| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Abnormality of corneal stroma 0.9224117096284302 2.903576804468462 0.0036892646864472 0.99999994899399 0.9066281284313226 13 P10619,O43505,P16278,P34913,Q13510,P01130 6 |
| Arteriosclerosis 0.8863435909734919 2.804171580840104 0.0050446051481563 0.9999999998948508 0.9066281284313226 16 O15118,P16278,P34913,P38571,P61916,Q13510,P01130 7 |
| Cherry red spot of the macula 0.9694271858935885 2.7966168855872366 0.005164072786334 0.9999999999390622 0.9066281284313226 9 P06865,P07602,P16278,P17900,Q13510,P10619 6 |
| Abnormal tissue metabolite concentration 0.8562588200769478 2.6224927370190767 0.0087289128300278 1.0 0.9066281284313226 13 P06280,P17900,P06865,P07602 4 |
| Abnormality of the liver 0.4342741252904193 2.594464645968554 0.0094738356467594 1.0 0.9066281284313226 278 P07602,Q8N511,P15586,P11717,P10253,P11310,P61916,P01130,O43772,Q14108,P15260,P04066,O00754,P53634,Q13510,P10619,P54802,Q15904,O15118,P16278,P07686,Q9UBM7,P04062,P38571,P03886 25 |
| Progressive spastic quadriplegia 0.9309922271336516 2.584018483853321 0.0097656560542136 1.0 0.9066281284313226 8 P17900,P07602 2 |
| Loss of speech 0.8408621695219642 2.5614851881302956 0.0104225685477441 1.0 0.9066281284313226 19 P50897,P07602,O15118,Q13501,P17900,O00754,P61916 7 |
| Abnormality of glycolipid metabolism 0.9685330626490496 2.547074033826678 0.0108630384317398 1.0 0.9066281284313226 7 P06280,P17900,P06865,P07602 4 |
| Psychomotor deterioration 0.9015096078146244 2.530842429117251 0.0113788953886964 1.0 0.9066281284313226 9 P50897,P07602 2 |
| Cerebral inclusion bodies 0.8504993908417589 2.5233439036244025 0.01162446562708 1.0 0.9066281284313226 12 P61916,P05067,O15118 3 |
| Exaggerated startle response 0.912518527078538 2.512248148568293 0.0119964699626415 1.0 0.9066281284313226 8 P17900,P16278,P06865 3 |
| Macular degeneration 0.8435051815047488 2.4933927922400043 0.012652878771409 1.0 0.9066281284313226 12 Q13510,P50897,P04062 3 |
| Progressive psychomotor deterioration 0.902978393195684 2.4749266922255813 0.0133263526444002 1.0 0.9066281284313226 8 P16278,P07602 2 |
| Mucosal telangiectasiae 0.8866115529408998 2.471314808352062 0.0134617255277196 1.0 0.9066281284313226 9 P10619,P06280,Q8IZA0 3 |
| Elevated circulating alanine aminotransferase concentration 0.9480147897057528 2.4704076519171085 0.0134959159694521 1.0 0.9066281284313226 7 Q15904,P10253 2 |
| Periventricular white matter hyperintensities 0.8863012905220561 2.470070326038625 0.0135086492337053 1.0 0.9066281284313226 9 O75503,P07602 2 |
| Orthostatic hypotension 0.8152355072151212 2.442968392315548 0.0145670130173538 1.0 0.9066281284313226 13 P07686,P07602 2 |
| Dysostosis multiplex 0.9401968658554132 2.4410038675342114 0.0146464979096514 1.0 0.9066281284313226 7 P54802,P15586,P04066,O00754,P10619 5 |
| Abnormal lactate dehydrogenase level 0.7969861603430184 2.406566621500465 0.0161032665956157 1.0 0.9066281284313226 16 P10253,P11310,P38571,O43505 4 |
| Abnormal cerebral artery morphology 0.7902723299926637 2.390924010581528 0.0168060308605997 1.0 0.9066281284313226 15 P10253,P05067 2 |
| Sparse body hair 0.8287875759764146 2.3614552207216253 0.0182033701781627 1.0 0.9066281284313226 11 Q02487,P53634,P14923,Q14574 4 |
| Abnormal retinal artery morphology 0.8056356195093093 2.359760754261235 0.0182867242413666 1.0 0.9066281284313226 22 P06865,P07602,P16278,P17900,P07686,Q13510,P10619 7 |
| Increased cerebral lipofuscin 0.987686344479092 2.3592420541947754 0.0183123068064943 1.0 0.9066281284313226 5 O75503,O14773,P07602 3 |
| Hypersplenism 0.913533549114426 2.339919176707722 0.0192879134466146 1.0 0.9066281284313226 7 P04062,P07602,Q14108 3 |
| Follicular hyperkeratosis 0.8630312346641464 2.316722909901751 0.0205188307572337 1.0 0.9066281284313226 8 Q07954,Q14574 2 |
| Delayed fine motor development 0.8319390319494293 2.3100610507936103 0.020884774398941 1.0 0.9066281284313226 10 Q5KU26,P19022,O60508 3 |
| Progressive neurologic deterioration 0.7876838400056017 2.3052909025428425 0.0211502867088977 1.0 0.9066281284313226 20 P54802,P16278,P07686,P07602 4 |
| Abnormality of head blood vessel 0.8021560426936558 2.3026448417994554 0.0212988339793782 1.0 0.9066281284313226 25 P06865,P07602,P10619,P16278,P17900,P07686,Q13510,P01130,P03886 9 |
| Premature ventricular contraction 0.9022991678728628 2.2969554266071723 0.0216213126018651 1.0 0.9066281284313226 7 Q14126,O43772,P19022,P14923 4 |
| Abnormal coronary artery morphology 0.9022237974810828 2.2966664400970336 0.0216378053114472 1.0 0.9066281284313226 7 P34913,P01130 2 |
| Orthostatic hypotension due to autonomic dysfunction 0.8561511398193699 2.289159163439104 0.0220701063253492 1.0 0.9066281284313226 8 P07602 1 |
| Abnormal macrophage morphology 0.9000551465868881 2.288347095857106 0.0221173159075793 1.0 0.9066281284313226 7 O15118,P15260,P16278,P61916,Q13510 5 |
| Infantile axial hypotonia 0.8260276154288998 2.2852770792883845 0.022296586039282 1.0 0.9066281284313226 10 P17900,P07602 2 |
| Akinesia 0.810720544067122 2.284156716822866 0.0223623223046693 1.0 0.9066281284313226 11 O00592,Q9NQ11 2 |
| Abnormal urine carbohydrate level 0.8250147177373315 2.28102288771854 0.0225470925542874 1.0 0.9066281284313226 10 P10253,O00754,P04066 3 |
| Abnormal morphology of the conjunctival vasculature 0.9406281041846728 2.272381896521491 0.0230634541816172 1.0 0.9066281284313226 6 P06280,P04066 2 |
| Foam cells 0.9608577263444528 2.261667931909245 0.0237179274476067 1.0 0.9066281284313226 5 P61916,Q13510,P16278,O15118 4 |
| Corpus callosum atrophy 0.7566639494127669 2.2513473547135003 0.0243635457088398 1.0 0.9066281284313226 14 O75503,O00754 2 |
| Atrophic scars 0.8452606206393127 2.245337638597917 0.0247464655018618 1.0 0.9066281284313226 8 Q8NCH0,Q07954,P53634 3 |
| Thickened ribs 0.9758421231711472 2.2365714036046236 0.0253143656628047 1.0 0.9066281284313226 4 P54802,P15586,O00754 3 |
| Oligosacchariduria 0.9758421231711464 2.23657140360462 0.0253143656628049 1.0 0.9066281284313226 4 P10253,O00754,P04066 3 |
| Bulbar signs 0.7683091146598985 2.2325452730782667 0.0255789465158602 1.0 0.9066281284313226 13 Q99720,P07602,P04062 3 |
| Osteolysis 0.7806637095503913 2.2301610809942862 0.0257367509782064 1.0 0.9066281284313226 23 P48735,Q14108,O75874,O00754,P53634,P04062 6 |
| Neurofibrillary tangles 0.9726134769227704 2.224815032033342 0.0260936578552866 1.0 0.9066281284313226 4 P61916,P05067 2 |
| Supranuclear gaze palsy 0.7723167180924243 2.2195158418388132 0.0264516506769152 1.0 0.9066281284313226 21 P07602,O15118,Q99720,P61916,Q9NQ11,P04062 6 |
| Osteoarthritis 0.7940546337419508 2.212199459134904 0.0269528862133854 1.0 0.9066281284313226 11 O75844,Q14108,P51798,P01889,Q8WVQ1,P04062 6 |
| Slow saccadic eye movements 0.808538624844523 2.2115121901523738 0.0270003886675873 1.0 0.9066281284313226 10 Q9NQ11,Q8IV08 2 |
| Hyperintensity of cerebral white matter on mri 0.76209078995781 2.200816835671414 0.027748993249151 1.0 0.9066281284313226 19 O75503,P10253,P07602 3 |
| Glomerulopathy 0.819545862735258 2.197728009497739 0.0279684942949351 1.0 0.9066281284313226 9 P01889,P06280,Q14108 3 |
| Abnormal respiratory system morphology 0.4248569849582445 2.1905528371409453 0.0284841672687834 1.0 0.9066281284313226 274 Q9UHD9,P07602,P15586,P53007,Q13148,Q96JM3,P10253,P06280,P09601,Q92804,Q9NZ08,P02786,Q14108,P15260,Q14191,P04066,Q13277,O00754,Q9BPU6,P15924,P53634,Q13510,Q14739,O96000,O75648,P54802,Q8NCH0,Q6NUK1,Q9UQN3,P28070,O96028,P16278,Q8IZA0,Q9UBM7,Q96L58,P06753,Q12768,P04062,P10644,Q15392,O75844,O75718,P35637,Q9NPL8,Q7LGA3,Q08426,Q13501,Q9Y296,P51798,Q14807,P01889 51 |
| Coronary artery atherosclerosis 0.9400690298640172 2.1853410866559013 0.0288638469842761 1.0 0.9066281284313226 5 P34913 1 |
| Decerebrate rigidity 0.9614058903308558 2.183896674332505 0.0289698414592654 1.0 0.9066281284313226 4 P07602 1 |
| Pulmonary infiltrates 0.8157418495173836 2.1819325896377233 0.029114508194423 1.0 0.9066281284313226 9 P15260,Q13510,P04062 3 |
| Progressive visual loss 0.760670691015863 2.179478024908744 0.0292961754043179 1.0 0.9066281284313226 20 O75503,P98164,P50897,O14773 4 |
| Bundle branch block 0.7709936397261614 2.176115459325354 0.0295466282379097 1.0 0.9066281284313226 12 P06280,P19022 2 |
| Aspiration 0.827994796981268 2.175383461294993 0.0296013928213203 1.0 0.9066281284313226 8 P06865 1 |
| Anarthria 0.8261034253686454 2.1676846588809284 0.0301826874889465 1.0 0.9066281284313226 8 O00592,Q99720 2 |
| Bilateral tonic clonic seizure with generalized onset 0.8255920866197628 2.1656020511744356 0.0303416095171937 1.0 0.9066281284313226 8 Q13510,P04062 2 |
| Ovoid vertebral bodies 0.8664020603138128 2.1581925249512426 0.0309128663412598 1.0 0.9066281284313226 7 P54802,P15586,P16278 3 |
| Abnormal lower motor neuron morphology 0.8090394940402442 2.154029831472754 0.031237832545484 1.0 0.9066281284313226 9 P35637,Q9UQN3,Q99720,Q13501,Q13510 5 |
| Emg chronic denervation signs 0.7510040841301554 2.153565326504405 0.0312742758928838 1.0 0.9066281284313226 13 Q13510,P07602,P39210 3 |
| Retinal detachment 0.7643330841901728 2.1463480634918524 0.0318452196408058 1.0 0.9066281284313226 12 P98164,P04439,O43505 3 |
| Arterial stenosis 0.7475312654625104 2.1376254801326 0.0325471520292368 1.0 0.9066281284313226 13 P34913,P01130 2 |
| Urinary glycosaminoglycan excretion 0.9010257904565336 2.1253630625789937 0.0335563299238321 1.0 0.9066281284313226 6 P54802,P15586,P04066 3 |
| Abnormal visual fixation 0.8574004621847924 2.123043502673422 0.0337502066243307 1.0 0.9066281284313226 7 Q5KU26,Q13510 2 |
| Young adult onset 0.7723604598748433 2.117591479367893 0.0342096804203579 1.0 0.9066281284313226 11 P07602,O15118 2 |
| Hypotension 0.7504310932391091 2.1166703474733217 0.0342878351325794 1.0 0.9066281284313226 21 P07686,P07602,O43772 3 |
| Bone pain 0.7530736640829186 2.1147021355698175 0.0344553422459954 1.0 0.9066281284313226 22 P48735,P07602,Q14108,Q08426,Q13501,O75874,P04062 7 |
| Progressive gait ataxia 0.7559123515860734 2.108563614804148 0.0349822663130379 1.0 0.9066281284313226 12 O14773,P07602 2 |
| Increased circulating lactate dehydrogenase concentration 0.7557837079887219 2.107985079978718 0.0350322800185354 1.0 0.9066281284313226 12 P10253,P38571 2 |
| Visual fixation instability 0.939552233040468 2.103631393737722 0.0354106132498217 1.0 0.9066281284313226 4 Q5KU26 1 |
| Cachexia 0.7375680765427745 2.1003337773351256 0.0356994899590605 1.0 0.9066281284313226 18 Q99720,P07602,P04062,P38571 4 |
| Abnormal heart sound 0.9142218361066714 2.089578115394691 0.0366557141170369 1.0 0.9066281284313226 5 P10253 1 |
| Ventricular tachycardia 0.7221061440997911 2.089107524535842 0.0366980451738545 1.0 0.9066281284313226 14 Q14126,P15924,P14923,O43772,P19022 5 |
| Spasticity 0.4047211391672101 2.0714241789741217 0.0383191732688736 1.0 0.9066281284313226 285 P35606,P07602,O00584,P61916,O00592,O75503,P11117,P50897,O00400,Q99720,P17900,P04066,Q5KU26,O00754,Q13510,P51970,O15118,O43505,Q9UQN3,P16278,Q96KP1,P07686,O00139,Q12768,Q9NQ11,O60508,P04062,Q15392,Q13501,P03886 30 |
| Recurrent skin infections 0.7310937652202322 2.06177212386269 0.0392294362251093 1.0 0.9066281284313226 13 P02786,P53634 2 |
| Microglossia 0.9270209255840284 2.0573256289849207 0.0396549136655188 1.0 0.9066281284313226 4 Q9UBM7 1 |
| Aplasia hypoplasia of the tongue 0.9270209255840284 2.0573256289849207 0.0396549136655188 1.0 0.9066281284313226 4 Q9UBM7 1 |
| Neonatal death 0.7290269640168873 2.052187097718236 0.0401514828944407 1.0 0.9066281284313226 13 P04062,Q14739,P15924,Q6NUK1 4 |
| Fragile skin 0.7840847829296469 2.0493288016354674 0.0404299741346791 1.0 0.9066281284313226 9 Q8NCH0,P14923,P15924 3 |
| Postural instability 0.7201916872041093 2.0485426363628743 0.0405068588410753 1.0 0.9066281284313226 16 O75503,O00592,Q9NQ11,P04062 4 |
| Right ventricular cardiomyopathy 0.9031164453973908 2.048144076864998 0.0405458841431487 1.0 0.9066281284313226 5 Q02487,Q14126,P14923 3 |
| Vertical supranuclear gaze palsy 0.7280418991948776 2.047615027387234 0.0405977357182796 1.0 0.9066281284313226 13 P61916,Q9NQ11,O15118 3 |
| Skin nodule 0.7389245572562482 2.047532960243221 0.0406057840655298 1.0 0.9066281284313226 22 P48735,P34913,O75874,P06280,Q13510,P01130 6 |
| Acantholysis 0.9205299364975548 2.033261456535855 0.0420261150170482 1.0 0.9066281284313226 4 P01889,P14923 2 |
| Delusions 0.7259897668987292 2.0302023663538344 0.0423359734147761 1.0 0.9066281284313226 19 Q9BQE5,O00754,P07602 3 |
| Chronic diarrhea 0.7203533196699061 2.0184573626902393 0.0435436504186921 1.0 0.9066281284313226 18 P07686,Q15904,P02786,Q13510 4 |
| Abnormality of lysosomal metabolism 0.9149280232552388 2.012450860103562 0.0441724317420404 1.0 0.9066281284313226 4 Q13510,P07602 2 |
| Erlenmeyer flask deformity of the femurs 0.9144731229022216 2.010759231790967 0.0443508942291337 1.0 0.9066281284313226 4 P07602,P04062 2 |
| Respiratory arrest 0.7872643645979521 2.008038894853887 0.0446391586859713 1.0 0.9066281284313226 8 Q9Y2D4,O43772,P13473,Q96L58 4 |
| Hypercholesterolemia 0.7335436627793783 2.007380941896286 0.0447091165123105 1.0 0.9066281284313226 12 Q15904,P01130,P38571 3 |
| Astrocytoma 0.8269235664699282 2.0030004418947196 0.0451772410466815 1.0 0.9066281284313226 7 O75874 1 |
| Abnormality of secondary sexual hair 0.770048246222873 1.9898781086387467 0.0466043644137816 1.0 0.9066281284313226 9 Q14574 1 |
| Hyposmia 0.7150622587219594 1.987147867719401 0.0469060130084175 1.0 0.9066281284313226 13 O00592,Q9NQ11 2 |
| Angina pectoris 0.9078125124113656 1.9859613195457988 0.0470376190491346 1.0 0.9066281284313226 4 P06280 1 |
| Subcutaneous nodule 0.7101120232486903 1.984823002784721 0.0471641673062068 1.0 0.9066281284313226 17 Q13510,P48735,P06280,O75874 4 |
| Abnormality of coordination 0.4006571820732025 1.9819644601280688 0.0474832184810369 1.0 0.9066281284313226 288 O00165,Q9NZ09,O14773,P07602,P53007,O00584,P05067,Q96IX5,Q13148,Q96JM3,P04080,P11310,P61916,O00592,Q9NZ08,O75503,P50897,Q14108,Q99720,P41440,O00754,Q9Y6M9,Q9BPU6,Q13510,O96000,P39210,Q8IV08,O15118,O96028,P16278,P07686,P06753,Q12768,Q9NQ11,P04062,O75787,P35637,Q9NPL8,P11166,Q13501,Q9BVA1,Q9Y619,P48637,P01889,P03886 45 |
| Parkinsonism with favorable response to dopaminergic medication 0.7550761439889333 1.9819375321297827 0.0474862326083675 1.0 0.9066281284313226 10 Q9NQ11,P07602 2 |
| Decreased plasma carnitine 0.7270232183134819 1.97766545068731 0.0479664602954743 1.0 0.9066281284313226 12 P11310,O43772,Q08426 3 |
| Cardiorespiratory arrest 0.905410003402512 1.9770032717963113 0.0480412603684037 1.0 0.9066281284313226 4 O43772,P13473,Q96L58 3 |
| Abnormal cartilage morphology 0.7116990161923595 1.9714122827388163 0.0486767372623946 1.0 0.9066281284313226 13 P48735,O75874 2 |
| Frontotemporal dementia 0.7251490884722178 1.9691062026402075 0.048940896733854 1.0 0.9066281284313226 12 Q9UHD9,P35637,Q9UQN3,Q13501,P05067 5 |
| Clumsiness 0.7222047288819083 1.9675081706302513 0.0491246548892276 1.0 0.9066281284313226 22 O75503,O14773,P07602,O00754,Q13510 5 |
| Rhizomelia 0.7493460650708644 1.9569703825994664 0.0503509505938781 1.0 0.9066281284313226 10 Q15392,Q14739,O75718,Q9UBM7 4 |
| Facial hypotonia 0.7352567827405367 1.9533317471528395 0.050780297990798 1.0 0.9066281284313226 11 P10253 1 |
| Hypohidrosis 0.7734242255067817 1.950441365568287 0.0511235355739283 1.0 0.9066281284313226 8 P07686,P06280 2 |
| Abnormal tongue physiology 0.7022513949866122 1.947044340739528 0.0515294189696953 1.0 0.9066281284313226 17 Q13510,P10253,Q9NQ11 3 |
| Abnormality of the abdominal organs 0.4131435388743937 1.9443954260127363 0.0518477850216645 1.0 0.9066281284313226 322 P07602,Q8N511,P15586,P11717,P10253,P11310,P61916,Q9HC07,P01130,O43772,Q14108,P15260,P04066,O00754,P53634,Q13510,P10619,Q14739,P39210,P54802,Q15904,Q8NCH0,O15118,P16278,P07686,Q9UBM7,P04062,Q15392,P38571,P01889,P03886 31 |
| Neoplasm of the adrenal gland 0.7462740317968343 1.943556501196116 0.0519489556566949 1.0 0.9066281284313226 10 O75874 1 |
| Corneal erosion 0.8747952078280499 1.9417136614768984 0.0521717739245368 1.0 0.9066281284313226 5 Q96EK5,P01889 2 |
| Disproportionate short stature 0.7168056587868602 1.9415175186879927 0.0521955365980744 1.0 0.9066281284313226 22 Q15392,O75718,Q32P28,Q7LGA3,P16278,Q9UBM7,Q14739,Q8WVQ1,P10644,Q14807 10 |
