,P11310,Q9Y320,Q9BYW2,Q14739,P54098,Q00839,Q96JM3,Q8TD30,P11166,Q14683,O60508 16 |
| Respiratory insufficiency 0.2233754341285878 0.5395910702798956 0.5894790762207645 1.0 0.8883617330427342 188 Q15427,P49411,Q9H0U9,Q70HW3,P53597,P50402,P02545,Q96RR1,Q9NQT5,P23786,P49748,Q14807,O43772,P09651,O43819,O60783,Q15067,Q92804,Q96AY3,O95831,Q9NX14,Q9NPL8,P36551,P18583,Q6P1M0,Q9Y6X9,Q14739,Q5T440,Q9NP81,Q13428,Q9NZJ7,P53007,O60934,Q969Y2,P54098,O95299,P51608,P43243,Q99567,Q8N5K1 40 |
| Retinal coloboma 0.3822506899371948 0.5388175692430028 0.5900127394541796 1.0 0.8888754015960026 10 Q8N201,O15078,Q9Y467,O14936 4 |
| Progressive night blindness 0.3465442570541393 0.5375619640293514 0.5908794954182632 1.0 0.8890284357283904 15 O43172,O43837,O75695,O43395,Q6P2Q9,O94906,Q8WWY3 7 |
| Language impairment 0.2287470813876752 0.537049140016457 0.5912336709855477 1.0 0.8890284357283904 299 Q9P273,Q15427,Q03252,Q03164,P20700,Q7L2E3,P11310,Q9BYW2,P22626,Q6ZXV5,P32322,P63000,P55265,Q9NQT5,Q14669,Q7Z5J4,Q9Y4W2,P35251,P09651,O43292,O60783,Q9Y4A5,Q15067,P51649,P51532,Q96TA2,O95831,Q96F86,P82930,P55011,Q9H2P0,P55201,Q5T8D3,Q7Z3K3,P00846,P55795,Q96PU5,P42356,Q9Y6X9,Q8NB90,O60341,O75746,O75787,Q12959,Q00839,Q8TAQ2,Q96JM3,P16219,Q8TD30,P11166,Q14683,Q6KC79,Q06787,Q15233,Q9Y2U8,Q96JX3,Q96N66,Q9UGU0,O15121,P51608,P30038,Q96GM5,Q9NVI7,Q6PJT7,Q96T58,P11233,Q9NUQ7,Q6ZRS2,Q5JPH6,Q8N201,O60281,Q5H8A4,Q68CP9,Q8WVM7 74 |
| Periorbital fullness 0.3158589784670474 0.5369853192106957 0.5912777548637109 1.0 0.8890284357283904 21 Q96N67,P51608,Q96T58,P38159,O14646 5 |
| Elevated urinary carboxylic acid 0.4545297350458389 0.5367278818157303 0.5914555936962258 1.0 0.8890284357283904 6 P11310,P51649,P36551 3 |
| Abnormality of epiphysis morphology 0.2657921052881499 0.5367153457187649 0.5914642543121418 1.0 0.8890284357283904 64 Q9Y2U8,Q14807,Q9UBM7,Q9ULC3,Q15643,Q9NUQ7,O95831,O96028,Q96HY6 9 |
| Prominent forehead 0.2456228760563225 0.5355511770178356 0.5922687790537702 1.0 0.8899475461010041 77 Q14669,Q06787,Q15022,Q69YQ0,Q9UGU0,O43292,Q14739,Q15643,Q9BYW2,P29372,P11233,P32322,O60281,P55011,Q9H2P0,P11166,P18583,P23786 18 |
| Aplasia hypoplasia of the cerebellar vermis 0.2579786709916819 0.5351766450280622 0.5925277144522421 1.0 0.8900465179618234 70 Q12768,Q9BYW2,Q96J42,P63000,Q6NUK1,P23786,Q9Y4A5,P51532,O14497,Q8NFH4,Q8NI27,O15078,Q9H490,P42356,Q69YQ0,Q9UBM7,Q8TAQ2,Q96GM5,P98175,Q99567,Q8N201,P07942,Q68CP9 23 |
| Long foot 0.3975775276802614 0.5343368865813668 0.5931084761500949 1.0 0.8900564286685917 9 Q9BYW2,Q9BZI7,Q15022,O75530 4 |
| Aplasia hypoplasia affecting the eye 0.2381945634142669 0.5342715846121336 0.5931536487330802 1.0 0.8900564286685917 99 Q9P273,P37268,P31040,Q15058,Q9Y4I1,Q8WWQ0,Q12797,Q96J42,Q9Y6N7,O96028,Q6NUK1,Q9UIG0,Q96ST3,O15078,Q9NX14,P18583,Q9BXW9,Q9UBM7,Q96N67,Q13428,Q00839,P11166,P61978,Q9NVI7,Q8N201,Q9Y4P3,O14936 27 |
| Generalized hyperpigmentation 0.3545808767042404 0.5323731182995901 0.5944675996046365 1.0 0.8907027637933254 13 O60832 1 |
| Tented upper lip vermilion 0.3029942616344376 0.5313308884876123 0.5951895042680639 1.0 0.8907027637933254 25 Q9UGU0,P51608,P46100 3 |
| Restrictive behavior 0.4289089864109479 0.5312501725053792 0.5952454292080327 1.0 0.8907027637933254 7 P51608 1 |
| Anophthalmia 0.3637156431480579 0.5310888227541486 0.5953572293136777 1.0 0.8907027637933254 12 Q9NX14,Q96J42,Q96N67 3 |
| Respiratory failure 0.2590466997421421 0.5306381567039791 0.5956695489750157 1.0 0.8907027637933254 69 P49411,P09651,Q13148,O43819,Q5T440,Q70HW3,Q9NP81,Q92804,Q9NZJ7,P53597,Q969Y2,P43243,O60934,Q9NX14,P18583,P23786 16 |
| High narrow palate 0.2802981251444404 0.5292870701869655 0.5966063236533721 1.0 0.8912362773953485 33 Q12768,O60318,P11274,Q15233,P61978,Q96T58,Q96ST3,Q6NUK1,Q68CP9,Q6KC79,P23786 11 |
| Neoplasm of the inner ear 0.510832692261789 0.528659042814497 0.5970419941171357 1.0 0.8913094536528482 3 P35240 1 |
| Abnormality of the vestibulocochlear nerve 0.510832692261789 0.528659042814497 0.5970419941171357 1.0 0.8913094536528482 3 P35240 1 |
| Renal dysplasia 0.3345856280429545 0.5267961362291363 0.5983351663396235 1.0 0.8927619390737044 17 O43819,P09471,Q8N201,Q96T60,Q9BU61,Q9H936,P18583,O43505,O14936,P23229 10 |
| Bladder diverticulum 0.4278227132890569 0.5264976607198597 0.5985424769185963 1.0 0.8927619390737044 7 Q9Y4P3,Q9UIG0 2 |
| Methylmalonic acidemia 0.4520240961295919 0.5264207353391102 0.5985959118604816 1.0 0.8927619390737044 6 P53597,Q4G176 2 |
| Paraplegia paraparesis 0.2441493230725895 0.5237708724380239 0.6004379148062258 1.0 0.8941536974044 83 P31040,Q12768,Q8WWQ0,Q96KR1,P55265,Q9Y4W6,O95831,Q8IY17,P00846,P42356,O43678,Q5T440,O75787,P46100,Q9ULH0,Q8TD30,P11166,P54098,P40818,O95299,Q13148,P51608,P07942 23 |
| Abnormal tongue morphology 0.2485536553400392 0.5235151155088996 0.6006158350089765 1.0 0.8941536974044 75 Q03252,P20700,Q96J42,P02545,Q6NUK1,Q9NQT5,O00567,Q9UIG0,P51532,Q9UHB7,O14497,O15078,P08754,Q9H9Y6,Q9NRZ9,P42356,Q9Y6X9,Q9UBM7,P11274,P46100,Q13428,P61978,P98175,Q9Y4P3 24 |
| Hypotension 0.298527080803216 0.5234044302693568 0.6006928418354505 1.0 0.8941536974044 26 P35610,O43772,P46100 3 |
| Secondary growth hormone deficiency 0.4742375753670756 0.5220643244170413 0.6016255448729824 1.0 0.8948129961185192 5 P35240 1 |
| Foot acroosteolysis 0.4505281794178195 0.5202946559657065 0.6028582200338932 1.0 0.8948129961185192 6 P02545 1 |
| Osteolysis involving bones of the feet 0.4505281794178195 0.5202946559657065 0.6028582200338932 1.0 0.8948129961185192 6 P02545 1 |
| Cerebral palsy 0.3617286212309505 0.520247612045545 0.6028910043180082 1.0 0.8948129961185192 12 P48735 1 |
| Abnormal bronchus physiology 0.450042662522239 0.5183108548151822 0.6042414006327441 1.0 0.8948129961185192 6 Q9H0U9,P46100 2 |
| Bronchospasm 0.450042662522239 0.5183108548151822 0.6042414006327441 1.0 0.8948129961185192 6 Q9H0U9,P46100 2 |
| Abnormality of the female genitalia 0.2349531568890748 0.5169514544757295 0.6051900474245746 1.0 0.8955309280473375 134 Q9NPE3,Q15427,Q03252,Q15058,Q15031,Q9BYW2,P48735,Q8WWQ0,P06748,P02545,O96028,Q96RR1,Q6NUK1,Q5JTZ9,O14974,Q96GM8,O60216,P24468,Q9UIG0,O15078,Q8IY37,Q16740,Q9UQE7,Q9NX14,Q9H9Y6,Q9BXW9,Q9UBM7,Q86W42,O75616,Q69YQ0,O60318,Q13428,O14965,O60934,Q14683,P54098,Q6KC79,Q06787,P40818,Q9UJA3,Q96T58,Q07812,O60832,Q9Y4P3 44 |
| Abnormality of the calf musculature 0.3428947458572825 0.5159465378113441 0.6058917493665175 1.0 0.8955309280473375 15 P53007,P43243,P02545 3 |
| Hamartoma 0.3208582903022227 0.5117458598520103 0.6088288857262427 1.0 0.8978570579648045 19 P48735 1 |
| Muscle hypertrophy of the lower extremities 0.3925965697013418 0.5102657283002522 0.6098653094803492 1.0 0.8981316944090525 9 P02545 1 |
| Postaxial polydactyly 0.2967271267103988 0.5099629669906371 0.6100774067648804 1.0 0.8981316944090525 26 Q9UBM7,Q9ULC3,Q14739,P61978,O00459,P98175,Q9BRT2,Q96J42 8 |
| Abnormality of the musculature of the limbs 0.2217098012961326 0.5099117882942341 0.6101132628733534 1.0 0.8981316944090525 163 P31040,P62913,Q12768,O15269,Q96F07,P61313,P51530,P50402,P02545,P55265,Q96RR1,Q9Y4W6,Q7Z5J4,Q99720,P09651,Q9BW92,O43819,Q86U42,Q15067,P50336,O14979,Q8WVX9,Q8IY17,P36551,P00846,P42356,Q9Y6X9,O60568,Q8NB90,O60318,O60341,Q5T440,Q14739,P46100,Q9NZJ7,Q02809,Q9ULH0,Q15046,P53007,P54098,P35240,P40818,Q7Z406,Q13126,P43243,P54886,Q07020,Q8WXH0,Q92560 49 |
| Facial telangiectasia 0.4710520754147759 0.5098107563543341 0.6101840492167359 1.0 0.8981316944090525 5 P46100 1 |
| Plagiocephaly 0.2749718287229082 0.508913848533821 0.6108126125158477 1.0 0.8987599977771742 35 Q9UGU0,P24928,O14936,Q9UQE7,Q9UHB7,Q96F07,Q9ULH0,O60281,P63000,P55265,Q68CP9,Q9H2P0,Q15233 13 |
| Hypercalcemia 0.3202668223341274 0.5078899191985505 0.6115305447418913 1.0 0.8989655010395787 19 P31040,Q6P1J9,Q02978,Q9BYW2,Q9UIG0,Q969N2,P29992,Q9Y4P3,P40926,P36957,O00443 11 |
| Aplasia hypoplasia involving the sinuses 0.4473533980923266 0.5073631136284508 0.6119000621463333 1.0 0.8992219593543502 6 P46100 1 |
| Abnormality of the anus 0.2685668595306114 0.5064069084197126 0.6125710257914532 1.0 0.8994530042785086 44 P49748,O60832,Q9BXW9,Q86W42,Q69YQ0,Q12768,P78536,Q15022,Q14839,P29372,Q96T58,O60934,Q9NX14,Q6NUK1 14 |
| Fragile skin 0.3677973683065014 0.5063049191048823 0.6126426102894831 1.0 0.8994530042785086 11 P14923,P17252,P36551,P23229 4 |
| Proximal muscle weakness 0.2566419185967958 0.5034769525305904 0.614628980381942 1.0 0.900519700531899 69 P31040,P11310,P22626,P50402,P51530,P02545,Q96RR1,Q99720,P09651,Q86U42,P50336,Q5T8D3,P36551,P00846,Q9Y6X9,P17252,P53007,P54098,Q7Z406,Q13148,Q13126,Q8NI60,Q8WXH0 23 |
| Stage 5 chronic kidney disease 0.2886336707573695 0.5030460572754896 0.6149318909488977 1.0 0.900519700531899 28 Q9NQH7 1 |
| Abnormality of cranial sutures 0.2411357064030372 0.5007959111757926 0.6165147635521939 1.0 0.9013736876180558 88 Q9ULC3,Q9BYW2,P02545,Q8NC56,Q96AY3,Q9UHB7,O95831,Q04721,Q9UQE7,P18583,Q32P28,Q69YQ0,Q00839,Q9Y2U8,Q14839,P61978,Q96GM5,Q96T58,O60281,Q68CP9 20 |
| Heteronymous hemianopia 0.4456413914600584 0.5004300208144458 0.6167723191734553 1.0 0.9013736876180558 6 Q92560,P35240 2 |
| Cerebral visual impairment 0.2576338553576952 0.499383383831651 0.6175093227072757 1.0 0.9013736876180558 68 P37268,Q96N67,P20700,Q8NB90,Q96N66,P54098,Q6PJT7,Q9NUQ7,Q96JM3,Q96F86,Q7Z3K3,Q9H2P0,Q14683,P53007,Q96RR1,P18583,Q4G0N4,Q9H490 18 |
| Abnormal fingertip morphology 0.2843216093482611 0.4991970839074202 0.6176405487231205 1.0 0.9013736876180558 29 P62266,Q14669,Q9UGU0,Q6ZRS2,O60281,P55011,O14646 7 |
| Urethral stenosis 0.3351983362052909 0.4989389848108089 0.6178223688347009 1.0 0.9013736876180558 16 Q9NPE3,Q9UIG0,P06748,P21333,O60832,Q9Y4P3,P23229 7 |
| Abnormality of the humerus 0.3486173066967651 0.4988071970617693 0.6179152168704976 1.0 0.9013736876180558 13 P53597,O75367,O00116,Q6ZRS2 4 |
| Hypertelorism 0.2242786094950606 0.4981884820981864 0.6183511998806732 1.0 0.9013736876180558 204 Q9P273,P62913,Q03164,P20700,Q12768,Q8WWQ0,P29372,P32322,P61313,Q96J42,P02545,O96028,Q14669,Q7Z5J4,O60783,O43292,O00459,Q9Y4A5,Q15067,Q9UHB7,O95602,O00571,O95831,Q04721,Q7Z3K3,P55011,P55201,P55795,Q15022,Q9UBM7,Q69YQ0,Q9BXW9,Q14739,O60341,P46100,Q13428,Q00839,Q15233,Q9Y2U8,Q14839,Q9UGU0,Q96GM5,P98175,Q96T58,Q99567,Q8N201,O60281,Q5H8A4 48 |
| Hip dislocation 0.2669365782782661 0.4978756508637461 0.6185716903636169 1.0 0.9013736876180558 58 Q14807,Q15427,Q9BXW9,Q9UBM7,P32322,P02545,P55011,O96028,P53007,Q14683,Q6KC79,Q9NQT5 12 |
| Limited hip movement 0.3484321585419719 0.4977738357468379 0.6186434593543446 1.0 0.9013736876180558 13 Q9BYW2,P02545 2 |
| Degeneration of the lateral corticospinal tracts 0.4448993081362569 0.4974337478383963 0.6188832120639169 1.0 0.9014231865596156 6 O00400,Q12768,Q13148 3 |
| Chronic constipation 0.2840635989535103 0.4971709500479701 0.6190685051296623 1.0 0.9014231865596156 29 Q7Z5J4,P55795,Q03252,P55011,P20700,P51608,Q7Z3K3,O60281,Q9H2P0,P09543 10 |
| Scotoma 0.3571779866449893 0.4956282099054707 0.6201567459321455 1.0 0.9015370866107244 12 P00846,O43395 2 |
| Abnormality of lower lip 0.2597597869654006 0.4954466776391044 0.6202848526155984 1.0 0.9015370866107244 66 P62266,Q69YQ0,Q96N67,Q96GM5,P51608,Q9UIG0,P46100,P51532,Q8TAQ2,O14497,P38159,Q96JM3,Q9H2P0,P11166,Q9Y4P3,Q68CP9,Q7L2E3 17 |
| Renal cell carcinoma 0.3120711449992789 0.4939848452861028 0.6213168822920636 1.0 0.9024167698066834 20 P31040,Q6P1J9,P04637,Q02978,Q07812,P35222,P02545,Q86U86,O14965,Q92560,P40926,P36957 12 |
| Retinal vascular tortuosity 0.3341462491969214 0.4926481168888448 0.6222612432170074 1.0 0.9028848902985408 16 P00846,Q9Y4P3,Q9UIG0,Q8WYQ5 4 |
| Abnormal urine alpha ketoglutarate concentration 0.419685891282838 0.4912833834865454 0.6232260306667341 1.0 0.903481761438253 7 P09622,P30038 2 |
| Cone shaped epiphysis 0.3429972651635806 0.4905042357795336 0.6237771332128499 1.0 0.9039964112264188 14 Q5JRA6,Q15643,Q6ZRS2,O95831,O15078,Q96PY6 6 |
| Persistent head lag 0.4192389657890504 0.4893695784747675 0.624580069582725 1.0 0.9045499547715588 7 P51608,Q15233 2 |
| Finger syndactyly 0.2681633410472146 0.4891327249102286 0.6247477344886427 1.0 0.9045499547715588 41 Q9Y2U8,Q14692,Q15427,Q9UBM7,Q15022,Q9ULC3,Q8IY17 7 |
| Renal cyst 0.2579511765429495 0.4888307452189324 0.6249615293243682 1.0 0.9045754003721624 67 Q9Y4P3,Q9NQH7,Q9UBM7,Q9Y4A5,Q9UIG0,Q15643,Q6ZRS2,Q14697,Q96T58,Q04721,Q96J42,Q9UQE7,Q14683,Q6KC79,P23786 15 |
| Abnormal peripheral myelination 0.2765150584791802 0.4870783259815884 0.6262028253181144 1.0 0.9058032710123964 32 P00846,Q7Z5J4,Q9Y6X9,P20700,O15269,P02545,P54098 7 |
| Impaired proprioception 0.2684935858716648 0.484090203230212 0.6283218536972608 1.0 0.9080137133367938 40 Q12768,P20700,P18887,Q96RR1,P07196,P35251,O43819,Q15120,Q8WVX9,O00400,P00846,O94905,Q9Y6X9,Q00796,Q02809,O15020,Q8N0X7,Q99700,P54098,Q06787,P54886,P10809 22 |
| Enuresis 0.4416047548291253 0.4835335259425821 0.6287169609972063 1.0 0.9082999655898216 2 Q9UJS0 1 |
| Increased laxity of ankles 0.4413075780089169 0.4823838323928227 0.6295333041276812 1.0 0.9089096561317288 2 Q96C36 1 |
| Long palpebral fissure 0.2927748424865321 0.4807473805446434 0.6306960522053386 1.0 0.9099635494141683 26 P51608,O00459,Q96T58 3 |
| Neoplasm of the skeletal system 0.2680101648095364 0.4798429959350502 0.6313390373431949 1.0 0.9099635494141683 40 P62913,Q13428,P48735,P02545 4 |
| Cachexia 0.3213885820952997 0.4785032817088999 0.632292039100278 1.0 0.9103267646009624 18 P11310,P51608,Q99720,P02545 4 |
| Cone shaped epiphyses of the phalanges of the hand 0.3701758227411789 0.4776646120501013 0.6328889353973075 1.0 0.9109016522577544 10 Q5JRA6,Q15643,Q96PY6,Q6ZRS2 4 |
| Spastic tetraparesis 0.2922618880624143 0.476986852512106 0.6333714838165645 1.0 0.9113116543053564 26 P00846,P31040,P20700,Q9H9P8,Q5JPH6,Q9NZJ7,P55265,Q14683 8 |
| Knee flexion contracture 0.2849530762967903 0.4748546925801355 0.6348905468637245 1.0 0.9129274550972458 28 P37268,O00459,Q96AY3,P23786 4 |
| Hypoplasia of the ear cartilage 0.4949091567658025 0.4729479319718517 0.6362503270903068 1.0 0.9131737259920032 3 Q8WUM0 1 |
| Small earlobe 0.4611049226607139 0.4721446729768248 0.6368235277338692 1.0 0.9132400233927052 5 P10586 1 |
| 3 methylglutaconic aciduria 0.3437810752007115 0.4719968934135661 0.6369290060039057 1.0 0.9132400233927052 13 P53597,Q9NVI7,P54098,Q96JX3 4 |
| Neuronal loss in basal ganglia 0.4610054772192118 0.4717728685432037 0.6370889187051931 1.0 0.9132400233927052 5 O43819 1 |
| Abnormality of the spinal cord 0.2441484471479771 0.4705638647114245 0.6379522174532919 1.0 0.9140462736667458 75 Q9Y4P3,Q14692,Q12768,P20700,Q9ULC3,Q9BYW2,P51530,O96028,Q96RR1,Q7Z5J4,Q14807,Q9UIG0,Q04721,Q8IY17,Q9BXW9,Q9Y6X9,O60341,P54098,P35240,Q9Y2U8,Q5H8A4 21 |
| Chronic lung disease 0.3842161799755784 0.4704298260830599 0.6380479590666996 1.0 0.9140462736667458 9 Q9UHB7 1 |
| Generalized myoclonic seizure 0.2640665869921402 0.4701523230922347 0.6382461941286888 1.0 0.9140462736667458 43 P00846,Q96N66,Q8NB90,P51608,Q9BYW2,Q96JM3,P11166 7 |
| Focal dystonia 0.2974882984347992 0.4687869714194106 0.6392219135063266 1.0 0.9148752006408464 24 Q99720,Q13428,P02792 3 |
| Autistic behavior 0.2220281508003845 0.4670661686611203 0.6404525380694355 1.0 0.9157835609491616 200 Q9BYW2,O14646,Q96RR1,Q14669,Q7Z5J4,Q9Y4A5,Q15067,P51649,P51532,Q9UIG0,O00571,O14497,Q96F86,Q7Z3K3,P55011,Q9H2P0,Q9UQE7,Q9NX14,Q9NPL8,P18583,P62266,P55795,Q9UBM7,Q69YQ0,Q96N67,Q8NB90,O75746,P46100,Q8TAQ2,Q96JM3,P53007,P11166,Q14683,Q6KC79,Q06787,Q15233,Q96N66,Q9UGU0,Q96GM5,P51608,P30038,Q6PJT7,Q96T58,P11233,Q9NUQ7,Q8N201,O60281,Q5H8A4,Q9Y4P3,Q68CP9,Q8WVM7 51 |
| Emotional lability 0.262552202478389 0.4664142002640541 0.6409190490338601 1.0 0.9161664545879364 60 P31040,O75251,Q9Y4W2,P09651,Q92804,P02792,O43678,P17252,P50995,Q9NZJ7,Q96PY6,P54098,P35240,P40818,O95299,Q13148,P51608,P43243,P08559,P29992,Q92560 21 |
| Vertical supranuclear gaze palsy 0.351414776548308 0.464891003363332 0.6420095135305228 1.0 0.9171564479007468 12 O00567,Q96RR1,P54098,P02792 4 |
| Resting tremor 0.3022594803379884 0.462402223241989 0.6437929052882776 1.0 0.9188499360306376 22 Q06787,P51608,Q96RR1,Q14683,P54098,P02792 6 |
| Abnormal cranial nerve physiology 0.2414709339931585 0.460655847375796 0.6450455370270647 1.0 0.9196884364554252 76 Q14692,Q9BXW9,O43819,Q86U42,P51608,Q96TA2,P48735,Q96T58,P16219,P02545,P53007,Q96RR1,P54098,Q15043,P35240 15 |
| Patellar dislocation 0.3069939274112475 0.4604707030866776 0.645178395552461 1.0 0.9196884364554252 20 Q6ZXV5,Q96PU5,Q9UIG0,Q04721 4 |
| Ankylosis 0.4578424606494666 0.4599981658532163 0.6455175370161967 1.0 0.91973739492292 5 P02545 1 |
| Tibial bowing 0.4910514458382952 0.4597853147260105 0.6456703250296256 1.0 0.91973739492292 3 Q32P28 1 |
| Metopic synostosis 0.4909117071895158 0.4593111003569066 0.6460107776052961 1.0 0.91973739492292 3 P18583 1 |
| Neoplasm of the pituitary gland 0.3282816501670224 0.4579601620853044 0.6469810626726744 1.0 0.9205502157163672 16 P35240,P48735,Q14697 3 |
| Abnormality of the abdominal wall 0.2323166097656738 0.4576358183589227 0.6472141056716063 1.0 0.9205976634205816 116 Q15427,Q12768,Q9ULC3,Q9BYW2,P32322,P02545,P63000,Q9H936,Q6NUK1,Q96HY6,O14974,P09651,P24928,Q9Y4A5,Q9UIG0,Q96ST3,Q04721,Q7Z3K3,Q9H2P0,Q8WYQ5,Q9NRZ9,Q32P28,Q15022,Q9UBM7,Q69YQ0,Q9BXW9,P11274,Q14739,Q15643,P46100,Q02809,Q6KC79,P51608,P50454,O75530,Q6ZRS2,Q9Y4P3,O14936 38 |
| Abnormal basal ganglia mri signal intensity 0.2724084378360337 0.4538967318206038 0.6499031559571584 1.0 0.9215355621886452 32 P00846,P31040,O95299,O43678,Q9NYY8,O75251,P08559,P53597,Q8NI60,Q969Y2,Q4G0N4 11 |
| Enlarged posterior fossa 0.2643632264035424 0.4532478666779932 0.6503702682201493 1.0 0.9215355621886452 50 P49748,Q9UBM7,Q12768,Q96GM5,Q9BYW2,P51532,Q8TAQ2,O14497,O15078,Q7Z3K3,Q96J42,P63000,Q99567,Q9NPL8,Q68CP9,Q9H490,P23786 17 |
| Abnormal globus pallidus morphology 0.3574616119291431 0.453042568964387 0.6505180888441737 1.0 0.9215355621886452 11 O43819,P24928,P02792,Q9BU61 4 |
| Abnormal shape of the frontal region 0.2316820933614023 0.4529075827716008 0.6506152905182789 1.0 0.9215355621886452 113 Q12768,P29372,P32322,O14646,Q8ND04,O96028,Q7Z5J4,O00459,Q15067,Q9UQE7,P11171,Q96LT9,P18583,Q9BXW9,Q69YQ0,Q14739,O60341,Q15643,Q13428,Q00839,Q9ULH0,P19022,Q06787,Q15233,Q9Y2U8,Q9UGU0,Q96GM5,Q9NVI7,Q96T58,Q8N201,Q5H8A4,Q68CP9 32 |
| Vestibular dysfunction 0.2820409173749073 0.4528397904140093 0.6506641090909464 1.0 0.9215355621886452 28 P35251,O00567,Q14980,Q96RR1,P54098,P35240 6 |
| Abnormal iliac wing morphology 0.3570672210113862 0.4510414005788357 0.6519597106578832 1.0 0.9217351806772384 11 Q15643,O95831 2 |
| Overfriendliness 0.4330641552425868 0.4504131588436565 0.6524125584706788 1.0 0.9217351806772384 6 Q9UIG0 1 |
| Phonophobia 0.4330641552425868 0.4504131588436565 0.6524125584706788 1.0 0.9217351806772384 6 Q9UIG0 1 |
| Nystagmus induced head nodding 0.4330641552425868 0.4504131588436565 0.6524125584706788 1.0 0.9217351806772384 6 Q9UIG0 1 |
| Flat cornea 0.4330641552425868 0.4504131588436565 0.6524125584706788 1.0 0.9217351806772384 6 Q9UIG0 1 |
| Motor deterioration 0.4542326938861715 0.4466839422905458 0.6551032775014638 1.0 0.9235951227835228 5 P51608 1 |
| Hypoplastic heart 0.478749534682459 0.4466449092709865 0.6551314645340822 1.0 0.9235951227835228 4 P24468 1 |
| Generalized hypopigmentation of hair 0.3635832431155837 0.445090565628395 0.6562543064638935 1.0 0.9241904066617428 10 Q9NPE3,Q13724,Q9Y4I1,P06748,O60832 5 |
| Thick vermilion border 0.23827190429958 0.444961875237756 0.6563473059460911 1.0 0.9241904066617428 78 P38159,Q8ND04,Q9UIG0,P51532,Q9Y3B2,O14497,Q9H2P0,P62266,P55795,Q96N67,P46100,Q8TAQ2,P11166,Q15233,Q96GM5,P51608,Q96T58,Q9Y4P3,Q68CP9 19 |
| Abnormal sharpey fiber morphology 0.4536259800414169 0.4444593522626324 0.6567105105179809 1.0 0.9241904066617428 5 P29992,P02545 2 |
| Vitritis 0.4780448935307637 0.4442181890777318 0.6568848429480214 1.0 0.9241904066617428 4 Q9NX14 1 |
| Absent thumbnail 0.4535193386512711 0.4440687362275746 0.6569928890383536 1.0 0.9241904066617428 5 Q9H936,P09471,O14936 3 |
| Hand tremor 0.3346829354710806 0.4438410366685036 0.6571575169278074 1.0 0.9241904066617428 14 Q96KR1 1 |
| Respiratory distress 0.2614437344325633 0.4433006273376692 0.657548302096596 1.0 0.9244579666560864 58 Q13724,P49748,P00846,P35658,O43819,Q15643,P53007,P53597,Q8TCJ2,O95831,P16219,Q9H2P0,P08754,Q9NX14,P23786 15 |
| Chest pain 0.3255106582637038 0.4418047564975944 0.6586304963204439 1.0 0.9251330249961142 16 P31040,P04637,Q02978,P50336,P35222,P19022,Q92560,P40926,Q9BTV4 9 |
| Narrow mouth 0.2521997757510618 0.4400312255056237 0.6599144917869366 1.0 0.9258854498594232 68 Q14669,Q9UGU0,Q9NVI7,P51608,O00459,Q13428,Q96T58,Q04721,P02545,Q8NC56,Q7Z3K3,P18583,P55201,Q15233 14 |
| Neonatal death 0.3339205759574588 0.4396255383808458 0.6602083408877197 1.0 0.9258854498594232 14 Q14739,Q9NVI7,P53597,Q9NX14,Q6NUK1 5 |
| Abnormal odontoid tissue morphology 0.261117592979887 0.4390638549162824 0.6606152684607711 1.0 0.9258854498594232 44 Q9Y4P3,Q5JRA6,Q9UBM7,P50454,Q15643,Q9UIG0,Q96AY3,Q13428,Q9NX14,Q92925,Q9H9Y6,P23229 12 |
| Bruxism 0.4065278868894816 0.4358975980708827 0.6629110279040566 1.0 0.9258854498594232 7 P51608,Q7L2E3 2 |
| X linked recessive inheritance 0.2625053274020139 0.4357995307040403 0.6629821843787325 1.0 0.9258854498594232 51 Q9Y4W2,O14654,P51608,O75787,P51572,P29372,P46100,P50402,P38159,O95831,O60832,Q14683,Q15233 13 |
| Calcific stippling 0.4276374442793481 0.4306519019024471 0.6667214965071484 1.0 0.9302621364703252 2 P51659 1 |
| Distal sensory impairment 0.2609964057235115 0.4302566682328244 0.6670089440416644 1.0 0.930298467310958 46 Q9Y6X9,O15269,Q5T440,P43243,Q8N2K0,O95831,P02545,P54098 8 |
| Neoplasm of the skin 0.260560279710235 0.4299376048469952 0.667241029731259 1.0 0.930298467310958 45 Q01831,P02545,O60832,Q06136,P35240 5 |
| Eyelid myoclonus 0.3603100700257522 0.4291520875578318 0.6678125481473149 1.0 0.9303425068893086 10 P00374 1 |
| Hand muscle weakness 0.3526725934107471 0.4289083049368531 0.6679899561396121 1.0 0.9303425068893086 11 Q14315,P07196,P54098,Q9Y6X9 4 |
| Oculomotor nerve palsy 0.4274394744058696 0.428601934344346 0.6682129375984229 1.0 0.9303491709786382 6 P35240 1 |
| Hyperkinetic movements 0.3525603762195236 0.4283471951561567 0.6683983631846528 1.0 0.9303491709786382 11 P51649,Q96TA2,Q9NZJ7,P53597,Q8NI27 5 |
| Slowly progressive 0.2585652244073528 0.4266261092290606 0.6696516775970838 1.0 0.9305991418853338 60 Q99720,Q9Y6X9,P51608,Q5T440,O14979,Q8N2K0,P50402,O95831,P02545 9 |
| Hypomimic face 0.3314631143267675 0.4261129944262009 0.6700255119334542 1.0 0.9305991418853338 14 Q96RR1,P54098,Q15043,P02792 4 |
| Peptic ulcer 0.3439812957501077 0.4260369209101442 0.6700809429277788 1.0 0.9305991418853338 12 O76024,Q9Y4P3,Q9UIG0,Q8N5K1 4 |
| Sensorimotor neuropathy 0.2688094485393162 0.4253131282266381 0.6706084245465667 1.0 0.9305991418853338 32 P00846,Q8N2K0,O95831,P54098 4 |
| Focal t2 hyperintense basal ganglia lesion 0.2940485413558536 0.4252714277463756 0.6706388197414315 1.0 0.9305991418853338 23 P00846,P31040,O95299,O43678,O75251,P08559,P53597 7 |
| Abnormality of thyroid physiology 0.2365470063964045 0.4245333553499663 0.6711768848247135 1.0 0.9305991418853338 77 Q13724,Q7Z5J4,P35240,P61978,O14654,Q9NW13,Q9BYW2,Q9UIG0,Q8WWQ0,Q96T58,Q9UHB7,Q9Y6N7,Q14683,P55265,Q96RR1,Q9Y4P3,P54098,Q06787 18 |
| Large forehead 0.4258821677405292 0.4226276860935624 0.6725669234809537 1.0 0.9305991418853338 6 Q68CP9,Q06787 2 |
| Chorioretinal coloboma 0.4030826136464582 0.4217420186395251 0.6732133310016108 1.0 0.9305991418853338 7 O15078,Q12768 2 |
| Short attention span 0.2280558215981062 0.4215776110672903 0.6733333510367192 1.0 0.9305991418853338 138 Q03164,Q15058,Q9BYW2,Q8WWQ0,P53597,Q14669,O00567,Q9UIG0,Q96F86,P55011,Q9H2P0,Q9UQE7,Q9BXW9,Q9UBM7,Q9BVA1,P11166,Q14683,Q06787,Q6KC79,Q96N66,Q9UGU0,P51608,Q6PJT7,Q6ZRS2,Q96T58,Q9NUQ7,O60281,Q68CP9 28 |
| Facial asymmetry 0.2693946674686722 0.4211787162381051 0.6736245849178653 1.0 0.9305991418853338 31 Q9BXW9,Q03164,Q9UQE7,Q96ST3,Q14683,O96028,P08754,P18583,Q9H9Y6 9 |
| Abnormality of dental morphology 0.2525971873487032 0.419348096154409 0.6749617511466854 1.0 0.9314432064997342 66 Q9NPE3,P06748,Q92925,Q6NUK1,Q14669,Q7Z5J4,Q9UIG0,Q9Y487,Q8IY37,P55011,Q9UQE7,O75648,Q9H9Y6,P04080,Q9UBM7,P17252,Q12959,Q13428,Q96A33,Q9UGU0,Q6ZRS2,O60832,Q9Y4P3 23 |
| Otitis media 0.2589602094086695 0.4146749679330265 0.6783798595132209 1.0 0.9340444559095236 57 Q9Y4P3,Q06787,P62913,Q9UBM7,Q14739,Q9BYW2,Q9UIG0,Q6ZRS2,Q12959,P63000,O96028,Q92925,Q5H8A4,Q6KC79 14 |
| Pendular nystagmus 0.4013405088427273 0.4146423742735427 0.6784037231425786 1.0 0.9340444559095236 7 P00846,Q9P273 2 |
| Camptodactyly of toe 0.4230803117029912 0.4119517087319919 0.6803748191780077 1.0 0.9354392831525844 6 P14923 1 |
| Vitreous hemorrhage 0.4227253024550538 0.410605771633048 0.6813616308975081 1.0 0.9359586169360884 6 Q92560,P29992,O75533,P35222 4 |
| Abnormal eyelid morphology 0.2122285928884828 0.4100443948033035 0.6817733814415203 1.0 0.9362452452920492 359 Q03164,P20700,P29372,Q01831,P32322,Q14669,P78536,O00459,Q9UHB7,P62304,Q04721,P55011,Q9UQE7,Q02487,Q9NX14,P62266,P55795,Q9UBM7,O60341,Q13428,Q9BRT2,Q8TAQ2,Q6KC79,Q9UGU0,P61978,P51608,P98175,Q96T58,O60281,O60832,Q9Y4P3,Q9NPE3,Q9P273,Q15427,Q12768,Q8WWQ0,P61313,P63000,P55265,Q7Z5J4,Q9Y4A5,Q15067,P51532,O95602,O14497,O15078,Q9H2P0,P55201,Q13724,P46100,Q96JM3,Q8N201,P37268,P62913,Q15058,Q9ULC3,Q9BYW2,P38159,P02545,O14646,O96028,P10412,Q9UIG0,Q8IY17,Q9H490,Q15022,Q69YQ0,Q00839,Q14683,Q96GM5,P11233,Q5H8A4,Q68CP9,Q8WVM7,Q12797,Q9Y3B2,P18583,Q9BXW9,Q96N67,Q15233,Q14839,Q9NVI7,Q6ZRS2,Q7L2E3 84 |
| Hemiparesis 0.3100963481105347 0.4094198823118664 0.6822315511934363 1.0 0.9362759298175574 18 Q9BVA1,P11166 2 |
| Thyroid carcinoma 0.3198290289689018 0.409183481065769 0.6824050160926232 1.0 0.9362759298175574 16 Q96GM5,Q8TAQ2,Q68CP9,P51532 4 |
| Dermal translucency 0.3704196028958237 0.4068724774469751 0.6841016512036893 1.0 0.9380453932328994 9 P32322,P02545,O14646 3 |
| Abnormality of the incisor 0.2684568838838089 0.4061532846553831 0.6846299762585186 1.0 0.938490690024315 30 Q14669,Q96N67,Q9UGU0,P46100,Q12959,Q14683,Q8WVM7 7 |
| Abnormal cortical gyration 0.2263914357537497 0.4036633176727382 0.686460317674586 1.0 0.939881813032326 140 P37268,Q15427,P49411,Q15058,Q6ZXV5,O60508,P23786,Q9Y320,O00459,P51532,Q96F86,Q15022,Q5T440,Q96JM3,Q9BVA1,Q96N66,Q96GM5,P51608,Q9NUQ7 19 |
| Abnormality of the gallbladder 0.2605432730680361 0.4033269325599152 0.6867077312072865 1.0 0.9399112816743198 38 Q9Y4P3,Q69YQ0,Q9UBM7,P51608,Q9UIG0,Q9NZJ7,O96028,Q5H8A4,P11171,P18583 10 |
| Supravalvular aortic stenosis 0.3984819672878493 0.4030796763000479 0.6868896112713196 1.0 0.9399112816743198 7 Q9UIG0 1 |
| Radial deviation of the hand or of fingers of the hand 0.3546039189430114 0.4017623638245055 0.6878589229255727 1.0 0.9401214452080908 10 Q15427 1 |
| Microcornea 0.2644221380553458 0.4001394849704848 0.6890537833463641 1.0 0.9404678198733146 33 Q9P273,Q7Z5J4,O60216,Q9ULC3,Q9NP72,Q02809,P32322,O15078,Q96J42,Q14683,Q9UQE7,O75845,O43505,Q6KC79 14 |
| Optic disc pallor 0.2585416225660122 0.4000603893256027 0.6891120381457627 1.0 0.9404678198733146 50 P00846,O95831,Q9NPL8 3 |
| Pes cavus 0.2278439145110448 0.4000327637064373 0.6891323851479516 1.0 0.9404678198733146 100 O15269,Q8WWQ0,Q8N2K0,P02545,Q96RR1,Q14669,Q9Y4W2,Q99720,O95831,Q15022,Q9Y6X9,Q14739,Q5T440,P53007,P54098,Q9UGU0,P51608,Q96T58,O00764 19 |
| Abnormal electrophysiology of sinoatrial node origin 0.3466906790369189 0.3992915822109024 0.6896783689072485 1.0 0.9409343831495756 11 P02545 1 |
| Abnormal mitochondria in muscle tissue 0.2926239747187281 0.3983934641955713 0.6903401748795608 1.0 0.9410709205483092 22 P31040,O75251,Q9NX14,Q9Y4W6,Q9NPL8,Q9BU61 6 |
| Abnormal ciliary body morphology 0.4637390767014068 0.3960279340034037 0.6920844210369175 1.0 0.9415918338652453 4 P29992,Q92560 2 |
| Aplasia hypoplasia involving the carpal bones 0.4637374228256615 0.3960224860558884 0.6920884400227845 1.0 0.9415918338652453 4 Q14807 1 |
| Carpal bone hypoplasia 0.4637374228256615 0.3960224860558884 0.6920884400227845 1.0 0.9415918338652453 4 Q14807 1 |
| Abnormal ovarian morphology 0.2707699086845158 0.3957052133540765 0.6923225090856389 1.0 0.9415918338652453 29 O14974,Q03252,O75616,Q15031,Q9BYW2,Q9UIG0,Q8WWQ0,O15078,P02545,Q9Y4P3,Q9UJA3 11 |
| Broad based gait 0.286644284670583 0.3942069439179138 0.6934282594300449 1.0 0.9415918338652453 24 P51608,Q03164 2 |
| Progressive spasticity 0.312446478579046 0.393808325023441 0.6937225576016404 1.0 0.9416732828432058 17 O15121,P51608,P54098 3 |
| Neonatal hypoglycemia 0.381730415345175 0.392990433606883 0.6943265470167757 1.0 0.9416732828432058 8 Q9BYW2,O43772 2 |
| Abnormality of the skull base 0.2561819728889895 0.3925378565704746 0.6946608456811609 1.0 0.9416732828432058 58 Q12768,Q9BYW2,Q96J42,P63000,P23786,P49748,P51532,O14497,O15078,Q7Z3K3,Q04721,Q9NPL8,Q9H490,Q9UBM7,Q14739,Q8TAQ2,Q96GM5,Q99567,Q68CP9 19 |
| Sagittal craniosynostosis 0.4391205787495603 0.3924661101332355 0.6947138470606817 1.0 0.9416732828432058 5 Q9ULC3,P18583 2 |
| Decreased activity of mitochondrial complex iii 0.3814474106526576 0.3917977200164653 0.6952076798231734 1.0 0.9417888345532852 8 Q5JPH6 1 |
| Abnormal venous morphology 0.2801616807650102 0.3905756804864196 0.6961109047088849 1.0 0.9419052746427824 26 Q7Z5J4,P98175,Q6ZRS2,Q02809,P32322,P02545,Q8NC56,Q8ND04,Q92560,Q6NUK1 10 |
| Abnormality of the palpebral fissures 0.221482955468123 0.3897933394135043 0.6966893693655121 1.0 0.9421109175875904 223 Q9P273,Q15427,Q03164,P20700,Q12768,Q15058,Q9BYW2,Q8WWQ0,P32322,P38159,Q12797,P02545,P63000,O14646,O96028,Q14669,Q7Z5J4,O00459,Q9Y4A5,Q9UIG0,Q9UHB7,O95602,O15078,Q04721,P55011,Q9H2P0,P55201,P18583,Q13724,P55795,Q15022,Q9UBM7,Q86W42,Q69YQ0,Q9BXW9,O60341,P46100,Q13428,Q00839,Q9BRT2,Q96JM3,P19022,Q14683,Q15233,Q14839,Q9UGU0,P61978,P98175,P51608,Q9NVI7,Q96T58,Q8N201,O60281,Q5H8A4,Q9Y4P3,Q68CP9 56 |