| Angiokeratoma 0.975510204081633 1.936323787055006 0.0528280572187696 1.0 0.9066281284313226 3 P06280,P04066 2 |
| Vacuolated lymphocytes 0.9755102040816332 1.936323787055006 0.0528280572187696 1.0 0.9066281284313226 3 O00754,P04066 2 |
| Sea blue histiocytosis 0.9755102040816318 1.9363237870549983 0.0528280572187704 1.0 0.9066281284313226 3 P61916,O15118 2 |
| Movement abnormality of the tongue 0.8727180784818234 1.933865641337957 0.0531296495271358 1.0 0.9066281284313226 5 P10253 1 |
| Diminished motivation 0.7212380781185476 1.9338637473253424 0.0531298824588302 1.0 0.9066281284313226 24 P06865,Q13501,P17900,O00592,Q9NQ11,P04062 6 |
| Peripheral opacification of the cornea 0.974584467973098 1.9329560608865453 0.0532416108447213 1.0 0.9066281284313226 3 P34913 1 |
| Ascites 0.720325955465879 1.9294604315118304 0.0536737277255208 1.0 0.9066281284313226 24 Q14108,O15118,P38571,P61916,Q13510,P04062 6 |
| Pituitary adenoma 0.7290823405319672 1.925700670030155 0.0541417601869742 1.0 0.9066281284313226 11 O75874 1 |
| Exostoses 0.8911335001171856 1.92362837766098 0.0544011814049285 1.0 0.9066281284313226 4 O75874 1 |
| Skin vesicle 0.7149862988171547 1.9225506401620107 0.0545365080383088 1.0 0.9066281284313226 12 Q14574 1 |
| Thickened calvaria 0.766644121772988 1.9220913866470832 0.0545942596934501 1.0 0.9066281284313226 8 P16278,O00754 2 |
| Abnormal circulating fatty acid anion concentration 0.701032267129646 1.9213233623900503 0.05469095360268 1.0 0.9066281284313226 13 P11310,O43772,Q08426 3 |
| Hypocholesterolemia 0.7656002197966756 1.9177187203486017 0.0551466867050762 1.0 0.9066281284313226 8 P07602 1 |
| Periventricular heterotopia 0.7530250142901225 1.9172451313460908 0.0552067969364757 1.0 0.9066281284313226 9 P19022,Q9UBM7 2 |
| Multiple prenatal fractures 0.8457858977482479 1.916303794005498 0.0553264382416212 1.0 0.9066281284313226 6 O75718,Q14739,P06753 3 |
| Cerebral palsy 0.7399123495053991 1.9157158599362456 0.055401272566748 1.0 0.9066281284313226 10 O75874 1 |
| Abnormal pericardium morphology 0.7396461513522954 1.9145490610843732 0.0555500366745107 1.0 0.9066281284313226 10 P01889,Q14108,P04062 3 |
| Postural tremor 0.6954037900078812 1.9140068127853496 0.0556192852575199 1.0 0.9066281284313226 17 Q9NQ11,O14773,Q14108 3 |
| Primitive reflex 0.8042466363132301 1.9126576008203648 0.0557919004426881 1.0 0.9066281284313226 7 P17900 1 |
| Beaking of vertebral bodies 0.7494614744837585 1.9019675840767596 0.0571753925786078 1.0 0.9066281284313226 9 P16278,P04066,Q96L58 3 |
| Increased ldl cholesterol concentration 0.7357124262182543 1.8972896597449191 0.0577897189564589 1.0 0.9066281284313226 10 P34913,P01130,P38571 3 |
| Hyperlipoproteinemia 0.7357124262182543 1.8972896597449191 0.0577897189564589 1.0 0.9066281284313226 10 P34913,P01130,P38571 3 |
| Sparse eyelashes 0.6919465533903391 1.8972819351133432 0.0577907379099158 1.0 0.9066281284313226 17 Q02487,P04080,P15924,Q14574 4 |
| Anorexia 0.7070732376411895 1.8944840552986004 0.0581607887967354 1.0 0.9066281284313226 22 P15260,P06280,Q14108,P04062 4 |
| Recurrent aspiration pneumonia 0.8622564271647762 1.894253052074276 0.0581914293442213 1.0 0.9066281284313226 5 Q13510,P04062 2 |
| Difficulty in tongue movements 0.9638844752054316 1.8939739053293616 0.0582284736011717 1.0 0.9066281284313226 3 P10253 1 |
| Abnormal macular morphology 0.7073708675552399 1.8812369786032712 0.0599396895700408 1.0 0.9066281284313226 23 Q13510,P50897,P04062 3 |
| Agnosia 0.7568149779217711 1.8808380266859568 0.0599939556049253 1.0 0.9066281284313226 8 P05067,Q9UQN3 2 |
| Bone marrow foam cells 0.9602040816326536 1.880541883940388 0.0600342637229804 1.0 0.9066281284313226 3 P61916,O15118 2 |
| Abnormal upper motor neuron morphology 0.7442818016582411 1.8797167992467212 0.0601466848169649 1.0 0.9066281284313226 9 P35637,Q99720,Q13501 3 |
| Cupped ear 0.7310408925089136 1.8767516241750968 0.0605521435304803 1.0 0.9066281284313226 10 Q15392,Q96ST3,P42892 3 |
| Confusion 0.6935514729935774 1.874068421563272 0.0609209951285845 1.0 0.9066281284313226 19 P11166,P01889,P05067,O00754,Q9NZ08,Q9NQ11 6 |
| Abnormal conjunctiva morphology 0.708825295961876 1.8737657250347524 0.0609627224792774 1.0 0.9066281284313226 24 P01889,P04066,P06280,Q13510,P10619,P02786 6 |
| Perseveration 0.7548001340777709 1.8723592759608412 0.0611569151294237 1.0 0.9066281284313226 8 P61916,P35637,Q13501,Q9UQN3 4 |
| Progressive spasticity 0.6834708806435253 1.8719568971678953 0.0612125669409697 1.0 0.9066281284313226 16 P17900,P07602 2 |
| Disproportionate short limb short stature 0.6896033464109468 1.8703299265816231 0.0614380161999168 1.0 0.9066281284313226 18 Q15392,O75718,Q32P28,Q7LGA3,Q9UBM7,Q14739,Q8WVQ1,P10644 8 |
| Neuronal loss in central nervous system 0.6900913834247123 1.869661552005817 0.061530831864037 1.0 0.9066281284313226 13 P07602,O15118,P04062 3 |
| Psoriasiform dermatitis 0.9568851843944112 1.8684190869033133 0.0617036786584854 1.0 0.9066281284313226 3 P10321 1 |
| Elevated circulating aspartate aminotransferase concentration 0.7415669575755747 1.8680334192536343 0.0617574128753324 1.0 0.9066281284313226 9 Q15904 1 |
| Pedal edema 0.832017527975621 1.863500815641245 0.0623918378933026 1.0 0.9066281284313226 6 Q14108 1 |
| Parathyroid adenoma 0.8523103625206643 1.8564630800804964 0.0633875807458639 1.0 0.9066281284313226 5 O75874 1 |
| Neoplasm of the parathyroid gland 0.8523103625206643 1.8564630800804964 0.0633875807458639 1.0 0.9066281284313226 5 O75874 1 |
| Abnormality of the parathyroid morphology 0.8523103625206643 1.8564630800804964 0.0633875807458639 1.0 0.9066281284313226 5 O75874 1 |
| Pericardial effusion 0.8515267694748351 1.85348055678732 0.0638135104387034 1.0 0.9066281284313226 5 Q14108 1 |
| Nasogastric tube feeding in infancy 0.7483336201078196 1.8450963563254723 0.0650235231618538 1.0 0.9066281284313226 8 P07602,O75648 2 |
| Mutism 0.6737655114566262 1.8407518316526073 0.0656579345106924 1.0 0.9066281284313226 15 P35637,Q9UQN3,Q13501,P53701,Q13510 5 |
| Partial agenesis of the corpus callosum 0.7081386086058415 1.831359476966142 0.0670469055408757 1.0 0.9066281284313226 11 Q15392,P98164 2 |
| Abnormality of the axillary hair 0.7838300699335057 1.8305962275353431 0.0671608320567087 1.0 0.9066281284313226 7 Q14574 1 |
| Atrioventricular canal defect 0.7836021725103396 1.8296764536855152 0.0672983338613906 1.0 0.9066281284313226 7 P19022,Q9UBM7 2 |
| Neoplasm of the pituitary gland 0.6681600324884354 1.8296386714842583 0.0673039870705394 1.0 0.9066281284313226 14 O75874 1 |
| Undetectable electroretinogram 0.8447872202596036 1.82779714816778 0.0675800013990368 1.0 0.9066281284313226 5 O14773 1 |
| Horizontal nystagmus 0.6945304654087406 1.8187350006069536 0.0689518691607982 1.0 0.9066281284313226 23 Q9NQ11,O14773,P07602 3 |
| Supernumerary nipple 0.7296485146302887 1.8165732792720524 0.0692824779951932 1.0 0.9066281284313226 9 P19022 1 |
| Hallucinations 0.7512284457611957 1.8141004422264175 0.06966226350488 1.0 0.9066281284313226 45 O75503,P50897,P07602,Q9BQE5,P05067,O00754,O00592,Q9NQ11,P19022,P04062 10 |
| Visual hallucinations 0.8407769814688502 1.8124884933850185 0.0699107502906239 1.0 0.9066281284313226 5 Q9NQ11 1 |
| Shock 0.8615747623538195 1.8123728973243105 0.0699285976937522 1.0 0.9066281284313226 4 P14923 1 |
| Glioma 0.703579185683316 1.8106972918009316 0.0701877223127172 1.0 0.9066281284313226 11 O75874 1 |
| Slurred speech 0.7398190119098031 1.809081416834348 0.0704383556394612 1.0 0.9066281284313226 8 O00592 1 |
| Avascular necrosis 0.6831343351165394 1.8080335526509237 0.0706012786765095 1.0 0.9066281284313226 20 O75844,Q14108,P01889,P51798,O00754,Q9NZ08,P04062 7 |
| Toxemia of pregnancy 0.8382025715147683 1.8026507954306357 0.0714430742589056 1.0 0.9066281284313226 5 O43772 1 |
| Thoracolumbar kyphosis 0.8375719006129232 1.8002395850381103 0.0718228158289413 1.0 0.9066281284313226 5 O00754 1 |
| Sclerocornea 0.7370000981695037 1.797128998524013 0.0723151430283499 1.0 0.9066281284313226 8 P53701,Q6NUK1,Q9UBM7 3 |
| Abnormal autonomic nervous system physiology 0.7098562752488236 1.7948067082524954 0.0726845016498114 1.0 0.9066281284313226 30 P07602,P07686,P06280,P42892,O00592,P04062 6 |
| Coxa valga 0.6740923963381286 1.7947194906087778 0.0726984035843123 1.0 0.9066281284313226 18 O75844,P16278,P04066,O00754,Q96L58,Q8WVQ1 6 |
| Esophageal varix 0.8567522078990704 1.7941311900313908 0.072792231791932 1.0 0.9066281284313226 4 P04062 1 |
| Abnormal anterior eye segment morphology 0.3849782448314131 1.7856201025207954 0.0741607897641738 1.0 0.9066281284313226 280 Q07021,P34913,P06280,Q96ST3,P01130,Q9NZ08,Q8WVQ1,O00400,P62899,Q14191,P04066,O60828,O00754,Q9BPU6,Q96EK5,Q13510,P10619,P98164,Q14739,P39210,O75648,Q8NCH0,Q6NUK1,O43505,O96028,P16278,O14979,P53701,Q9UBM7,Q96L58,Q12768,Q10471,P19022,P04062,P10644,O75844,P11166,Q7LGA3,Q9Y296,P04439,P01889,P03886 42 |
| Abnormal larynx physiology 0.6621634156326773 1.784062556544793 0.0744135007157758 1.0 0.9066281284313226 15 Q9UHD9,P35637,Q9UQN3,Q13501,Q92804,Q13510 6 |
| Heart block 0.683907685682515 1.78160534967327 0.0748136114358566 1.0 0.9066281284313226 22 P19022,P06280,O43772,Q07954 4 |
| Abnormal ldl cholesterol concentration 0.6577968557634741 1.7789516171948982 0.0752476945204927 1.0 0.9066281284313226 14 P34913,P01130,P38571 3 |
| Facial hemangioma 0.8524580026083163 1.777867830831542 0.0754255647542825 1.0 0.9066281284313226 4 Q9UBM7 1 |
| Abnormal pulmonary thoracic imaging finding 0.6799296875093159 1.7771503940767677 0.075543498638988 1.0 0.9066281284313226 21 P15260,P15924,Q96L58,Q13510,P01889,P04062 6 |
| Abnormal circulating cholesterol concentration 0.708422316720501 1.77428364051933 0.0760162451965342 1.0 0.9066281284313226 31 Q15392,Q15904,P07602,Q8N511,P34913,P38571,Q9UBM7,P61916,P01130 9 |
| Abnormal intraocular pressure 0.8500079205481574 1.768580324469494 0.0769639366312697 1.0 0.9066281284313226 4 Q8NCH0,P04439 2 |
| Short stepped shuffling gait 0.928984390270074 1.766150873616198 0.0773705403771152 1.0 0.9066281284313226 3 O00592 1 |
| Abnormal metabolic brain imaging by mrs 0.6616971046410774 1.7656543157461295 0.0774538615518103 1.0 0.9066281284313226 16 P07602 1 |
| Hyperconvex nail 0.7295211470635804 1.7653486146323114 0.0775051937816146 1.0 0.9066281284313226 8 O96028,P48651,P42892 3 |
| Abnormality of the sense of smell 0.6601268118111083 1.75794348291132 0.0787571261950519 1.0 0.9066281284313226 16 O00592,Q9NQ11 2 |
| Abnormality of neutrophil morphology 0.8261311118509507 1.7564180008643198 0.0790170614304694 1.0 0.9066281284313226 5 P41440 1 |
| Abnormality of the alveolar ridges 0.7648909957766132 1.7538837547891606 0.0794504277473167 1.0 0.9066281284313226 7 Q9UBM7,P53634 2 |
| Hypomimic face 0.6657430711776724 1.7536762423311805 0.0794859986472409 1.0 0.9066281284313226 13 O00592,Q9NQ11 2 |
| Woolly hair 0.8029498774466985 1.751166515462377 0.0799172314350686 1.0 0.9066281284313226 6 Q02487,P14923 2 |
| Cataplexy 0.8440094819922996 1.745817010463215 0.0808427541636374 1.0 0.9066281284313226 4 P61916 1 |
| Syncope 0.724524957501812 1.7440630604999825 0.0811480944021725 1.0 0.9066281284313226 8 Q02487,P14923,P15924 3 |
| Diplopia 0.6663645248306311 1.7412129750341074 0.0816462537329014 1.0 0.9066281284313226 19 O00592,P01889,O14773,P04062 4 |
| Endocarditis 0.8206804153426507 1.7354877370666428 0.082654451697171 1.0 0.9066281284313226 5 P01889,Q9NZ08,P04062 3 |
| Aganglionic megacolon 0.6486149374093226 1.733824254014031 0.0829492708346941 1.0 0.9066281284313226 14 P42892,Q9UBM7 2 |
| Dysgraphia 0.6477557890145135 1.72959139685023 0.0837033042162775 1.0 0.9066281284313226 14 Q13501,P05067 2 |
| Osteopetrosis 0.9183673469387772 1.7270817472005593 0.0841529831989356 1.0 0.9066281284313226 3 Q15392,P48651 2 |
| Abnormal epidermal morphology 0.6570574935974476 1.7268569258812854 0.0841933619247292 1.0 0.9066281284313226 17 Q14574,Q07954,P14923,Q02487,P01889 5 |
| Bicornuate uterus 0.7965487857269583 1.7262796016919295 0.0842971232852529 1.0 0.9066281284313226 6 P98164 1 |
| Ulnar deviation of the hand or of fingers of the hand 0.6722555913149141 1.7242504564866172 0.0846626389652431 1.0 0.9066281284313226 12 Q96L58,Q14739,Q9BPU6,Q9UBM7 4 |
| Aplasia hypoplasia involving the vertebral column 0.6722453684367304 1.7242025376704253 0.084671286189641 1.0 0.9066281284313226 12 P16278,Q14739,P04066 3 |
| Abnormality of skull ossification 0.6721058834938816 1.7235486925681298 0.0847893476797123 1.0 0.9066281284313226 12 P54802,O75844,O75718,Q6NUK1,Q14739 5 |
| Bilateral external ear deformity 0.9170382670595258 1.722185556191267 0.0850359104774745 1.0 0.9066281284313226 3 P14923 1 |
| Meningitis 0.8164007127400732 1.7190309872346277 0.0856087297099006 1.0 0.9066281284313226 5 P01889,P02786 2 |
| Bradycardia 0.6833398910115299 1.7184572463737589 0.085713246302234 1.0 0.9066281284313226 11 O43772,P51970 2 |
| Platyspondyly 0.6970485975055574 1.718232314023875 0.0857542496595646 1.0 0.9066281284313226 31 P48735,Q6NUK1,Q9Y2Q9,P16278,P04066,O75874,O00754,Q96L58,Q9Y2D4,Q14739,Q8WVQ1,Q14807 12 |
| Inappropriate behavior 0.6520315058534935 1.718099329370074 0.0857784991472305 1.0 0.9066281284313226 16 Q13501,P17900,P07602 3 |
| Multiple enchondromatosis 0.7943122255381414 1.717571856285258 0.0858747374030231 1.0 0.9066281284313226 6 O75874 1 |
| Xanthomatosis 0.8356536626710924 1.7140501986876544 0.0865195069600714 1.0 0.9066281284313226 4 P34913 1 |
| Abnormal endocardium morphology 0.6566645280144701 1.7100817179460626 0.0872507629628775 1.0 0.9066281284313226 13 Q9NZ08,P01889,P06280,P04062 4 |
| Sepsis 0.65330365963846 1.7083469908339262 0.0875719769185225 1.0 0.9066281284313226 17 P42892,P02786 2 |
| Hypoplasia of the iris 0.7913360054414615 1.7059747053000336 0.0880127892115305 1.0 0.9066281284313226 6 P98164,Q7LGA3 2 |
| Elevated serum acid phosphatase 0.9126279006955867 1.7059300672192992 0.088021100870284 1.0 0.9066281284313226 3 P07602 1 |
| Pulmonary interstitial high resolution computed tomography abnormality 0.8333760232781791 1.705379926547836 0.0881235896369485 1.0 0.9066281284313226 4 Q13510 1 |
| Tapered distal phalanges of finger 0.9117020406751712 1.7025160235130334 0.0886586773151671 1.0 0.9066281284313226 3 P53634 1 |
| Abnormal csf protein level 0.6541692679031088 1.698067509464102 0.0894950209363765 1.0 0.9066281284313226 13 P07602 1 |
| Capillary hemangioma 0.7870462032297638 1.689239929360001 0.0911734599058129 1.0 0.9066281284313226 6 Q9UBM7 1 |
| Abnormality of nail color 0.748914645279457 1.688750981079017 0.091267161252452 1.0 0.9066281284313226 7 Q02487,Q14574 2 |
| Leukonychia 0.748914645279457 1.688750981079017 0.091267161252452 1.0 0.9066281284313226 7 Q02487,Q14574 2 |
| Spinal muscular atrophy 0.6766558419265372 1.687813057639962 0.091447120235133 1.0 0.9066281284313226 11 Q99720 1 |
| Premature loss of primary teeth 0.907482993197286 1.6869519509823452 0.0916125914447554 1.0 0.9066281284313226 3 P51798,P53634 2 |
| Neoplasm of the adrenal cortex 0.8276875077630159 1.6837052164829809 0.0922386527129779 1.0 0.9066281284313226 4 O75874 1 |
| Abnormal dermoepidermal junction morphology 0.9062041851962076 1.6822323269634123 0.092523797843242 1.0 0.9066281284313226 3 P14923 1 |
| Chondrosarcoma 0.9057823129251767 1.68067513734858 0.0928260324175134 1.0 0.9066281284313226 3 P48735,O75874 2 |
| Nephropathy 0.6537352208211514 1.6789046505274867 0.0931706280567039 1.0 0.9066281284313226 19 P06280,Q14108 2 |
| Hypopigmented skin patches 0.6660429184997594 1.6786844217918848 0.0932135635922397 1.0 0.9066281284313226 23 P07602,Q8IZA0,P53634 3 |
| Cheilitis 0.8255894593591389 1.6757039716023956 0.0937961915143259 1.0 0.9066281284313226 4 Q14574 1 |
| Angular cheilitis 0.8255894593591389 1.6757039716023956 0.0937961915143259 1.0 0.9066281284313226 4 Q14574 1 |
| Macular atrophy 0.7819509488276919 1.669334231480471 0.0950511597786709 1.0 0.9066281284313226 6 P04062 1 |
| Gray matter heterotopia 0.6640541719069413 1.6688385954982663 0.0951493715116071 1.0 0.9066281284313226 23 P35606,Q6NUK1,O43505,Q00534,O00139,Q9UBM7,P19022 7 |
| Abnormality of the humeroradial joint 0.706665850407775 1.6676253417393911 0.095390124362571 1.0 0.9066281284313226 8 Q9Y2D4,P48651,P10644,Q96L58 4 |