| Subcapsular cataract 0.3943091735178641 0.3863998591964778 0.6992005543876068 1.0 0.9438695624383212 7 Q8N2K0 1 |
| Schwannoma 0.4606798303724797 0.3860014157434203 0.6994956203002933 1.0 0.943991454796356 4 P35240 1 |
| Pericardial effusion 0.4369238518392124 0.3848012438794262 0.700384677477051 1.0 0.9447690544069504 5 P49748,P02545 2 |
| Abnormal preputium morphology 0.4157836782766786 0.3846027889124331 0.7005317275311806 1.0 0.9447690544069504 6 O60832,Q9BYW2 2 |
| Neoplasm of the breast 0.2727365162398318 0.3843937433326834 0.7006866370970419 1.0 0.9447690544069504 28 P46100,P48735 2 |
| Neoplasm of the eye 0.3058042696582986 0.3839565802422494 0.7010106293786227 1.0 0.944929532583465 18 Q01831 1 |
| Periodontitis 0.3434113306644611 0.3833192118711617 0.7014830961381548 1.0 0.9452569853419648 11 Q9NPE3,Q5JRA6,P06748,Q04721,O60832 5 |
| Focal white matter lesions 0.3933177418995873 0.3824724121242392 0.7021109881906942 1.0 0.9452569853419648 7 P54098,Q9H2P0 2 |
| Infectious encephalitis 0.3503064720143272 0.3814843293467217 0.7028438970478261 1.0 0.9452569853419648 10 Q9Y4L1,Q14739,P46100,Q9H9P8 4 |
| Abnormal right atrium morphology 0.4671482378615573 0.3814778217168297 0.7028487249887156 1.0 0.9452569853419648 3 Q7L590 1 |
| Skeletal muscle atrophy 0.2133555393889886 0.3812336190287204 0.7030299050085902 1.0 0.9452569853419648 165 P31040,Q03252,Q12768,P11310,O15269,P53597,P22626,Q8N2K0,P51530,P50402,P02545,Q9Y4W6,Q9NQT5,Q7Z5J4,Q99720,P09651,O43819,O00567,Q9NW13,O00459,P24928,Q92804,O14979,O95831,O15078,Q8IY17,Q9NPL8,Q9Y6X9,O60568,Q5T440,O75477,P17252,P50995,Q9BVA1,P53007,O60934,P54098,P40818,Q9Y2U8,Q7Z406,Q13148,Q9NVI7,P51608,Q13126,P43243,P54886,Q99567,Q8WXH0 48 |
| Spastic tetraplegia 0.2555762263409058 0.3804477893321532 0.7036130459460186 1.0 0.9452569853419648 41 O15121,P51608,Q5T440,O60508 4 |
| Smooth philtrum 0.2345066812133575 0.3792476410014928 0.704503976862509 1.0 0.9452569853419648 76 P29372,Q8NC56,Q8ND04,Q6NUK1,Q7Z5J4,Q14669,O60216,Q9Y4A5,Q9Y3B2,Q96ST3,Q8WVX9,P55011,Q9H2P0,Q9UQE7,P10586,P18583,Q9H490,Q86W42,Q69YQ0,Q00839,P19022,Q14683,Q9UGU0,Q6ZRS2,O60281,O14936 26 |
| Abnormal peripheral nervous system morphology 0.2132344740727457 0.3790724682001489 0.7046340504562187 1.0 0.9452569853419648 165 Q14692,O15269,P22626,Q8N2K0,P02545,Q96RR1,P35251,Q99720,P09651,Q86U42,Q96TA2,O95831,Q8IY17,P00846,Q9Y6X9,Q5T440,P46100,P16219,P53007,P54098,Q15043,P35240,O15121,P51608,Q9NVI7,P43243 26 |
| Neoplasm by histology 0.2255145340718245 0.3774087910738727 0.7058698347824341 1.0 0.9452569853419648 101 P62913,Q96GM5,Q9BYW2,P51532,P48735,Q96T58,Q01831,Q92804,P02545,O60832,P35240 11 |
| Hypoplasia of the vagina 0.4127786032689471 0.3771931783248236 0.7060300494517706 1.0 0.9452569853419648 2 Q8IY37 1 |
| Female external genitalia in individual with 46 xy karyotype 0.4127786032689471 0.3771931783248236 0.7060300494517706 1.0 0.9452569853419648 2 Q8IY37 1 |
| Abnormal sex determination 0.4127786032689471 0.3771931783248236 0.7060300494517706 1.0 0.9452569853419648 2 Q8IY37 1 |
| Gonadoblastoma 0.4127786032689471 0.3771931783248236 0.7060300494517706 1.0 0.9452569853419648 2 Q8IY37 1 |
| Ovarian gonadoblastoma 0.4127786032689471 0.3771931783248236 0.7060300494517706 1.0 0.9452569853419648 2 Q8IY37 1 |
| Abnormal phalangeal joint morphology of the hand 0.2578989913056992 0.3768234664377188 0.70630480039428 1.0 0.9452569853419648 37 Q15022,Q9Y6X9,Q9BYW2,Q96T58,P02545 5 |
| Retinal fold 0.4124814264487389 0.3761556757964455 0.706801165197116 1.0 0.9452569853419648 2 P35222 1 |
| Autosomal dominant germline de novo mutation 0.4651014424128541 0.3750516617435711 0.7076220456617284 1.0 0.9452569853419648 3 P24928 1 |
| Porencephalic cyst 0.413051343405678 0.3745364383367753 0.7080052521409219 1.0 0.9452569853419648 6 P55265,P07942,Q9Y3Z3 3 |
| Abnormality of finger 0.2224069400007919 0.3739045582713856 0.7084753250218836 1.0 0.9452569853419648 289 P62913,Q15427,Q03252,Q03164,Q12768,Q9ULC3,Q9BYW2,Q8WWQ0,P61313,Q96J42,P63000,P02545,O14646,O96028,Q06136,P23786,Q14669,Q7Z5J4,Q9Y4W2,Q14807,O00459,Q9Y4A5,Q15067,P51532,Q9UIG0,O75367,O14497,O95831,Q04721,O15078,P55011,Q9H2P0,Q9UQE7,Q8IY17,P18583,P62266,P55795,Q15022,P42356,Q9UBM7,Q69YQ0,Q9Y6X9,Q9BXW9,Q14739,O60341,Q15643,P46100,Q8TAQ2,Q14683,Q6KC79,Q15233,Q9Y2U8,Q14839,Q9UGU0,Q96GM5,P98175,P51608,Q6ZRS2,Q96T58,Q99567,O60281,Q5H8A4,Q9Y4P3,Q68CP9,Q8WVM7 65 |
| Short chin 0.341329211162687 0.3732793626182996 0.7089405345036535 1.0 0.9452569853419648 11 O60281 1 |
| Cerebral hypoplasia 0.3215688960656154 0.3729538084547346 0.7091828230846766 1.0 0.9452569853419648 14 Q9UBM7 1 |
| Spastic paraparetic gait 0.4334313955692246 0.3727345350396327 0.7093460304674906 1.0 0.9452569853419648 5 O75787,Q15043 2 |
| Dysphasia 0.2931303395583572 0.3722734203110236 0.7096892862579676 1.0 0.9452569853419648 20 Q7Z5J4,Q9H9P8,P46100,Q13428,Q9NX14 5 |
| Enlarged thorax 0.3086557503827355 0.3721357282506531 0.7097917962492031 1.0 0.9452569853419648 17 Q14739,Q15643,Q6ZRS2,P02545 4 |
| Biliary cirrhosis 0.3906858486778237 0.3721142844597796 0.709807761352093 1.0 0.9452569853419648 7 P09601 1 |
| Retrognathia 0.2314444080138473 0.3700524798543327 0.7113433882154974 1.0 0.9464049118826676 85 P37268,Q15427,Q12797,P02545,Q6NUK1,Q9Y3B2,O95602,Q96ST3,Q8WYQ5,Q9NX14,Q9H9Y6,Q13724,Q15022,Q86W42,Q8NB90,Q5T440,Q15643,Q13428,P53007,O60934,Q14683,Q5JRA6,Q4J6C6,Q96T58,Q99567,Q8N201,Q68CP9 27 |
| Cystoid macular edema 0.4554438637481571 0.3690812069475203 0.7120671962951031 1.0 0.946798990226166 4 Q6P2Q9,P04439 2 |
| Feeding difficulties 0.2118218599234561 0.3666764214190766 0.7138603963255239 1.0 0.9481119063845188 354 Q03164,P20700,P00374,P53597,Q9NQT5,Q14669,Q99720,O43819,Q9UHB7,O95831,Q96F86,P82930,P55011,Q9UQE7,Q9NX14,Q9NPL8,P55795,Q9UBM7,P42356,Q8NB90,O60341,Q5T440,Q8TAQ2,P16219,Q6KC79,Q9UGU0,O15121,P51608,P61978,P30038,Q96T58,Q9NUQ7,Q8N5K1,O60281,Q12768,P63000,P23786,P49748,Q7Z5J4,Q9Y4A5,P51532,O14497,Q9H2P0,P55201,P08754,P09622,P09543,Q13724,Q9NP81,P46100,Q12959,Q9NZJ7,Q96JM3,Q8TD30,Q96N66,Q4G176,Q4J6C6,Q8TCJ2,P22695,O14936,P37268,P31040,Q9H0U9,Q9BYW2,Q96F07,P02545,Q9H936,Q6NUK1,O60216,P24928,P50747,Q96ST3,Q8NI27,Q9H490,Q15022,Q969Y2,Q14683,Q96JX3,Q96GM5,Q5H8A4,Q68CP9,Q8WVM7,P35658,Q7Z3K3,P18583,P53007,Q15233,Q16836,Q9NVI7,Q6PJT7,Q6ZRS2,Q7L2E3 92 |
| Esophageal atresia 0.3890675807245767 0.3657950746669395 0.7145179954060523 1.0 0.9487119697067689 7 Q96GM5,Q9BXW9,P23229 3 |
| Abnormality of urine calcium concentration 0.3230353324284958 0.3618193076301401 0.7174870629179884 1.0 0.9500616615049914 13 O43709,Q6P1J9,Q9UIG0,Q9UNF1,Q969N2,P29992,Q9Y4P3,O00443 8 |
| Abnormality of the chin 0.2311715871674557 0.3611522606438592 0.717985627499558 1.0 0.9500616615049914 80 P20700,Q9BYW2,P32322,P02545,O14646,Q7Z5J4,Q9UIG0,Q04721,Q7Z3K3,P55011,Q9H490,Q15022,Q86W42,Q69YQ0,Q96JM3,Q06787,Q9NVI7,Q96T58,P11233,O60281,Q9Y4P3 21 |
| Epiphyseal stippling 0.3309060872244395 0.3601144074783707 0.7187615789870776 1.0 0.950513734690312 12 Q9UBM7 1 |
| Subcortical cerebral atrophy 0.4523933770702044 0.3593669845561624 0.7193205698506304 1.0 0.9505680082683132 4 Q9Y4I1 1 |
| Accessory spleen 0.3596481008858178 0.3592324398279703 0.7194212105961268 1.0 0.9505680082683132 9 Q96J42 1 |
| Dysphagia 0.2226127963759554 0.358215377039254 0.7201821405599476 1.0 0.950887399321638 143 Q03164,P20700,P48735,P29372,Q96RR1,Q99720,O43819,O00567,Q86U42,P55011,Q9H2P0,P18583,P02792,P00846,Q69YQ0,Q14739,Q12959,Q96JM3,P53007,Q14683,P54098,Q06787,P35240,Q15233,P51608,P43243,Q96T58 27 |
| Abnormal cranial nerve morphology 0.2455089805504782 0.3579322795745329 0.7203939933078234 1.0 0.950887399321638 67 Q14692,P09651,O43819,Q86U42,P51608,Q96TA2,P22626,P16219,P53007,Q96RR1,P54098,Q15043,P35240 13 |
| Hyperreflexia in upper limbs 0.3732577742179425 0.3578066665358398 0.7204880012647465 1.0 0.950887399321638 8 O94905,P31040,P54886,Q8WVX9,P02792 5 |
| Slender long bone 0.3184526112900123 0.3566514764984446 0.7213527356909342 1.0 0.9514838659614324 14 P37268,P18583,Q9H490 3 |
| Distal amyotrophy 0.252298361916679 0.3561222831410435 0.7217489902034284 1.0 0.9517342233517748 58 Q99720,Q9Y6X9,O15269,Q5T440,P43243,Q8N2K0,P02545,P53007,Q8IY17,P54098 10 |
| Pelvic kidney 0.3584545413377371 0.3540705141984439 0.7232860388091047 1.0 0.9523989257097892 9 Q9BXW9,Q9UIG0 2 |
| Fluctuations in consciousness 0.3854166666666688 0.3516806696109326 0.7250777590468167 1.0 0.9539407731751784 7 P04062,Q9UJS0,O43819,O75306,P00403,Q9BU61 6 |
| Abnormal vagina morphology 0.2895745018984288 0.3505261073047886 0.7259439006414401 1.0 0.9548078122559313 20 Q9UBM7,Q13428 2 |
| Pain in head and neck region 0.3713130850290468 0.3498889606093244 0.7264220321868851 1.0 0.9551641666804164 8 P29992,Q92560,Q15043,P35240 4 |
| Hypochromic anemia 0.3286793833228058 0.3492244315560224 0.7269208257398154 1.0 0.9555474783748358 12 Q9Y4L1,Q9UER7,P46100,Q15046,O75533 5 |
| Aplasia of the fingers 0.2676868240959971 0.3485752815999677 0.7274081875695522 1.0 0.9556145541181712 28 P62913,Q15427,P02545,P18583,Q6KC79 5 |
| Abnormal iris pigmentation 0.2841834868525178 0.3445749527263764 0.7304139386516681 1.0 0.9559691183706016 22 Q9Y4I1,Q9UIG0,Q96T58 3 |
| Overlapping toe 0.2838316520888178 0.3423814382910357 0.7320638554439118 1.0 0.9561614008947796 22 Q15427,Q9UBM7 2 |
| Abnormal aortic valve cusp morphology 0.2759949570947653 0.3422777850182825 0.7321418520472565 1.0 0.9561614008947796 25 P37268,Q7Z5J4,P61978,P24468,Q9UIG0,P63000,Q9UQE7,Q9Y4P3 8 |
| Optic atrophy 0.2160060941089633 0.3415040861611923 0.7327241292593456 1.0 0.9561659637065524 203 Q12768,Q9ULC3,Q9Y4I1,O43395,Q01831,Q6ZXV5,Q8N2K0,Q96J42,O96028,P55265,Q96RR1,Q8WWY3,P35251,O43819,O43292,Q9H9P8,Q15067,Q96TA2,Q9UHB7,O15078,Q7Z3K3,P82930,O94906,Q8IY17,P18583,Q9H490,P00846,Q13724,Q96PU5,Q9UBM7,Q5T440,O43678,P46100,P51572,P16219,P54098,Q15043,Q6KC79,Q96JX3,O95299,Q9NVI7,P98175,Q96T58,Q8TCJ2,Q8N5K1,P07942,O60832,Q5H8A4 48 |
| Recurrent cutaneous abscess formation 0.4539239001188932 0.340800764057633 0.7332535752248772 1.0 0.9561659637065524 3 P49459,P49768 2 |
| Profound sensorineural hearing impairment 0.4464423679370102 0.3407298412744728 0.7333069714405291 1.0 0.9561659637065524 4 P55011 1 |
| Meningocele 0.3690129480626737 0.3406031349623633 0.7334023690694551 1.0 0.9561659637065524 8 Q96ST3,P21333,O75845,O15078 4 |
| Involuntary movements 0.2135250414923288 0.3403268541497676 0.7336103961411693 1.0 0.9561659637065524 342 Q9BWD1,Q9NQH7,Q03164,P20700,P00374,Q9Y4I1,Q9H0U9,Q9BYW2,Q8WWQ0,P53597,P22626,Q8N2K0,Q96KR1,O14646,O96028,Q8NC56,Q96RR1,Q4G0N4,Q9NQT5,Q9UBX3,P35658,P35251,Q99720,P09651,O00567,O43292,O43819,Q9UIG0,O95831,Q96F86,Q7Z3K3,Q9H2P0,P82930,Q5T8D3,P55011,Q8IY17,Q9NPL8,P02792,P00846,P55795,Q9Y6X9,Q96N67,Q8NB90,O60341,O75477,Q96JM3,Q8TD30,P11166,Q14683,P54098,Q15043,Q06787,P35240,Q15233,Q9Y2U8,Q96N66,P51608,Q6PJT7,Q96T58,Q9NUQ7,Q68CP9,Q7L2E3 62 |
| Abnormality iris morphology 0.2288925498995041 0.3398481710324106 0.733970869375818 1.0 0.9561659637065524 85 Q9P273,Q9BXW9,Q9UBM7,Q9Y4I1,Q9UIG0,Q96T58,Q13428,Q12797,Q04721,Q96J42,Q9H2P0,O96028,Q5H8A4,Q9NX14,Q8IY17,Q9Y4P3,Q7Z3K3 17 |
| Eeg with focal epileptiform discharges 0.2500016558861412 0.338929267771932 0.7346630155139116 1.0 0.9561659637065524 45 Q9UBX3,Q96N67,Q96N66,Q8NB90,P51608,Q6PJT7,Q9NUQ7,Q96F86,P55011,P11166,Q5H8A4 11 |
| Prominent superficial blood vessels 0.3264816629596195 0.3385787522315321 0.7349270914098569 1.0 0.9561659637065524 12 P54886,P32322,P02545,Q8NC56,Q6NUK1 5 |
| Abnormal eyelid physiology 0.3685057896168925 0.3385673903904482 0.7349356518640822 1.0 0.9561659637065524 8 Q13428 1 |
| Abnormal lower motor neuron morphology 0.3406367711097519 0.3370392911310471 0.7360872810942118 1.0 0.9566348286345392 10 Q99720 1 |
| Abnormal circulating follicle stimulating hormone concentration 0.354236583420469 0.33602569165939 0.7368514926514895 1.0 0.9566348286345392 9 Q92560,P35240,Q9UJA3 3 |
| Substantia nigra gliosis 0.4005943536404178 0.3357399902195831 0.7370669466346922 1.0 0.9566348286345392 2 Q99700 1 |
| Supranuclear ophthalmoplegia 0.4005943536404178 0.3357399902195831 0.7370669466346922 1.0 0.9566348286345392 2 Q99700 1 |
| Abnormal circulating tyrosine concentration 0.3997028231797938 0.3327965627512795 0.7392878530200233 1.0 0.9566348286345392 2 Q9UJS0 1 |
| Urinary urgency 0.3534480540994261 0.3326870490012547 0.7393705266100736 1.0 0.9566348286345392 9 Q8WVX9,Q12768,P20700 3 |
| Abnormal circulating lipid concentration 0.2285279570064713 0.3317405085296614 0.7400852097944268 1.0 0.9566348286345392 82 Q16836,P49748,P37268,Q7L590,O43772,Q9UBM7,P11310,Q14739,Q9Y4I1,Q9UIG0,P50402,P16219,P02545,Q4G0N4,P23786 15 |
| Cleft hard palate 0.399108469539378 0.3308412712271814 0.7407643847445384 1.0 0.9566348286345392 2 Q96PY6 1 |
| Agenesis of central incisor 0.399108469539378 0.3308412712271814 0.7407643847445384 1.0 0.9566348286345392 2 Q96PY6 1 |
| Bone pain 0.2841441968898121 0.33035444782247 0.7411321565326705 1.0 0.9566348286345392 21 Q14980,P48735 2 |
| Distal upper limb amyotrophy 0.3321235301988093 0.329885595762339 0.7414864077470749 1.0 0.9566348286345392 11 Q14315,P07196,P43243,O60568 4 |
| Unilateral renal agenesis 0.2913452848722552 0.3294305926256879 0.7418302475029157 1.0 0.9566348286345392 19 Q15427,Q15058,Q9UBM7 3 |
| Abnormal circulating copper concentration 0.4004459668566221 0.3294069229851837 0.7418481357430986 1.0 0.9566348286345392 6 Q8NB90 1 |
| Abnormal levels of alpha fetoprotein 0.4001785182981379 0.3284736888221855 0.7425535349549461 1.0 0.9566348286345392 6 Q9UJS0,Q01968,P35222,Q15149,P23229 5 |
| Ovarian neoplasm 0.2856789569416558 0.3271528407551407 0.7435522875531209 1.0 0.9566348286345392 20 P48735 1 |
| Cardiomegaly 0.2524277872094403 0.3266378211905266 0.7439418340555564 1.0 0.9566348286345392 35 P14923,P49748,Q13724,P11310,Q14739,Q15233,Q9UIG0,P55265,Q9Y4P3,P23786 10 |
| Atrioventricular canal defect 0.3238045718618415 0.3257522093064852 0.7446118394908083 1.0 0.9566348286345392 12 Q9UBM7,Q12768,P24468,P17252,P19022 5 |
| Reduced tendon reflexes 0.2090943267686866 0.3256735676873508 0.7446713447839572 1.0 0.9566348286345392 175 P11310,Q9H0U9,O15269,Q9NYY8,P53597,Q01831,Q8N2K0,P50402,P02545,Q96RR1,P35251,Q99720,O43819,P51649,Q9Y3B2,Q96AY3,O14979,O95831,P35610,Q8IY17,P00846,Q9Y6X9,Q5T440,O75477,O75787,P53007,P54098,Q06787,P61978,O60832,O00764,Q5H8A4 32 |
| Cerebral cortical atrophy 0.2213755347390144 0.3255782388133914 0.7447434787678415 1.0 0.9566348286345392 107 P00846,Q06787,Q69YQ0,Q8NB90,Q9UGU0,P51608,Q9Y4I1,Q9UIG0,P46100,P51572,Q96T58,Q01831,Q7Z3K3,O60832,Q96RR1,Q14683,Q6KC79 17 |
| Postaxial foot polydactyly 0.3235594901969747 0.3245858572796941 0.745494532416568 1.0 0.9566348286345392 12 Q9UBM7,Q96J42 2 |
| Abnormality of the 5th toe 0.3235594901969747 0.3245858572796941 0.745494532416568 1.0 0.9566348286345392 12 Q9UBM7,Q96J42 2 |
| Abnormal anterior chamber morphology 0.4411286119321821 0.3244496429399816 0.7455976409786547 1.0 0.9566348286345392 4 Q6ZRS2 1 |
| Increased head circumference 0.2232825183419769 0.3239060599386074 0.7460091559525313 1.0 0.9566348286345392 125 Q12768,P11310,Q9BYW2,P02545,P63000,O14646,Q14669,P49748,P10412,Q9H9P8,O00459,Q96TA2,O75367,Q04721,P55011,P08754,P18583,Q15022,Q14739,O60341,Q15643,Q9NZJ7,P53007,P11166,Q14683,Q06787,Q15233,Q14839,Q9UGU0,P51608,P07942 31 |
| Hypocalciuria 0.3964338781575058 0.3221122706254996 0.7473676426854332 1.0 0.9570457868832908 2 P29992 1 |
| Hypermagnesemia 0.3964338781575058 0.3221122706254996 0.7473676426854332 1.0 0.9570457868832908 2 P29992 1 |
| Multiple prenatal fractures 0.3640865924701206 0.3210111962024973 0.7482019062341771 1.0 0.9571143955164988 8 Q14739,Q32P28 2 |
| Aphasia 0.2480233796459874 0.3188594036609741 0.7498331298391865 1.0 0.957341457659258 41 Q7Z5J4,Q14669,P09651,Q9UGU0,P46100,Q13428,P22626,P55011,Q9NX14,P35240 10 |
| Paranoia 0.3972564211517645 0.3183456176204057 0.7502227848550265 1.0 0.9575102542031206 6 P50336,P29218,P36551 3 |
| Gait imbalance 0.2796196801432101 0.3164504804179146 0.7516606061673179 1.0 0.9585354960975844 22 Q14839,O15269,Q9UIG0,Q96T58,Q5H8A4 5 |
| Sinus tachycardia 0.3628582877480382 0.3161906852913259 0.7518577774162398 1.0 0.9585354960975844 8 Q02978,P31040,O75531,P40926 4 |
| Abnormal pericardium morphology 0.3357712279600703 0.3153373433929519 0.7525055343019447 1.0 0.9588309875986636 10 P49748,P02545 2 |
| Functional abnormality of male internal genitalia 0.2594979402142302 0.3148746384624309 0.7528568384259229 1.0 0.958853371147066 29 Q9BXW9,P51608,Q9UIG0,Q8WWQ0,Q14697,O76024,Q8N5K1,Q9Y4P3,Q9UJA3 9 |
| Specific learning disability 0.2376447616461531 0.3145777342984882 0.7530822869288012 1.0 0.958853371147066 70 P62266,Q9Y2U8,Q9Y4W2,Q9Y6X9,P09651,Q9BYW2,Q9Y4I1,P22626,Q9NX14,Q9BVA1,Q96RR1,P11166,Q14683,Q06787 14 |
| Delayed eruption of permanent teeth 0.4378164841757545 0.3144795075151416 0.7531568781961968 1.0 0.958853371147066 4 Q9BYW2 1 |
| Writer s cramp 0.4373786298526805 0.3131718637214346 0.7541500935064658 1.0 0.9590908170690584 4 P02792 1 |
| Urinary incontinence 0.247729649902492 0.3128773868162722 0.7543738183714546 1.0 0.9590908170690584 47 Q9Y6X9,Q99720,P51608,Q9H2P0,P11166,Q06787 6 |
| Anencephaly 0.3052103742842162 0.3079007000112612 0.7581578931209669 1.0 0.9623094403325048 15 Q15427 1 |
| Downslanted palpebral fissures 0.2205454828217067 0.307011856006167 0.7588343479568154 1.0 0.9629029298323476 138 Q15427,Q03164,Q12768,Q9BYW2,P32322,Q12797,P02545,O14646,O96028,Q14669,Q7Z5J4,Q9UHB7,O95602,Q04721,P55011,P55201,Q9H2P0,P18583,Q15022,Q9UBM7,Q69YQ0,O60341,Q13428,Q14683,Q15233,Q9UGU0,P61978,P51608,Q96T58,Q5H8A4,Q68CP9 31 |
| Abnormality of the autonomic nervous system 0.2478109656333467 0.3057440111188529 0.759799560825648 1.0 0.9634972887213926 51 Q9BXW9,Q15427,O60216,P35251,P20700,Q9UBM7,Q9H0U9,Q9BYW2,O15269,Q15067,P46100,Q9NZJ7,P51608,O15078,Q8N5K1,Q96RR1,Q14683,Q06787 18 |
| Aplasia hypoplasia of the earlobes 0.3933001554534185 0.3048358013893068 0.760491212857058 1.0 0.9634972887213926 6 P10586 1 |
| Abnormal left ventricle morphology 0.2579253746180638 0.3040330061385574 0.7611027453993935 1.0 0.9634972887213926 29 Q13724,P31040,P78536,O75787,Q969Y2,Q96RR1,P54098,Q8N1G0,Q15233 9 |
| Abnormal lung lobation 0.3262739726109442 0.3032082126794284 0.7617311906335256 1.0 0.9634972887213926 11 Q9UBM7 1 |
| Hamartomatous polyposis 0.4408442330558758 0.3026259222057899 0.7621749572024321 1.0 0.9634972887213926 3 P21912,Q15437 2 |
| Trigonocephaly 0.3108461268148252 0.301362566319251 0.7631380359547133 1.0 0.9634972887213926 13 Q9H2P0,Q03252,P20700,Q14839 4 |
| Aplasia hypoplasia of the humerus 0.3457415128052361 0.300656876072648 0.763676155963199 1.0 0.9634972887213926 9 O00116,O14802,O75369,O15228,P36776,P53597,P21333,Q9Y5S9 8 |
| Abnormality of chromosome stability 0.3037359788167924 0.3004367842646563 0.763844009067091 1.0 0.9634972887213926 15 Q9BXW9,P35240,O60934,Q92560,Q9NRZ9,Q06787 6 |
| Peripheral neuropathy 0.2068113220060683 0.2991170845976357 0.7648507110876146 1.0 0.9634972887213926 172 P31040,P18887,O15269,O75251,Q01831,P22626,Q8N2K0,Q96KR1,P55265,Q96RR1,Q9Y4W6,Q7Z5J4,O60216,P35251,P09651,O43819,Q15067,P50336,O95831,Q04721,Q9UQE7,Q8IY17,Q9NPL8,P36551,P00846,Q9Y6X9,O60318,Q5T440,O43678,P34897,Q9NZJ7,Q02809,Q15046,P53007,Q14683,P54098,Q6KC79,Q06787,P35240,Q7Z406,Q16836,O95299,O15121,Q9NVI7,P30038,P54886,Q8N5K1,Q9BU61 48 |
| Perimembranous ventricular septal defect 0.3913770992673947 0.2983548845960397 0.7654323187039358 1.0 0.9634972887213926 6 Q86W42,P46100 2 |
| Prominent supraorbital ridges 0.31727901997904 0.2951628197386338 0.7678695028883773 1.0 0.964787324962006 12 Q15022,P38159 2 |
| Cerebellar cyst 0.2462560884972522 0.2946800577650762 0.7682382986630976 1.0 0.964787324962006 39 Q9UBM7,Q12768,Q96GM5,Q9NQT5,P51532,Q8TAQ2,O14497,Q99567,Q96J42,Q68CP9,P23786 11 |
| Iron accumulation in brain 0.437984558632539 0.2945670865688901 0.7683246081919508 1.0 0.964787324962006 3 P02792 1 |
| Punctate cataract 0.431029716011215 0.2944885343435996 0.7683846234616878 1.0 0.964787324962006 4 P08670 1 |
| Abnormal shoulder morphology 0.2530248317970774 0.293713365841007 0.768976940108631 1.0 0.96489993716464 30 Q14669,Q96PU5,Q9UGU0,Q9UIG0,Q6ZXV5,P02545,P55011 7 |
| Narrow face 0.2475070681055149 0.2927523517539767 0.7697114510743668 1.0 0.965017620193862 36 Q9UGU0,Q9BYW2,Q15643,P02545,Q06787 5 |
| Abnormal anatomic location of the heart 0.308078042109509 0.2881368698976024 0.773241970732556 1.0 0.9663024475835172 13 Q96J42,O15078,Q6ZRS2,P02545 4 |
| Coma 0.2459356637011941 0.2880208166916665 0.7733308041316025 1.0 0.9663024475835172 38 P11310,O43772,P35610 3 |
| Abnormal distal phalanx morphology of finger 0.2456231077849922 0.2874903324856719 0.7737369032187891 1.0 0.9663024475835172 51 Q9Y2U8,P51608,P51532,O75367,P02545 5 |
| Hypokinesia 0.3077935125165004 0.2867885338814656 0.7742742429686478 1.0 0.9663024475835172 13 Q96RR1,O95831,P54098 3 |
| Skin erosion 0.3678455673390146 0.2866836140491169 0.7743545852814324 1.0 0.9663024475835172 7 P02545 1 |
| Pulmonary edema 0.4351433930082656 0.2866658628872326 0.7743681784644254 1.0 0.9663024475835172 3 Q13724 1 |
| Red eye 0.2786354668718913 0.2861675319185822 0.7747498100957855 1.0 0.9663024475835172 20 Q01831,O60832 2 |
| Hepatic necrosis 0.3550217396813662 0.2860648417819333 0.7748284589831445 1.0 0.9663024475835172 8 Q16836,P49748 2 |
| Restrictive cardiomyopathy 0.4348720208094324 0.2859167342207782 0.7749418964866617 1.0 0.9663024475835172 3 Q7L590 1 |
| Progressive leukoencephalopathy 0.4348273949144648 0.2857936366476195 0.7750361821713321 1.0 0.9663024475835172 3 Q5JTZ9 1 |
| Anorectal anomaly 0.2320085249734136 0.2845940863407625 0.7759551423995821 1.0 0.9663024475835172 72 Q9NPE3,P31040,Q12768,P29372,Q6NUK1,P49748,P78536,Q9UIG0,Q96ST3,Q9NX14,Q9BXW9,Q86W42,Q69YQ0,Q15022,Q13428,O60934,Q14839,Q96T58,O60832,Q9Y4P3 20 |
| Abnormality of the shoulder girdle musculature 0.247915138497149 0.2845383852128214 0.7759978219576991 1.0 0.9663024475835172 34 P43243,O14979,P50402,P02545,P54098 5 |
| Osteolysis involving bones of the upper limbs 0.3408382601841117 0.2808666609513124 0.7788126724525284 1.0 0.9681363791737068 9 P02545 1 |
| Clonus 0.2484333721007044 0.2806419087937112 0.7789850686729172 1.0 0.9681363791737068 33 Q99720,Q12768,P20700,O60341,O75477,O75787,Q9NZJ7,Q15043 8 |
| Blue sclerae 0.268825924644855 0.280104056432136 0.7793976726473306 1.0 0.9681363791737068 24 P62266,O60341,Q9Y3B2,Q96AY3,Q02809,P32322,O75718,P18583 8 |
| Coarse facial features 0.2410357097085766 0.2799751287010065 0.7794965865284214 1.0 0.9681363791737068 63 Q9BYW2,P38159,Q9UIG0,P51532,Q9UHB7,O14497,O95831,Q04721,P82930,Q9H2P0,P46100,Q8TAQ2,Q06787,Q14839,P61978,Q96GM5,Q96T58,Q9Y4P3,Q68CP9 19 |
| Granulocytopenia 0.4258102884329563 0.2795264015239224 0.7798408796781695 1.0 0.9681363791737068 4 Q9Y4L1,P62857,O75533 3 |
| Localized osteoporosis 0.3824665676077284 0.2784448949568341 0.7806708603586823 1.0 0.9681363791737068 2 P57740 1 |
| Osteolysis 0.2541407084746707 0.278413325472419 0.7806950914902191 1.0 0.9681363791737068 29 P48735 1 |
| Sandal gap 0.2629536931002572 0.2766035700873219 0.7820845230891686 1.0 0.968473620826868 26 Q7Z5J4,Q14669,Q15022,P11274,Q14739,Q9H2P0,Q92925 7 |
| Primary microcephaly 0.3023802637083654 0.2763258754109694 0.7822977836048246 1.0 0.968473620826868 14 Q8NB90 1 |
| Abnormality of the forehead 0.2150744670113268 0.2759950145992245 0.7825518953535973 1.0 0.968473620826868 317 Q03164,P20700,P29372,P32322,Q8NC56,Q14669,O43292,O00459,Q9UHB7,O95831,Q04721,P55011,Q9UQE7,Q9UBM7,O60341,O75787,Q13428,Q8TAQ2,P11166,Q6KC79,Q9UGU0,P61978,P98175,Q96T58,O60281,Q9Y4P3,Q12768,Q8WWQ0,P61313,Q96J42,Q8ND04,P23786,Q7Z5J4,Q9Y4A5,Q15067,P51532,O14497,O15078,Q9H2P0,P55201,P11171,P36551,Q86W42,Q15643,P46100,Q9ULH0,Q8TD30,P19022,O60934,Q06787,Q9Y2U8,Q4J6C6,Q8N201,O14936,P62913,Q15058,Q9BYW2,Q92643,Q96F07,O14646,O96028,Q9H936,Q6NUK1,O60216,P24928,Q9UIG0,Q96ST3,Q8NI27,Q96LT9,Q9H9Y6,Q9H490,Q15022,Q69YQ0,Q14739,Q00839,Q14683,Q96GM5,P11233,Q5H8A4,Q68CP9,Q9Y3B2,P18583,Q9BXW9,Q96N67,P53007,Q15233,Q9NVI7 87 |
| Abnormal stomach morphology 0.2234203194288763 0.2746685400831936 0.7835709032147309 1.0 0.9687521936341242 82 Q8WUM0,P31040,O76024,Q6ZXV5,O60885,P23229,O60216,Q9UIG0,P51610,Q9UQE7,O96011,Q96PU5,Q9UBM7,Q69YQ0,P11274,Q14739,P35222,O60488,O14965,Q9BZI7,Q14683,O95155,Q6KC79,P51608,P50454,P54886,Q96T58,Q07812,P21333,Q8N5K1,Q92560,Q9Y4P3 32 |
| Hyperpigmentation of the skin 0.2208591817702847 0.2743343401302252 0.7838276968015798 1.0 0.9687521936341242 94 Q9NPE3,P31040,Q9Y4I1,Q9BYW2,Q8WWQ0,Q01831,P02545,Q8ND04,P55265,Q06136,Q14669,Q9NW13,P50336,P55011,Q9NX14,P36551,Q9BXW9,Q6P1M0,Q99828,Q14739,O60934,P35240,P40818,Q9Y2U8,Q9UGU0,O60832 26 |
| Coxa valga 0.2701248025928719 0.2733890093031283 0.784554200411768 1.0 0.9690487047692964 23 Q9ULC3,Q15643,P46100 3 |
| Pulmonary fibrosis 0.2763429969777556 0.2732016333537339 0.7846982244910592 1.0 0.9690487047692964 20 P09601 1 |
| Limitation of knee mobility 0.4231848052282831 0.2721389989162555 0.7855151439228834 1.0 0.9695381026732242 4 P21333 1 |
| Oligomenorrhea 0.4019680765016323 0.2712308095946269 0.786213518172137 1.0 0.9701403422841413 5 P40818,Q8N5K1 2 |
| Abnormally ossified vertebrae 0.4013190817883911 0.2692842810676417 0.7877109274609613 1.0 0.971570359970977 5 Q15643 1 |
| Laryngomalacia 0.3039204519131783 0.268645685787884 0.7882023520212833 1.0 0.971570359970977 13 Q9UHB7 1 |
| Abnormal posterior segment imaging 0.4217990268350046 0.2682778351739308 0.7884854660370602 1.0 0.971570359970977 4 Q8WWY3,P04439 2 |
| Calcification of the aorta 0.4009518143962011 0.2681855401906603 0.7885565047027143 1.0 0.971570359970977 5 P55265,O75792,P01130,Q9Y3Z3 4 |
| Peripheral axonal degeneration 0.2303515624118894 0.2680810414567523 0.7886369386141856 1.0 0.971570359970977 72 P00846,Q9Y6X9,P09651,O15269,Q5T440,P22626,O95831,P02545,Q96RR1,Q8IY17,P54098 11 |
| Degeneration of the striatum 0.4213554957356073 0.2670476261188902 0.789432491818834 1.0 0.9718987993291576 4 P55265 1 |
| Bowel diverticulosis 0.3498059509974295 0.2666393782404243 0.7897468334679012 1.0 0.9718987993291576 8 Q9Y4P3,Q9UIG0 2 |
| Abnormality of metacarpophalangeal joint 0.4209536199904612 0.2659353049198498 0.790289034398445 1.0 0.9723064981523436 4 Q15233 1 |
| Aplasia hypoplasia involving the vertebral column 0.296684237569971 0.2655741586109009 0.7905671895390463 1.0 0.9723892059164896 15 O95831,Q96HY6 2 |
| Abnormal nasolacrimal system morphology 0.302993897246561 0.2643645479538253 0.7914990266515138 1.0 0.9727567349676032 13 Q9NPE3,Q9UQE7,Q9NX14,Q13428 4 |
| Abnormality of the pubic hair 0.3613393659443158 0.2639377766435944 0.7918278658979017 1.0 0.972901509005684 7 Q8IY37,Q9H7N4,Q8WWQ0 3 |
| Abdominal wall muscle weakness 0.4262782401902399 0.2627032155079038 0.7927793382000274 1.0 0.9735072809217764 3 P36507,A6NHR9 2 |
| Skin plaque 0.3803998347088708 0.2624760960130325 0.7929544121174121 1.0 0.9735072809217764 6 Q06136 1 |
| Abnormal urinary color 0.3801142769636334 0.2615687928341875 0.793653906241927 1.0 0.97387274830403 6 P36551,P23786 2 |
| Narrow nasal ridge 0.3602063448300505 0.2600540686794129 0.7948220671087645 1.0 0.9747618327670668 7 P32322,P02545 2 |
| Restlessness 0.2396525596932889 0.2595599816475681 0.7952032085229876 1.0 0.9749698913007908 42 P09651,P51608,P43243,Q92804,P35610 5 |
| Neurofibromas 0.3599461752039449 0.2591655684781534 0.7955074960691699 1.0 0.9749904805123786 7 Q92560,P35240 2 |
| Pectus excavatum 0.2219242214751339 0.2589899550919938 0.7956429908215983 1.0 0.9749904805123786 83 Q9H490,Q69YQ0,Q03164,P51608,Q9BYW2,Q9UIG0,Q8N201,P02545,Q14683,Q68CP9,Q6KC79,Q06787 12 |
| Hip dysplasia 0.2415622207612054 0.2577665489614266 0.7965870823188286 1.0 0.9751105813833776 49 Q14669,Q9UGU0,Q9NVI7,Q6ZRS2,Q96T58,Q9NUQ7,P02545,P55011,O96028,Q9UQE7,Q14683,Q6KC79 12 |
| Ectopia lentis 0.3221251166159919 0.2570614759148282 0.7971313161824041 1.0 0.9755177508895362 10 Q92560,Q9Y467,Q12797,Q03519,P29992,O75533 6 |
| Joint hypermobility 0.2191665164032946 0.2547084692320999 0.7989482744510963 1.0 0.9774818325954232 94 Q9Y4P3,Q03164,Q8WWQ0,Q6ZXV5,P32322,P02545,Q14669,Q9UIG0,Q04721,P55011,P18583,Q9H490,Q96PU5,Q15022,O60341,Q15643,Q96JM3,Q9UGU0,Q5H8A4,Q7L2E3 20 |
| Astrocytosis 0.3339054118387348 0.2537096692952555 0.799719863415111 1.0 0.977910261300198 9 P00846,P54098 2 |
| Tics 0.3581590796218798 0.2530959741068082 0.800194049821483 1.0 0.977910261300198 7 P11274,Q01082,Q68CP9 3 |
| Abnormality of the umbilical cord 0.3460587342830267 0.2530049535612592 0.8002643853204059 1.0 0.977910261300198 8 Q92925,P02545 2 |
| Weak cry 0.3209090874073532 0.2520649876094988 0.8009908321623631 1.0 0.9781636387466208 10 Q69YQ0,Q6KC79 2 |
| Vascular dilatation 0.2323628709153603 0.251484732861288 0.801439364406527 1.0 0.9782665980406506 69 Q9BYW2,Q6ZXV5,P02545,P55265,Q6NUK1,Q7Z5J4,Q14669,Q9UIG0,Q14697,Q9UHB7,P55011,Q99959,Q96PU5,O60568,P11274,Q02809,Q06787,P61978,Q9UGU0,Q96T58,Q9Y4P3 21 |
| Methylmalonic aciduria 0.3576586504659543 0.2514068744449321 0.8014995533187717 1.0 0.9782665980406506 7 P53597,Q4G176 2 |
| Central nervous system cyst 0.2409868739633695 0.2497502471512129 0.8027804975894328 1.0 0.979311482902166 55 P23786,P00846,Q9UBM7,Q12768,Q96GM5,P51532,Q8TAQ2,O14497,Q99567,Q96J42,O96028,P55265,Q68CP9,Q9NQT5 14 |
| Aplasia hypoplasia affecting the anterior segment of the eye 0.2611616105716428 0.24924759623421 0.803169264401373 1.0 0.9795265367434736 25 Q9BXW9,Q9UIG0,O15078,Q96J42,O96028,Q9Y4P3 6 |
| Paroxysmal ventricular tachycardia 0.4144469824627957 0.2482404080057828 0.8039484035180904 1.0 0.9798259961277968 4 Q99959 1 |
| Abnormal circulating pyruvate family amino acid concentration 0.2679688881509442 0.2481059411942189 0.8040524389048711 1.0 0.9798259961277968 22 P00846,Q99797,O75880,Q7L0Y3,P30038,P08559,P20674,Q15046,P22695,P54098,Q5XKP0 11 |