| Breast carcinoma 0.6409803873141362 1.6634613911439011 0.0962201131082047 1.0 0.9066281284313226 16 P48735,O75874 2 |
| Abnormality of the radioulnar joints 0.8222277287835753 1.662875671235254 0.0963373252645389 1.0 0.9066281284313226 4 Q9Y2D4,Q96L58 2 |
| Radioulnar dislocation 0.8222277287835753 1.662875671235254 0.0963373252645389 1.0 0.9066281284313226 4 Q9Y2D4,Q96L58 2 |
| Hypoplastic ilia 0.693826983493205 1.6603086563508402 0.0968523751962116 1.0 0.9066281284313226 9 O00754,Q96L58 2 |
| Ulnar deviation of the hand 0.8206609177790141 1.6568935287121582 0.0975410029490571 1.0 0.9066281284313226 4 Q9BPU6 1 |
| Echolalia 0.6815602078085226 1.6565468046222775 0.0976111348055532 1.0 0.9066281284313226 10 Q13501,P53701,Q9UQN3 3 |
| Premature arteriosclerosis 0.898875857106407 1.6551681451047773 0.0978903949427258 1.0 0.9066281284313226 3 P01130 1 |
| Elevated pulmonary artery pressure 0.6582431144749222 1.6550823129301149 0.0979078021236572 1.0 0.9066281284313226 22 Q14108,Q6NUK1,Q8IZA0,P51798,P04062,P01889,P03886,O96000,P51970 9 |
| Abnormality of lipoprotein cholesterol concentration 0.63524101550957 1.6512772635974924 0.0986819726921777 1.0 0.9066281284313226 15 P34913,P01130,P38571 3 |
| Prolonged neonatal jaundice 0.6413824689629426 1.649350794662365 0.0990757890703475 1.0 0.9066281284313226 17 P61916,Q15904,O15118,P39210 4 |
| Generalized hyperkeratosis 0.7978939610391671 1.6476448068595402 0.0994255801057688 1.0 0.9066281284313226 5 P04066 1 |
| Diffuse cerebral atrophy 0.6408148274376864 1.646533668128636 0.0996539343005629 1.0 0.9066281284313226 17 P16278,P07602 2 |
| Extramedullary hematopoiesis 0.8175945935579004 1.6451803923379242 0.0999326157969253 1.0 0.9066281284313226 4 Q9NRW7,Q14739 2 |
| Hypertonia 0.4034739316983259 1.6423769232523786 0.1005119143354222 1.0 0.9066281284313226 344 P35606,P07602,O00584,P05067,P61916,O00592,O75503,P11117,P50897,P06865,O00400,Q99720,P17900,P04066,Q5KU26,O00754,Q13510,Q14739,P51970,O15118,O43505,Q9UQN3,P16278,Q96KP1,P07686,O00139,Q9UBM7,Q12768,Q9NQ11,O60508,P04062,Q15392,Q7LGA3,Q13501,P03886 35 |
| Aortic valve stenosis 0.775030859159342 1.6422506035133009 0.1005380794679311 1.0 0.9066281284313226 6 Q12768,P16278,P04062 3 |
| Dyslexia 0.700650134151739 1.6417579108377538 0.1006401848336864 1.0 0.9066281284313226 8 Q13501,P11166,Q9UQN3 3 |
| Sparse or absent eyelashes 0.6614883574576287 1.6412346928038388 0.1007487067211356 1.0 0.9066281284313226 24 Q14574,P04080,Q07954,P15924,P14923,Q02487 6 |
| Increased bone mineral density 0.6583628253014532 1.6406143388962884 0.1008774965928669 1.0 0.9066281284313226 23 P54802,Q15392,Q14108,Q13501,Q14191,P48651,Q14739,P04062 8 |
| Increased intracranial pressure 0.6362648239469808 1.6400630011403867 0.1009920682897935 1.0 0.9066281284313226 16 P01889,Q9NZ08,P07602 3 |
| Shuffling gait 0.6659338508684104 1.6384747248353788 0.1013227023628535 1.0 0.9066281284313226 11 O00592 1 |
| Abnormal erythrocyte sedimentation rate 0.6997046661008853 1.6376870912140382 0.1014869848115243 1.0 0.9066281284313226 8 P15260,P01889 2 |
| Prenatal maternal abnormality 0.6653970964282252 1.635999043100253 0.1018397876648151 1.0 0.9066281284313226 11 O43772 1 |
| Parkinsonism 0.6743989957897796 1.6334292458612845 0.102378750285893 1.0 0.9066281284313226 29 P07602,Q99720,Q13501,P05067,Q9NQ11,P04062 6 |
| Diminished movement 0.6527300109604027 1.6277119287308004 0.1035859825429996 1.0 0.9066281284313226 22 O00592,Q9NQ11,P13473 3 |
| Hypokinesia 0.6269873650715868 1.626748531919475 0.1037905166991379 1.0 0.9066281284313226 14 Q9NQ11,P13473 2 |
| Calcification of the aorta 0.7917027657298707 1.6236873833081895 0.1044425450676755 1.0 0.9066281284313226 5 P01130 1 |
| Recurrent bacterial infections 0.6456700382593605 1.623319223232527 0.1045211822779468 1.0 0.9066281284313226 20 P15260,O00754,P53634 3 |
| Pneumothorax 0.7320905410259786 1.6197698078806402 0.1052817341932077 1.0 0.9066281284313226 7 Q8NCH0,Q6NUK1 2 |
| Abnormal cervical spine morphology 0.790475190308796 1.618932886120962 0.1054617041429755 1.0 0.9066281284313226 5 P04066 1 |
| Delayed ability to sit 0.6250684645957438 1.61719721448381 0.1058357174305983 1.0 0.9066281284313226 14 P10253,Q9BPU6 2 |
| Laryngomalacia 0.6372836658525981 1.6164131910619606 0.1060050082484236 1.0 0.9066281284313226 13 P07602 1 |
| Epidermal acanthosis 0.6833973945341705 1.6143845246019586 0.1064440463180695 1.0 0.9066281284313226 9 Q02487,P14923,Q14574 3 |
| Central apnea 0.6937502383096451 1.6120169463163831 0.1069582521345386 1.0 0.9066281284313226 8 P07602 1 |
| Heparan sulfate excretion in urine 0.8870786707413808 1.6115412728783878 0.1070617989959512 1.0 0.9066281284313226 3 P15586 1 |
| Falls 0.6935746798441175 1.6112592486678532 0.107123228864336 1.0 0.9066281284313226 8 Q9NQ11,Q9BQT8 2 |
| Joint subluxation 0.7665017697646209 1.6087950530292647 0.1076611629618009 1.0 0.9066281284313226 6 P16278,Q96L58,Q14807 3 |
| Unexplained fevers 0.7658893263045504 1.6063896516857863 0.1081883231638407 1.0 0.9066281284313226 6 P07602 1 |
| Vascular tortuosity 0.8062954618315572 1.6019553873699577 0.1091654751457462 1.0 0.9066281284313226 4 P05067 1 |
| Reduced systolic function 0.8840136054421814 1.6001958031253918 0.1095551529106064 1.0 0.9066281284313226 3 P15924,P14923 2 |
| Cranial hyperostosis 0.6455363641722808 1.5982740595071918 0.1099819978858427 1.0 0.9066281284313226 12 O00754,P48651,Q96L58 3 |
| Abnormal circulating igg level 0.6452358087777128 1.596848933827422 0.1102993851545313 1.0 0.9066281284313226 12 P15260 1 |
| Abnormal protein o linked glycosylation 0.8829931972789208 1.5964178311516375 0.1103955376926255 1.0 0.9066281284313226 3 Q15904,Q8N511 2 |
| Dyscalculia 0.6677179286445878 1.5941219272304696 0.1109087285939658 1.0 0.9066281284313226 10 P35637,Q13501,Q9UQN3 3 |
| Abnormal sella turcica morphology 0.7627480785047508 1.594045927943473 0.1109257484526851 1.0 0.9066281284313226 6 O00754 1 |
| Cardiomegaly 0.6798890878587567 1.5928544807924137 0.111192839847386 1.0 0.9066281284313226 34 P54802,P04066,P07686,P10253,P11310,P15924,P14923,P04062,P13473 9 |
| Gingival bleeding 0.6674132104356849 1.5927439836131705 0.1112176361348891 1.0 0.9066281284313226 10 Q14108 1 |
| Acquired abnormal hair pattern 0.7835262083049779 1.5919932053774968 0.111386231259654 1.0 0.9066281284313226 5 O60828,O75844,P11166,Q96CW1 4 |
| Telangiectasia of the skin 0.6292235264909857 1.588854354568471 0.1120932784442141 1.0 0.9066281284313226 17 P06280,Q14191,Q8IZA0 3 |
| Multifactorial inheritance 0.6543543795777209 1.5849484952499189 0.1129780368680117 1.0 0.9066281284313226 11 P42892,P10321 2 |
| Urinary urgency 0.6536165040686863 1.5815294172750027 0.1137570382193979 1.0 0.9066281284313226 11 Q12768,Q9NQ11,P04062 3 |
| Enchondroma 0.6750149957464266 1.5773443460429712 0.1147163137175417 1.0 0.9066281284313226 9 O75874 1 |
| Corneal opacity 0.7081360890081547 1.5765591050529253 0.1148970087989473 1.0 0.9066281284313226 47 P10619,O43505,P16278,P04066,P34913,P06280,O00754,Q9UBM7,Q13510,P01130 10 |
| Hypoplasia of the frontal lobes 0.7206645221609901 1.5727066581142115 0.1157867574428452 1.0 0.9066281284313226 7 P35606,Q9UBM7 2 |
| Distal arthrogryposis 0.7980576465086162 1.5703834917796304 0.1163259206655564 1.0 0.9066281284313226 4 Q8NCH0,P11310 2 |
| Weak voice 0.7201006315087763 1.5703797489421063 0.1163267908965877 1.0 0.9066281284313226 7 O00592 1 |
| Resting tremor 0.6349810041977326 1.5700494334735848 0.1164036112701576 1.0 0.9066281284313226 20 O00592,Q9NQ11,P07602 3 |
| Advanced eruption of teeth 0.6727353215275731 1.567251484195769 0.1170559206901227 1.0 0.9066281284313226 9 P14923,P15924,Q9UBM7 3 |
| Increased circulating antibody level 0.6183295261723111 1.5670298537587306 0.1171077136903222 1.0 0.9066281284313226 15 P15260,Q14108 2 |
| Absent facial hair 0.6614187272263333 1.5656049802287837 0.1174411233632115 1.0 0.9066281284313226 10 Q07954,P14923 2 |
| Vascular calcification 0.7554071820477088 1.5651591802090463 0.1175455900878366 1.0 0.9066281284313226 6 P01130 1 |
| Abnormal lumbar spine morphology 0.6825518733081439 1.5635910503831445 0.1179136379682694 1.0 0.9066281284313226 8 O00754 1 |
| Epiphyseal dysplasia 0.7543995237698651 1.5611897173891165 0.1184789944165258 1.0 0.9066281284313226 6 Q9HC07,Q8WVQ1,Q96L58 3 |
| Multiple joint dislocation 0.873129251700682 1.559876604303624 0.1187890441997336 1.0 0.9066281284313226 3 Q9Y2D4,Q96L58 2 |
| Schizophrenia 0.6265146442518157 1.5592962517264064 0.1189262784833737 1.0 0.9066281284313226 18 Q9BQE5,P07602 2 |
| Broad ribs 0.7948697550851824 1.5581537005200676 0.1191968173820554 1.0 0.9066281284313226 4 P16278 1 |
| Skin ulcer 0.65611313084852 1.5563092573399189 0.1196345711687136 1.0 0.9066281284313226 28 P48735,Q14191,Q8IZA0,O75874,P01889,Q14739,P04062 7 |
| Alopecia totalis 0.7733903518460292 1.552624280010555 0.1205129215958322 1.0 0.9066281284313226 5 P15924,P14923 2 |
| Opisthotonus 0.6404981420798906 1.5515769592238835 0.1207634797624139 1.0 0.9066281284313226 23 P11117,Q99720,P07602,P04062 4 |
| Venous thrombosis 0.6233742313785009 1.5487081830134393 0.1214518858747522 1.0 0.9066281284313226 13 P48735,P01889,O75874,Q9NZ08,P10644 5 |
| Anophthalmia 0.6789950958241604 1.5481710263767858 0.121581125184464 1.0 0.9066281284313226 8 O43505 1 |
| Metatarsus adductus 0.6232510878648878 1.5481070728734476 0.1215965194904225 1.0 0.9066281284313226 13 Q15392,Q96L58,Q9UBM7 3 |
| Recurrent infection of the gastrointestinal tract 0.7719272906815355 1.5469346874700909 0.1218789956195882 1.0 0.9066281284313226 5 P15260 1 |
| Abnormal large intestine physiology 0.63337817644164 1.546511668877074 0.121981044150766 1.0 0.9066281284313226 21 P06280,P07602 2 |
| Middle age onset 0.6674077414956543 1.54363306735995 0.1226772495188002 1.0 0.9066281284313226 9 P07602 1 |
| Abnormal head movements 0.6445183917406309 1.539293420853214 0.1237326794012383 1.0 0.9066281284313226 11 Q99720,P11166 2 |
| Fluctuations in consciousness 0.6768803891861426 1.5389942683082016 0.1238056955324751 1.0 0.9066281284313226 8 P04062 1 |
| Ascending tubular aorta aneurysm 0.7695309088017079 1.5376119998024629 0.1241435116658147 1.0 0.9066281284313226 5 P01889,Q96L58 2 |
| Abnormality of the parathyroid gland 0.6282169561180909 1.536219377823114 0.124484584964216 1.0 0.9066281284313226 20 O75874,P48735 2 |
| Insidious onset 0.7877708993414287 1.5308980282113764 0.1257945966427613 1.0 0.9066281284313226 4 P04062 1 |
| Eeg with spike wave complexes 0.6077482306391818 1.5306302752583674 0.1258607948873296 1.0 0.9066281284313226 14 O75503,Q14108,P11166 3 |
| Coarse hair 0.6207176331591023 1.5302778436728366 0.1259479701285857 1.0 0.9066281284313226 18 P54802,P15586 2 |
| Narrow vertebral interpedicular distance 0.8650188757600377 1.529807161130016 0.1260644685228973 1.0 0.9066281284313226 3 P10644 1 |
| Vertebral arch anomaly 0.8650188757600377 1.529807161130016 0.1260644685228973 1.0 0.9066281284313226 3 P10644 1 |
| Dicarboxylic aciduria 0.6324780765734567 1.5266255351729792 0.1268541536238339 1.0 0.9066281284313226 22 P48735,O43772 2 |
| Leg muscle stiffness 0.7865232886774003 1.5261049170910563 0.1269837377101244 1.0 0.9066281284313226 4 O00592 1 |
| Communicating hydrocephalus 0.7664589837060034 1.5256549139937257 0.1270958284102294 1.0 0.9066281284313226 5 O00754 1 |
| Bilateral talipes equinovarus 0.7445567314243429 1.5223641607240173 0.1279178597199859 1.0 0.9066281284313226 6 O00754 1 |
| High frequency sensorineural hearing impairment 0.7854254759381417 1.5218866058546832 0.1280374958494312 1.0 0.9066281284313226 4 Q13510 1 |
| Degeneration of the lateral corticospinal tracts 0.6620603548682163 1.5198836183410684 0.12854022834293 1.0 0.9066281284313226 9 Q9NZ09,O00400,P35637,Q13501,Q12768 5 |
| Ventricular preexcitation 0.6512269606054906 1.5193286847822869 0.1286797829019512 1.0 0.9066281284313226 10 P10253,P13473 2 |
| Hip subluxation 0.7071001604787507 1.5166272664155052 0.1293608172290832 1.0 0.9066281284313226 7 Q96L58,Q14807,Q9UBM7 3 |
| Disproportionate short trunk short stature 0.783967080839576 1.5162817790844196 0.1294481169676529 1.0 0.9066281284313226 4 P16278 1 |
| Abnormal circulating igm level 0.6167059909383567 1.5161166122693193 0.1294898684356438 1.0 0.9066281284313226 13 P15260 1 |
| Chronic pulmonary obstruction 0.7428475426157612 1.5156128893806868 0.1296172659181507 1.0 0.9066281284313226 6 P06280 1 |
| Abnormal sharpey fiber morphology 0.7636737775852094 1.5148079063273114 0.1298210576668963 1.0 0.9066281284313226 5 P01889 1 |
| Sparse and thin eyebrow 0.6390068780674593 1.5136390273811964 0.1301174170262751 1.0 0.9066281284313226 11 P14923,P15924 2 |
| Mitral stenosis 0.7832596121129464 1.5135624742382492 0.1301368447326321 1.0 0.9066281284313226 4 O75844,Q9UQR1,P04062 3 |
| Absent hair 0.6277013199069101 1.5134168270897772 0.1301738133765781 1.0 0.9066281284313226 12 Q07954,P14923 2 |
| Thoracic kyphosis 0.6041454061171987 1.5125459697660382 0.1303950273609446 1.0 0.9066281284313226 14 O00754 1 |
| Concentric hypertrophic cardiomyopathy 0.78290694619961 1.512206832908535 0.1304812533129085 1.0 0.9066281284313226 4 P03886 1 |
| Eeg with polyspike wave complexes 0.7418066660387014 1.5115001493598104 0.1306610705801403 1.0 0.9066281284313226 6 P04080,Q14108,P11166 3 |
| Micromelia 0.6231499985278011 1.5108183775569286 0.1308347311271331 1.0 0.9066281284313226 20 Q15392,P48735,O75874,Q9UBM7,Q14739,P10644 6 |
| Hyperorality 0.762180128915667 1.5089886232274037 0.1313016901583823 1.0 0.9066281284313226 5 Q13501 1 |
| Chordee 0.705094439357078 1.5083169190777408 0.1314734350297279 1.0 0.9066281284313226 7 Q9NX14,P53701,P48651,O14974 4 |
| Muscle stiffness 0.6226199778748435 1.5081585086951077 0.1315139636003173 1.0 0.9066281284313226 20 O00592,Q9NQ11,P07602 3 |
| Unusual infection by anatomical site 0.602978045340744 1.5066809596039408 0.1318924543413069 1.0 0.907214417395869 14 P01889,Q14739,P02786 3 |
| Acute coronary syndrome 0.6189624608749678 1.5055559548331547 0.1321812024945108 1.0 0.907214417395869 19 P01889,Q9NZ08,Q14191,P06280,P01130 5 |
| Abnormal cortical bone morphology 0.602741102896778 1.5054901992392076 0.1321980947206835 1.0 0.907214417395869 14 P35606,P51798,O00754,P48651 4 |
| Bifid scrotum 0.7603409225910069 1.501820934658313 0.1331433602363811 1.0 0.90850935295402 5 Q9UBM7 1 |
| Abnormal metatarsal morphology 0.6304668904536346 1.5013019218916157 0.1332774881309042 1.0 0.90850935295402 23 Q15392,O43505,O96028,Q9UBM7,Q96L58,Q8WVQ1,P10644 7 |
| Goiter 0.6471529245652053 1.5007846984626152 0.1334112576212502 1.0 0.90850935295402 10 O75874 1 |
| Limb myoclonus 0.7389778001260257 1.5003178027294584 0.1335321000667917 1.0 0.90850935295402 6 Q13510 1 |
| Abnormal astrocyte morphology 0.607948826776152 1.4985645641222898 0.133986631406382 1.0 0.90850935295402 16 P48735,O75874,Q13501 3 |
| Abnormal atrioventricular conduction 0.6244293462784358 1.4977876155743086 0.1341884394587666 1.0 0.9085217294503384 12 P06280 1 |
| Xanthelasma 0.8559869218142295 1.4963013489769896 0.1345751437462148 1.0 0.909242559627538 3 P34913 1 |
| Oculomotor apraxia 0.6286870619901522 1.4923618952510005 0.1356042986788386 1.0 0.909242559627538 23 O14773,P05067,P04062 3 |
| Abnormal epiphyseal ossification 0.6000193868171013 1.4918044004469435 0.1357504300159218 1.0 0.909242559627538 14 P10644,Q14739,Q9UBM7,Q96L58 4 |
| Abnormality of pulmonary circulation 0.6344292854447668 1.4912045901475888 0.1359077889300421 1.0 0.909242559627538 25 Q14108,Q6NUK1,P01889,Q8IZA0,P51798,P04062,Q9NZ08,P03886,O96000,P51970 10 |
| Aplasia hypoplasia involving the sinuses 0.7768279724080636 1.488829818063475 0.1365321882172532 1.0 0.909242559627538 4 P04066 1 |
| Dementia 0.7131565054860378 1.4882760194649884 0.1366781164357862 1.0 0.909242559627538 58 P06865,P07602,Q14108,O15118,Q13501,P17900,P05067,P61916,O00592,Q9NQ11,P04062,Q13510 12 |
| Abnormal retinal vascular morphology 0.6965749943763303 1.4849370603775305 0.1375604975757116 1.0 0.909242559627538 50 P06865,P07602,P16278,P17900,P04439,P07686,Q13510,P10619 8 |
| Amyotrophic lateral sclerosis 0.6079410172469544 1.482229484321367 0.1382792438587095 1.0 0.909242559627538 17 Q9UHD9,P35637,Q9UQN3,Q99720,Q13501,Q92804 6 |
| Abnormality of primary teeth 0.6087887979465973 1.4773145661339813 0.1395913352281952 1.0 0.909242559627538 13 O75844,P51798,P04080,P53634,Q8NC56,P61586 6 |
| Vitritis 0.8505038291125653 1.4759535497187275 0.1399563623772177 1.0 0.909242559627538 3 P04439 1 |
| Lack of insight 0.8503679403426199 1.475449215241829 0.140091812173877 1.0 0.909242559627538 3 Q13501 1 |
| Collectionism 0.8503679403426199 1.475449215241829 0.140091812173877 1.0 0.909242559627538 3 Q13501 1 |
| Eeg with continuous slow activity 0.8503679403426199 1.475449215241829 0.140091812173877 1.0 0.909242559627538 3 Q13501 1 |
| Severe short stature 0.6217353474212677 1.472678514332207 0.1408377427145988 1.0 0.9101363657929196 22 Q15392,P16278,P48651,P53701,Q96L58,P10619,Q8WVQ1 7 |
| Abnormal blistering of the skin 0.6141921993969311 1.4657943435404694 0.1427043225313249 1.0 0.9160489344853524 20 Q14574,P51798,P15924,Q02487,P01889 5 |
| Oromandibular dystonia 0.8465986394557958 1.461459190305908 0.1438894671914368 1.0 0.9160489344853524 3 P35637,Q99720 2 |
| Cardiovascular calcification 0.6487759140372569 1.460705479055167 0.1440962847857587 1.0 0.9160489344853524 9 P01130 1 |
| Hypothermia 0.6380208425797933 1.459128152875374 0.1445298388963756 1.0 0.9162827894348052 10 O43772 1 |
| Macrogyria 0.7283119090434139 1.4580954727405675 0.1448142291028373 1.0 0.9162827894348052 6 O43505 1 |
| Acute hepatic failure 0.5927779397482583 1.4553240240566272 0.1455795787725304 1.0 0.918566703282786 14 P01889,P39210,P38571 3 |
| Chorioretinal dysplasia 0.7480629835743444 1.45391658002625 0.1459694354671306 1.0 0.9197491613414346 5 O43505 1 |
| Abnormal circulating non proteinogenic amino acid concentration 0.6460217613363172 1.4484065353905051 0.1475033881195204 1.0 0.9281272745526058 9 P05067 1 |
| Abnormal circulating ceruloplasmin concentration 0.8421768707483086 1.4450462331140992 0.1484448998037835 1.0 0.9301864549083978 3 O00400,Q8N511 2 |
| Diabetes insipidus 0.6234021054723353 1.4407418572548945 0.1496576249530559 1.0 0.9329710435164484 11 P06280 1 |
| Hyperostosis 0.6009477521161393 1.4387781265325528 0.1502133956398659 1.0 0.9329710435164484 13 O00754,P48651,Q96L58 3 |
| Nausea 0.601962707452802 1.4359570890258582 0.151014552042592 1.0 0.9342690546213056 18 P06280 1 |
| Abnormality of adrenal morphology 0.6111048836003578 1.43459100397139 0.1514036796148272 1.0 0.9342690546213056 21 P48735,O75874,P38571,Q12768,P10644 5 |
| Abnormal cardiac ventricular function 0.6042301196499537 1.4313965504445152 0.1523165964844901 1.0 0.935451461281657 19 P10253,P01130 2 |
| Scarring 0.6339030159706267 1.430383288106629 0.152607042043301 1.0 0.935451461281657 29 Q8NCH0,Q92542,P04439,Q07954,P53634 5 |
| Ankylosis 0.7419884555987362 1.430184126217191 0.1526641801302606 1.0 0.935451461281657 5 P02545,O75844,P48651 3 |
| Tissue ischemia 0.6035648363582632 1.428038698596038 0.1532807201909918 1.0 0.9372198005756068 19 P06280,P05067 2 |
| Decreased calvarial ossification 0.7601047335378593 1.4244418950263926 0.1543185938550539 1.0 0.9385132153728384 4 O75718,O75844 2 |
| Flattened epiphysis 0.8360544217687096 1.4223200656034047 0.1549333563850718 1.0 0.9397359653636604 3 Q8WVQ1,Q14807 2 |
| Mesomelia 0.7189814036253743 1.4210876264638248 0.155291286702758 1.0 0.9406510873208398 6 Q9UBM7 1 |
| Aortic dissection 0.7584212317114477 1.4179551322306323 0.1562038645874999 1.0 0.9432527575029668 4 P01889,O15460,Q02809 3 |
| Abnormality of the radial head 0.6832352955830064 1.4174764414683456 0.1563436773937341 1.0 0.9432527575029668 7 Q9Y2D4,Q96L58,P10644,Q14807 4 |
| Tachycardia 0.6195229683650337 1.4160935665827938 0.1567481114570721 1.0 0.9440796648245264 25 Q14126,P42892,P14923,O43772,P19022 5 |
| Accessory spleen 0.7168246934041593 1.4125248055884985 0.157795492094503 1.0 0.9469814010374206 6 Q15904,Q96KP1 2 |
| Absent hypoplastic paranasal sinuses 0.8313589717287067 1.404891888566835 0.1600534289834816 1.0 0.9508879730893156 3 P04066 1 |
| Agitation 0.6398218995781181 1.404565234930054 0.1601506005244672 1.0 0.9508879730893156 33 Q9UHD9,P10644,P35637,Q9UQN3,Q13501,P05067,P42892,Q92804,O00592,P04062 10 |
| Vascular neoplasm 0.6396852889242893 1.4038732496078636 0.1603565966934099 1.0 0.9508879730893156 33 P48735,Q7LGA3,O75874,Q9UBM7,P10619 5 |
| Vertebral hypoplasia 0.6359300091503268 1.4032593074117885 0.1605395279241701 1.0 0.9508879730893156 9 P16278,Q14739 2 |
| Premature rupture of membranes 0.7136533878106864 1.399928304041062 0.1615347892535199 1.0 0.953979947875152 6 P02545,O75844,Q02809,Q9Y487,Q8NC56 5 |
| Unilateral renal agenesis 0.5968716223851547 1.394216092212861 0.1632523599163708 1.0 0.9560877360719628 19 P35606,Q00534,Q7LGA3,Q9UBM7 4 |
| Broad based gait 0.5998318931376558 1.3933236586942712 0.1635219394514451 1.0 0.9560877360719628 20 O14773 1 |
| Upper airway obstruction 0.7509989990075081 1.3893489261294567 0.164726672963466 1.0 0.9606588899525366 4 P02545,O75844 2 |
| Hamartoma 0.5925811357812272 1.3885457662623029 0.1649709187618282 1.0 0.9607377931502468 18 O75874 1 |
| Cardiac arrest 0.6308990282758203 1.386965954769287 0.1654521444614936 1.0 0.9607377931502468 31 P01889,Q14126,P14923,Q02487,P01130,O43772,P04062 7 |
| Impaired temperature sensation 0.7499412224955122 1.3852713413500042 0.1659695133962699 1.0 0.9607377931502468 4 P07686,P04792 2 |
| Sclerosis of skull base 0.8260389923146864 1.3851484482147198 0.1660070801924726 1.0 0.9607377931502468 3 P48651 1 |
| Paresthesia 0.6042518552664631 1.3844505546005 0.166220538282213 1.0 0.9607377931502468 22 P54802,P11166,P05067,P06280,P01889 5 |
| Abnormal ossification involving the femoral head and neck 0.8255757150540967 1.3834293384150609 0.1665332598810125 1.0 0.9609505330991718 3 Q14739 1 |
| Aspiration pneumonia 0.6033366099697107 1.3798184487616698 0.1676425508369954 1.0 0.9627844451477816 22 Q13510,P16278,P04062 3 |
| Cerebral white matter atrophy 0.5938961419329515 1.3791574995085425 0.1678461986698312 1.0 0.9627844451477816 19 O75503,O00754 2 |
| Hypoplastic vertebral bodies 0.7285648664212482 1.377680546124327 0.1683019402546115 1.0 0.9641812289744012 5 P16278,Q14739 2 |
| Cardiac conduction abnormality 0.6287306805446216 1.375975880811248 0.1688291006533862 1.0 0.9645837593004212 31 P06280,Q07954,P03886,O43772,P19022 5 |
| Abnormality of the nasal bone 0.7465124191901918 1.372052820535401 0.1700469951321079 1.0 0.9645837593004212 4 P10644,Q6NUK1,O14974 3 |
| Camptodactyly of toe 0.726990073226154 1.3715167077493546 0.170213938810269 1.0 0.9645837593004212 5 P14923 1 |
| Head titubation 0.7063254860959676 1.3707989023195193 0.170437653234426 1.0 0.9645837593004212 6 Q99720 1 |
| Personality changes 0.582072168153025 1.3679260841701466 0.1713352140596473 1.0 0.9657268951277642 16 Q13501,P03886,P04062 3 |
| Upper motor neuron dysfunction 0.3873365302538871 1.3653678494805563 0.1721374635488128 1.0 0.9690464645628958 344 P35606,O14773,P07602,O00584,P61916,O00592,O75503,P11117,P50897,O00400,Q99720,P17900,P04066,P41440,Q5KU26,O00754,Q13510,P51970,O15118,O43505,Q9UQN3,P16278,Q96KP1,P07686,O00139,Q96L58,Q12768,Q9NQ11,O60508,P04062,Q15392,Q13501,P01889,P03886 34 |
| Frontotemporal cerebral atrophy 0.7412622298015812 1.3518107725200372 0.1764358571084354 1.0 0.9716746187342116 4 Q13501 1 |
| Oval face 0.6667923452458513 1.3488630520332312 0.1773809578167258 1.0 0.9716746187342116 7 Q96KP1,Q96L58 2 |
| Abnormal speech prosody 0.6332283908422991 1.3482868130350762 0.1775661518282194 1.0 0.9716746187342116 8 P04062 1 |
| Male sexual dysfunction 0.6032957795062786 1.3463089194666416 0.1782029104875964 1.0 0.9716746187342116 11 O00592 1 |
| Absent eyebrow 0.6975712616817863 1.3359634112730143 0.181561232796533 1.0 0.9716746187342116 6 P15924,P14923 2 |
| Progressive pes cavus 0.6971883601557461 1.3344389601591755 0.1820600388345823 1.0 0.9716746187342116 6 Q12768,O00400,Q9NQ11 3 |
| Nephrotic syndrome 0.590211859217112 1.328850875003352 0.1838971737383667 1.0 0.9716746187342116 21 Q8NCH0,P06280,Q14108 3 |
| Fatigable weakness of swallowing muscles 0.5673756067614845 1.3266528107409423 0.18462355766101 1.0 0.9716746187342116 14 Q9UHD9,P35637,Q9UQN3,Q13501,Q92804 5 |
| Mild short stature 0.7346884865468988 1.326465390568791 0.1846855916305574 1.0 0.9716746187342116 4 Q14739,Q8WVQ1 2 |
| Barrel shaped chest 0.7345152855908951 1.3257976335245567 0.184906737089213 1.0 0.9716746187342116 4 Q14739,P04066 2 |
| Squamous cell carcinoma 0.5885113353037432 1.3251346041896392 0.1851265106352517 1.0 0.9716746187342116 12 P53634 1 |
| Calcinosis 0.7151214463223384 1.3250418168683142 0.1851572821455498 1.0 0.9716746187342116 5 O75844,Q14739 2 |
| Widened cerebral subarachnoid space 0.7337203172358477 1.3227327536666569 0.1859242671293772 1.0 0.9716746187342116 4 P03886 1 |
| Tendon xanthomatosis 0.9914994899693984 1.3194390296278724 0.1870223808067068 1.0 0.9716746187342116 2 P34913 1 |
| Restrictive behavior 0.6927952838699112 1.3169446995903034 0.1878571617881115 1.0 0.9716746187342116 6 Q13501 1 |
| Visual loss 0.6524711957349294 1.3161281867734584 0.1881310218284495 1.0 0.9716746187342116 45 O75503,P50897,O14773,P07602,P03886,P04439,P53701,P01889,P98164 9 |
| Absent toenail 0.6589410188978264 1.3160339506603935 0.1881626477609215 1.0 0.9716746187342116 7 P14923,P15924 2 |
| Aplasia hypoplasia involving the femoral head and neck 0.5861766556988838 1.3138528737942423 0.1888957203391499 1.0 0.9716746187342116 12 P15260,Q9Y2D4,Q96L58 3 |
| Macroglossia 0.6246119247049406 1.3137077140573468 0.1889445840048447 1.0 0.9716746187342116 34 P16278,P04066,P07686,P10253,O00754 5 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9894593675620544 1.3120469652683069 0.1895042885986013 1.0 0.9716746187342116 2 O14773 1 |
| Abnormal saccadic eye movements 0.5899586768600675 1.311977030672076 0.1895278846968948 1.0 0.9716746187342116 22 Q9NQ11,O14773,Q8IV08 3 |
| Supernumerary spleens 0.6576133705419038 1.3104790438465392 0.1900338290054568 1.0 0.9716746187342116 7 Q15904,Q96KP1 2 |
| Iris coloboma 0.6125615724148431 1.30796553236091 0.1908850002946258 1.0 0.9716746187342116 30 O43505,P53701,Q9UBM7,Q96ST3,Q12768,P98164,Q96EK5 7 |
| Cyanosis 0.5765808325815454 1.307380982671091 0.1910833527990312 1.0 0.9716746187342116 18 O75844,O43772,P04066,P11166 4 |
| Sparse scalp hair 0.6194363205882488 1.301011865690655 0.1932543932302557 1.0 0.9716746187342116 33 Q6NUK1,Q14574,Q14191,P14923,Q96EK5,Q02487 6 |
| Arthralgia 0.6080565974724157 1.2993508854518727 0.1938235387423126 1.0 0.9716746187342116 29 Q13510,P01130,P06280 3 |
| Abnormal larynx morphology 0.5964370478054363 1.2990889703607562 0.1939133978353309 1.0 0.9716746187342116 25 Q13510,Q14191,P07602 3 |
| Aortic valve calcification 0.8025724126046944 1.2981436701655638 0.1942379703714776 1.0 0.9716746187342116 3 P04062 1 |
| Ulnar deviation of finger 0.6216804294494562 1.29750108521961 0.1944588319617022 1.0 0.9716746187342116 8 Q96L58,Q9UBM7 2 |
| Xerostomia 0.5681878540829962 1.2974037353777583 0.1944923079487217 1.0 0.9716746187342116 16 Q9UHD9,P35637,Q9UQN3,Q13501,Q92804,Q14739 6 |
| Abnormality of alkaline phosphatase level 0.5777015911302261 1.2969783210112342 0.1946386460994684 1.0 0.9716746187342116 19 Q13501,Q14739,Q8N511,P38571 4 |
| Motor neuron atrophy 0.5929158755545388 1.2963002774827577 0.1948720530295791 1.0 0.9716746187342116 24 Q9UHD9,P35637,Q9UQN3,Q99720,Q13501,Q92804,Q13510 7 |
| Mixed hearing impairment 0.6868440918038162 1.2932353196253903 0.1959296833996064 1.0 0.9716746187342116 6 O00754 1 |
| Abnormal morphology of the musculature of the neck 0.5604016698711488 1.2911635458546231 0.1966469728772135 1.0 0.9716746187342116 14 Q99720,Q9NQ11,Q96L58 3 |
| Abnormality of visual evoked potentials 0.5795492630127288 1.29043611348508 0.1968992801279543 1.0 0.9716746187342116 20 O75503,P51798,P07602 3 |
| Blue sclerae 0.5886020602451242 1.2896452278152382 0.1971738647848138 1.0 0.9716746187342116 23 O75718,Q8NCH0,Q9Y3B2,Q02809,Q96L58,Q96EK5,Q9Y2D4,Q8WVQ1 8 |
| Lower limb hypertonia 0.6006029060492217 1.28733948533047 0.1979759866435599 1.0 0.9716746187342116 10 O00400 1 |
| Abnormal brain positron emission tomography 0.7054247137457685 1.2870560815224723 0.1980747416743034 1.0 0.9716746187342116 5 Q13501 1 |
| Hyperextensible skin 0.5590773745323966 1.2844177139696549 0.1989958381716952 1.0 0.9716746187342116 14 Q8NCH0,P04062,Q96L58 3 |
| Neck muscle weakness 0.5653522110508665 1.2829705230437414 0.199502403387374 1.0 0.9716746187342116 16 P07602 1 |
| Atlantoaxial abnormality 0.7230114522433594 1.2814551743442115 0.2000338350794956 1.0 0.9716746187342116 4 Q8NCH0 1 |
| Atrophy degeneration affecting the central nervous system 0.3548589252173304 1.2800272671146848 0.200535546372135 1.0 0.9716746187342116 279 O14773,P07602,P05067,Q9Y3B2,O00592,O75503,P50897,O00400,Q99720,P17900,P04066,Q5KU26,O00754,Q9BPU6,Q13510,P51970,O15118,P16278,Q9NQ11,P04062,Q7LGA3,Q13501,P03886 23 |
| Abnormal biliary tract morphology 0.5895397207274805 1.2791303317511842 0.2008511640237271 1.0 0.9716746187342116 24 P04062,Q14739,P07602,Q14108 4 |
| Airway obstruction 0.5681302951802261 1.276496644052582 0.201780012373439 1.0 0.9716746187342116 13 P06280,O75844,P09601 3 |
| Asymmetric septal hypertrophy 0.9785787147228846 1.2726801508234438 0.2031315639292636 1.0 0.9716746187342116 2 P15586 1 |
| Hemangiomatosis 0.9778986739204356 1.2702231936880055 0.2040051381116963 1.0 0.9716746187342116 2 O75874 1 |
| Visceral angiomatosis 0.9778986739204356 1.2702231936880055 0.2040051381116963 1.0 0.9716746187342116 2 O75874 1 |
| Lymphangioma 0.9778986739204356 1.2702231936880055 0.2040051381116963 1.0 0.9716746187342116 2 O75874 1 |
| Retinal degeneration 0.653700532168107 1.2648849483706062 0.2059125736941836 1.0 0.9716746187342116 50 O75503,P50897,O14773,Q7LGA3,Q14191,P04439,O00754,Q13510,P04062 9 |
| Bulbar palsy 0.5859165954372346 1.26431381092382 0.2061174144247473 1.0 0.9716746187342116 11 P53007,P35637,Q13501,P06753 4 |
| Abnormal vitreous humor morphology 0.6792404373553209 1.2629297538775186 0.2066144258649065 1.0 0.9716746187342116 6 P04439 1 |
| Abnormal tricuspid valve physiology 0.5668132496378383 1.2576734188951926 0.2085098891624155 1.0 0.9716746187342116 18 Q15904,P53701,P19022,Q6NUK1 4 |
| Frontal balding 0.7914965986394646 1.2571621240602222 0.2086949353262048 1.0 0.9716746187342116 3 O60828,P11166 2 |
| Pruritus 0.5789882038078559 1.2561782703646986 0.2090513432331782 1.0 0.9716746187342116 22 Q13277,Q07954,P15924,P38571 4 |
| Hemoptysis 0.6969518836848934 1.2538648736800106 0.2098911244084256 1.0 0.9716746187342116 5 P01889 1 |
| Onycholysis 0.6968111558847099 1.2533136498862738 0.2100915827639164 1.0 0.9716746187342116 5 P10321 1 |
| Fatigable weakness of bulbar muscles 0.5590104905241042 1.2506596471700586 0.2110586787654167 1.0 0.9716746187342116 16 Q9UHD9,P35637,Q9UQN3,Q13501,Q92804,P06753 6 |
| Episodic pain 0.5829581045853849 1.2503288217732558 0.2111794540260922 1.0 0.9716746187342116 11 P07686 1 |
| Weak cry 0.6011540782126097 1.2468769290405686 0.2124426273342936 1.0 0.9716746187342116 9 Q13510,P06753 2 |
| Hemiparesis 0.5614668083063229 1.2467205523178293 0.2124999802156248 1.0 0.9716746187342116 17 P01889,P11166,Q9BVA1,Q9NZ08,P03886 5 |
| Dry hair 0.7883304722556059 1.2454612592455514 0.2129622474715653 1.0 0.972349236445549 3 O60828 1 |
| Osteolysis involving bones of the upper limbs 0.6745205718328967 1.2441134633583644 0.2134578066421357 1.0 0.9736333489711072 6 P53634 1 |
| Abnormality of the distal phalanges of the toes 0.6938812538942843 1.2418380951266892 0.2142963040999164 1.0 0.9764775421523774 5 Q8WVQ1,Q7LGA3 2 |
| Hepatosplenomegaly 0.6153263030787571 1.2394139959511594 0.2151922208961159 1.0 0.9787297597909554 36 P11166,P15260,P16278,P07686,O00754,P38571,Q13510,P10619,Q14739,P04062 10 |
| Sparse eyebrow 0.6072551502874024 1.2388941300077112 0.2153847078221593 1.0 0.9787297597909554 33 Q14574,Q07954,P15924,P14923,Q02487 5 |
| Muscle weakness 0.3561145014520517 1.236585593387474 0.2162409710927102 1.0 0.9787297597909554 276 P07602,P04792,P10253,P11310,Q92804,Q9HC07,Q9BQP7,O43772,O00400,P06865,Q9BQT8,Q99720,P17900,P41440,Q5KU26,Q9GZY8,P48651,Q9Y6M9,Q13510,Q14739,P39210,P51970,P13473,O96000,Q8NCH0,O75648,Q6NUK1,O43505,Q9UQN3,O14979,P07686,P06753,Q13614,Q12768,Q9NQ11,P50402,P10644,P35637,Q08426,Q13501,P51798,P01889,P03886 43 |
| Abnormality of the wrist 0.5810158865396682 1.2357283158108046 0.2165595685494747 1.0 0.9787297597909554 24 O75844,Q9H6K4,O95831,P16278,Q96L58,Q9Y2D4,Q14807,Q8WVQ1,Q13510 9 |