| Impairment of activities of daily living 0.2398283266067154 0.2461008583309236 0.8056041586567504 1.0 0.9808664013912186 58 Q06787,Q9Y6X9,Q99720,O00567,P51608,Q9H2P0,P11166,P35240 8 |
| Bilateral external ear deformity 0.4198121353675979 0.2459030532051887 0.8057572802751725 1.0 0.9808664013912186 3 P14923 1 |
| Complete duplication of phalanx of hand 0.3748365556468513 0.245045183434096 0.8064214462983847 1.0 0.9814157516989318 6 Q9ULC3,Q9Y2U8 2 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.4130523145506206 0.2445255800924179 0.8068237931015867 1.0 0.9816462618628438 4 Q14807 1 |
| Capitate hamate fusion 0.3702823179791995 0.2431120124295709 0.8079186257645286 1.0 0.9821887035143364 2 P21333 1 |
| Spondylolysis 0.3702823179791995 0.2431120124295709 0.8079186257645286 1.0 0.9821887035143364 2 P21333 1 |
| Abnormality of the calf 0.2344017203997143 0.2422398440450077 0.8085943231500654 1.0 0.9822482432338948 66 Q14807,Q15427,Q9ULC3,Q15643,P46100,Q9UHB7,Q9NUQ7,O95831,Q96HY6 9 |
| Pathologic fracture 0.2842674423288873 0.2422364135567926 0.8085969811437377 1.0 0.9822482432338948 17 P22626,O15269,Q04721,P09651 4 |
| Death in infancy 0.2322168116318371 0.2400727958415695 0.8102738233420237 1.0 0.983507721328786 68 P49411,Q12768,Q9H0U9,Q8WWQ0,P53597,P02545,Q9Y6N7,Q92925,Q6NUK1,O60508,Q5JTZ9,Q4G0N4,P49748,O43819,Q15067,O43678,Q15643,P46100,Q9NZJ7,O75718 20 |
| Abnormality of femur morphology 0.2285721189606831 0.2382136443875596 0.8117153950003699 1.0 0.984220928709023 71 P26373,Q9ULC3,P53597,P02545,Q8NC56,Q96HY6,Q14807,Q96AY3,O95602,O95831,P55011,Q32P28,Q9BXW9,O60568,Q14739,P11274,Q15643,P46100,Q9NZJ7,Q96A33,O75718,O00116,Q14839,Q6ZRS2,Q9NUQ7 25 |
| Pulmonary artery atresia 0.4166423081033769 0.2378812905924732 0.8119731669799317 1.0 0.9842745989422784 3 Q8WYQ5 1 |
| Widow s peak 0.4102068516367164 0.2370330999906242 0.8126311117792144 1.0 0.9845543824710062 4 Q69YQ0 1 |
| Congenital malformation of the left heart 0.3900258320447638 0.2364443264177408 0.8130879035795504 1.0 0.9845902903865844 5 P24468 1 |
| Decreased absent ankle reflexes 0.290491218791224 0.2361537972573315 0.8133133300363995 1.0 0.9846046353644436 15 Q7Z5J4,P07196,O75787,P54886,Q96RR1,P54098 6 |
| Muscular dystrophy 0.250639866881991 0.2357458029132162 0.8136299258101736 1.0 0.984729314251746 28 P09651,P22626,O14979,P02545 4 |
| Aplasia hypoplasia of the eyebrow 0.2354734292975467 0.2337726403106018 0.8151614909588965 1.0 0.9856240112468072 43 Q15427,Q9NVI7,O60341,P62304,P02545,Q02487,P18583,Q8WVM7 8 |
| Ventriculomegaly 0.2060058700869693 0.2337701401743284 0.815163432009463 1.0 0.9856240112468072 184 Q03252,Q12768,P20700,Q15058,Q9BYW2,O14936,Q6ZXV5,Q96F07,Q96J42,P63000,O96028,P55265,Q4G0N4,P23786,Q7Z5J4,O60216,O43819,Q9Y320,P24928,P51532,Q96ST3,O00571,O14497,O15078,Q8NI27,Q9H2P0,Q9UQE7,Q9NX14,Q9NPL8,P18583,P00846,Q9BXW9,Q9UBM7,Q86W42,Q69YQ0,O75787,Q9NZJ7,Q00839,Q8TAQ2,Q9ULH0,Q96JM3,Q9BVA1,P53007,Q14683,Q6KC79,Q14839,Q96GM5,Q96T58,Q99567,O60281,O60832,Q68CP9,Q7L2E3 53 |
| Gastroparesis 0.3404725505601039 0.2331954443032542 0.8156096432655393 1.0 0.9856240112468072 8 Q96RR1,P18583,P54098 3 |
| Hyperesthesia 0.4147530116149402 0.2331680499629094 0.8156309145543237 1.0 0.9856240112468072 3 P35240 1 |
| Sudden loss of visual acuity 0.3664190193164954 0.2324700186813793 0.816172971029897 1.0 0.985791161470518 2 P35222 1 |
| Focal t2 hyperintense brainstem lesion 0.2732974910394067 0.2305758631367525 0.8176443207936317 1.0 0.985791161470518 19 O75489,P28331,Q86Y39,O75306,Q9Y6M9,O75251,O00217,O75380,O96000,O43676,P03886,Q8N183,Q9BU61,Q9NX14,Q9NPL8,P19404,Q96CU9,Q9P032 18 |
| Abnormality of the tarsal bones 0.2603509681312841 0.2301919049635487 0.8179426518798145 1.0 0.985791161470518 24 Q15058,Q14739,P98175,O75787,P02545 5 |
| Microcytic anemia 0.3392270056328308 0.2288647205579486 0.8189740617420993 1.0 0.985791161470518 8 Q9UBX3,P46100 2 |
| Peripheral axonal neuropathy 0.2372317668266823 0.2275887351010119 0.8199659782416049 1.0 0.985791161470518 59 P00846,Q9Y6X9,P09651,O15269,Q5T440,P22626,O95831,Q8IY17,P54098 9 |
| Milia 0.4064636518099633 0.227355799590865 0.8201470871336314 1.0 0.985791161470518 4 P23229 1 |
| X linked dominant inheritance 0.259641596816243 0.2261557609642381 0.8210802768521184 1.0 0.985791161470518 24 Q9Y6K9,P55795,P51608,Q15120,P46100,P08559,O00571,P21333,O60488,Q9NX14,Q14683,O14936,Q06787 13 |
| Myoglobinuria 0.3016097909155801 0.2259543101522911 0.8212369565292867 1.0 0.985791161470518 12 P49748,P23786 2 |
| Colpocephaly 0.3265275052395646 0.225924262934865 0.8212603265591238 1.0 0.985791161470518 9 O14974,O60341,P53701,Q8IY37,Q9NX14 5 |
| Abnormality of the pubic bone 0.3383354503916814 0.2257844170871269 0.8213690975078642 1.0 0.985791161470518 8 O96028 1 |
| Butterfly vertebrae 0.4055557236764271 0.2250394784130678 0.8219485625000669 1.0 0.985791161470518 4 Q9Y2W2,O75845 2 |
| Epidermoid cyst 0.4114149821640841 0.2249658500512288 0.8220058410295714 1.0 0.985791161470518 3 Q9H488,O60716 2 |
| Cutaneous cyst 0.4114149821640841 0.2249658500512288 0.8220058410295714 1.0 0.985791161470518 3 Q9H488,O60716 2 |
| Abnormal femoral head morphology 0.2721334737667872 0.2245974039394085 0.8222924846537061 1.0 0.985791161470518 19 Q9NUQ7,Q14807,O95831 3 |
| Proximal tubulopathy 0.25934789111576 0.2244912698410673 0.8223750592382957 1.0 0.985791161470518 24 P28331,O75251,P49821,Q9Y6M9,P03886,O75380,Q9P032,O75306,Q01968,P38117,Q9NX14,Q9NPL8,Q16134,O96000,P19404,P00403,O75489,O00217,O43676,Q8N183,Q86Y39,Q96CU9,Q9BU61 23 |
| Chordee 0.349410636775896 0.2242451532544713 0.8225665507439417 1.0 0.985791161470518 7 O60341,Q9NX14 2 |
| Horizontal nystagmus 0.2615464240881535 0.2241596212636221 0.8226331015568509 1.0 0.985791161470518 23 O95831 1 |
| Abnormality of muscle size 0.208444341273383 0.2235228130376954 0.8231286299916034 1.0 0.9861286341635374 198 P31040,Q03252,Q12768,P11310,O15269,P53597,P22626,Q8N2K0,P51530,P50402,P02545,Q9Y4W6,Q9NQT5,Q7Z5J4,Q99720,P09651,O43819,O00567,Q9NW13,O00459,P24928,Q9UIG0,P51532,Q92804,Q9UHB7,O14979,O14497,O95831,O15078,Q8IY17,Q9NPL8,Q9NRZ9,Q9Y6X9,O60568,Q5T440,O75477,P46100,P17252,P50995,Q9BVA1,Q96A33,O60934,P53007,P54098,P40818,Q9Y2U8,Q7Z406,Q13148,P61978,Q9NVI7,P51608,Q13126,P43243,P54886,Q99567,Q8WXH0,Q9Y4P3 57 |
| Abnormal thorax morphology 0.2138087631495049 0.2230800836995138 0.8234731787036556 1.0 0.9862851010194472 234 P62913,Q15427,Q03164,Q9BYW2,Q6ZXV5,P32322,P50402,P02545,Q8NC56,O96028,Q96HY6,Q14669,Q14807,O00459,Q9UIG0,Q96AY3,O95831,Q04721,P55011,Q9UQE7,P18583,Q9H490,Q32P28,P55795,Q96PU5,Q9UBM7,Q69YQ0,Q14739,Q15643,O75477,P53007,P11166,Q14683,P54098,Q6KC79,Q06787,Q14839,Q9UGU0,Q9NVI7,P51608,Q6ZRS2,Q96T58,Q8N201,Q5H8A4,Q68CP9 45 |
| Profound global developmental delay 0.2875457110304921 0.2225737243468359 0.8238672884139293 1.0 0.9865008310618736 15 P37268,P46100,Q9H490 3 |
| Abnormal facial expression 0.2374838704782323 0.2213616288149043 0.8248108670908367 1.0 0.9873742137857068 36 Q06787,Q86U42,P51608,O75787,Q96RR1,P54098,Q15043,P02792 8 |
| Aortic root aneurysm 0.2562076205798592 0.2202797359988983 0.8256533009111469 1.0 0.9879780634114432 25 Q9UHB7,Q9UGU0,Q06787 3 |
| Chronic kidney disease 0.2385458362620976 0.2195823249213554 0.8261964581308994 1.0 0.9879780634114432 34 Q9NQH7 1 |
| Gonosomal inheritance 0.2299508712873001 0.219566297271207 0.8262089417532503 1.0 0.9879780634114432 68 P55795,Q9Y4W2,Q06787,O14654,P51608,O75787,P51572,P29372,P46100,P50402,P38159,O95831,O60832,Q9NX14,Q14683,Q15233 16 |
| Incomprehensible speech 0.3613670133729589 0.2189718763719839 0.8266719555351238 1.0 0.9879780634114432 2 Q8WXI9 1 |
| Slurred speech 0.3245353398096683 0.2186265971297243 0.8269409324552475 1.0 0.9879780634114432 9 Q9BYW2,Q9NYY8 2 |
| Temperature instability 0.336130562514685 0.2182374528221973 0.8272441051557855 1.0 0.9879780634114432 8 Q14683,P20700 2 |
| Vascular skin abnormality 0.215244878502452 0.2179245940659002 0.8274878643448598 1.0 0.9879791261882568 121 Q9NPE3,Q15427,Q01831,P32322,P02545,Q8NC56,P55265,Q6NUK1,Q06136,O60216,P78536,P49257,Q9UQE7,Q9NX14,P00846,Q9BXW9,Q9UBM7,Q6P1M0,O60568,Q99828,Q99829,Q14739,P17252,P46100,Q02809,Q14980,Q14683,Q6KC79,P40818,Q9UER7,Q13126,P54886,Q96T58,O60832,Q8WVM7 35 |
| Inappropriate crying 0.3471977067771761 0.2171797013417167 0.8280683031455842 1.0 0.9879791261882568 7 P51608 1 |
| Hypoglycemic coma 0.3357016480185116 0.2167811583007786 0.8283788963052046 1.0 0.9880534830445 8 Q16836,Q16134,P00367 3 |
| Slanting of the palpebral fissure 0.2062911350156336 0.2155504228644106 0.8293382040720079 1.0 0.9886860927778526 190 Q15427,Q03164,P20700,Q12768,Q15058,Q9BYW2,Q8WWQ0,P32322,Q12797,P02545,O14646,O96028,Q14669,Q7Z5J4,Q9Y4A5,Q9UHB7,O95602,O15078,Q04721,P55011,Q9H2P0,P55201,P18583,Q15022,Q9UBM7,Q86W42,Q69YQ0,Q9BXW9,O60341,P46100,Q13428,Q00839,Q9BRT2,Q96JM3,P19022,Q14683,Q15233,Q14839,Q9UGU0,P61978,P51608,Q9NVI7,Q96T58,O60281,Q5H8A4,Q68CP9 46 |
| Disproportionate short trunk short stature 0.3822445880793172 0.2149883474567368 0.8297764035338087 1.0 0.9888239685983008 5 Q15643 1 |
| Diplopia 0.2618729338486395 0.2145019328685621 0.8301556598310982 1.0 0.9888239685983008 22 O00567,P11166,Q9Y4I1,P35240 4 |
| Right ventricular hypertrophy 0.38198951372268 0.2143016389765566 0.8303118400095493 1.0 0.9888239685983008 5 Q969Y2 1 |
| Acantholysis 0.400237882842709 0.2117180256629521 0.8323270244315957 1.0 0.990082781769864 4 P14923,P01889,P16615 3 |
| Generalized neonatal hypotonia 0.345452762908359 0.2116761251820186 0.8323597153765356 1.0 0.990082781769864 7 Q9H2P0 1 |
| Abnormal renal resorption 0.3999405292893351 0.2109856132652693 0.8328984976215048 1.0 0.990082781769864 4 Q9Y276,O15078,Q01968 3 |
| Thick upper lip vermilion 0.3337302768681107 0.2101376562740779 0.8335602361026349 1.0 0.990082781769864 8 Q96GM8,Q86W42,Q9H7D7,P62081,Q9UID3,P41227,O75845 7 |
| Areflexia of lower limbs 0.2587856712246283 0.2089881373694252 0.8344574991584999 1.0 0.990082781769864 23 Q7Z5J4,O75477,O75787,Q96RR1,P54098 5 |
| Abnormal choroid morphology 0.2393191561514971 0.2078444562950173 0.8353504194081547 1.0 0.990082781769864 31 Q9Y6K9,Q12768,P04439,O75695,Q01082,O14936,P53701,O15078,P35222,Q96J42,Q9NX14,Q8IY17,O43505,O96011,Q5XKP0 15 |
| Aplasia of the uterus 0.3441013307515703 0.2074550711033603 0.8356544774142496 1.0 0.990082781769864 7 O96028,Q96GM8 2 |
| Embryonal neoplasm 0.258468658829092 0.2072677895049769 0.8358007281654394 1.0 0.990082781769864 23 Q96GM5,Q9BYW2,P51532,Q8TAQ2,Q68CP9 5 |
| Exaggerated cupid s bow 0.3438776849229909 0.2067600397633704 0.8361972654013663 1.0 0.990082781769864 7 P11233,Q00839 2 |
| Aplasia hypoplasia of the spleen 0.3617987940074985 0.20628681475343 0.836566877346717 1.0 0.990082781769864 6 Q7L590,Q96J42 2 |
| Dilated fourth ventricle 0.2329816165977218 0.2060696407531435 0.8367365129780242 1.0 0.990082781769864 41 Q9UBM7,Q12768,Q96GM5,P51532,Q8TAQ2,O14497,O15078,Q99567,Q96J42,P63000,Q68CP9,O14936,P23786 13 |
| Aplasia hypoplasia of the breasts 0.3210160062088666 0.2059536680553432 0.8368271029068093 1.0 0.990082781769864 9 Q8WWQ0 1 |
| Abnormal carotid artery morphology 0.2838546261753462 0.2059457653351985 0.8368332760493045 1.0 0.990082781769864 15 P18583,Q9BXW9,Q9UIG0,P02545 4 |
| Abnormal chorioretinal morphology 0.2396473697510835 0.205588169092608 0.8371126198142531 1.0 0.990082781769864 30 Q9Y6K9,Q12768,P04439,O75695,Q01082,O14936,P53701,O15078,P35222,Q96J42,Q9NX14,Q8IY17,O43505,O96011,Q5XKP0 15 |
| Atonic seizure 0.2556730433430888 0.203998004223936 0.8383550585171518 1.0 0.990082781769864 24 Q96N67,O43292,P30038,O75787,Q96JM3,P11166,O14936 7 |
| Abnormal renal insterstitial morphology 0.2961294789320595 0.2032809209982736 0.8389154670384884 1.0 0.990082781769864 12 Q9UIG0,P23786 2 |
| Hyperparathyroidism 0.3966696402022098 0.2030170935031923 0.8391216717348016 1.0 0.990082781769864 4 P29992,Q6P1J9,Q01968 3 |
| Chronic otitis media 0.2479808211915516 0.2026857682735676 0.8393806475685301 1.0 0.990082781769864 27 O96028,Q9BYW2,Q9UIG0,Q06787 4 |
| Retinal dystrophy 0.2344695655671061 0.2024641960306533 0.8395538461876102 1.0 0.990082781769864 58 Q9Y4I1,O43395,Q8N2K0,Q8WWY3,Q9NQT5,Q15067,O15078,Q7Z3K3,O94906,Q5T8D3,Q9NX14,Q8IY17,O96011,P00846,Q96PY6,O43172,O43837,O75695,Q6P2Q9,Q6P4Q7 20 |
| Broad eyebrow 0.2860718156352382 0.2020814957888234 0.8398530136566573 1.0 0.990082781769864 14 Q8NB90,O14646 2 |
| Arrhinencephaly 0.3195472299967892 0.2007486268147574 0.8408951349127975 1.0 0.990082781769864 9 Q15427 1 |
| Renal hypoplasia aplasia 0.2162504126934028 0.2001822306646429 0.8413380637796477 1.0 0.990082781769864 84 P62913,Q15427,Q15058,Q9BYW2,Q8WWQ0,P61313,Q7Z5J4,O43819,Q9Y4A5,Q9UIG0,Q04721,P18583,Q9BXW9,Q9UBM7,P46100,Q6KC79,Q9Y2U8,Q6ZRS2,Q9Y4P3 19 |
| Short stepped shuffling gait 0.4007134363852459 0.1997660025940736 0.8416635913544759 1.0 0.990082781769864 3 Q14203,Q99700 2 |
| Hypometric saccades 0.4007134363852442 0.1997660025940696 0.841663591354479 1.0 0.990082781769864 3 P49959,O15020 2 |
| Abnormal light and dark adapted electroretinogram 0.3415621263222437 0.1996227304833261 0.8417756492229844 1.0 0.990082781769864 7 P00846,P55265,Q15067 3 |
| Abnormal full field electroretinogram 0.3415621263222437 0.1996227304833261 0.8417756492229844 1.0 0.990082781769864 7 P00846,P55265,Q15067 3 |
| Arterial stenosis 0.2853741006422449 0.1990851001530139 0.8421961762915289 1.0 0.990082781769864 14 Q9UIG0,Q8N1G0,P02545 3 |
| Tapered distal phalanges of finger 0.4001189060642022 0.1984156745085081 0.8427198547509527 1.0 0.990082781769864 3 Q01082,P53634 2 |
| Aplasia hypoplasia of the nasal bone 0.3997289162212434 0.1975327768088444 0.8434106345186394 1.0 0.990082781769864 3 Q6NUK1 1 |
| Prenatal movement abnormality 0.232049249968857 0.1969095278218151 0.8438983375300606 1.0 0.990082781769864 62 Q7Z5J4,O60216,Q9UBM7,P24928,Q4J6C6,Q70HW3,P53007,Q96F07,Q99567,P51530,P02545,O96028,Q9UQE7,Q14683,Q5H8A4,Q6KC79 16 |
| Interstitial cardiac fibrosis 0.3524517087667181 0.1963290983513627 0.8443525873689257 1.0 0.990082781769864 2 Q14315 1 |
| Orthopnea 0.3524517087667181 0.1963290983513627 0.8443525873689257 1.0 0.990082781769864 2 Q14315 1 |
| Pulmonary venous hypertension 0.3524517087667181 0.1963290983513627 0.8443525873689257 1.0 0.990082781769864 2 Q14315 1 |
| Bile duct proliferation 0.3747476408602161 0.1952543427696889 0.8451938382690785 1.0 0.990082781769864 5 O15078,P54098,Q5XKP0 3 |
| Turricephaly 0.3290043768050099 0.194549594552737 0.8457455666373512 1.0 0.990082781769864 8 Q9ULC3,P07237,Q92890,P16435,Q6NUK1 5 |
| Emg abnormality 0.2184179567215919 0.1939659856490577 0.8462025155801902 1.0 0.990082781769864 75 P42166,P42167,P09651,Q14126,O00567,O15269,Q5T440,P43243,P22626,P50402,P02545,P53007,Q96RR1,P54098 14 |
| Abnormality of the ovary 0.2310418871646949 0.193588810845087 0.8464978601041144 1.0 0.990082781769864 63 P40818,O14974,Q03252,Q86W42,O75616,O60318,Q9BYW2,Q9UIG0,Q8WWQ0,P48735,O15078,P02545,O60934,Q96RR1,Q9Y4P3,P54098,Q5JTZ9,Q06787 18 |