| Abnormal ilium morphology 0.5622580187351656 1.234457769974962 0.2170323736006254 1.0 0.9787297597909554 18 P16278,O00754,P01889,Q96L58 4 |
| Juvenile onset 0.6266462085247837 1.2325877277161492 0.2177296178962906 1.0 0.9787297597909554 41 P54802,O14773,O15118,P16278,P41440,P04080,P06280,P51798,P38571,P06753,Q13510,Q9NQ11,P39210 13 |
| Stroke like episode 0.6716045619216606 1.2324876315117577 0.2177669840700107 1.0 0.9787297597909554 6 P03886,P51970 2 |
| Dermal atrophy 0.591840558638329 1.2312488793343404 0.2182297950982774 1.0 0.9787297597909554 28 Q15392,Q8NCH0,P53701,Q07954,P53634,Q96L58,P10644 7 |
| Coronal craniosynostosis 0.6906869298501821 1.2293288058384146 0.2189485512504165 1.0 0.9787297597909554 5 Q9NX62 1 |
| Aplasia hypoplasia of the nasal bone 0.7833333333333395 1.2270085273932787 0.2198193858846711 1.0 0.9787297597909554 3 P10644,Q6NUK1 2 |
| Eyelid myoclonus 0.6055898064130338 1.2265826029715483 0.2199795112254705 1.0 0.9787297597909554 8 Q96JM3,P67870,Q13510 3 |
| Pili torti 0.7829931972789256 1.2257532274282965 0.2202915532409535 1.0 0.9787297597909554 3 Q14191,Q9Y276 2 |
| Pseudoarthrosis 0.7829931972789179 1.2257532274282683 0.2202915532409641 1.0 0.9787297597909554 3 O75844,Q9NWH9 2 |
| Mottled pigmentation 0.7829931972789151 1.2257532274282577 0.2202915532409681 1.0 0.9787297597909554 3 O75844,Q8TC12 2 |
| Delayed social development 0.7824075536646082 1.2235920819765602 0.2211061480728782 1.0 0.9787297597909554 3 O60508 1 |
| Anterior uveitis 0.7819727891156634 1.2219878933156243 0.221712205305002 1.0 0.9787297597909554 3 Q9UNE7,P01889 2 |
| Abnormality of the pubic bone 0.6687675656181701 1.2211766949697396 0.2220191260651209 1.0 0.9787297597909554 6 Q8IZA0 1 |
| Lacticaciduria 0.6362472231186435 1.220980229240567 0.2220935055641133 1.0 0.9787297597909554 7 P03886,Q9BQT8 2 |
| Upper limb spasticity 0.6039069309915653 1.2191576448812247 0.2227843642940259 1.0 0.9787297597909554 8 Q12768,Q99720 2 |
| Abnormal corneal epithelium morphology 0.5527218601095055 1.218580686536966 0.2230033831229134 1.0 0.9787297597909554 16 Q9NZ08,Q96EK5,P01889,Q14739,P39210 5 |
| Papule 0.5590220094942309 1.217954245578302 0.2232413604430956 1.0 0.9787297597909554 18 P01889,Q9NZ08,Q07954 3 |
| Abnormal femoral head morphology 0.5620019559776523 1.2170166170270755 0.2235978935660518 1.0 0.9787297597909554 19 Q7LGA3,P15260,P16278,Q96L58,Q8WVQ1 5 |
| Natal tooth 0.6673868398950891 1.2156718982185848 0.2241099332925347 1.0 0.9787297597909554 6 P15924,P14923 2 |
| Gait disturbance 0.3558628824768896 1.2145959944805975 0.2245202173284781 1.0 0.9787297597909554 289 O14773,P07602,P04792,P05067,Q96JM3,O00592,Q9NZ08,Q8WVQ1,O75503,O00400,Q14108,Q9BQT8,Q99720,P41440,Q9GZY8,O00754,Q9BPU6,Q13510,P39210,Q8IV08,P13473,O75648,O15118,Q9UQN3,P16278,P06753,Q12768,Q9NQ11,P50402,P04062,O75787,O75844,P35637,P11166,Q7LGA3,Q13501,Q9Y296,Q9BVA1,P01889,P03886 40 |
| Abnormality of the gingiva 0.6205051102998548 1.213757128045406 0.2248404820148632 1.0 0.9787297597909554 40 Q15392,Q14108,P16278,O00754,P15924,P53634,Q9UBM7,P04062 8 |
| Impaired tactile sensation 0.5935881806288301 1.212735020336038 0.2252311459953708 1.0 0.9787297597909554 9 Q9NQ11 1 |
| Generalized osteosclerosis 0.7793704218622469 1.2123890381639293 0.2253634950201761 1.0 0.9787297597909554 3 Q15392 1 |
| Toe walking 0.5670448373160503 1.210950961276727 0.2259141996473526 1.0 0.9787297597909554 21 P35637,P07602,Q13057,P53007,Q99720,P06753,P50402 7 |
| Abnormal morphology of the abdominal musculature 0.5925682338380517 1.208130360612121 0.2269971231810204 1.0 0.9787297597909554 9 Q8NCH0,Q6NUK1 2 |
| Erythema 0.5663610009614415 1.2074631400717122 0.2272538320910972 1.0 0.9787297597909554 21 P01889,P03886,Q07954,P15924 4 |
| Thin eyebrow 0.5438984751272211 1.2069688438257022 0.2274441428771934 1.0 0.9787297597909554 14 P15924,P14923 2 |
| Orchitis 0.7777631472168187 1.2064635314271728 0.2276388124304518 1.0 0.9787297597909554 3 P01889 1 |
| Pleuritis 0.7777631472168187 1.2064635314271728 0.2276388124304518 1.0 0.9787297597909554 3 P01889 1 |
| Pulmonary embolism 0.7777631472168187 1.2064635314271728 0.2276388124304518 1.0 0.9787297597909554 3 P01889 1 |
| Abnormal circulating fatty acid concentration 0.5566624555426765 1.2059153053537808 0.2278501485693227 1.0 0.9787297597909554 18 P11310,O43772,Q08426 3 |
| Atelectasis 0.5734101113920196 1.2051541951063025 0.2281437813262727 1.0 0.9787297597909554 11 Q13510 1 |
| Corneal ulceration 0.6845092376994367 1.2051441482135992 0.2281476591720497 1.0 0.9787297597909554 5 Q96EK5,O75844 2 |
| Neck flexor weakness 0.7025051381799354 1.2025145909673276 0.2291642164348724 1.0 0.9795593443333578 4 Q99720 1 |
| Tongue fasciculations 0.5727390342305785 1.2019771292717665 0.2293723892531884 1.0 0.9795593443333578 11 Q13510 1 |
| Recurrent paroxysmal headache 0.5818986209567937 1.2009831302473604 0.2297577452752777 1.0 0.9795593443333578 10 P03886,P10644 2 |
| Short nail 0.6833897108152996 1.200762741965396 0.2298432482914891 1.0 0.9795593443333578 5 O75844,Q9Y487,Q96L58 3 |
| Pathologic fracture 0.5724701500232737 1.2007040941813023 0.2298660054116219 1.0 0.9795593443333578 11 Q14108,P04062 2 |
| Epiphyseal stippling 0.5807377968130564 1.1956173141764863 0.2318459316661376 1.0 0.9834510434727016 10 Q14739,Q9UBM7 2 |
| Ovarian neoplasm 0.5534059193609557 1.18929317312219 0.2343243208342516 1.0 0.9908806406541346 18 P48735,O75874 2 |
| Loss of eyelashes 0.7721211468361495 1.1856822712064428 0.2357477984521434 1.0 0.9908806406541346 3 O75844 1 |
| Fatigable weakness of respiratory muscles 0.5425498402864144 1.1832697187957697 0.2367022697871839 1.0 0.9908806406541346 15 Q9UHD9,P35637,Q9UQN3,Q13501,Q92804 5 |
| Left ventricular hypertrophy 0.5736395155110113 1.1829416111386897 0.2368322888295211 1.0 0.9908806406541346 25 Q07021,Q6NUK1,P10253,P06280,P03886 5 |
| Abnormal hdl cholesterol concentration 0.6969586832497554 1.1812015973510095 0.2375226468786779 1.0 0.9908806406541346 4 P38571 1 |
| Breech presentation 0.626328487812567 1.1793963392234568 0.2382403921573059 1.0 0.9908806406541346 7 O75718,P06753,Q9UBM7 3 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.6582674015266591 1.1793187709413222 0.238271266488542 1.0 0.9908806406541346 6 Q8WVQ1,Q7LGA3 2 |
| Vertebral compression fracture 0.5415795410008273 1.1783108448607382 0.2386727058939111 1.0 0.9908806406541346 15 Q14108 1 |
| Exaggerated cupid s bow 0.6572887984771429 1.1754186012136998 0.239827285202645 1.0 0.9908806406541346 6 P11233 1 |
| Delayed epiphyseal ossification 0.695415812649564 1.175276781353096 0.2398840005706657 1.0 0.9908806406541346 4 Q96L58 1 |
| Submucous cleft of soft and hard palate 0.5659655454461635 1.174293230392143 0.2402775938971908 1.0 0.9908806406541346 23 Q15392,O75844,Q7LGA3,O43505,P48651 5 |
| Pericarditis 0.6761965298674213 1.172624007045595 0.2409466178487305 1.0 0.9908806406541346 5 P01889,Q9NZ08,O15460 3 |
| Abnormal foot bone ossification 0.7671845351747829 1.167525391354327 0.2429982603984033 1.0 0.9908806406541346 3 Q14739 1 |
| Pulmonary fibrosis 0.5570624863772534 1.1600069560339392 0.2460459740151408 1.0 0.9908806406541346 21 P04062,Q8IZA0,P15924,Q08426 4 |
| Fibrous tissue neoplasm 0.5476678759613556 1.1599890453755972 0.2460532662272205 1.0 0.9908806406541346 18 Q15392,Q07954 2 |
| Emg neuropathic changes 0.5656375751091046 1.157274806096596 0.2471601033455961 1.0 0.9908806406541346 24 Q13510,O14773,P07602,P39210 4 |
| Abnormal cry 0.5534776205219069 1.155347173675784 0.2479482852849888 1.0 0.9908806406541346 12 P53007,Q13510,Q9NVS9,P06753 4 |
| Lymphedema 0.543013459489213 1.1515285828487567 0.2495148432595697 1.0 0.9908806406541346 13 P06280 1 |
| Migraine 0.5614927668280272 1.1514573956661205 0.2495441129749971 1.0 0.9908806406541346 23 P01889,P03886,P05067,P11166 4 |
| Impaired mastication 0.6510824331537148 1.1506897140598316 0.249859909646863 1.0 0.9908806406541346 6 P01889,P06753 2 |
| Premature loss of teeth 0.5427766958440978 1.150348831506347 0.250000225973586 1.0 0.9908806406541346 13 P51798,P04080,P53634 3 |
| Blurred vision 0.649152165332465 1.143001356081318 0.2530380280260793 1.0 0.9908806406541346 6 P04439 1 |
| Palpitations 0.5441501137714725 1.142015965367034 0.2534473834830542 1.0 0.9908806406541346 18 Q02487,P19022,P14923 3 |
| Coarse facial features 0.6464139930279386 1.1418068965207977 0.253534295073083 1.0 0.9908806406541346 58 P54802,P15586,P16278,P04066,P07686,O00754,P06280,P10619 8 |
| Abnormality of the vasculature of the eye 0.6674464435782281 1.1414979490397503 0.2536627649967078 1.0 0.9908806406541346 70 P06865,P07602,P01889,P16278,P17900,P04066,P04439,P07686,P06280,Q13510,P10619,P02786 12 |
| Synostosis involving digits 0.6861205411655895 1.139623048850239 0.2544433785913875 1.0 0.9908806406541346 4 P48651 1 |
| Peripheral demyelination 0.5402944071417342 1.138623785200168 0.2548601034689182 1.0 0.9908806406541346 17 P07602 1 |
| Polyneuropathy 0.5459647381466225 1.1351374579554747 0.2563177291094574 1.0 0.9908806406541346 19 P07602,P04066 2 |
| Abdominal aortic aneurysm 0.7581632653061419 1.134416247113991 0.2566199870996475 1.0 0.9908806406541346 3 P01889,O15460 2 |
| Epispadias 0.6659312509362376 1.1325166047926754 0.257417307428484 1.0 0.9908806406541346 5 P53701,P48651 2 |
| Protuberant abdomen 0.6656591467157004 1.1314544262102038 0.2578638748555355 1.0 0.9908806406541346 5 P04062 1 |
| Sudden death 0.5634763884886849 1.1310447039014102 0.2580362762582682 1.0 0.9908806406541346 25 P01889,P0DP25,Q14126,P15924,P14923,Q02487,P01130 7 |
| Sound sensitivity 0.583580072289728 1.1294164315392092 0.2587222044470127 1.0 0.9908806406541346 8 P17900 1 |
| Gingival recession 0.9384563073784457 1.128624826832774 0.2590561329887344 1.0 0.9908806406541346 2 P53634 1 |
| Hypovolemic shock 0.9384563073784437 1.128624826832766 0.2590561329887377 1.0 0.9908806406541346 2 P14923 1 |
| 3 4 finger syndactyly 0.9384563073784437 1.128624826832766 0.2590561329887377 1.0 0.9908806406541346 2 P14923 1 |
| 2 3 finger syndactyly 0.9384563073784437 1.128624826832766 0.2590561329887377 1.0 0.9908806406541346 2 P14923 1 |
| Diaphyseal thickening 0.9364161849710984 1.1213591123248694 0.2621350330409382 1.0 0.993673787815844 2 P48651 1 |
| Recurrent pancreatitis 0.6810564862218521 1.1202328302652418 0.2626145571298357 1.0 0.993673787815844 4 P03886 1 |
| Lipoatrophy 0.5488493661298721 1.118056297722426 0.2635429497565278 1.0 0.993673787815844 21 Q14126,Q14191,P04066,P15924 4 |
| Spastic diplegia 0.5546631711167775 1.1165738486553105 0.2641765783435681 1.0 0.993673787815844 23 P07602 1 |
| Arthritis 0.5989931996475157 1.1162184292981014 0.2643286477228432 1.0 0.993673787815844 39 O75844,Q14108,P28070,P01889,P51798,P06280,P10321,Q13510,Q9NZ08,Q14739,Q8WVQ1,P04062 12 |
| Abnormal sclera morphology 0.5719863097415965 1.1152994447339724 0.2647221232916541 1.0 0.993673787815844 29 O75718,Q8NCH0,Q9Y3B2,Q02809,Q96L58,Q96EK5,Q9Y2D4,Q6DKJ4,Q8WVQ1,P10644 10 |
| Abnormality of the autonomic nervous system 0.6225107762489364 1.1149685319301836 0.2648639068489706 1.0 0.993673787815844 49 P07602,P41440,P07686,P06280,P42892,Q9UBM7,O00592,P04062 8 |
| Female sexual dysfunction 0.6108543083372968 1.1145357986295754 0.2650493955665565 1.0 0.993673787815844 7 O00592 1 |
| Abdominal distention 0.5497934408360403 1.1072084874618633 0.2682037988191905 1.0 0.9954785016819016 22 P07602,P04062,P38571 3 |
| Biliary tract abnormality 0.5645993067220941 1.1068536343196012 0.2683572149109019 1.0 0.9954785016819016 27 P07602,Q14108,P09601,Q14739,P04062 5 |
| Abnormal neuron morphology 0.5666063685161687 1.102376537590122 0.2702980073667722 1.0 1.0 28 Q9UHD9,P35637,Q9UQN3,Q99720,Q13501,Q92804,Q13510 7 |
| Abnormal anterior chamber morphology 0.7486394557823304 1.0995765029421638 0.2715166843848642 1.0 1.0 3 Q8NCH0,Q9NP72 2 |
| Hypophosphatemia 0.6380192198426553 1.0986928061803678 0.2719020814473043 1.0 1.0 6 Q08426 1 |
| Anisocoria 0.6742624309808292 1.0942623482457443 0.2738399336041013 1.0 1.0 4 Q96ST3 1 |
| Spastic hyperactive bladder 0.6557539677366112 1.0928300202486547 0.2744684382406039 1.0 1.0 5 P04062 1 |
| Brisk reflexes 0.546845219877243 1.09214565623781 0.2747690843234469 1.0 1.0 22 Q99720,Q9NQ11,O60508,P35637 4 |
| Fetal ultrasound soft marker 0.5243700833384967 1.0902959505727543 0.2755827984098551 1.0 1.0 15 Q13501,Q9BPU6,Q9UQN3 3 |
| Flaring of rib cage 0.9272356341380515 1.0887501141628286 0.2762640957648252 1.0 1.0 2 P16278 1 |
| Atlantoaxial dislocation 0.927235634138049 1.0887501141628195 0.2762640957648292 1.0 1.0 2 Q8NCH0 1 |
| Acne 0.5296910710677651 1.085128506238224 0.2778647434006989 1.0 1.0 13 Q92542,P01889 2 |
| Flared metaphysis 0.5567376584771714 1.0846183755320415 0.2780907129917662 1.0 1.0 10 Q9Y2D4,P48651,Q14739,Q96L58 4 |
| Mitral valve calcification 0.6711540252333954 1.0823989357544874 0.2790753009825573 1.0 1.0 4 P04062 1 |
| Cardiac valve calcification 0.6711540252333954 1.0823989357544874 0.2790753009825573 1.0 1.0 4 P04062 1 |
| Absent epiphyses 0.6024060115537329 1.0791573687553753 0.2805175805117499 1.0 1.0 7 Q8WVQ1,Q7LGA3 2 |
| Mask like facies 0.5267615733940172 1.0705272777188122 0.2843820374833119 1.0 1.0 13 Q9NQ11 1 |
| Aplasia hypoplasia of the femur 0.5268999764129794 1.0701444338935655 0.2845543011700275 1.0 1.0 17 P15260,Q9Y2D4,Q96L58 3 |
| Low molecular weight proteinuria 0.9217953077184672 1.069497553510062 0.2848455306563977 1.0 1.0 2 P98164 1 |
| Temporal pattern 0.630544368523551 1.06898688378546 0.2850755796352036 1.0 1.0 6 P04062 1 |
| Flared iliac wing 0.649295995686951 1.0676976296663672 0.2856569280139114 1.0 1.0 5 P16278 1 |
| Hyperkeratosis 0.6237951370322943 1.0657955853889742 0.2865160569646865 1.0 1.0 54 Q14574,Q14191,P04066,Q14126,P06280,Q07954,P14923,P53634,Q02487,P04062 10 |
| Aplasia hypoplasia involving the pelvis 0.5259465519549622 1.0652700166166966 0.2867537570244611 1.0 1.0 17 P15260,Q9Y2D4,Q8WVQ1,Q96L58 4 |
| Elevated lactate pyruvate ratio 0.6664080898715502 1.0643104822944278 0.2871880709488117 1.0 1.0 4 Q96RP9,O96000 2 |
| Abnormal response to endocrine stimulation test 0.7385228545027016 1.062716617503044 0.2879104826199972 1.0 1.0 3 Q13423 1 |
| Cerebral calcification 0.5726852776437139 1.0620486145434385 0.2882136159805168 1.0 1.0 33 O00584,P05067,P53634 3 |
| Omphalocele 0.5429373408208101 1.0607834581847837 0.2887883214323554 1.0 1.0 11 P98164 1 |
| Lack of peer relationships 0.7377433817700753 1.0598836006178238 0.2891975572440586 1.0 1.0 3 P11166 1 |
| Abnormal pharynx morphology 0.56626753459911 1.057333754395949 0.2903592933928469 1.0 1.0 31 P54802,P15586,P16278,Q13510,P01889 5 |
| Stuttering 0.6644238197713181 1.0567571129555986 0.2906224519626144 1.0 1.0 4 P03886 1 |
| Abnormality of the temporomandibular joint 0.7368064466546926 1.0564796808427357 0.2907491192284499 1.0 1.0 3 O75844 1 |
| Saccadic oscillation 0.9180550833050016 1.0562943147599548 0.2908337725713448 1.0 1.0 2 P04062 1 |
| Opsoclonus 0.9180550833050016 1.0562943147599548 0.2908337725713448 1.0 1.0 2 P04062 1 |
| Hip osteoarthritis 0.918055083305001 1.0562943147599524 0.2908337725713459 1.0 1.0 2 P01889 1 |
| Stomatocytosis 0.9173750425025504 1.0538967082416342 0.2919302101516872 1.0 1.0 2 P11166 1 |
| High anterior hairline 0.5292607610644088 1.0497746754083126 0.2938217212058083 1.0 1.0 19 Q96ST3,P98164,Q7LGA3 3 |
| Malrotation of small bowel 0.662291925930707 1.048648298859843 0.2943400176919615 1.0 1.0 4 Q8NCH0 1 |
| Stroke 0.5587599997171518 1.047673653050847 0.2947889903845817 1.0 1.0 29 P03886,P06280,P05067,P51970 4 |
| Heterogeneous 0.595448486602178 1.0471218004499911 0.2950434058529037 1.0 1.0 43 O75844,Q13614,Q9NWH9,P04792,P11717,Q9BQE5,Q9Y619,P05067,Q14126,P51798,P06753,P15924,P53634,P61916,P01889,P03886,P00367 17 |
| Oral pharyngeal dysphagia 0.5486220416867023 1.0470984485009116 0.2950541748276785 1.0 1.0 10 Q96JM3,P67870,Q13510 3 |
| Global brain atrophy 0.5380115483500977 1.0470158717639697 0.2950922579920654 1.0 1.0 22 P07602 1 |
| Abnormal exteroceptive sensation 0.6115749969848857 1.046853034363444 0.2951673658309863 1.0 1.0 50 P54802,Q8NCH0,P07602,P11166,P04792,P05067,P07686,Q96JM3,P06280,P01889,Q9NQ11,P39210 12 |
| Muscle fibrillation 0.5155143329559722 1.0449943663807082 0.2960255732687513 1.0 1.0 15 Q13510,Q9BQT8 2 |
| Proximal symphalangism 0.7335846330845346 1.044786632664851 0.2961215943358972 1.0 1.0 3 P48651 1 |
| Symphalangism affecting the phalanges of the hand 0.7335846330845346 1.044786632664851 0.2961215943358972 1.0 1.0 3 P48651 1 |
| Abnormality of the curvature of the vertebral column 0.3412773143838571 1.0408387164595545 0.2979504079600146 1.0 1.0 279 Q32P28,Q96JM3,Q9HC07,O00592,Q96ST3,Q9Y2D4,Q9BQP7,Q8WVQ1,Q14108,Q9BQT8,P67870,Q99720,P04066,O60828,Q5KU26,O75874,O00754,P48651,Q9BPU6,Q13510,Q14739,O75648,Q8NCH0,P48735,Q6NUK1,O96028,P16278,Q9UBM7,Q96L58,P06753,Q12768,Q13614,P50402,P04062,P10644,O75787,O75844,O75718,P35637,Q7LGA3,Q9Y296,Q14807,P01889 43 |
| Prominent superficial blood vessels 0.5294991350221521 1.03887047318218 0.2988649802906673 1.0 1.0 12 O75844,Q6NUK1,P48651,Q9Y487,Q8NC56 5 |
| Abnormality of the fetal cardiovascular system 0.7310796632794921 1.035708400479498 0.3003382021187684 1.0 1.0 3 Q12768 1 |
| Limb ataxia 0.5476525627650735 1.0351473803255582 0.3006000883087734 1.0 1.0 26 O14773,Q14108,Q13501,P41440,O00754,P04062,Q12768,Q8IV08 8 |
| Anteriorly placed anus 0.5370571779499933 1.0329383422094514 0.3016327540128327 1.0 1.0 11 P48651,Q6NUK1 2 |
| Abnormal aortic valve physiology 0.564153255052506 1.032373459604223 0.3018972001193871 1.0 1.0 32 P01130,P01889,P16278,O00754,Q12768,P04062 6 |
| Mental deterioration 0.6781959001520751 1.030301896082527 0.3028683092787523 1.0 1.0 96 O75503,P54802,P50897,P06865,P07602,Q14108,O15118,P16278,P17900,Q9BQE5,P05067,Q13501,P07686,P61916,O00592,Q9NQ11,P04062,Q13510 18 |
| Abnormality of the vertebral endplates 0.5903166217962799 1.0286089271942194 0.303663481274032 1.0 1.0 7 Q9Y2D4,P51798,Q14807,Q96L58 4 |
| Limited elbow extension 0.5271070697741156 1.0272587582669266 0.3042986366490785 1.0 1.0 12 Q9H6K4,P16435,Q6KC79,Q96J02,Q96L58,Q8WVM7,Q9Y2D4 7 |
| Impaired visuospatial constructive cognition 0.5518924708557016 1.024435523200686 0.3056296105102267 1.0 1.0 9 P03886,Q6PI48,P11166 3 |
| Neoplasm of the breast 0.5294768019911916 1.0190894542411262 0.3081605002709331 1.0 1.0 21 O75874,P48735 2 |
| Morning myoclonic jerks 0.9071744304658336 1.0180485009555358 0.3086549074669262 1.0 1.0 2 Q14108 1 |
| Diarrhea 0.6392205587232751 1.0177661077514704 0.308789122259697 1.0 1.0 67 P54802,Q15904,P15586,P15260,Q13277,P07686,P06280,P11310,P42892,P38571,O00592,P01889,P03886,P02786,Q13510 15 |
| Photophobia 0.5611158632790989 1.0168348897333497 0.3092319814755617 1.0 1.0 32 P04080,P07602,P01889,P04439 4 |
| Vertigo 0.5379695939526625 1.015942345409028 0.3096568424145554 1.0 1.0 24 P01889,P0DP25,P06280,P14923,Q9NZ08 5 |
| Aplasia hypoplasia of toe 0.5576139778721693 1.0130745912592047 0.3110245337181287 1.0 1.0 31 Q7LGA3,O96028,Q9NX62,Q9BPU6,Q9UBM7,Q13510,O75648,P10644 8 |
| Abnormal temper tantrums 0.586405836718354 1.0122835816680869 0.3114024827215527 1.0 1.0 7 P04062 1 |
| Hypoplastic heart 0.7244897959183862 1.0118841226427795 0.3115934616272606 1.0 1.0 3 Q12768,Q9UQR1 2 |
| Long upper lip 0.904794287657261 1.0097166321134772 0.3126310716467739 1.0 1.0 2 Q96L58 1 |
| Phalangeal dislocation 0.9034342060523648 1.004961385213207 0.3149154440816226 1.0 1.0 2 Q96L58 1 |
| Advanced ossification of carpal bones 0.9034342060523648 1.004961385213207 0.3149154440816226 1.0 1.0 2 Q96L58 1 |
| Gingival overgrowth 0.5324273376090571 1.0029978646382465 0.315861891540059 1.0 1.0 23 P16278,O00754,Q9UBM7 3 |
| Abnormality of the gallbladder 0.5661379150718664 1.0009728444380634 0.3168399371232904 1.0 1.0 35 P07602,P04066,Q9UBM7 3 |
| Proportionate short stature 0.5573984210628605 0.9978234242269804 0.3183649894275204 1.0 1.0 32 Q15392,P16278,P48651,P53701,Q96L58,P10619,Q14739,Q8WVQ1,P10644 9 |
| Abnormal arterial physiology 0.5391842660504268 0.991905709139526 0.3212435238651978 1.0 1.0 26 P01889,P05067,P06280,Q9NZ08,Q14739 5 |
| Red eye 0.5112038637706093 0.98994138888186 0.3222027678362698 1.0 1.0 17 P01889,Q9NZ08,Q14739,P02786 4 |
| Ventricular arrhythmia 0.5816293322055028 0.9885397334415448 0.3228883850510895 1.0 1.0 42 Q14126,P10253,P42892,P14923,Q02487,P03886,O43772,P19022,P13473 9 |
| Abnormal atrioventricular valve physiology 0.5886245967917181 0.9873148331388848 0.3234883211942003 1.0 1.0 45 Q15904,P10644,P01130,Q6NUK1,P01889,O00754,P06280,P53701,Q96L58,Q9NZ08,P19022,P04062 12 |
| Abnormality of carpal bone ossification 0.6452065711251522 0.9839373891014837 0.3251462986175226 1.0 1.0 4 Q96L58 1 |
| Onset 0.3729186401307371 0.9763820130486964 0.3288751916069921 1.0 1.0 366 O00165,O14773,P07602,Q07021,P04792,O00584,Q96JM3,P06280,P14923,P61916,P50897,P06865,O00400,Q14574,Q5UCC4,P41440,Q5KU26,Q13277,Q02487,Q13510,Q96EK5,P39210,Q8IV08,P51970,P54802,Q15904,O15118,Q6NUK1,O43505,Q9UQN3,P16278,Q96KP1,Q9Y6M1,P07686,Q12768,Q9NQ11,O60508,P04062,P11166,Q7LGA3,P51798,P38571,P11233 43 |
| Elevated urinary monocarboxylic acid level 0.7141176146157668 0.9745705888639832 0.3297733085546903 1.0 1.0 3 P11310 1 |
| Abnormal t wave 0.641452783189656 0.9697937057036374 0.3321493309016934 1.0 1.0 4 P14923 1 |
| Paraparesis 0.5394603768879174 0.963689903405166 0.335201417819817 1.0 1.0 28 P35637,Q9H6K4,Q13501,Q9Y619,Q13148,Q13510,Q9NQ11,P04062,O75787 9 |
| Nail dysplasia 0.5365568163317436 0.9636142651690952 0.3352393522027044 1.0 1.0 27 O96028,P48651,P42892,P10321,P15924 5 |
| Abnormality of circulating leptin level 0.710959921038504 0.9632596283399132 0.3354172479200927 1.0 1.0 3 O75844 1 |
| Intracranial hemorrhage 0.5214447479047557 0.9624671155840356 0.3358150140861995 1.0 1.0 22 P05067 1 |
| Abnormal lung lobation 0.5136589846690445 0.9620579268232984 0.3360205068116935 1.0 1.0 12 Q9UBM7 1 |
| Shoulder girdle muscle weakness 0.5136113377774059 0.9618272305889164 0.3361363970738313 1.0 1.0 12 P07602,O14979 2 |
| Oculogyric crisis 0.530003992316198 0.96118566469365 0.3364588229346958 1.0 1.0 10 Q96JM3,Q9NQ11,P67870 3 |
| Fasciculations 0.5633935678241667 0.95993155241272 0.3370896649614883 1.0 1.0 37 Q9BQT8,P07602,Q9UQN3,Q13501,P07686,P06280,Q13510 7 |
| Abnormality of ocular smooth pursuit 0.5147571478782001 0.9597857374165304 0.337163061957388 1.0 1.0 20 O00754,O14773 2 |
| Scrotal hypoplasia 0.4982949256675874 0.9570172538873416 0.3385585463862215 1.0 1.0 15 Q9UBM7 1 |
| Scleroderma 0.6021976368042474 0.956847838233763 0.3386440624195235 1.0 1.0 6 Q14191 1 |
| Ectrodactyly 0.4982484933543619 0.9567803740229782 0.3386781202261959 1.0 1.0 15 P04792,Q99720,Q9UBM7 3 |
| Abnormal electroretinogram 0.5393973987906341 0.9487838515454634 0.3427305566295873 1.0 1.0 29 O14773 1 |
| Acetabular dysplasia 0.5418381452487804 0.9454974528227212 0.3444049706167131 1.0 1.0 8 P16278 1 |
| Telangiectasia 0.5470837474815431 0.9311251212780148 0.3517888452600635 1.0 1.0 33 Q14191,Q8IZA0,P06280,P10619,P03886 5 |
| Pleural effusion 0.5310068490320409 0.9304591293905616 0.3521334159082734 1.0 1.0 9 P01889,Q14739 2 |
| Abnormal pulmonary interstitial morphology 0.541245311090244 0.9294839319009912 0.3526383485925795 1.0 1.0 31 Q14108,Q08426,Q8IZA0,P15924,Q13510,P04062 6 |
| Abnormal vascular physiology 0.5797107395454949 0.9292410498661706 0.3527641780149886 1.0 1.0 46 Q14108,Q6NUK1,P01889,P05067,Q8IZA0,P51798,P06280,O96000,P04062,Q9NZ08,P03886,Q14739,P51970 13 |
| Bacterial endocarditis 0.8813328799728042 0.928334270482214 0.3532342023957122 1.0 1.0 2 P04062 1 |
| Congenital craniofacial dysostosis 0.8813328799728021 0.9283342704822054 0.3532342023957167 1.0 1.0 2 Q6NUK1 1 |
| Memory impairment 0.5570587967764593 0.9275158293406957 0.3536587769753008 1.0 1.0 37 P07602,Q13501,P05067,P01889,P03886 5 |
| Type ii transferrin isoform profile 0.8809928595715808 0.9271656267428404 0.3538405465972378 1.0 1.0 2 Q15904 1 |
| Abnormal sputum 0.5946306252955456 0.9271047957643382 0.3538721264065769 1.0 1.0 6 P01889 1 |
| Functional abnormality of the gastrointestinal tract 0.4249726635851218 0.9264947106441008 0.3541889446493216 1.0 1.0 255 P07602,P15586,P05067,P06280,P42892,P61916,Q14108,P15260,Q99720,O75874,O00754,Q9BPU6,P15924,Q13510,Q14739,P48735,O15118,Q8IZA0,Q9UBM7,Q9NQ11,P04062,P08183,Q13501,P01889,P03886 25 |
| Ectopic calcification 0.6009390546325561 0.9252355380735046 0.3548434014750485 1.0 1.0 56 Q14191,O00584,P05067,P38571,Q9UBM7,P53634,P01130,P03886,Q14739,P04062 10 |
| Retrocollis 0.8799727983679092 0.9236616921996408 0.3556624829136019 1.0 1.0 2 Q99720 1 |
| Psychosis 0.5395893160985357 0.921042284313014 0.3570283511599319 1.0 1.0 31 O15118,Q13501,Q9NQ11,P61916,P03886 5 |
| Melanoma 0.4912015477678176 0.9208614811196948 0.3571227512070207 1.0 1.0 15 P53634 1 |
| Fetal akinesia sequence 0.6111878079247333 0.9205924827145296 0.3572632283806232 1.0 1.0 5 P04062 1 |
| Cerebral hypoplasia 0.4958737980848324 0.9168880230492992 0.3592013206846651 1.0 1.0 13 P35606,Q9UBM7 2 |
| Enlarged thorax 0.4958044194737231 0.9165441053408524 0.3593815854853031 1.0 1.0 13 O75844,Q14739,P04066 3 |
| Infection related seizure 0.5122619488186972 0.9157117977201492 0.359818075517746 1.0 1.0 22 Q5UCC4,P11310,P05067 3 |
| Abnormality of periauricular region 0.5060963161327756 0.915687576606759 0.3598307828655798 1.0 1.0 20 Q12768,Q07954 2 |
| Death in adulthood 0.4864941650834596 0.9135394802551248 0.3609588793607834 1.0 1.0 14 P05067 1 |
| Skeletal muscle hypertrophy 0.5662977629064889 0.9098009705919802 0.3629274826386339 1.0 1.0 42 P16278,P04066,P07686,P10253,O00754 5 |
| Splenomegaly 0.6461106278975678 0.9079542715127236 0.3639023821500551 1.0 1.0 86 P07602,P15586,P10253,P61916,Q14108,P15260,P04066,O00754,Q13510,Q14739,P54802,Q15904,O15118,P16278,P04062,Q15392,P11166,P51798,P38571,P01889 20 |
| Proximal tubulopathy 0.5136407969381268 0.907282194322644 0.3642575876218377 1.0 1.0 23 P03886,P98164,Q9Y6M9,O96000 4 |
| Abnormality of the pulmonary veins 0.5892122124045681 0.9058715398117124 0.3650038497318926 1.0 1.0 6 Q15392 1 |
| Generalized muscle weakness 0.5415290290044849 0.9027968812449116 0.3666337066869531 1.0 1.0 33 Q9UHD9,P35637,O95831,Q9UQN3,P53007,Q13501,Q13148,P10253,Q92804,Q9NQ11,P06753 11 |
| Broad distal phalanx of finger 0.5878798852409798 0.9006594715164751 0.3677694035608889 1.0 1.0 6 Q96L58,Q7LGA3 2 |
| Abnormal urine sodium concentration 0.8724923495409758 0.8980601239326547 0.3691534965656355 1.0 1.0 2 Q08426 1 |
| Entropion 0.5236804921586523 0.8976314164811239 0.3693820842526829 1.0 1.0 9 P01889 1 |
| Intestinal malrotation 0.5233918411183822 0.8965757538615241 0.3699453407649711 1.0 1.0 27 Q15392,Q8NCH0,Q9UBM7,P98164,Q14739 5 |
| Ectopic anus 0.4821904893247761 0.8916427115922374 0.372584469069237 1.0 1.0 14 P53701,P48651,Q6NUK1 3 |
| Anonychia 0.4852917404165762 0.8907965019574141 0.3730383521219325 1.0 1.0 15 P14923,Q14739,P15924 3 |
| Abnormal circulating metabolite concentration 0.3520857994891824 0.8854122456538088 0.3759343301823152 1.0 1.0 323 P07602,Q07021,Q8N511,P05067,P34913,P10253,P06280,P11310,P61916,Q9HC07,P01130,Q9BQP7,O43772,O00400,P15260,P0DP25,P41440,Q14126,Q9Y6M9,P15924,Q14739,P39210,O96000,P13473,O75648,Q15904,P48735,P28070,O43505,O14979,Q9BWD1,Q9UBM7,P06753,Q10471,P50402,P10644,Q15392,O75844,Q9NPL8,P11166,Q08426,Q13501,P51798,P11171,P38571,P03886 46 |
| Abnormal visual electrophysiology 0.5687957815517771 0.8852752092303817 0.3760082173112604 1.0 1.0 45 O75503,O14773,P07602 3 |
| Fragile nails 0.5208010198204138 0.8847550272841882 0.3762887699624269 1.0 1.0 9 Q96ST3,Q9Y487,Q10567,P15924 4 |
| Aplasia hypoplasia of the eyebrow 0.5564060265462373 0.8847424627821915 0.3762955480433518 1.0 1.0 40 Q14574,Q07954,P15924,P14923,Q02487 5 |
| Rapidly progressive 0.5055056446991846 0.8840803607891733 0.3766528340080874 1.0 1.0 11 Q14108 1 |
| Retinal dysplasia 0.5201080143461742 0.8816584321885786 0.3779615461724046 1.0 1.0 9 O43505 1 |
| Aplasia hypoplasia involving the skeletal musculature 0.5270140925869133 0.8806348136584088 0.3785155093173205 1.0 1.0 8 O43505 1 |
| Abnormal mitochondrial shape 0.6175708339038413 0.8805835087902201 0.3785432876979806 1.0 1.0 4 Q9GZY8,P22570 2 |
| Prominent ear helix 0.6874149659863993 0.8797487750174279 0.3789954201901597 1.0 1.0 3 P02545,O75844 2 |
| Bradykinesia 0.5080160555002905 0.878717103240553 0.3795546828327563 1.0 1.0 23 O00592,Q9NQ11 2 |
| Hyperreflexia in upper limbs 0.5116293854175666 0.8768123901517371 0.3805885481619844 1.0 1.0 10 Q9NZ09,Q9NQ11 2 |
| Spastic tetraparesis 0.5097760638798606 0.8723845442170053 0.3829986293544083 1.0 1.0 24 P07602 1 |
| Hyperactive deep tendon reflexes 0.5247924203566803 0.8709483061981108 0.3837823792317816 1.0 1.0 8 P11166,O75787 2 |
| Abnormal delivery 0.4999109972831987 0.8685647457465384 0.3850852443029453 1.0 1.0 21 O75718,O75844,Q14191,Q9Y619,Q02809,Q9UBM7,P06753,Q9Y487,Q8NC56 9 |
| Malignant neoplasm of the central nervous system 0.502776028940356 0.8675461748349501 0.3856428233894229 1.0 1.0 22 O75874 1 |
| Abnormal hair morphology 0.343079612587655 0.8673547314723973 0.3857476770333659 1.0 1.0 304 P15586,P04080,Q07954,P14923,Q96ST3,Q8WVQ1,Q14574,Q5UCC4,P62899,Q14191,P04066,O60828,Q5KU26,O00754,P48651,Q9BPU6,P15924,P53634,Q02487,Q96EK5,P98164,O75648,P54802,Q6NUK1,O96028,P16278,P53701,Q9UBM7,Q96L58,Q12768,P19022,P10644,O75844,P11166,Q7LGA3,Q9Y296,P51798,P11233,P01889,P03886 40 |
| Deviation of the 2nd finger 0.6135182396139301 0.86559770035909 0.3867108171440294 1.0 1.0 4 Q9H6K4,Q8WVQ1 2 |
| Cirrhosis 0.5471446805358661 0.8636032260426012 0.3878058913622175 1.0 1.0 38 Q15904,Q14108,P11717,P38571,Q14739,P04062 6 |
| Abnormal urine cytology 0.5444371029209834 0.863082780834585 0.3880919545401315 1.0 1.0 37 P06280,Q14108,P04062 3 |
| Abnormal mitral valve physiology 0.5413947643292233 0.8610058521594641 0.389234819923848 1.0 1.0 36 P01889,O00754,P06280,P53701,P01130,P04062 6 |
| Abnormality of the larynx 0.558129245794958 0.8553716483286936 0.3923454340682684 1.0 1.0 43 Q9UHD9,P35637,P07602,Q9UQN3,Q13501,Q14191,Q9UBM7,Q92804,Q13510,Q14739,Q14807 11 |
| Abnormal cardiac test 0.4814639087133976 0.854941799699798 0.3925833685276174 1.0 1.0 16 P10253,P14923 2 |
| Enlarged ovaries 0.6105036683594298 0.8544829001974843 0.392837480061724 1.0 1.0 4 P10644 1 |
| Polycystic liver disease 0.6087293732660614 0.8479544862725733 0.3964633184810389 1.0 1.0 4 P14314 1 |
| Abnormal blood phosphate concentration 0.518463403547981 0.8434121105635689 0.3989980011289078 1.0 1.0 8 P51798,Q08426 2 |
| Broad palm 0.6070370368753932 0.8417371651987668 0.3999350902856147 1.0 1.0 4 Q14739,P10644 2 |
| Abnormal middle phalanx morphology of the hand 0.5450941588628553 0.8411891796383032 0.4002419612799914 1.0 1.0 7 P48651 1 |
| Abnormality of the nasal skeleton 0.5900824504936513 0.8404132187311425 0.4006767401048883 1.0 1.0 5 P10644,Q6NUK1,O14974 3 |
| Abnormal choroid morphology 0.5003009040707367 0.8396346936520693 0.4011132406926438 1.0 1.0 23 P53701,P04439,O43505 3 |
| Abnormal chorioretinal morphology 0.5003009040707367 0.8396346936520693 0.4011132406926438 1.0 1.0 23 P53701,P04439,O43505 3 |
| Hydrops fetalis 0.5422408663063716 0.8386237024497936 0.4016805055108623 1.0 1.0 38 P62899,P16278,P11171,Q13510,P10619,Q14739,P04062 7 |
| Radial bowing 0.6061044473667528 0.8383150546376709 0.4018537829591291 1.0 1.0 4 Q96L58 1 |
| Epistaxis 0.4716736812938279 0.8382895904684149 0.4018680807578838 1.0 1.0 14 O15460,P04062,P01889,P49257,P12814,P10644,Q6UN15 7 |
| Dysphasia 0.4802384971509713 0.8325058199384486 0.4051234944897925 1.0 1.0 17 Q13501,Q9UQN3 2 |
| Hyperhidrosis 0.5159785292717789 0.8297621988445923 0.4066732470732086 1.0 1.0 29 P07686,P01889,P04066 3 |
| Sensory axonal neuropathy 0.4728242049154062 0.827599381309751 0.4078974187662394 1.0 1.0 15 Q8IV08 1 |
| Abnormal periventricular white matter morphology 0.5452036014429625 0.8275755128870745 0.4079109407192614 1.0 1.0 40 O75503,P17900,P07602 3 |
| Involuntary movements 0.3421588240007239 0.8272526686429987 0.408093864871379 1.0 1.0 307 O14773,P07602,P04792,O00584,P05067,Q96JM3,P06280,P61916,O00592,O75503,P50897,O00400,Q14108,Q9BQT8,Q5UCC4,Q99720,P17900,P41440,Q9BPU6,Q13510,Q9UQN3,P07686,Q9BWD1,Q12768,Q9NQ11,P04062,P11166,Q13501,P51798,P03886 30 |
| Abnormal left ventricle morphology 0.5153983123389417 0.8268266131147324 0.4083353435174195 1.0 1.0 29 P03886,P10253,P06280,Q6NUK1 4 |
| Ventricular hypertrophy 0.5344695612053306 0.8257982756203216 0.4089185324477573 1.0 1.0 36 Q07021,Q6NUK1,P10253,P06280,P03886,O43772,O75787 7 |