| Absent epiphyses 0.3738605340309233 0.1929813606472624 0.8469735657459001 1.0 0.990082781769864 5 Q14807 1 |
| Myotonia 0.3281649003706529 0.1918312268456199 0.8478744097148412 1.0 0.990082781769864 8 Q8WXH0,P50402,P02545 3 |
| Intrinsic hand muscle atrophy 0.3968489892984437 0.1910834480713896 0.848460215228614 1.0 0.990082781769864 3 Q14315,Q9NR77 2 |
| Renal agenesis 0.2335090903089712 0.1905773422639958 0.8488567430754244 1.0 0.990082781769864 53 P62913,Q15427,Q9BXW9,Q15058,Q9UBM7,Q9BYW2,P46100,Q8WWQ0,Q6ZRS2,P18583 10 |
| Primary hyperparathyroidism 0.3965517241379169 0.190424843067891 0.8489762318747944 1.0 0.990082781769864 3 P29992,Q6P1J9 2 |
| Micropenis 0.2292449777049541 0.1903422543390562 0.8490409446681677 1.0 0.990082781769864 65 Q03252,Q9NP72,Q8WWQ0,P09471,Q9H936,P55265,O43505,Q6NUK1,Q96GM8,O14974,Q96ST3,Q8IY37,Q8NI27,Q96T60,Q9NX14,Q8IY17,Q9BXW9,Q86W42,Q9UBM7,P46100,Q96PY6,P19022,Q9Y3Z3,Q14839,Q9NVI7,Q01082,O95470,Q8TCJ2,Q9H7N4,O14936 30 |
| Macrotia 0.2150557606548535 0.18815357452863 0.8507562645857996 1.0 0.990082781769864 84 Q9P273,P37268,Q8WWQ0,P38159,Q8ND04,Q14669,O60216,Q9UIG0,Q96TA2,O95602,Q96ST3,Q8NI27,Q8WVX9,P55011,Q9UQE7,Q15022,O60934,P11166,Q14683,Q06787,Q6KC79,Q9UGU0,P51608,O75530,Q9Y4P3,O14936 26 |
| Abnormally folded helix 0.2795661238221877 0.1871865619698766 0.8515143606149946 1.0 0.990082781769864 15 P62266,Q14683,P23786 3 |
| Low hanging columella 0.2982943569430846 0.1866383729488088 0.8519441780962818 1.0 0.990082781769864 11 P55795,Q6ZRS2,P63000 3 |
| Dysphonia 0.2342419461773991 0.1858464150784189 0.8525652045650944 1.0 0.990082781769864 33 P42356,P20700,Q9UIG0,P53007,Q96RR1,P54098,P02792,Q15233 8 |
| Dysplasia of the femoral head 0.3941736028537372 0.1852039677810148 0.8530690570912607 1.0 0.990082781769864 3 O75431,P38646 2 |
| Talipes equinovarus 0.2159737729184988 0.1851419644064371 0.8531176876904509 1.0 0.990082781769864 76 Q15427,Q9ULC3,Q9BYW2,Q6ZXV5,O96028,Q7Z5J4,P10412,Q96AY3,P55201,Q15022,P42356,O60568,P46100,Q02809,Q9ULH0,Q96A33,P40818,P61978,P98175,O75530,P54886,Q5H8A4 22 |
| Hemiplegia hemiparesis 0.2316909811890388 0.1848484631848516 0.8533478946735422 1.0 0.990082781769864 37 Q9BVA1,P11166,Q8IY17,Q96T58 4 |
| Abnormal brainstem morphology 0.21172891178993 0.1848274103872815 0.8533644078654063 1.0 0.990082781769864 97 P35240,P20700,O43819,O15121,Q9Y320,Q96N67,Q9Y3B2,Q96RR1,Q6ZXV5,O95831,Q7Z3K3,P07942,Q14683,Q9BVA1,Q969Y2,Q9NPL8,O60508,Q06787 18 |
| Bowing of the arm 0.370612730517546 0.1847733099921091 0.8534068429102839 1.0 0.990082781769864 5 Q96L58,P21333,P16435,Q32P28 4 |
| Broad face 0.370612730517542 0.1847733099920992 0.8534068429102917 1.0 0.990082781769864 5 Q7Z5J4,Q6PJG6,P21333,P49459 4 |
| Abnormality of the curvature of the cornea 0.2238811601253477 0.1847464257469637 0.8534279304214132 1.0 0.990082781769864 70 Q9BYW2,O43395,Q8ND04,Q8WWY3,Q6NUK1,Q14669,O14974,P10412,Q9UIG0,O15078,Q7Z3K3,P55011,O94906,Q9H2P0,Q9BXW9,Q02809,Q9ULH0,Q6KC79,O43172,O43837,O75695,Q9UGU0,Q14839,Q8N201,Q9Y4P3 25 |
| Eeg with burst suppression 0.2976144732561597 0.1840550286393979 0.8539702856326445 1.0 0.990082781769864 11 Q13618,Q96F07,P09471,Q9H936,O14936 5 |
| Proportionate short stature 0.2318280974737 0.1837967897171806 0.8541728746711315 1.0 0.990082781769864 36 Q16836,P26373,P31040,Q5JRA6,Q14739,Q15643,P32322,Q9NX14,Q8IY17,P18583,Q96HY6 11 |
| Abnormality of renal excretion 0.3361842085357003 0.1834652241789844 0.8544330027086011 1.0 0.990082781769864 7 P18583,O43772 2 |
| Aspiration 0.2974258141333553 0.1833404241602294 0.8545309180218923 1.0 0.990082781769864 11 Q9H2P0,Q69YQ0,P43243,P29372 4 |
| Abnormality of the kidney 0.2060901196753861 0.1830247139558147 0.8547786272112925 1.0 0.990082781769864 345 Q9NQH7,Q03164,P20700,P53597,O43772,O43819,O00459,Q9UHB7,P09601,Q04721,Q9UQE7,Q9NX14,Q9NPL8,Q8N1G0,P00846,Q9UBM7,Q9BRT2,Q8TAQ2,Q6KC79,P61978,P98175,P30038,Q96T58,Q8N5K1,O60832,Q9Y4P3,Q15427,Q03252,Q12768,Q8WWQ0,P61313,P51530,Q96J42,P23786,Q7Z5J4,Q9Y4A5,P51532,Q14697,O14497,O15078,P36551,Q86W42,Q15643,Q9NP81,P46100,Q86U86,Q15046,Q14980,O14965,O60934,O75718,P40818,Q9Y2U8,Q4J6C6,Q8N201,O14936,P31040,P62913,Q15058,Q9ULC3,Q9BYW2,P02545,O96028,Q9H936,P23229,O60216,P49257,Q9UIG0,P50336,Q8NFH4,Q8IY17,Q16134,Q69YQ0,Q00839,Q14683,Q5JRA6,Q96GM5,P50454,P54886,Q07020,Q07812,Q6UN15,Q92560,Q5H8A4,Q68CP9,Q8WVM7,Q9BU61,O75251,O76024,P06748,Q16822,Q4G0N4,Q7Z3K3,P18583,Q9BXW9,Q14839,Q6ZRS2 97 |
| Flat acetabular roof 0.3529823441715235 0.1818110775122378 0.8557309908169457 1.0 0.9901435575620644 6 Q15643 1 |
| Macule 0.2272299319604084 0.1802276552434234 0.8569738481608749 1.0 0.9901435575620644 66 Q9NPE3,Q14669,Q9BXW9,P35240,Q99828,Q9UGU0,Q15233,Q8WWQ0,Q96T58,Q01831,P02545,P55011,O60832,Q06136 14 |
| Abnormal male reproductive system physiology 0.2306237393334271 0.1801891824915504 0.8570040505598457 1.0 0.9901435575620644 38 Q06787,Q9BXW9,P20700,P51608,Q9UIG0,Q8WWQ0,Q8N5K1,Q9Y4P3,P35240 9 |
| Osteoporosis 0.2242951211024722 0.1790336583361536 0.8579112731163658 1.0 0.9901435575620644 69 P62913,O43292,Q15643,Q9UIG0,Q8WWQ0,Q96AY3,P02545,O96028,O60832,Q5H8A4,P54098 11 |
| Alkalosis 0.3682695019839433 0.1789629064169005 0.8579668278162018 1.0 0.9901435575620644 5 Q9NP81 1 |
| Single transverse palmar crease 0.2297468662066739 0.1788595065784198 0.8580480190624888 1.0 0.9901435575620644 46 P62266,O60281,Q9H2P0,O96028,Q9UQE7,Q8IY17,Q14683,Q8WVM7,Q6KC79 9 |
| Abnormal jaw morphology 0.2119791343998245 0.1759036697412339 0.8603696222712016 1.0 0.9901442335013312 301 Q9NPE3,P37268,P62913,Q15427,Q12768,Q15058,Q9ULC3,Q9BYW2,Q8WWQ0,P32322,P61313,P51530,Q96J42,Q8NC56,Q8ND04,P02545,O96028,Q12797,Q14669,Q7Z5J4,Q9Y4W2,Q9Y4A5,Q9UIG0,Q9Y3B2,Q9UHB7,O95602,O15078,Q04721,Q7Z3K3,P55011,Q9UQE7,Q9NX14,P08754,P18583,Q13724,P55795,Q96PU5,P42356,Q9UBM7,Q86W42,Q15022,Q8NB90,Q69YQ0,Q14739,Q5T440,Q15643,O75787,P46100,Q13428,Q12959,Q00839,Q9ULH0,P53007,Q14683,Q9BXW9,Q6KC79,Q06787,Q9Y2U8,Q9UGU0,Q9NVI7,P98175,P51608,Q6ZRS2,Q96T58,Q99567,Q8N201,O60281,Q5H8A4,O60832,Q9Y4P3,Q68CP9,Q8WVM7 72 |
| Striae distensae 0.3010555015395769 0.1754782609324282 0.8607038510055827 1.0 0.9901442335013312 10 P40818,Q15334,Q96T58 3 |
| Global brain atrophy 0.2577172523033413 0.1753837246692349 0.8607781282121336 1.0 0.9901442335013312 20 O43819,Q8NB90,Q9H9P8,Q9NZJ7,P18583 5 |
| Neoplasm of the thyroid gland 0.2523028586583642 0.1747247743822963 0.8612959000766296 1.0 0.9901442335013312 23 Q96GM5,P51532,Q8TAQ2,P02545,Q68CP9 5 |
| Abnormal renal cortex morphology 0.2313376480404034 0.1745320042013401 0.8614473810177432 1.0 0.9901442335013312 53 P00846,Q9NQH7 2 |
| Abnormal dermatoglyphics 0.2177435655978991 0.1745299665190101 0.8614489822782954 1.0 0.9901442335013312 74 O96028,Q6NUK1,O60216,Q9UIG0,Q96ST3,Q8NI27,Q9H2P0,Q9UQE7,Q8IY17,P62266,Q69YQ0,Q9UBM7,Q14683,Q6KC79,P61978,P98175,Q99567,O60281,Q9Y4P3,Q8WVM7 20 |
| Abnormality of the hallux 0.2311099140953087 0.1728717155160491 0.8627522646445729 1.0 0.9901442335013312 53 Q14669,Q15427,P55011,Q9ULC3,Q9UGU0,Q9UIG0,Q9H2P0,O96028,Q5H8A4,Q14683,Q15233 11 |
| Pulmonary hypoplasia 0.2336007878255792 0.1690488020596485 0.8657582552558858 1.0 0.9908982773536524 30 Q9UBM7,Q69YQ0,Q14739,P98175,Q15643,Q99567,P02545,Q6NUK1,Q5JTZ9 9 |
| Gaze evoked nystagmus 0.2991565833424211 0.1686723868103198 0.8660543396745817 1.0 0.9908982773536524 10 P31040,P35251,Q99700,O15020,Q9Y4W6,Q9NWX6 6 |
| Widened subarachnoid space 0.2387924145328542 0.1658225405849358 0.8682966068775633 1.0 0.9908982773536524 28 P51608,O95831 2 |
| Recurrent pancreatitis 0.3849583828775194 0.1657842801316219 0.868326717562018 1.0 0.9908982773536524 3 Q6P1J9,P00403 2 |
| Abnormality of pelvic girdle bone morphology 0.2094868517805912 0.1652176146870139 0.8687727012767703 1.0 0.9908982773536524 142 Q15427,Q03252,Q9ULC3,P32322,P02545,O96028,Q9NQT5,Q96HY6,Q14669,Q14807,Q9UIG0,Q96AY3,Q9UHB7,O95831,P55011,Q9UQE7,Q9BXW9,Q9UBM7,Q14739,Q15643,P53007,Q14683,Q6KC79,Q14839,Q9UGU0,P61978,Q9NVI7,Q6ZRS2,Q96T58,Q9NUQ7,Q5H8A4,Q9Y4P3 32 |
| Irritability 0.2126392008892589 0.1651947750339444 0.8687906776859826 1.0 0.9908982773536524 80 P00846,O43772,P51608,Q5T440,O95831,P11166,Q06787 7 |
| Premature loss of primary teeth 0.3846611177169954 0.1651794439030523 0.8688027443995483 1.0 0.9908982773536524 3 P04080,P53634 2 |
| Brain imaging abnormality 0.2269431626065877 0.1650108728795479 0.8689354240535092 1.0 0.9908982773536524 41 Q7Z5J4,Q92560,P35240,O43819,Q9BYW2,Q9NZJ7,P53597,Q96ST3,Q15046,P35610,P11166,P09543 12 |
| Biparietal narrowing 0.2796927673053257 0.1648459993457601 0.8690651970404741 1.0 0.9908982773536524 13 Q9UBM7 1 |
| Widely spaced teeth 0.232226542843893 0.1645609672873856 0.8692895558693585 1.0 0.9908982773536524 31 P51608,Q9H2P0,Q9UQE7,Q14683,Q6KC79,Q15233 6 |
| Periventricular leukomalacia 0.2705633681359523 0.1625476264934819 0.8708746264041949 1.0 0.9908982773536524 16 Q9Y6X9,P11177,P08559,O75648,P18583,Q68CP9,Q5JTZ9 7 |
| Bulbar palsy 0.2968544301183327 0.1605489793208633 0.8724486420595519 1.0 0.990921218283451 10 P53007,P43243 2 |
| Intellectual disability moderate 0.2113965341297943 0.1569741570596918 0.8752652152583493 1.0 0.9928574415209128 77 Q96N66,Q8NB90,Q96GM5,P51608,Q9BYW2,Q6PJT7,P51532,Q6ZRS2,Q9NUQ7,Q8TAQ2,Q96JM3,Q96F86,P38159,P55011,Q68CP9,Q06787 16 |
| Joint contracture of the hand 0.2273964323235916 0.1558021849350992 0.8761889483304397 1.0 0.9935563628415702 48 Q15022,Q9Y6X9,Q9ULC3,Q9BYW2,Q96T58,P02545 6 |
| Abnormal anterior eye segment morphology 0.2084868904456542 0.1540882241408539 0.877540173164715 1.0 0.9942148435215866 323 Q01831,P32322,Q8NC56,Q06136,Q14669,P09651,Q9UHB7,Q04721,P55011,Q9UQE7,Q9NX14,Q9UBM7,Q13428,P11166,Q6KC79,P04439,Q9UGU0,P51608,Q13126,Q96T58,O60832,Q9Y4P3,Q9NPE3,Q9P273,Q12768,Q9Y4I1,Q6ZXV5,Q8N2K0,P61313,Q96J42,Q8ND04,P55265,Q8WWY3,P23786,Q7Z5J4,O14979,O15078,Q9H2P0,O94906,Q9ULH0,P19022,P40818,Q8N201,O14936,P31040,P62913,Q9ULC3,Q9BYW2,P02545,O96028,Q6NUK1,O14974,O60216,P10412,Q9UIG0,P50747,Q96ST3,Q8WVX9,Q8WYQ5,Q8IY17,Q9H9Y6,Q16134,Q9Y6X9,O60568,P08670,Q14739,Q02809,Q9BVA1,Q14683,P54098,P35240,O43172,O43837,O75695,O75530,P54886,Q07020,Q6P2Q9,Q92560,Q5H8A4,Q9Y467,O43395,O76024,P22626,Q12797,Q96RR1,Q7Z3K3,P02792,Q9BXW9,Q14839,Q9NVI7,Q6ZRS2,P07942 93 |
| Hypoplastic female external genitalia 0.2734428758769575 0.1503000808486522 0.8805278692065406 1.0 0.995761522376028 14 O60216,Q9NP72,Q14683,Q9UQE7,Q6NUK1,Q6KC79 6 |
| Pseudobulbar paralysis 0.3134513921764177 0.1467449746875553 0.8833333181772147 1.0 0.995761522376028 8 Q15233,P42356,P20700 3 |
| Abnormal cerebral ventricle morphology 0.2096814387944021 0.1461511880916866 0.8838020379550735 1.0 0.995761522376028 237 Q15427,Q03252,Q12768,P20700,Q15058,Q9BYW2,O14936,Q6ZXV5,P32322,Q96F07,Q96J42,P63000,O96028,P55265,Q6NUK1,O60508,Q4G0N4,P23786,Q7Z5J4,O14974,O60216,O43819,Q9Y320,P24928,O00459,P51532,Q96ST3,O00571,O14497,O15078,Q04721,Q8WVX9,Q9H2P0,Q8NI27,Q9UQE7,Q9NX14,Q9NPL8,P18583,Q9H490,P00846,Q9BXW9,Q9UBM7,Q86W42,Q69YQ0,O60341,O75787,Q9NZJ7,Q00839,Q8TAQ2,Q9ULH0,Q96JM3,Q9BVA1,P53007,P11166,Q14683,Q6KC79,P35240,Q14839,Q96GM5,Q96T58,Q99567,O60281,P07942,O60832,Q5H8A4,Q68CP9,Q7L2E3 67 |
| Radial bowing 0.3705025275052142 0.1452274225591671 0.8845313153781016 1.0 0.995761522376028 4 Q96L58,P21333,Q32P28 3 |
| Neonatal onset 0.2482223521806306 0.1452076512356159 0.8845469251506453 1.0 0.995761522376028 22 P49748,O14654,P53597,P16219,Q9H490 5 |
| Dyschromatopsia 0.3128954151473285 0.1451383720303877 0.8846016225321307 1.0 0.995761522376028 8 Q9Y6X9 1 |
| Abnormality of subcutaneous fat tissue 0.2693523970263118 0.1450393989705383 0.8846797647869202 1.0 0.995761522376028 15 Q9NW13,P17252,P02545,Q8NC56,Q6NUK1 5 |
| Everted upper lip vermilion 0.3376971139541893 0.1428471723964678 0.8864108808857756 1.0 0.995761522376028 6 Q7Z5J4,P04062,Q9H7D7,O15047,P46821 5 |
| Type ii diabetes mellitus 0.2252030802930905 0.142505720621458 0.886680561085694 1.0 0.995761522376028 36 Q9Y4P3,O43172,O43837,O75695,Q9UIG0,O43395,Q6P2Q9,P02545,O94906,Q8IY17,Q8WWY3 11 |
| Diaphragmatic eventration 0.3689047511815083 0.142048868933723 0.8870414051926059 1.0 0.995761522376028 4 Q68CP9 1 |
| Hypoventilation 0.2712556329379107 0.1418756512138285 0.8871782272600961 1.0 0.995761522376028 14 Q13724,O43819,P61978,P51608 4 |
| Multiple renal cysts 0.26851205956272 0.1417356311482226 0.8872888294583623 1.0 0.995761522376028 15 Q9UIG0,Q04721 2 |
| Atrophy degeneration affecting the central nervous system 0.2081097928979393 0.1410173004264296 0.8878562751527421 1.0 0.995761522376028 321 Q7L2E3,P20700,Q9ULC3,P00374,Q9Y4I1,Q9NYY8,Q9BYW2,P53597,Q01831,P22626,Q8ND04,Q96RR1,Q4G0N4,Q9NQT5,Q14669,P35658,Q99720,P09651,O43819,Q9Y320,Q9NW13,Q9UIG0,Q96TA2,Q92804,Q9Y3B2,O95831,Q96F86,Q7Z3K3,Q9H2P0,P55011,Q9UQE7,Q8IY17,P18583,P02792,Q9H490,P00846,Q69YQ0,Q9Y6X9,Q96N67,Q8NB90,Q5T440,O43678,P46100,P51572,Q96JM3,P11166,Q14683,P54098,Q15043,Q6KC79,Q06787,Q96JX3,Q96N66,Q9UGU0,O15121,P51608,P43243,Q6PJT7,Q96T58,Q9NUQ7,O60832,Q5H8A4,Q8WVM7 63 |
| Fibular aplasia 0.3703923900118824 0.1377486522934049 0.8904390669044997 1.0 0.995761522376028 3 P21333,Q9Y5S9 2 |
| Synostosis involving bones of the lower limbs 0.3703923900118813 0.1377486522934029 0.8904390669045013 1.0 0.995761522376028 3 P21333,P16435 2 |
| Tarsal synostosis 0.3703923900118813 0.1377486522934029 0.8904390669045013 1.0 0.995761522376028 3 P21333,P16435 2 |
| Spinal cord compression 0.3703923900118804 0.1377486522934012 0.8904390669045026 1.0 0.995761522376028 3 Q96L58,P51530 2 |
| Cortical cataract 0.3662479533557076 0.1368539001260015 0.8911462782587423 1.0 0.995761522376028 4 P35240 1 |
| Abnormality of the fontanelles or cranial sutures 0.2062092725375124 0.1362891370405477 0.8915927111412547 1.0 0.995761522376028 109 Q9ULC3,Q9BYW2,P32322,P02545,Q8NC56,Q96AY3,Q9UHB7,O95831,Q04721,Q9UQE7,P18583,Q32P28,Q69YQ0,P46100,Q00839,Q9Y2U8,Q14839,P61978,Q96GM5,P98175,Q96T58,O60281,Q68CP9 23 |
| Abnormality of the nasal bone 0.365769352886341 0.1359300765792944 0.8918765584702355 1.0 0.995761522376028 4 O14974,Q6NUK1 2 |
| Abnormality of the antihelix 0.2783904619970208 0.1358736247537413 0.8919211864771686 1.0 0.995761522376028 12 Q08J23,P27635,P98175,Q5SRE5,P21333,Q9H5V9,O14656,Q9UDR5,Q15029,P16435,Q9H2M9 11 |
| Curly hair 0.2892035541340872 0.1345782170473266 0.892945365184924 1.0 0.995761522376028 10 P14923,P55795,Q9UHB7,P18583 4 |
| Ectopic anus 0.2691472480800242 0.1339117899105207 0.893472327258986 1.0 0.9960627174845156 14 P49748,Q15022,Q12768,Q14839,Q9NX14 5 |
| Cor pulmonale 0.32362555720654 0.1336901529276244 0.8936475920858908 1.0 0.9960627174845156 2 P21333 1 |
| Elfin facies 0.3173488050007143 0.1316575225640469 0.8952551850461239 1.0 0.9962674445047464 7 Q9UIG0 1 |
| Cough 0.2394712606010932 0.131256959342959 0.8955720386174768 1.0 0.9962674445047464 25 Q14980,P35610,O15269 3 |
| Facial erythema 0.3665279429250779 0.1308610281661875 0.8958852445204177 1.0 0.9962674445047464 3 P40818,Q9H1A4 2 |