| Stillbirth 0.500002159582529 0.8237600565252715 0.4100759076558335 1.0 1.0 10 Q14739,P04062 2 |
| Abnormal 2nd finger morphology 0.5852506151016388 0.822232095213257 0.4109448154340147 1.0 1.0 5 Q9H6K4,Q8WVQ1 2 |
| Abnormality of extrapyramidal motor function 0.6055670296633148 0.821561005033322 0.4113267904472093 1.0 1.0 69 P06865,P07602,Q99720,P17900,P16278,P05067,P07686,O00592,Q9NQ11,P04062 10 |
| Curly hair 0.5063199419932107 0.8202673969747105 0.4120636881642847 1.0 1.0 9 P14923 1 |
| Restrictive ventilatory defect 0.4837909746863508 0.8181796319271077 0.4132546236763983 1.0 1.0 12 P16278,P01889 2 |
| Chest pain 0.4735282474028641 0.8148153137440873 0.4151780338659203 1.0 1.0 16 P19022 1 |
| Retinal atrophy 0.4979093519207478 0.812353104432332 0.4165890469848299 1.0 1.0 24 Q7LGA3,P04439,Q9BPU6,O75648,P04062 5 |
| Abnormal femoral neck head morphology 0.549696360768118 0.812299782091433 0.4166196355704152 1.0 1.0 43 O75718,O75844,Q7LGA3,P15260,P16278,Q9Y619,P04066,O00754,Q96L58,Q9Y2D4,Q14739,Q8WVQ1 12 |
| Aphasia 0.5340532386042762 0.8102866188341449 0.417775464189567 1.0 1.0 37 Q9UQN3,Q7LGA3,Q13501,P05067,Q9BPU6,P03886 6 |
| Limited wrist movement 0.5975971219938652 0.8072361886078259 0.4195304199478595 1.0 1.0 4 O75844,Q9H6K4 2 |
| Abnormality of the metacarpal bones 0.5280979741571907 0.8070234703727758 0.4196529612110595 1.0 1.0 35 Q6NUK1,O96028,P16278,O60828,Q9NX62,P48651,P51798,Q9UBM7,Q96L58,Q14739,Q8WVQ1,P10644,Q14807 13 |
| Papilledema 0.4748525495482819 0.8053209971833326 0.4206344681269731 1.0 1.0 17 O75648,Q9BPU6,P04062,Q7LGA3 4 |
| Brain imaging abnormality 0.5218982624808008 0.803108984957356 0.4219117449251572 1.0 1.0 33 P07602,P11166,Q9UQN3,Q13501,P03886 5 |
| Pain insensitivity 0.5959057599219781 0.8010883490518479 0.4230805006705549 1.0 1.0 4 P39210 1 |
| Aplasia hypoplasia of the abdominal wall musculature 0.579494708946346 0.8006713620467173 0.4233219258071892 1.0 1.0 5 Q6NUK1 1 |
| Aplastic clavicle 0.6644034855069056 0.799817935351584 0.4238162900300377 1.0 1.0 3 P48651 1 |
| Genu valgum 0.5013335588526764 0.7996886287759959 0.4238912228614269 1.0 1.0 26 Q7LGA3,P16278,Q9Y619,Q9NX62,O00754,P51798,Q96L58 7 |
| Aplasia hypoplasia of the cerebral white matter 0.4934384784657655 0.7939637699412943 0.4272165233558074 1.0 1.0 10 P03886 1 |
| Abnormal thrombosis 0.4912088831392124 0.7937582423517249 0.4273361865736205 1.0 1.0 23 O75874,P48735,P38571 3 |
| Poor wound healing 0.5772556866735031 0.7923145138058558 0.4281773109842406 1.0 1.0 5 O15269,P04062 2 |
| Abnormal femoral neck morphology 0.5223347523328362 0.7915241026388038 0.4286382168456557 1.0 1.0 34 O75718,O75844,P16278,Q9Y619,P04066,O00754,Q96L58,Q9Y2D4,Q8WVQ1 9 |
| Dermal translucency 0.4997764862499865 0.7913019028260647 0.4287678383126496 1.0 1.0 9 Q6NUK1,Q96L58 2 |
| Arterial thrombosis 0.5594952881477615 0.7906363188607147 0.4291562467159961 1.0 1.0 6 P27797,P01889,Q9NZ08 3 |
| Hammertoe 0.4750966364674493 0.7905446674114884 0.4292097468827121 1.0 1.0 18 Q99720,Q9UBM7 2 |
| Scarring alopecia of scalp 0.6604836580357832 0.7863985164063292 0.4316340523690836 1.0 1.0 3 P61586 1 |
| Fat malabsorption 0.5048165512032136 0.7843792953895914 0.4328175835751873 1.0 1.0 8 P38571 1 |
| Nonimmune hydrops fetalis 0.4982673135158059 0.7842480525592693 0.4328945742225265 1.0 1.0 26 P62899,Q14739,P10619,P04062 4 |
| Neoplasm of the endocrine system 0.5288063543723956 0.7837037811078621 0.433213943370516 1.0 1.0 37 O75874,P42892,P48735 3 |
| Abnormal reflex 0.3466739521286242 0.7805188454260997 0.4350855393367863 1.0 1.0 324 P35606,Q9NZ09,O14773,P07602,P53007,P04792,Q00534,Q9Y3B2,Q96IX5,Q13148,P10253,P11310,Q8NBU5,O00592,Q9NZ08,Q9BQP7,O75503,Q3ZCQ8,O00400,Q6PI48,Q9BQT8,Q99720,P17900,O60828,P41440,Q5KU26,Q9GZY8,O15269,O00754,P07384,Q13510,Q14739,P39210,O75648,P54802,Q96BR5,Q9H6K4,O43505,Q9UQN3,O14979,P07686,P06753,Q12768,Q9NQ11,O60508,P04062,P50402,O75787,P35637,P11166,Q9Y3C6,Q13501,Q9BVA1,Q9Y619,P01889,P03886 56 |
| Optic neuropathy 0.4913546315989826 0.7793476537767755 0.4357749503997685 1.0 1.0 24 P03886,P01130,Q9Y6M9,O96000 4 |
| Scotoma 0.4754433974901842 0.7783416806148953 0.4363676097575988 1.0 1.0 12 P04439 1 |
| Abnormal anatomic location of the heart 0.5027479788954727 0.7754778860762637 0.4380573276938593 1.0 1.0 8 P19022,O60828 2 |
| Abnormality of skin adnexa physiology 0.5296366135344577 0.7746631946306682 0.4385387047734572 1.0 1.0 38 P07686,P01889,P06280,P04066 4 |
| Abnormality of hair texture 0.5537409914025526 0.7720248655900901 0.4400997003595575 1.0 1.0 48 P54802,Q6NUK1,P15586,O60828,P04080,P51798,Q9BPU6,P14923,P15924,Q96ST3,Q02487 11 |
| Missing ribs 0.4807757106046035 0.7687141142320556 0.4420630441716486 1.0 1.0 11 Q14739,Q96L58 2 |
| Sporadic 0.4827529032355868 0.7665392772476329 0.4433554906361656 1.0 1.0 22 Q96ST3,Q9BWD1,P48651,P04062 4 |
| Bilateral sensorineural hearing impairment 0.4909676506748028 0.7624240007065202 0.4458069862697866 1.0 1.0 25 Q13501,P07602 2 |
| Death in infancy 0.564870273224707 0.7602958500021296 0.4470777619537163 1.0 1.0 54 O75718,Q15904,P07602,Q6NUK1,P16278,O60828,Q13277,P38571,Q12768,O60508,P04062 11 |
| Congenital diaphragmatic hernia 0.4813337719795167 0.7594245432994152 0.44759863634273 1.0 1.0 22 Q96ST3,P98164,P53701,Q9UBM7 4 |
| Distal joint laxity 0.8306698401904102 0.7584486320033498 0.4481824535634346 1.0 1.0 2 Q02809 1 |
| Synostosis involving bones of the hand 0.4780927149845224 0.7563055942682443 0.4494659947946888 1.0 1.0 11 P48651,Q96L58 2 |
| Keratoconjunctivitis 0.4917307187169213 0.7558648530038845 0.449730228566954 1.0 1.0 9 P01889,Q14739 2 |
| Action tremor 0.5524029524379709 0.7534142803964301 0.4512010040723782 1.0 1.0 49 O14773,P07602,Q14108,Q99720,P03886,Q9NQ11 6 |
| Abnormal enchondral ossification 0.4861599277271296 0.7532838247599724 0.4512793766795504 1.0 1.0 24 O96028,Q9Y619,Q9UBM7,Q96L58,Q14739,Q8WVQ1,P10644 7 |
| Broad forehead 0.5226447497399941 0.7525832747647445 0.4517003712375893 1.0 1.0 37 Q8NCH0,Q6NUK1,Q5UCC4,O00754,P48651,P98164,P19022 7 |
| Keratitis 0.4833682153270052 0.7485068982861064 0.4541544657456304 1.0 1.0 10 P01889,Q14739 2 |
| Disproportionate tall stature 0.493913521792088 0.7476887015169301 0.4546479477203198 1.0 1.0 27 Q8NCH0,Q7LGA3,O96028,O00754,Q9BPU6,O75648 6 |
| Phocomelia 0.648810088212419 0.7468153390450372 0.4551750351917472 1.0 1.0 3 Q6KC79 1 |
| Mandibular aplasia 0.5806641210581567 0.746196787014644 0.4555485487487218 1.0 1.0 4 P53701,Q9Y619 2 |
| Impaired distal tactile sensation 0.5806123808642866 0.7460121067507159 0.4556601016300694 1.0 1.0 4 P39210 1 |
| Aplasia hypoplasia affecting the anterior segment of the eye 0.4752993791951165 0.7445742359953808 0.4565291478484719 1.0 1.0 21 P98164 1 |
| Abnormal sternal ossification 0.5801066537011035 0.7442075991250168 0.4567508914197593 1.0 1.0 4 O96028 1 |
| Finger syndactyly 0.4930771506597914 0.743500145333448 0.457178933565264 1.0 1.0 27 P48651,P15924,P14923,Q96EK5,Q9UBM7 5 |
| Limited hip movement 0.4598542440001913 0.7398217253639184 0.4594081746929082 1.0 1.0 13 P06753,Q7LGA3 2 |
| Craniofacial hyperostosis 0.5461508636349366 0.7397405686402536 0.4594574268280496 1.0 1.0 6 P48651 1 |
| Impaired tandem gait 0.455214991095168 0.7390744997967087 0.4598617602833925 1.0 1.0 15 O75648,Q9BPU6,O75787,Q7LGA3 4 |
| Abnormal involuntary eye movements 0.3807167909522615 0.7359647986597057 0.4617521206314434 1.0 1.0 263 O14773,P07602,O00584,O43772,O75503,O00400,Q5UCC4,Q99720,P17900,P41440,Q5KU26,Q13277,O00754,Q9BPU6,Q13510,P39210,Q8IV08,Q6NUK1,Q9UBM7,Q9NQ11,P04062,Q15392,Q7LGA3,Q13501,P01889,P03886 26 |
| Abnormal sacrum morphology 0.4910929833852122 0.7335733354721156 0.4632088170396327 1.0 1.0 27 P01889,P53701,Q14739,P04066 4 |
| Abnormal paranasal sinus morphology 0.4666249426243611 0.7323065902276721 0.4639814578044889 1.0 1.0 19 P04066 1 |
| Abnormal hand bone ossification 0.5604189850536104 0.7300719542867733 0.4653462033523221 1.0 1.0 5 Q96L58 1 |
| Incomitant strabismus 0.4497431632170627 0.7280291575095801 0.46659573780929 1.0 1.0 14 O75648,Q9BPU6,Q7LGA3 3 |
| Wide cranial sutures 0.5169952125457475 0.7271467810688541 0.4671360436084728 1.0 1.0 7 O75718,O75844 2 |
| Perimembranous ventricular septal defect 0.5167247354218566 0.7260621530734621 0.4678006692547563 1.0 1.0 7 P0DP25,O95298 2 |
| Hip contracture 0.4778504386686474 0.7237513622283421 0.4692183942364578 1.0 1.0 10 Q7LGA3 1 |
| Excessive wrinkling of palmar skin 0.8177490649438962 0.7167429875368302 0.4735326959530346 1.0 1.0 2 Q02809 1 |
| Palmoplantar cutis laxa 0.8177490649438962 0.7167429875368302 0.4735326959530346 1.0 1.0 2 Q02809 1 |
| Abnormal circulating lipid concentration 0.5888374817441279 0.715514805303108 0.4742909957478232 1.0 1.0 71 Q15392,Q15904,P07602,Q8N511,P28070,Q08426,Q10471,P50402,P34913,Q14739,P06280,P11310,P38571,Q9UBM7,P61916,P01130,O43772,O75648 18 |
| Pulmonary artery dilatation 0.461894369512269 0.7141851131374606 0.4751127210190375 1.0 1.0 12 O75648,Q9BPU6,Q7LGA3 3 |
| Abnormality of the phalanges of the hallux 0.8167290037402302 0.7134832826539995 0.4755467541650833 1.0 1.0 2 Q8WVQ1 1 |
| Gonadal neoplasm 0.475018830865197 0.7126990930181659 0.4760319778483457 1.0 1.0 23 P48735,Q14191,O75874,Q13423,P10644 5 |
| Abnormal oral mucosa morphology 0.5508529854468296 0.7109566363300697 0.4771111078231995 1.0 1.0 52 Q15392,Q14108,P16278,O00754,P15924,P53634,Q9UBM7,P01889,P04062 9 |
| Abnormality of femur morphology 0.571580421251405 0.7105269318857742 0.4773774360105234 1.0 1.0 62 O75718,O75844,P07602,Q7LGA3,P15260,P16278,Q9Y619,P04066,P51798,P06280,O00754,Q96L58,Q9Y2D4,Q14739,Q8WVQ1,P04062,Q14807 17 |
| Abnormalities of placenta or umbilical cord 0.4606195778697737 0.7081860309060523 0.4788297397977947 1.0 1.0 12 Q12768,P16278 2 |
| Psychotic mentation 0.5371880312096877 0.7059270995846774 0.4802334738730893 1.0 1.0 6 P03886,P48637 2 |
| Pulmonary hypoplasia 0.4697734307093991 0.7017433021414943 0.482839263105671 1.0 1.0 22 Q6NUK1,O96000,Q96L58,Q9UBM7,Q14739 5 |
| Conspicuously happy disposition 0.8126487589255416 0.7004946092021636 0.4836184705873383 1.0 1.0 2 Q96ST3 1 |
| Kinetic tremor 0.4901418659885081 0.6999898650175049 0.4839336338448952 1.0 1.0 29 P07602,Q14108,P41440 3 |
| Abnormal protein glycosylation 0.4468036035935738 0.6971946040280527 0.4856810153858777 1.0 1.0 15 Q15904,Q8N511,O75340,P39656,Q10471,O75787 6 |
| Increased susceptibility to fractures 0.5412806749316109 0.6968638053689843 0.4858880308918314 1.0 1.0 49 O75718,P10644,P48735,Q14108,Q08426,Q13501,O75874,P51798,P04062,Q96L58,Q9Y2D4,Q14739,P39210,P06753 14 |
| Aortic root aneurysm 0.4684037253928372 0.694944872260401 0.4870898502047978 1.0 1.0 22 Q7LGA3,Q9BPU6,Q96L58,O75648,P06753 5 |
| Irregular vertebral endplates 0.5333843335922207 0.6916772340111669 0.4891400469957605 1.0 1.0 6 Q9Y2D4,Q14807,Q96L58 3 |
| Macrodontia 0.4487957979392828 0.6910516829486838 0.4895330625513976 1.0 1.0 16 O75648,Q9BPU6,O60828,Q7LGA3 4 |
| Disseminated intravascular coagulation 0.5060199340479705 0.6833759352576867 0.4943693223343248 1.0 1.0 7 P38571 1 |
| Joint contractures involving the joints of the feet 0.481046040910788 0.6830083018201992 0.4946015966937953 1.0 1.0 8 P14923,P15924 2 |
| Abnormality of the pharynx 0.5190282523490918 0.6824291439410544 0.4949676325617822 1.0 1.0 41 P54802,P15586,P16278,Q13510,P01889 5 |
| Metaphyseal widening 0.4564987105735205 0.6819934963968154 0.4952430632556677 1.0 1.0 19 P16278,P48651,Q96L58,Q9Y2D4,Q14739,Q8WVQ1 6 |
| Abnormal pupil morphology 0.4669591231593453 0.6752534940467657 0.4995147252429448 1.0 1.0 10 Q96ST3,O96028,Q9NRG9,P61586 4 |
| Gait ataxia 0.5770032263965253 0.6715554010463292 0.5018667788983227 1.0 1.0 69 O14773,P07602,Q14108,O15118,Q13501,P03886,O00754,O00592,Q9NQ11,Q8IV08 10 |
| Athetosis 0.4502982923974282 0.6669342282956106 0.5048141462835614 1.0 1.0 18 O00584 1 |
| Neuroinflammation 0.557962718414435 0.6663914425242125 0.5051609308311378 1.0 1.0 4 P01889 1 |
| Decreased muscle mass 0.446805306850388 0.6653804745431537 0.5058071702914662 1.0 1.0 17 Q8NCH0,O96028,P04066,Q02809,Q9NP72,Q9Y487 6 |
| Focal impaired awareness seizure 0.4465113878382279 0.6639320786873635 0.5067337837821282 1.0 1.0 17 Q96JM3,P19022,P67870 3 |
| Proptosis 0.537055184958495 0.6638630856129104 0.5067779444610845 1.0 1.0 50 O75718,O75844,Q6NUK1,O96028,Q5KU26,Q9NX62,O00754,Q9BPU6,Q9UBM7,Q9Y2D4,Q96L58,P98164,Q8WVQ1 13 |
| Hemianopia 0.4764154990939014 0.6635293746687253 0.5069915727385594 1.0 1.0 8 Q9BVA1,P03886,Q12824,P00403 4 |
| Abnormality of the ribs 0.5541545307599322 0.662165063094122 0.5078654418667505 1.0 1.0 58 P54802,O75718,O75844,P15586,O96028,P16278,Q9Y619,P51798,P48651,O00754,Q9UBM7,Q96L58,Q9Y2D4,Q12768,Q14739 15 |
| Abnormal qrs complex 0.7993879632778069 0.6588595010371016 0.5099859943813154 1.0 1.0 2 P14923 1 |
| Dysdiadochokinesis 0.4381875613836349 0.6546368356635391 0.5127016018678778 1.0 1.0 15 O75503,Q13501 2 |
| Metaphyseal cupping 0.6206932180841247 0.6541379528559566 0.5130229318009523 1.0 1.0 3 Q14739 1 |
| Cholangitis 0.7976878612716747 0.6535883946427209 0.5133770231124462 1.0 1.0 2 Q96J02 1 |
| Thick eyebrow 0.5106266287706163 0.6532162011114898 0.5136169070773473 1.0 1.0 40 P15586,O00754,P04066,Q96EK5 4 |
| Hepatic failure 0.5301180960404562 0.6522927796970952 0.5142123170007391 1.0 1.0 48 O15118,P38571,Q13510,P01889,P03886,O43772,P04062 7 |
| Flat face 0.4625547468738177 0.6510126687737566 0.5150383089142931 1.0 1.0 23 O60716,Q9BUB7,Q9NX62,O00754,Q96L58,Q14807 6 |
| Cortical cataract 0.7966678000680061 0.6504332687536872 0.5154123933621091 1.0 1.0 2 Q9H6K4 1 |
| Joint stiffness 0.5428239397916342 0.6477890666398517 0.5171213878628085 1.0 1.0 54 P54802,P48735,P15586,P16278,O75874,O00754,P01889 7 |
| Abnormal urine potassium concentration 0.7949676980618922 0.645187409289226 0.5188057444555005 1.0 1.0 2 Q08426 1 |
| Bowing of the arm 0.5357263028005363 0.6410407998629896 0.521496175300106 1.0 1.0 5 Q96L58 1 |
| Mitochondrial inheritance 0.5195597044381134 0.6404425735520504 0.5218849122186064 1.0 1.0 6 P03886,P00403,O75648 3 |
| Abnormal incisor morphology 0.4319347723847724 0.6399315069667645 0.5222171293625941 1.0 1.0 14 O75648,Q9BPU6,Q7LGA3 3 |
| Incisor macrodontia 0.4319347723847724 0.6399315069667645 0.5222171293625941 1.0 1.0 14 O75648,Q9BPU6,Q7LGA3 3 |
| Abnormal morphology of the limbic system 0.4937438240474379 0.6350637183656793 0.5253868587140742 1.0 1.0 7 Q96JM3,Q9BPU6,P67870 3 |
| Frontal cortical atrophy 0.4307487226177329 0.634123068386462 0.5260005090874165 1.0 1.0 14 O75648,Q9BPU6,Q7LGA3 3 |
| Abnormal form of the vertebral bodies 0.5782648120605031 0.6339579196426617 0.526108284712234 1.0 1.0 74 P15586,Q9Y2D4,Q8WVQ1,P04066,O75874,O00754,Q14739,P54802,P48735,Q6NUK1,O96028,P16278,Q9UBM7,Q96L58,Q12768,P10644,Q9Y619,P51798,Q14807,Q9Y2Q9 20 |
| Eeg with focal spike waves 0.7912274736484277 0.6337031046293736 0.5262745984399169 1.0 1.0 2 P11166 1 |
| Eeg with irregular generalized spike and wave complexes 0.7912274736484277 0.6337031046293736 0.5262745984399169 1.0 1.0 2 P11166 1 |
| Generalized myoclonic atonic seizure 0.7912274736484277 0.6337031046293736 0.5262745984399169 1.0 1.0 2 P11166 1 |
| Male pseudohermaphroditism 0.6135525969421902 0.631282178723751 0.5278560372984371 1.0 1.0 3 P53701 1 |
| Congenital hypothyroidism 0.5477006706980638 0.6312106800010252 0.5279027797232025 1.0 1.0 4 P10644 1 |
| Hypoplasia of the musculature 0.5473774773177439 0.6301126932065888 0.5286208555204686 1.0 1.0 4 P06753 1 |
| Abnormality of the 5th toe 0.5156322526855363 0.6260598017298467 0.5312757174172527 1.0 1.0 6 Q9UBM7 1 |
| Postaxial foot polydactyly 0.5156322526855363 0.6260598017298467 0.5312757174172527 1.0 1.0 6 Q9UBM7 1 |
| Ovotestis 0.7881672900374117 0.6243657796110388 0.5323873933333658 1.0 1.0 2 P53701 1 |
| Cystic liver disease 0.5308084089331315 0.6236845553336479 0.5328347680421022 1.0 1.0 5 P14314 1 |
| Infectious encephalitis 0.4550905021989424 0.6230466743426738 0.5332538506366533 1.0 1.0 10 P01889,Q14739 2 |
| Depressed nasal ridge 0.4413197131203797 0.6228801749925943 0.5333632667686987 1.0 1.0 18 O00754 1 |
| Abnormality of earlobe 0.4596349215078426 0.6218851017025251 0.5340174221704768 1.0 1.0 24 Q15392,Q7LGA3 2 |
| Reticulocytosis 0.4347665671827583 0.6193157405572557 0.5357083769425088 1.0 1.0 13 P51798,P11166 2 |