| Anodontia 0.3218424962852919 0.1303515426222559 0.8962883027795263 1.0 0.9962674445047464 2 P21333 1 |
| Cardiovascular calcification 0.2975965097464531 0.129146748506211 0.8972415317530087 1.0 0.996646792612776 9 P55265,P02545 2 |
| Abnormality of the endometrium 0.3063411729681388 0.1267452817733817 0.8991420051452768 1.0 0.996646792612776 8 Q86W42,Q15437,P52701,Q07864,P21912,P20585,P43246 7 |
| Sparse eyebrow 0.2225062977295661 0.1257148436543751 0.8999576515540699 1.0 0.996646792612776 35 P14923,P61978,Q9NVI7,O60341,P62304,P02545,Q02487,P18583 8 |
| Abnormality of the calcaneus 0.3147045722199174 0.124996968142853 0.9005259505868695 1.0 0.996646792612776 7 Q14739,P21333,O75787 3 |
| Elliptocytosis 0.3626250672477469 0.1241392303720002 0.901205037034734 1.0 0.996646792612776 3 P11171 1 |
| Vitreous floaters 0.3622153765307445 0.1234472725651074 0.9017529252197662 1.0 0.996646792612776 3 P04439 1 |
| Full cheeks 0.2205918209481185 0.1221051951009418 0.9028157075737616 1.0 0.996646792612776 40 P10412,Q9UHB7,O15078,Q04721,Q96J42,P02545,Q8N201,P08754,P18583 9 |
| Renovascular hypertension 0.3127395961612848 0.1201468996305903 0.9043667809113172 1.0 0.996646792612776 7 Q9UIG0 1 |
| Gastrointestinal atresia 0.2599485140915621 0.1199170650758844 0.904548846050294 1.0 0.996646792612776 16 O14974,Q9BXW9,Q96GM5,P18583,P23229 5 |
| Abnormality of fundus pigmentation 0.3414634146341369 0.1193125751067387 0.9050277211714556 1.0 0.9969361516368964 5 O15484,Q6P2Q9,P38435,Q2M1P5 4 |
| Flexion contracture of digit 0.2159179808325186 0.1186987257433069 0.9055140461210692 1.0 0.9969954030614114 70 Q15022,Q9Y6X9,P10412,Q9ULC3,Q9BYW2,Q8WWQ0,Q96T58,P02545,P55201 9 |
| Abnormal insulin level 0.2422890090414615 0.1178365273338906 0.9061971865323072 1.0 0.997033181363708 22 Q16836,O43172,O43837,O75695,P00367,O43395,P02545,O94906,Q8WWY3 9 |
| Protruding tongue 0.2785244356139523 0.1168660039759072 0.9069662384028578 1.0 0.997581347400323 11 Q6NUK1,P42356,P46100,P20700 4 |
| Abnormal corpus callosum morphology 0.2084453078793206 0.1158080952243293 0.9078046346265332 1.0 0.997581347400323 306 P37268,Q03164,P20700,Q15058,Q9ULC3,Q9BYW2,P29372,Q6ZXV5,P32322,Q96KR1,Q96J42,P63000,O96028,P55265,O60508,Q4G0N4,P23786,Q14669,Q9UBX3,Q7Z5J4,Q9BW92,Q9H9P8,Q9Y320,O00459,Q9Y4A5,P51532,Q9Y3B2,O00571,O14497,O95831,Q96F86,O15078,P55011,Q9H2P0,Q7Z3K3,Q9NX14,P18583,Q9H490,P09543,Q13724,Q96PU5,Q9UBM7,Q86W42,Q15022,Q69YQ0,Q8NB90,Q9BXW9,O60341,Q5T440,O43678,O75787,P46100,Q9NZJ7,Q00839,P51572,Q8TAQ2,Q9ULH0,Q96JM3,Q8TD30,Q9BVA1,Q14683,Q15233,Q96N66,Q9UGU0,P61978,P98175,Q96GM5,Q9NVI7,Q96N67,Q6PJT7,Q96T58,Q5JPH6,Q9NUQ7,P07942,Q5H8A4,Q68CP9 76 |
| Abnormality of circulating glucocorticoid level 0.2663835712987767 0.1156830026010211 0.907903777758162 1.0 0.997581347400323 13 Q92560,P17252,P35240 3 |
| Abdominal obesity 0.3257575035276799 0.1155694427903488 0.9079937817118776 1.0 0.997581347400323 6 Q96LT9 1 |
| Large hands 0.2831324211002446 0.1151204283965409 0.9083496680328298 1.0 0.9977345650777568 10 Q9BYW2 1 |
| Hyperacusis 0.292176319233151 0.1133306848515159 0.9097683909536096 1.0 0.9979661354574338 9 Q9Y4P3,Q9UIG0 2 |
| Sound sensitivity 0.292176319233151 0.1133306848515159 0.9097683909536096 1.0 0.9979661354574338 9 Q9Y4P3,Q9UIG0 2 |
| Premature birth 0.2208172202006339 0.1126550694638366 0.9103040237765092 1.0 0.9979661354574338 48 Q8WUM0,Q15427,O60216,Q9UBM7,Q6P1M0,P11274,Q9NP81,O75879,Q9UNF1,O96011,Q8NI27,P02545,Q9UQE7,Q9NX14,Q14683,O60885,Q6KC79 17 |
| Metrorrhagia 0.3243823303979838 0.112608359870197 0.9103410569936524 1.0 0.9979661354574338 6 Q14980,P40818,Q6UN15 3 |
| Abnormal heart rate variability 0.3528602058854072 0.1123967911375114 0.9105087995084526 1.0 0.9979661354574338 4 Q14683 1 |
| Rod cone dystrophy 0.2176548903011913 0.109869788700306 0.9125126425816652 1.0 0.9989106995793036 42 P00846,O43172,O43837,O75695,Q15067,O43395,Q8N2K0,O15078,Q7Z3K3,Q6P2Q9,O94906,Q5T8D3,Q8WWY3,O96011 14 |
| Abnormal circulating porphyrin concentration 0.3506381710198634 0.108615199310157 0.9135077047741088 1.0 0.9989724550284816 4 P36551 1 |
| Hypoplasia of the musculature 0.3351523536416416 0.1071236658359799 0.9146908725726944 1.0 0.9989724550284816 5 Q9Y487 1 |
| Oral cavity bleeding 0.3215339577972743 0.1065943815681184 0.9151107760488671 1.0 0.9989724550284816 6 Q14980,Q6UN15,Q02241 3 |
| Nasogastric tube feeding 0.2273594977350171 0.1058990946069201 0.9156624124286394 1.0 0.999218358369529 28 Q13724,Q96N66,Q6PJT7,Q6ZRS2,Q9NUQ7,Q96F86,P55011,Q15233 8 |
| Abnormal brain choline level by mrs 0.3495134950203437 0.1032730144195387 0.9177462924545828 1.0 0.999718905532993 3 P09543 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.3495134950203437 0.1032730144195387 0.9177462924545828 1.0 0.999718905532993 3 P09543 1 |
| Reduced brain n acetyl aspartate level by mrs 0.3495134950203437 0.1032730144195387 0.9177462924545828 1.0 0.999718905532993 3 P09543 1 |
| Suicidal ideation 0.3483947681331671 0.1016141316604365 0.9190629620704742 1.0 0.9997668688787202 3 Q01082,Q14203 2 |
| Abnormality of body mass index 0.3483947681331614 0.1016141316604284 0.9190629620704808 1.0 0.9997668688787202 3 Q9UJS0,Q8NI27 2 |
| Genital neoplasm 0.2180127159335873 0.101202522699433 0.919389694177586 1.0 0.9997668688787202 36 Q9BYW2,P48735 2 |
| Extrapyramidal muscular rigidity 0.3185972122394732 0.1005623737911841 0.919897866605341 1.0 0.9999361388942756 6 P55265,O75787 2 |
| Short tibia 0.3452274754683412 0.0997361157752125 0.920553827238246 1.0 1.0 4 O75369,Q96PY6,P38919 3 |
| Muscle spasm 0.217129817809873 0.0968962578475396 0.922808780629627 1.0 1.0 65 P00846,P49748,Q9Y6X9,P09651,P11310,P43243,Q92804,Q5H8A4,P54098,P23786 10 |
| Recurrent hypoglycemia 0.3451248513674141 0.0968738103330366 0.9228266072913798 1.0 1.0 3 P35914,Q16512 2 |
| Perisylvian polymicrogyria 0.3292829012830257 0.0964257384977642 0.9231824510007284 1.0 1.0 5 Q9BVA1,P42356 2 |
| Secondary amenorrhea 0.2533133052661533 0.0954676914552276 0.9239433515043936 1.0 1.0 16 P54098,Q8WWQ0,P02545 3 |
| Intracranial hemorrhage 0.2294544605885147 0.0940858153586781 0.925040988099178 1.0 1.0 26 P31040,P35240,P49257,P26440,P02545,P23786 6 |
| Acute encephalopathy 0.341361879274466 0.0936770526893338 0.9253656994043208 1.0 1.0 4 P05165,P49792,P05166 3 |
| Hypopigmentation of the fundus 0.3413618792744659 0.0936770526893335 0.9253656994043212 1.0 1.0 4 Q6P2Q9,P38435,Q2M1P5 3 |
| Hip contracture 0.2754721453130956 0.0920618481282094 0.9266489004641648 1.0 1.0 10 Q9BYW2 1 |
| Polycystic kidney dysplasia 0.2547602899413173 0.0913634524059547 0.9272038010102996 1.0 1.0 15 P23786,Q15643,Q6ZRS2,Q14697 4 |
| Aplasia hypoplasia of the thymus 0.2703308731793167 0.0913348653166884 0.9272265152381244 1.0 1.0 11 Q13428 1 |
| Abnormality of the thymus 0.2703308731793167 0.0913348653166884 0.9272265152381244 1.0 1.0 11 Q13428 1 |
| Abnormality of the pancreas 0.2039123986066631 0.0904801462963316 0.9279056701941424 1.0 1.0 78 O60832,Q9NQH7,P09601,Q96T58 4 |
| Neuronal loss in the cerebral cortex 0.3389830508474667 0.090065534634461 0.9282351372527272 1.0 1.0 4 P35637,Q13148,P55072 3 |
| Poor coordination 0.274514574060815 0.0892982196713212 0.9288449089153356 1.0 1.0 10 Q9UGU0 1 |
| Decreased adipose tissue 0.253940291694572 0.0885842039509042 0.9294123621477912 1.0 1.0 15 Q9NW13,Q03252,P02545,Q8NC56 4 |
| Chorioretinal degeneration 0.3245092207019556 0.0881768117488454 0.9297361470606904 1.0 1.0 5 P40939,Q9Y619,P35222,O75695 4 |
| Overhanging nasal tip 0.3385850178359016 0.0878737521601134 0.9299770186259212 1.0 1.0 3 P17252,Q9H9E3 2 |
| Accessory oral frenulum 0.3385850178359006 0.0878737521601118 0.9299770186259224 1.0 1.0 3 Q15029,P17252 2 |
| Skin appendage neoplasm 0.3371989295272155 0.0874151700889418 0.9303415115497292 1.0 1.0 4 Q15437,Q9UPY3,P35222 3 |
| Microscopic hematuria 0.3370447301606983 0.0871884404614416 0.9305217275408042 1.0 1.0 4 O60488,Q03252 2 |
| Hypopigmentation of the skin 0.2181607696252993 0.0871786407591463 0.9305295169122528 1.0 1.0 52 Q9NPE3,O60832,Q9Y2U8,Q9BXW9,Q99828,Q9BYW2,Q9Y4I1,Q01831,P02545,P55265,Q9NX14 11 |
| Long thorax 0.3373959571938085 0.0863055641606626 0.9312235154221142 1.0 1.0 3 P17252,P17612 2 |
| Abnormal talus morphology 0.244530084415043 0.085713284389196 0.9316943415791308 1.0 1.0 18 P98175,Q15058,P02545 3 |
| Abnormal circulating proline concentration 0.3368875781147609 0.085641442065591 0.9317514534567568 1.0 1.0 3 P30038 1 |
| Hypopigmented skin patches 0.2205412239509028 0.0850888662425596 0.9321907416569676 1.0 1.0 29 Q9NPE3,Q9BXW9,Q99828,Q01831,O60832,Q9NX14 6 |
| Narrow palate 0.2132165464381284 0.0841493330628364 0.9329377015921634 1.0 1.0 42 Q12768,O60318,P11274,Q15233,P61978,Q96T58,Q96ST3,Q6NUK1,Q68CP9,Q6KC79,P23786 11 |
| Bilateral sensorineural hearing impairment 0.2289819032311615 0.083029113013531 0.9338283906931586 1.0 1.0 25 Q15067,Q9NZJ7,P38159,Q7Z3K3,P55011,Q96RR1,P54098 7 |
| Abnormal pyramidal sign 0.2039506214585209 0.0818348851493367 0.9347780147606785 1.0 1.0 129 P00846,Q99720,Q9Y6X9,O00567,O15121,P51608,Q5T440,O75477,Q8IY17,Q8N2K0,O95831,Q96KR1,Q8TD30,P11166 14 |
| Aortic valve stenosis 0.2710804530268452 0.0796062302254017 0.93655043994233 1.0 1.0 10 P24468,Q04721,P02545 3 |
| Abnormal subarachnoid space morphology 0.2157370831630063 0.0786823873686249 0.937285254885832 1.0 1.0 32 P51608,O95831 2 |
| Abnormality of lower limb joint 0.1933546834648234 0.0780179230527767 0.9378137959129278 1.0 1.0 174 P37268,Q15427,Q9ULC3,Q9BYW2,Q6ZXV5,P32322,P02545,O96028,P23786,Q9NQT5,Q96HY6,Q14807,O00459,Q9UIG0,Q96AY3,Q9UHB7,O95831,Q04721,P55011,Q9UQE7,Q96PU5,Q9UBM7,Q9BXW9,Q15643,O75477,P46100,P53007,Q14683,Q15043,Q6KC79,Q15233,Q14839,Q9NUQ7 33 |
| Increased bone mineral density 0.2295129249254268 0.0774895064900182 0.9382341387819192 1.0 1.0 24 Q9Y2U8,Q14739,Q9UIG0,Q13126,P02545,Q15043 6 |
| Progeroid facial appearance 0.2932612994233649 0.0767014503625126 0.9388610507195104 1.0 1.0 7 P02545 1 |
| Abnormality of globe location 0.2074039395404308 0.0763413313755758 0.9391475440843352 1.0 1.0 285 Q03164,P20700,P29372,P32322,Q8NC56,Q14669,Q9Y4W2,O60783,O43292,O00459,Q9UHB7,O95831,Q04721,P55011,Q32P28,P55795,Q9UBM7,O60341,Q13428,Q6KC79,Q9UGU0,P61978,P98175,Q96T58,Q99567,O60281,Q9P273,Q12768,Q8WWQ0,P61313,Q96J42,Q7Z5J4,Q9Y4A5,Q15067,O95602,O00571,O15078,P55201,Q86W42,P46100,Q9ULH0,P19022,Q8TD30,O75718,Q06787,Q9Y2U8,Q8N201,O14936,P62913,P02545,O96028,Q6NUK1,O14974,P24928,Q96ST3,Q8NI27,Q8WVX9,Q5T8D3,Q9H9Y6,Q9NRZ9,Q9H490,Q15022,Q69YQ0,O60568,P11274,Q14739,Q00839,Q96A33,Q14683,P35240,Q96GM5,P50454,O75530,P54886,Q5H8A4,Q8WVM7,Q7Z3K3,P18583,Q9BXW9,Q15043,Q15233,Q14839,Q9NVI7,Q6ZRS2 84 |
| Tetraplegia tetraparesis 0.2160635841043892 0.0763243227842118 0.939161075497559 1.0 1.0 51 P00846,P31040,Q9UBX3,P20700,Q9H9P8,Q5U5X0,Q13148,P50336,P49792,P51572,Q9NZJ7,P54886,Q5JPH6,O95831,Q8WVX9,P55265,Q14683,Q4G0N4 18 |
| Abnormal renal morphology 0.2071228349906179 0.0749040351706868 0.9402910659772016 1.0 1.0 262 Q9NQH7,P31040,Q15427,Q03252,Q03164,P20700,Q12768,P62913,Q15058,Q9ULC3,Q9BYW2,Q8WVM7,Q8WWQ0,P53597,P61313,P51530,Q16822,Q96J42,P02545,Q9H936,P23786,P23229,Q7Z5J4,O43819,O00459,Q9Y4A5,Q9UIG0,P51532,Q14697,Q9UHB7,O14497,O15078,Q04721,Q7Z3K3,Q9UQE7,P18583,Q8N1G0,P00846,Q9BXW9,Q9UBM7,Q86W42,Q69YQ0,Q15643,Q9NP81,P46100,Q00839,Q8TAQ2,O60934,O75718,Q14683,Q6KC79,P40818,Q9Y2U8,P61978,Q96GM5,P98175,Q4J6C6,Q6ZRS2,Q96T58,Q8N201,O60832,Q9Y4P3,Q68CP9,O14936 64 |
| Increased circulating prolactin concentration 0.285203929740987 0.0744421603340439 0.9406585627513444 1.0 1.0 8 O14802,Q969G3,P35222,O00170,Q92560,Q12824,P35240 7 |
| Decreased facial expression 0.2154078942998823 0.0730010942972163 0.9418052467127008 1.0 1.0 30 Q06787,Q86U42,O75787,Q96RR1,P54098,Q15043,P02792 7 |
| Right bundle branch block 0.2582609735030037 0.071325619469526 0.943138605763388 1.0 1.0 12 Q99959,Q9H490,Q8NC56 3 |
| Nasogastric tube feeding in infancy 0.2758115594773309 0.0702631632506196 0.9439842014823724 1.0 1.0 9 P61978,Q8TD30,Q9NZJ7 3 |
| Reduced systolic function 0.3237217598097434 0.06974498393871 0.9443966369268986 1.0 1.0 3 P14923,P15924 2 |
| Wide nose 0.2105762480629557 0.0696173717632494 0.9444982098199362 1.0 1.0 42 Q7Z5J4,Q9Y2U8,Q03164,P51532,O14497,Q12797,Q04721,Q9NX14,Q5H8A4 9 |
| Congestive heart failure 0.2136695530718738 0.0693555899601083 0.9447065778316296 1.0 1.0 64 P09651,P51608,Q70HW3,Q9UIG0,Q9UHB7,P02545,Q969Y2 7 |
| Limited extraocular movements 0.289354705527761 0.0690037942567131 0.9449865993205444 1.0 1.0 7 O43819,Q9BVA1 2 |
| Prematurely aged appearance 0.20997344326226 0.0687192367704693 0.9452131056713946 1.0 1.0 43 Q9NPE3,Q9Y4P3,Q03252,Q9Y4I1,Q9UIG0,Q13126,P54886,Q02809,P06748,P32322,P02545,O60832,P11166,Q6NUK1 14 |
| Abnormal calcium phosphate regulating hormone level 0.275075100481265 0.0684925004462143 0.9453935898350244 1.0 1.0 9 P31040,Q6P1J9,Q02978,P40926,P36957 5 |
| Pierre robin sequence 0.2889880952380973 0.0682987677729 0.9455478050151372 1.0 1.0 7 O75179,P38919,P98175,Q96DF8,P21333,Q8WYQ5 6 |
| Pes planus 0.2022846008744055 0.0681792771231075 0.9456429230401036 1.0 1.0 76 Q9Y4P3,Q9BYW2,Q8WWQ0,P32322,P02545,Q9Y4W2,O43819,Q9UIG0,P55795,Q9BXW9,O75787,P46100,Q06787,Q15233,P61978,P51608,Q96T58,Q5H8A4,Q7L2E3 19 |
| Slender finger 0.210918933376873 0.0663687537172915 0.947084246257712 1.0 1.0 39 Q9Y4L1,P55795,Q14807,P11274,P46100,Q02809,Q96ST3,O96028,Q15334,Q9BZI7,P18583,Q5H8A4 12 |
| Corneal opacity 0.2144653881113839 0.066307676242514 0.9471328719191384 1.0 1.0 61 Q9UBM7,Q9ULC3,Q01831,Q96J42,P02545,O96028,Q06136 7 |
| Decreased circulating acth level 0.2997525571641641 0.065914998530354 0.9474454994519996 1.0 1.0 6 P35240 1 |
| Microretrognathia 0.2443913080415778 0.0653463957576149 0.9478982027843064 1.0 1.0 16 Q15427,Q8N201 2 |
| Poor suck 0.2184927788103152 0.0649275141546958 0.9482317136808172 1.0 1.0 28 Q9UBM7,O43819,Q12959,Q8TAQ2,P53007,P22695,Q14683,Q15233 8 |
| Mortality aging 0.2009689011895785 0.0649204332566353 0.948237351525424 1.0 1.0 116 P49411,Q12768,Q9H0U9,Q8WWQ0,P53597,P02545,Q9Y6N7,Q9H936,Q92925,Q6NUK1,O60508,Q5JTZ9,Q4G0N4,P49748,O43819,Q15067,Q9UIG0,Q9NX14,Q9NPL8,Q14739,O43678,Q15643,P46100,Q9NZJ7,Q15046,O75718,P54098,Q9NVI7,Q8TCJ2,Q9Y4P3 30 |
| Retinopathy 0.2135795850300254 0.0645682679351662 0.9485177504879982 1.0 1.0 30 O96028,P00846,Q9Y4I1 3 |
| Coarctation of aorta 0.2106662789056707 0.0633664120737155 0.949474732762585 1.0 1.0 37 P62913,Q69YQ0,Q9UBM7,Q14839,P24468,Q9Y4A5,Q6ZRS2,P53597,P61313 9 |
| Death in childhood 0.2259515873974681 0.0630840049625848 0.949699611118788 1.0 1.0 24 P53597,Q8TCJ2,Q15046,Q92925,Q9NPL8 5 |
| Distal lower limb amyotrophy 0.2478391522073687 0.0623691155585819 0.9502688892754624 1.0 1.0 14 P02545 1 |
| Abnormality of facial skeleton 0.2008573802258228 0.0617035677796381 0.9507988987084296 1.0 1.0 342 Q9Y4P3,P37268,Q9NPE3,P62913,Q15427,Q15058,Q12768,Q9ULC3,Q9BYW2,Q8WWQ0,Q01831,P32322,Q12797,P61313,Q96J42,P02545,Q8ND04,O96028,Q8NC56,P51530,Q14669,Q7Z5J4,Q14807,Q9Y4W2,Q9Y4A5,Q9UIG0,Q9Y3B2,Q9UHB7,O95602,O95831,Q7Z3K3,Q04721,P55011,O15078,Q9UQE7,Q9NX14,P08754,P18583,Q9H490,Q13724,P55795,Q96PU5,Q9UBM7,Q15022,Q69YQ0,Q9BXW9,Q8NB90,Q14739,P42356,Q5T440,Q15643,P46100,O75787,Q13428,Q12959,Q00839,P53007,Q14683,Q15043,Q6KC79,Q06787,Q15233,Q9Y2U8,Q9UGU0,Q9NVI7,P51608,P98175,Q6ZRS2,Q96T58,Q99567,Q8N201,O60281,O60832,Q5H8A4,Q68CP9,Q8WVM7 76 |
| Abnormal circulating estrogen level 0.2490148678069983 0.06069925115292 0.9515987280765084 1.0 1.0 13 P04637,Q15031,P57740,Q8IY37,Q92560,P35240 6 |
| Hypertonia 0.1867462024354468 0.0604129976783528 0.9518267069158796 1.0 1.0 397 P49411,P20700,Q9Y4I1,P53597,Q01831,Q6ZXV5,Q8N2K0,Q96KR1,Q96RR1,O60508,Q4G0N4,Q9NQT5,Q9UBX3,P35658,Q99720,P09651,P10412,O00567,O43292,Q9Y320,O43819,Q9UIG0,Q92804,O95831,Q96F86,P82930,Q9H2P0,P55011,P35610,Q9UQE7,Q8IY17,P18583,P02792,Q9H490,P00846,P55795,Q15022,Q9UBM7,Q9Y6X9,P42356,Q8NB90,Q14739,O60341,Q5T440,O75477,P46100,O43678,O75746,Q96JM3,P16219,Q8TD30,P11166,Q14683,P54098,Q15043,Q6KC79,Q06787,Q96JX3,Q96N66,Q9UGU0,O15121,P51608,Q9NVI7,P43243,Q6PJT7,Q9NUQ7,O60281,P07942,O60832,Q5JPH6 70 |
| Steppage gait 0.2335606000924882 0.0584700077852 0.953374251929628 1.0 1.0 19 O43819,O15269,P54098,P02545 4 |
| Deviation of toes 0.209091307757355 0.0582869213489611 0.9535200850554078 1.0 1.0 40 Q14669,Q15427,Q9UGU0,P51608,Q9UIG0,P55011,Q15233 7 |
| Photophobia 0.2096438252275039 0.0579708460102317 0.9537718509732882 1.0 1.0 36 O43172,P04439,O43837,O75695,O43395,Q9NZJ7,Q01831,Q8IY17,Q6P2Q9,O94906,Q9Y4W6,Q8WWY3 12 |
| Upper limb amyotrophy 0.2462921335543166 0.0578235089361087 0.9538892120828268 1.0 1.0 14 P07196,Q9Y6X9,O60568,Q14315,P43243 5 |
| Childhood onset 0.2075101374179717 0.055560297045508 0.9556920939890148 1.0 1.0 43 Q01831,P51608 2 |
| Increased sulfur amino acid level in urine 0.312202769646897 0.0553985497531918 0.9558209511944142 1.0 1.0 4 Q4J6C6 1 |
| Anal stenosis 0.3118818353892953 0.0550476427563104 0.9561005078762406 1.0 1.0 4 Q69YQ0 1 |
| Muscular ventricular septal defect 0.3104371097234697 0.0534861671878089 0.9573445518582696 1.0 1.0 4 Q9Y2W2,Q86W42,Q9BV10 3 |
| Abnormal circulating sex hormone concentration 0.2232460719869068 0.0526112106951599 0.958041684499898 1.0 1.0 24 Q9NW13,Q8WWQ0,P35240 3 |
| Abnormality of the tongue 0.1974410017039886 0.0523895535876039 0.9582182977170186 1.0 1.0 99 Q03252,P20700,Q9H0U9,Q96J42,P02545,Q9NQT5,O00567,Q9UIG0,P51532,Q9UHB7,O14497,O95831,O15078,P42356,Q9UBM7,Q9Y6X9,P46100,Q13428,P35240,P61978,P98175,Q9Y4P3 22 |
| Epileptic encephalopathy 0.2130662632617303 0.0515400775929756 0.9588951669710924 1.0 1.0 29 Q96N67,Q13813,O75746,Q00839,Q96F07,P09471,Q9H936,Q96RR1,P11166,Q8WVM7 10 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.2087983502979148 0.050956070631389 0.9593605256002886 1.0 1.0 34 P11274,P51608,P51532,P21333,O14497,Q04721,Q96HP0,P02545,P51610,Q9BZI7,Q6NUK1 11 |
| Abnormality of the pulmonary vasculature 0.2074172705762098 0.0506799372490323 0.959580563857536 1.0 1.0 44 Q14669,Q9UGU0,P24468,Q9UIG0,Q04721,P02545,P55011,Q8ND04,Q14683 9 |
| High forehead 0.1972379730110928 0.050624219401649 0.9596249632748646 1.0 1.0 99 Q03164,Q9UGU0,Q14739,O00459,Q9BYW2,Q9UIG0,Q8WWQ0,Q00839,O96028,Q5H8A4,Q9H490,P23786 12 |
| Peripheral pulmonary artery stenosis 0.2551646703516474 0.0495455233096735 0.9604845593684463 1.0 1.0 11 Q9UIG0,Q04721 2 |
| Cortical myoclonus 0.302061191272633 0.04877607425409 0.9610977494532036 1.0 1.0 3 Q9Y4G8 1 |
| Brisk reflexes 0.2222270188993705 0.0487724258599446 0.9611006569900966 1.0 1.0 24 Q99720 1 |
| Generalized joint laxity 0.2495765982510266 0.0475970096654256 0.9620374152716572 1.0 1.0 12 Q8WWQ0 1 |
| Coronal craniosynostosis 0.287825580258908 0.0475564431416753 0.9620697460628278 1.0 1.0 6 Q9ULC3 1 |
| Intellectual disability mild 0.2005506970758807 0.0475464560486629 0.9620777056062384 1.0 1.0 126 Q9BYW2,P32322,Q96KR1,Q14669,O43292,Q96F86,Q7Z3K3,P35610,Q8IY17,P00846,Q96JM3,Q969Y2,P11166,Q14683,Q06787,Q15233,Q9Y2U8,Q96N66,Q9UGU0,P51608,Q6PJT7,Q6ZRS2,Q9NUQ7 23 |
| Abnormal lung development 0.2099846541362238 0.0468845511920477 0.962605240916362 1.0 1.0 49 Q69YQ0,Q9UBM7,Q14739,P98175,Q15643,Q99567,P02545,Q8WYQ5,O96028,Q5H8A4,P18583,Q6NUK1,Q5JTZ9 13 |
| Insidious onset 0.286521868491528 0.0457129843174434 0.9635390146402698 1.0 1.0 6 O60313,P04062,Q12768,Q99700,Q9NR77 5 |
| Spastic ataxia 0.2938726948244988 0.0446326006869595 0.964400156953165 1.0 1.0 5 Q9Y4W6,Q6PI48,Q86SX6,Q9NVV4 4 |
| Blistering by anatomical location 0.2963733650416102 0.0442613784372459 0.9646960570282808 1.0 1.0 3 Q15149,P23229 2 |
| Abnormal tricuspid valve morphology 0.24757133062003 0.0424750584937794 0.9661199942406108 1.0 1.0 12 P24468,Q9NX14,Q15233 3 |
| Vitiligo 0.2741856919902217 0.0422917210488623 0.9662661450290428 1.0 1.0 7 Q7Z3K3 1 |
| Intestinal atresia 0.2514354640112807 0.0403693667152936 0.9677986521523284 1.0 1.0 11 O14974,Q9Y2W2,Q96ST3,Q8N3U4,P18583,P23229 6 |
| Somatic sensory dysfunction 0.1962075309468817 0.0401779754151864 0.967951236521806 1.0 1.0 108 P00846,Q9Y6X9,P35240,P51608,Q5T440,O15269,P43243,Q8N2K0,O95831,Q96JM3,P02545,Q96RR1,P11166,Q14683,P54098,Q06787 16 |
| Bilateral ptosis 0.2399667259521503 0.0401625882489226 0.96796350380265 1.0 1.0 14 O60216,O43819,O60341,Q9H2P0,Q5T8D3 5 |
| Increased hepatic glycogen content 0.2886444708680079 0.0387353767754967 0.9691013679764902 1.0 1.0 3 P06737,P31040 2 |
| Soft skin 0.2670716363869332 0.0382079750800537 0.969521862346066 1.0 1.0 8 P18583,Q14807,Q13126 3 |
| Distal joint laxity 0.2853745541022525 0.036599190367329 0.970804589092548 1.0 1.0 3 Q02809,O75340 2 |
| Malar prominence 0.2921005295520483 0.0361583746934911 0.9711560764510864 1.0 1.0 4 Q9Y4W2 1 |
| Abnormality of the basal ganglia 0.1971225711659731 0.0360301221690666 0.9712583405238882 1.0 1.0 93 P00846,Q96N66,O43819,O43678,Q9NYY8,Q6PJT7,P53597,Q9NUQ7,O95831,Q96F86,P55011,Q9BVA1,Q969Y2,P02792,Q4G0N4,P23786 16 |
| Fragile nails 0.2493161970022031 0.0353479600831992 0.9718022805889844 1.0 1.0 11 Q96ST3,Q92925,P02792,P02545 4 |
| Abnormality of the gastric mucosa 0.2360863921446872 0.0344931374220487 0.972483914637549 1.0 1.0 15 Q14739,Q9UIG0,Q8N5K1 3 |
| Abnormal cellular phenotype 0.195838587243366 0.0337876488725248 0.9730464850952004 1.0 1.0 197 P31040,Q02241,P11310,Q70HW3,Q92643,P53597,Q01831,P51530,P02545,Q96RR1,Q9Y4W6,Q4G0N4,P23786,P49748,Q9UBX3,Q7Z5J4,O43772,P78536,O60783,P09601,Q8WYQ5,Q9NX14,P09622,Q9NPL8,Q9NRZ9,P18583,P00846,Q13724,Q9BXW9,Q14739,Q5T440,O43678,O75787,Q9NZJ7,Q15046,O60934,P11166,Q969Y2,P54098,Q06787,P35240,Q16836,O95299,Q13148,P51608,Q4J6C6,Q8N5K1,Q5JPH6 48 |
| Reduced consciousness confusion 0.1992020247142023 0.0336685872369037 0.9731414285174776 1.0 1.0 135 P62913,P11310,O75251,P26440,P61313,Q9H936,Q96RR1,P23786,P49748,O43772,P35914,P55084,O43819,P50336,P61353,P50747,P35610,P09622,Q9NX14,Q9NPL8,P36551,Q16134,Q9UBM7,Q5U5X0,P00367,P49792,Q9NZJ7,P16219,P11166,Q14683,P54098,P35240,Q16836,P40818,P30038,O96008,P08559,Q07020,Q99567,P46777,P29992,Q92560,Q5H8A4,Q96CU9,Q9BU61 45 |
| Rectal prolapse 0.2579105435315341 0.0313177055337306 0.9750161703594638 1.0 1.0 9 Q9UIG0 1 |
| Hypointensity of cerebral white matter on mri 0.2627915990881482 0.0308022232913905 0.975427267332591 1.0 1.0 8 P54098,Q15046,Q9NZJ7 3 |
| Hypokalemia 0.2651785714285738 0.0287644006006098 0.9770524933294138 1.0 1.0 7 P40818,P05023,P04637,Q9UNF1,Q01968,O00170 6 |
| Abnormality of dental structure 0.1968133124367842 0.0286930083460376 0.9771094326051496 1.0 1.0 76 Q9NPE3,P06748,P02545,Q92925,P23229,Q7Z5J4,Q9NW13,Q9UIG0,Q96AY3,Q9Y487,P55011,Q9NX14,Q9H9Y6,P04080,Q86W42,Q9UBM7,Q15643,Q13428,Q5JRA6,P50454,Q6ZRS2,Q6P4Q7,O60832,Q9Y4P3 24 |
| Decreased fertility 0.2162892208509135 0.0275599063198288 0.9780131596305002 1.0 1.0 24 Q8IY17,Q9BYW2,Q8WWQ0,P02545 4 |
| Broad toe 0.2129289579991054 0.0270884521610638 0.978389185222841 1.0 1.0 26 Q14669,Q15427,Q9UGU0,Q9H2P0,Q14683 5 |
| Barrett esophagus 0.2675386444708587 0.0268793731189109 0.978555945439519 1.0 1.0 3 P07954,O60216 2 |
| Delayed cns myelination 0.2027882325234204 0.0268659321329027 0.9785666659231956 1.0 1.0 35 Q9Y6X9,O60341,P51649,Q9Y3B2,O95831,Q7Z3K3,O60508,Q9H490 8 |
| Food allergy 0.2791806502270226 0.0265317352491489 0.97883322143476 1.0 1.0 4 Q6P1M0 1 |
| Thenar muscle atrophy 0.2651385676312655 0.0258012100675873 0.979415896677013 1.0 1.0 3 O60568 1 |
| Hemivertebrae 0.2349857049597984 0.0241075881871536 0.9807667905846568 1.0 1.0 13 P18583,P46100,Q12768 3 |
| Synostosis involving bones of the hand 0.2435358508315931 0.0223606459093253 0.9821602725112109 1.0 1.0 11 O75367 1 |
| Abnormal blood inorganic cation concentration 0.2011546927965413 0.0194678905142974 0.9844678518442562 1.0 1.0 37 P31040,P40939,Q9BYW2,P49748,Q6P1J9,P55084,Q9UIG0,Q8WYQ5,P40926,P36957,Q9NP81,Q92890,Q15043,O00443,P05023,Q02978,Q4J6C6,Q969N2,P29992,Q9Y4P3 20 |
| Abnormal mitral valve physiology 0.2003927216796409 0.0190682593388607 0.9847866522028336 1.0 1.0 42 O43819,P24468,O00459,Q9UIG0,Q04721,P02545,Q9NX14,P54098 8 |
| Abnormal tendon morphology 0.2002407041733656 0.0173928525112674 0.98612321116408 1.0 1.0 228 P37268,Q15058,Q9ULC3,P11310,Q9BYW2,Q8WWQ0,Q8N2K0,P02545,P23786,Q14807,Q99720,P10412,Q9NW13,O00459,Q96AY3,O95831,P55201,Q96PU5,Q15022,Q9Y6X9,Q5T440,O75477,P46100,P16219,Q6KC79,Q9Y2U8,O15121,P51608,Q96T58 29 |
| Intractable diarrhea 0.2643351609589803 0.0167856789845656 0.9866075948037334 1.0 1.0 5 Q92925 1 |
| Elevated pulmonary artery pressure 0.2080792056685128 0.0163418578627755 0.9869616642473632 1.0 1.0 27 Q9UHB7,P02545 2 |
| Pallor 0.2049012225245348 0.0163105921266323 0.9869866073710514 1.0 1.0 51 P35610,P00374 2 |
| Diffuse alveolar hemorrhage 0.2630186528860245 0.0158292114628887 0.9873706439764712 1.0 1.0 5 Q14980,Q6UN15 2 |
| Oligodontia 0.2442657134346231 0.0158141508097685 0.9873826591351262 1.0 1.0 10 Q7Z6Z7,O14802,P61978,P51812,Q6ZRS2,Q9NW08,P21333,Q6NUK1,O00443 9 |
| Adult onset 0.2007624010721395 0.0139654237479433 0.9888575661981178 1.0 1.0 70 P14923,Q06787,Q8N1G0,P35251,Q12768,P20700,P35240,Q86U42,P51649,P43243,Q9NZJ7,O14979,P02545,Q96RR1,P54098,P36551,P02792 17 |
| Aminoaciduria 0.199512552954224 0.0133021578205773 0.9893867266490468 1.0 1.0 35 Q01831 1 |
| Aortic dissection 0.2542372881356014 0.0131096992378604 0.989540272990994 1.0 1.0 4 Q02809,P01889,O15460 3 |
| Limb hypertonia 0.1994336789904877 0.0129900962581717 0.9896356942363996 1.0 1.0 40 P40818,P31040,P42356,Q9BW92,Q8NB90,Q14739,O60341,P46100,Q96F07,Q9ULH0,Q8WVX9 11 |
| Anisocoria 0.2539399345822271 0.0129855960202399 0.9896392846039336 1.0 1.0 4 Q96ST3,Q9NRG9,Q9NR77 3 |
| Abnormality of the fetal cardiovascular system 0.2539399345822253 0.012985596020239 0.9896392846039344 1.0 1.0 4 O60826,P16435,Q12768 3 |
| Glutaric aciduria 0.2578822129684622 0.012307107620011 0.9901805967249656 1.0 1.0 5 Q16134,P35914,P38117,Q92947 4 |
| Hypertension associated with pheochromocytoma 0.2519182437857808 0.0118561941953481 0.9905403473250272 1.0 1.0 7 Q02978,P31040,P40926 3 |
| Pheochromocytoma 0.2519182437857808 0.0118561941953481 0.9905403473250272 1.0 1.0 7 Q02978,P31040,P40926 3 |
| Elevated calcitonin 0.2519182437857808 0.0118561941953481 0.9905403473250272 1.0 1.0 7 Q02978,P31040,P40926 3 |
| Unexplained fevers 0.2565262394947412 0.0116215593703789 0.9907275459303242 1.0 1.0 6 P55265,Q9NZJ7 2 |
| Avascular necrosis 0.2125767736063462 0.0112446249904426 0.9910282763950076 1.0 1.0 23 Q9NPE3,Q6ZRS2,Q9NUQ7,P02545,O60832 5 |
| Abnormal renal pelvis morphology 0.2050996198779349 0.0102234806624275 0.9918429847166336 1.0 1.0 58 Q12768,P20700,Q9ULC3,Q9NP72,Q9BYW2,O76024,P23786,P23229,Q9Y4A5,O96011,Q9UBM7,P46100,O60934,O75718,Q5JRA6,P61978,P98175,Q6ZRS2,Q96T58,P21333,Q9BU61 21 |
| Abnormal atrioventricular valve physiology 0.2045318842280599 0.0096550314114581 0.9922965191888572 1.0 1.0 54 P02545,Q6NUK1,O60216,P55084,O43819,P24468,O00459,Q9UIG0,Q04721,Q8WVX9,Q9NX14,P46100,Q96PY6,P19022,P54098,Q15233,Q9UER7,P54886,P21333,P46777,Q9Y4P3,Q9BU61 22 |
| Large face 0.1999537622610372 0.0091878840796092 0.992669232287076 1.0 1.0 70 Q9BYW2,Q92643,Q7Z5J4,O14974,Q14669,Q96ST3,O00571,O15078,P55011,Q9H490,P11274,Q96JM3,P53007,Q06787,Q15233,P61978,Q9NVI7,Q9UGU0,Q96T58 19 |
| Abnormal pupillary function 0.2487300085773188 0.0082997219592966 0.9933778560179638 1.0 1.0 7 P29992,Q92560,Q9NZJ7 3 |
| Abnormal cornea morphology 0.1923927651070163 0.0075225432485811 0.9939979354921668 1.0 1.0 156 Q9P273,Q9ULC3,Q9BYW2,O43395,Q01831,P32322,Q96J42,P02545,Q8ND04,O96028,Q8WWY3,Q6NUK1,Q06136,Q14669,Q7Z5J4,O14974,O60216,P10412,Q9UIG0,P50747,O15078,Q04721,Q7Z3K3,P55011,O94906,Q9UQE7,Q9NX14,Q9H2P0,Q8WYQ5,Q9BXW9,Q9UBM7,Q14739,Q02809,Q9ULH0,Q14683,Q6KC79,O43172,Q9UGU0,O43837,O75695,Q14839,Q9NVI7,P54886,Q8N201,Q5H8A4,Q9Y4P3 46 |
| Allergy 0.2514897276732526 0.0073466610694936 0.9941382652889006 1.0 1.0 6 O14646 1 |
| Retinal detachment 0.2192550391678888 0.007159552107908 0.9942875527134448 1.0 1.0 18 Q9P273,Q9Y6K9,Q7Z5J4,P04439,Q02809,P35222,P29992,Q92560,O43505 9 |
| Excessive wrinkled skin 0.2376854333382647 0.0033496043245767 0.9973274074223036 1.0 1.0 10 Q02809,O60832,P32322 3 |
| Eeg with generalized sharp slow waves 0.2406175244029531 0.0027226584918417 0.99782763550893 1.0 1.0 5 P30038,P08559 2 |
| Pituitary growth hormone cell adenoma 0.2170680939637307 0.0025974924449679 0.9979275032118696 1.0 1.0 4 O00170,Q9UBS4,Q14697 3 |
| Abnormal palmar dermatoglyphics 0.2032677123257847 0.0025465347080346 0.9979681614689352 1.0 1.0 61 P62266,O60216,Q69YQ0,P61978,P98175,Q96ST3,Q99567,Q14683,Q8NI27,O60281,Q9H2P0,O96028,Q9UQE7,Q8IY17,Q6NUK1,Q8WVM7,Q6KC79 17 |
| Infantile onset 0.192285986037139 0.0024823055172533 0.9980194087866026 1.0 1.0 192 P49411,P20700,Q9Y4I1,Q70HW3,Q8WWQ0,P53597,Q6ZXV5,O14646,P55265,P23786,P49748,P35658,Q9H9P8,O43292,Q9Y320,Q15067,P51649,Q96TA2,O00571,Q9Y2R9,O95831,Q96F86,Q9H2P0,Q02487,Q9NPL8,P18583,P55795,Q69YQ0,Q96N67,O75746,O75787,Q9NP81,Q9NZJ7,Q00839,Q9BRT2,P11166,P54098,O95299,Q9NVI7,P51608,Q5JPH6,Q7L2E3 42 |
| Type 2 muscle fiber atrophy 0.2140945584299812 0.002108776569955 0.9983174409796896 1.0 1.0 4 Q8TCS8,Q9NP81,P11047 3 |
| Depression 0.1926651270205642 0.0015892389299349 0.9987319713281506 1.0 1.0 111 P31040,P20700,Q8WWQ0,P51530,Q96RR1,Q9Y4W6,Q5JTZ9,P09651,Q9UIG0,Q92804,Q96F86,Q8NI27,P55011,P36551,P11274,P17252,P46100,Q9NZJ7,P11166,Q14683,P54098,Q06787,P40818,Q13148,Q96N66,P51608,P30038,P43243,Q6PJT7,Q9NUQ7,Q8N5K1,Q9Y4P3 32 |
| Abnormal bone structure 0.1901939869542891 0.0012637924907892 0.9989916397519614 1.0 1.0 184 Q14692,P62913,Q15058,Q9BYW2,P48735,Q8WWQ0,P22626,P02545,O96028,Q96HY6,Q14807,P09651,O43292,Q9UIG0,Q96AY3,O95831,Q9H490,Q9UBM7,Q14739,Q15643,Q13428,P54098,Q9Y2U8,Q9NUQ7,O60832,Q5H8A4 26 |
| Atrophic scars 0.2420363203334265 0.0008102640220041 0.9993535029174094 1.0 1.0 8 Q8NCH0,P53634,Q02809,Q15149,Q03001,Q96L58,P23229 7 |
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