| Mild postnatal growth retardation 0.7861271676300636 0.6181709082576144 0.5364626846651543 1.0 1.0 2 P10644 1 |
| Focal dystonia 0.4465280371284003 0.6176573255757457 0.5368012478530819 1.0 1.0 20 Q99720,Q9NQ11 2 |
| Hypolipidemia 0.7857871472288397 0.6171407903938783 0.5371418657268754 1.0 1.0 2 Q10471 1 |
| Hypotriglyceridemia 0.7857871472288397 0.6171407903938783 0.5371418657268754 1.0 1.0 2 Q10471 1 |
| Soft skin 0.4594121733036519 0.6161225783818381 0.537813621433227 1.0 1.0 9 Q96L58,O00754,Q14807 3 |
| Weight loss 0.5529959767114753 0.6150197961340517 0.5385416470636577 1.0 1.0 62 P10644,P35637,O75844,P07602,P01889,Q08426,P15260,Q99720,P11310,P42892,P38571,P06753,Q9NZ08,P04062 14 |
| Aphthous ulcer 0.4884468095504766 0.6144546483123345 0.5389149331231218 1.0 1.0 7 P01889 1 |
| Congenital malformation of the right heart 0.4644677556348814 0.6137595875244275 0.5393742058294335 1.0 1.0 8 P01889 1 |
| Coloboma 0.5050947759940521 0.6130545135645058 0.5398402951238119 1.0 1.0 41 O43505,O60828,P53701,Q9UBM7,Q96ST3,Q12768,P98164,Q96EK5 8 |
| Vasculitis 0.4637742361711802 0.6108940781077472 0.5412697055331042 1.0 1.0 8 P01889 1 |
| Hyperkalemia 0.5408841858740088 0.6081889051763365 0.5430621922467072 1.0 1.0 4 P11166 1 |
| Alopecia universalis 0.7827269636178278 0.6079004224460253 0.5432535193818606 1.0 1.0 2 P15924 1 |
| Peroneal muscle atrophy 0.7827269636178269 0.6079004224460219 0.5432535193818628 1.0 1.0 2 Q12768 1 |
| Second degree atrioventricular block 0.7827269636178246 0.6079004224460166 0.5432535193818664 1.0 1.0 2 P0DP25 1 |
| Sinus bradycardia 0.7827269636178246 0.6079004224460166 0.5432535193818664 1.0 1.0 2 P0DP25 1 |
| Aplasia hypoplasia of the colon 0.7827269636178231 0.6079004224460118 0.5432535193818695 1.0 1.0 2 O75844 1 |
| Prominent umbilicus 0.7827269636178231 0.6079004224460118 0.5432535193818695 1.0 1.0 2 O75844 1 |
| Abnormal shoulder physiology 0.7827269636178231 0.6079004224460118 0.5432535193818695 1.0 1.0 2 O75844 1 |
| Abnormal sweat gland morphology 0.7827269636178231 0.6079004224460118 0.5432535193818695 1.0 1.0 2 O75844 1 |
| Stiff skin 0.7827269636178231 0.6079004224460118 0.5432535193818695 1.0 1.0 2 O75844 1 |
| Patchy alopecia 0.7827269636178231 0.6079004224460118 0.5432535193818695 1.0 1.0 2 O75844 1 |
| Epidermal hyperkeratosis 0.7827269636178231 0.6079004224460118 0.5432535193818695 1.0 1.0 2 O75844 1 |
| Severe failure to thrive 0.7827269636178231 0.6079004224460118 0.5432535193818695 1.0 1.0 2 O75844 1 |
| Protrusio acetabuli 0.6058073274613397 0.6068387738273713 0.5439579134693071 1.0 1.0 3 O75718 1 |
| Clonus 0.476783810497031 0.60597223264386 0.5445331920703453 1.0 1.0 31 Q9NZ09,O00400,Q3ZCQ8,Q9BQT8,P07602,P35637,Q99720,Q9Y619,Q12768,O75787 10 |
| Abnormal systemic arterial morphology 0.6203144975657032 0.6057781111819551 0.5446621066922872 1.0 1.0 130 P07602,P05067,P34913,P10253,P61916,P01130,P06865,P17900,Q14191,Q9BPU6,Q13510,P10619,O15118,Q6NUK1,P16278,P07686,P53701,Q9UBM7,P19022,P04062,Q7LGA3,P38571,P01889,P03886 24 |
| Reduced forced vital capacity 0.5400252618489192 0.605308674234233 0.5449739189393048 1.0 1.0 4 Q9BQT8 1 |
| Nail dystrophy 0.462187982517283 0.605239780494839 0.5450196874131841 1.0 1.0 26 O60828,P15924,P14923,P53634 4 |
| Recurrent fractures 0.4735204261145941 0.6038825632368349 0.545921722341147 1.0 1.0 30 O75718,P48735,Q13501,O75874,P51798,Q96L58 6 |
| Giant platelets 0.7813668820129314 0.6038114987559747 0.5459689736651523 1.0 1.0 2 Q14739 1 |
| Juvenile cataract 0.4853542234332295 0.6024940242970255 0.5468453397149364 1.0 1.0 7 Q9H2P0,Q9H1A4,Q8WVX9,P51608,Q8TC12,Q8NC56 6 |
| Atrophy degeneration involving the corticospinal tracts 0.4272248722265384 0.60107810467531 0.5477879659706666 1.0 1.0 15 Q9NZ09,O00400,P35637,Q13501,Q12768 5 |
| Acute phase response 0.4490819301105079 0.600030562026507 0.5484858676486031 1.0 1.0 22 P15260,P01889,P28070,P41440 4 |
| Restlessness 0.4912781377716948 0.5963620002170318 0.550933420280681 1.0 1.0 37 Q9UHD9,P10644,P35637,Q9UQN3,Q13501,P05067,P42892,Q92804,O00592,P04062 10 |
| Postaxial hand polydactyly 0.4541756701941898 0.5939733950123272 0.5525299076137005 1.0 1.0 9 Q9UBM7 1 |
| Tricuspid valve prolapse 0.5995714596617988 0.5874357133757044 0.5569111142119962 1.0 1.0 3 P53701 1 |
| Abnormal right ventricle morphology 0.4811606874714691 0.5863640407199017 0.5576309037203451 1.0 1.0 7 P19022 1 |
| Wide anterior fontanel 0.4392742391202483 0.5824410383001747 0.5602696458697316 1.0 1.0 20 O75718,P98164,Q6NUK1 3 |
| Cone shaped epiphyses of the phalanges of the hand 0.5187423969096334 0.5817052446543255 0.5607652382467685 1.0 1.0 5 P10644 1 |
| Abnormal epiphysis morphology of the phalanges of the hand 0.5187423969096334 0.5817052446543255 0.5607652382467685 1.0 1.0 5 P10644 1 |
| Hyporeflexia of upper limbs 0.7738864331859976 0.5815241649666271 0.560887236656777 1.0 1.0 2 O75787 1 |
| Thin ribs 0.4324183136012133 0.5775774330979322 0.5635494464132171 1.0 1.0 12 O75844,O95831,Q32P28,Q9Y619,Q9Y2D4 5 |
| Plantar hyperkeratosis 0.4734774885254652 0.5761439406200644 0.5645178931658519 1.0 1.0 32 Q02487,Q14126,P14923,P53634 4 |
| Abnormal pleura morphology 0.4379505811198438 0.5760513496435324 0.5645804738136682 1.0 1.0 20 Q8NCH0,Q6NUK1,Q96L58,P01889,Q14739 5 |
| Cutaneous photosensitivity 0.440620183281369 0.5739611802735168 0.5659940708197966 1.0 1.0 21 Q14108 1 |
| Meningioma 0.5008514138382884 0.5726983584955326 0.5668489490969031 1.0 1.0 6 P02545,Q14191 2 |
| Alkalosis 0.5296970539668062 0.571056019957721 0.5679616696615761 1.0 1.0 4 P01889 1 |
| Hypopigmentation of the skin 0.5034935070534564 0.5679525007049395 0.5700672213874585 1.0 1.0 44 P53701,P07602,Q8IZA0,P53634 4 |
| Lower limb hyperreflexia 0.4321606921451056 0.5632465355651439 0.5732670187865097 1.0 1.0 19 O00400,Q9NQ11 2 |
| Abnormal odontoid tissue morphology 0.4818030606859242 0.5631706943846951 0.5733186562836847 1.0 1.0 36 P16278,P48651,P53701,Q9UBM7,Q9HC07 5 |
| Progeroid facial appearance 0.4520876152697851 0.5630363495808854 0.5734101321806468 1.0 1.0 8 Q9UNE7,O75844,Q14191 3 |
| Abnormal synaptic transmission at the neuromuscular junction 0.4564086000122273 0.5629336187966926 0.5734800866380354 1.0 1.0 27 Q9UHD9,P35637,Q9UQN3,P53007,Q13501,P11310,Q92804,P06753 8 |
| Abnormal circulating proline concentration 0.5261958554219717 0.5596107053034595 0.5757450012709748 1.0 1.0 4 O95298,O96000 2 |
| Fasting hyperinsulinemia 0.526165494631059 0.5595118383431356 0.5758124541556859 1.0 1.0 4 P02545,P00367 2 |
| Gangrene 0.4400904231186741 0.5582190747700844 0.5766947971040595 1.0 1.0 10 P01889,Q9NZ08,P10644,Q6UN15 4 |
| Decreased circulating aldosterone level 0.7650459027541716 0.5556403356609646 0.5784567515437427 1.0 1.0 2 Q13423 1 |
| Excessive salivation 0.4488245454916189 0.5549387110323466 0.5789365825395065 1.0 1.0 25 P15586,P01889,O75787 3 |
| Abnormality of the umbilical cord 0.4952911890105829 0.5529656693336672 0.5802869184470418 1.0 1.0 6 P02545,O75844,Q12768 3 |
| Episodic respiratory distress 0.5240019395042486 0.5524835756548429 0.5806170842085834 1.0 1.0 4 P03886 1 |
| Congenital malformation of the left heart 0.523951495597298 0.5523201154196891 0.5807290512436034 1.0 1.0 4 Q12768,Q9UQR1 2 |
| Abnormal lymphocyte morphology 0.4649866554362689 0.5486848587610479 0.5832217388429255 1.0 1.0 31 O00754,P04066 2 |
| Pancreatic cysts 0.5226267437904119 0.5480340210602153 0.5836685427898838 1.0 1.0 4 Q14697,Q9NQH7,Q9Y5S9 3 |
| Hepatic cysts 0.5226267437904066 0.5480340210601994 0.5836685427898947 1.0 1.0 4 P49815,Q9UGP8,Q14697 3 |
| Hemivertebrae 0.4373334493223363 0.5464640514839012 0.5847469919675701 1.0 1.0 10 Q12768,Q9Y619 2 |
| Poikilocytosis 0.4124517935100582 0.5456668420609455 0.5852949684117905 1.0 1.0 14 P27797,O14936,P11166,P41440,P11171 5 |
| Morphological abnormality of the pyramidal tract 0.4402677236781838 0.5428277605001709 0.5872483977330445 1.0 1.0 23 Q9NZ09,O00400,P35637,P11166,Q13501,Q9Y619,Q13148,Q12768 8 |
| Abnormality of salivation 0.4904038466178234 0.5409945687749314 0.5885113262615334 1.0 1.0 41 Q9UHD9,P35637,Q9UQN3,P15586,Q13501,Q9BVA1,Q92804,P01889,Q14739,O75787 10 |
| Spastic tetraplegia 0.4825590571977841 0.5409026954732542 0.5885746529214386 1.0 1.0 38 Q96KP1,P16278,P04066,O00139,Q9NQ11 5 |
| Hepatic fibrosis 0.4575991603186457 0.5406591453075652 0.5887425430190145 1.0 1.0 29 Q15904,Q13510,P04062 3 |
| Blindness 0.5584604624582761 0.5397268152407668 0.5893854443713589 1.0 1.0 73 P50897,P06865,P07602,P01889,O43505,P16278,P17900,O60828,P07686,P51798,Q9Y6M9,P53701,Q9NZ08,P03886 14 |
| Craniofacial dysostosis 0.5063656247386316 0.5396200418414273 0.5894590921342757 1.0 1.0 5 Q6NUK1 1 |
| Apneic episodes precipitated by illness fatigue stress 0.7589255355321385 0.538022591772405 0.5905614517827438 1.0 1.0 2 P53007 1 |
| Abnormal gallbladder morphology 0.4541356084778573 0.5379544195964873 0.5906085167690927 1.0 1.0 28 P07602,P04062 2 |
| Constitutional symptom 0.4911288943060028 0.5377529277225604 0.5907476336447206 1.0 1.0 224 P07602,Q07021,P06280,P42892,Q07954,P11310,P14923,Q92804,O00592,P01130,Q9NZ08,Q14108,P15260,P0DP25,Q99720,Q14126,O75874,O00754,Q9BPU6,P15924,Q02487,Q13510,Q14739,P48735,P28070,Q9UQN3,P07686,P06753,Q12768,Q9NQ11,Q10471,P19022,P04062,P50402,P10644,O75844,P11166,Q08426,Q13501,P51798,P11171,P01889 42 |
| Recurrent hand flapping 0.582292968754 0.5350607544382268 0.5926078467660061 1.0 1.0 3 P55795 1 |
| Mitochondrial respiratory chain defects 0.4674532293923108 0.5344090273593995 0.5930585746592438 1.0 1.0 7 P03886 1 |
| Aplasia hypoplasia of the hallux 0.4218981366349667 0.5293123852183454 0.5965887653337265 1.0 1.0 18 O96028,O75648,Q9BPU6,Q7LGA3 4 |
| Hand oligodactyly 0.7555253315198927 0.5283453215901904 0.5972596806568877 1.0 1.0 2 Q6KC79 1 |
| Abnormal metacarpal morphology 0.4455634082932728 0.5250920264861297 0.5995192187499669 1.0 1.0 26 P16278,O60828,Q9NX62,Q96L58,Q14739,Q8WVQ1,P10644,Q14807 8 |
| Aortic regurgitation 0.4303397152795538 0.524766949978537 0.599745209421713 1.0 1.0 21 Q9NZ08,O00754,P01889 3 |
| 11 pairs of ribs 0.4374007950901482 0.5241981460714141 0.6001407302359671 1.0 1.0 9 Q14739 1 |
| Hyperconvex fingernails 0.4861192504522554 0.5208628020201443 0.6024623499625406 1.0 1.0 6 P48651 1 |
| Azoospermia 0.4302665047775341 0.5165847857967543 0.6054460385189997 1.0 1.0 10 Q13423,P04062,P51809 3 |
| Bilateral cleft lip 0.7511050663039825 0.515885691084724 0.6059342484262782 1.0 1.0 2 O60716 1 |
| Cutis laxa 0.4546479188973275 0.5128099274066306 0.608084284765678 1.0 1.0 30 Q15904,Q8NCH0,Q6NUK1,Q9Y3D3,Q02809,P48651,Q96L58,O96000,O75787 9 |
| Abnormal midbrain morphology 0.4829163572392047 0.5097910003077981 0.6101978913874 1.0 1.0 6 P04062 1 |
| Pulmonary cyst 0.4972470707136032 0.5093099071718146 0.6105350146706181 1.0 1.0 5 P15924 1 |
| Frequent falls 0.4676237254782302 0.5079093026378968 0.611516950494742 1.0 1.0 35 Q13510,P07602 2 |
| Hypopigmentation of the fundus 0.5096971759101986 0.5069023534034722 0.6122233343242311 1.0 1.0 4 P49815,P38435,Q9Y619 3 |
| Abnormality of fundus pigmentation 0.5096971759101986 0.5069023534034722 0.6122233343242311 1.0 1.0 4 P49815,P38435,Q9Y619 3 |
| Infantile spasms 0.4560387979820026 0.5058546467079795 0.6129586927067816 1.0 1.0 31 Q13510,P03886,P19022 3 |
| Vestibular dysfunction 0.4497580801801062 0.5032597020770438 0.6147816948049871 1.0 1.0 29 P01889,P0DP25,P41440,P06280,P14923,Q9NZ08 6 |
| Portal vein thrombosis 0.7460047602856235 0.5016827640309848 0.6158906906049575 1.0 1.0 2 Q9NWH9 1 |
| Splanchnic vein thrombosis 0.7460047602856235 0.5016827640309848 0.6158906906049575 1.0 1.0 2 Q9NWH9 1 |
| Epigastric pain 0.7460047602856235 0.5016827640309848 0.6158906906049575 1.0 1.0 2 Q9NWH9 1 |
| Thickened nuchal skin fold 0.420894518421424 0.5001709613779717 0.6169547034506604 1.0 1.0 11 Q13501 1 |
| Biliary cirrhosis 0.4578234019833165 0.4986862824895467 0.618000409828106 1.0 1.0 7 Q14739 1 |
| Wide intermamillary distance 0.4206741386300686 0.4938315167597205 0.6214251729459181 1.0 1.0 20 Q96EK5,Q9UBM7 2 |
| Infantile muscular hypotonia 0.532893990088425 0.4936096114418405 0.6215819115448775 1.0 1.0 64 P07602,P16278,P17900,P10253,O00754,Q13510 6 |
| Aplasia hypoplasia of the radius 0.4014138662583175 0.4935266552232892 0.6216405105006775 1.0 1.0 14 P10644,Q9NPD8,Q9UBM7 3 |
| Morphological abnormality of the corticospinal tract 0.4108873814100038 0.4924216060635874 0.6224213284033613 1.0 1.0 17 Q9NZ09,O00400,P35637,Q13501,Q12768 5 |
| Wormian bones 0.4069133758588157 0.4888595211736397 0.624941155234326 1.0 1.0 16 P02545,O75844,O75718,O95831,Q32P28,Q9Y487,Q8NC56 7 |
| Abnormality of the spleen 0.5938213607507727 0.4855386995108062 0.6272942680439377 1.0 1.0 112 P07602,P15586,P10253,P61916,Q14108,P15260,P04066,O00754,Q13510,P10619,Q14739,P54802,Q15904,O15118,P16278,Q96KP1,P07686,P04062,Q15392,P11166,P51798,P38571,P01889 23 |
| Oligohydramnios 0.4361506017080625 0.4806084404561087 0.6307948154820442 1.0 1.0 26 Q6NUK1,Q7LGA3,P15924,P14923,Q96L58 5 |
| Osteomyelitis 0.4014217409392948 0.4783574050075377 0.6323958449789402 1.0 1.0 15 P15260,P39210 2 |
| Decreased facial expression 0.4406368021576701 0.473985826483855 0.6355100144365609 1.0 1.0 28 O00592,Q9NQ11 2 |
| Abnormality on pulmonary function testing 0.4163095373052509 0.4734467586149562 0.6358944770516792 1.0 1.0 20 P16278,Q9BQT8,P01889 3 |
| Urinary incontinence 0.4859855591438218 0.4709434871181459 0.6376810921132943 1.0 1.0 45 Q9NZ09,Q3ZCQ8,P35637,P07602,P11166,Q9UQN3,Q99720,Q13501,Q10471,P07686,Q12768,Q9NQ11 12 |
| Neurodegeneration 0.4428730792830459 0.4708183763765327 0.6377704405279983 1.0 1.0 29 Q9UHD9,P35637,Q9UQN3,Q13501,P17900,Q13148,Q92804 7 |
| Abnormal social behavior 0.5320698099312052 0.4701368259085801 0.6382572653492 1.0 1.0 66 P07602,Q9NPL8,P11166,Q9Y3C6,P53007,P05067,Q9GZY8,Q5KU26,Q9Y6M9,O00592,Q10471,P03886,O96000,O60508 14 |
| Hypoglycemic coma 0.4285734208249971 0.4695910416362893 0.6386472262078025 1.0 1.0 8 Q13423 1 |
| Early onset of sexual maturation 0.4676170681020719 0.4693336851292442 0.6388311411721452 1.0 1.0 38 P48735,Q7LGA3,O96028,Q9Y296,O75874,Q9BPU6,Q9UBM7,O75648 8 |
| Cognitive impairment 0.5902532176150115 0.4673530490528271 0.6402473080059807 1.0 1.0 158 P07602,P05067,P06280,P61916,O00592,O75503,P50897,P06865,Q14108,Q99720,P17900,Q13510,P13473,P54802,O15118,P16278,Q9BQE5,P07686,Q9NQ11,P04062,Q13501,P01889 22 |
| Respiratory failure 0.5275246327391786 0.4668981072138073 0.6405727795619549 1.0 1.0 64 Q9UHD9,P35637,P07602,Q9UQN3,Q13501,Q9Y619,Q13148,P10253,P53701,P14923,Q8NBU5,P61916,P15924,Q9BQP7,Q92804,P06753,Q13510 17 |
| Abnormal iliac wing morphology 0.4180714429174568 0.4659580448260844 0.6412455319144765 1.0 1.0 10 P16278 1 |
| Chorioretinal atrophy 0.4951958799708419 0.4623922396400972 0.643800063405465 1.0 1.0 4 Q9Y619 1 |
| Chorioretinal coloboma 0.4806521484337899 0.4558281954174109 0.6485135271732929 1.0 1.0 5 Q12768 1 |
| Abnormal spermatogenesis 0.4100412532495641 0.454121129624611 0.6497416459703396 1.0 1.0 11 Q13423,P04062,P51809 3 |
| Abnormality of the diaphragm 0.4274106279031641 0.4538170890606475 0.649960482671478 1.0 1.0 25 Q96ST3,P98164,P53701,Q9UBM7 4 |
| Abnormality of the helix 0.4472500920469803 0.4511216565097201 0.6519018699949766 1.0 1.0 32 P19022,P14923,Q7LGA3 3 |
| Abnormal glycosylation 0.4078173518929958 0.4487056227480215 0.6536440279798801 1.0 1.0 19 Q15904,Q8N511,O75340,P39656,Q10471,Q8TCJ2,O75787 7 |
| Abnormal rib cage morphology 0.5314302044992605 0.4480665779398039 0.6541051479096902 1.0 1.0 68 P54802,O75718,O75844,P15586,O96028,P16278,Q9Y619,P04066,P51798,P48651,O00754,Q9UBM7,Q96L58,Q9Y2D4,Q12768,Q14739,Q8WVQ1 17 |
| Myositis 0.4181522771447294 0.4467545727832507 0.6550522741391172 1.0 1.0 9 P01889,Q9NZ08 2 |
| Abnormality of facial adipose tissue 0.4897018362575493 0.4460116294298092 0.6555888454618124 1.0 1.0 4 O75844 1 |
| Paroxysmal involuntary eye movements 0.4067783545806589 0.4439355178638073 0.6570892045437353 1.0 1.0 19 P03886,Q9Y6M9,O96000,P11166 4 |
| Astrocytosis 0.4173846235330573 0.4437326627847804 0.6572358776177551 1.0 1.0 9 Q13501 1 |
| Abnormality of humoral immunity 0.5034101457653034 0.4414782730856531 0.6588667873382672 1.0 1.0 55 Q15904,Q14108,P15260,O00754,P02786 5 |
| Hiatus hernia 0.4211248680299855 0.4409214071515121 0.6592698953340677 1.0 1.0 8 Q8NCH0,Q8NBU5 2 |
| Disinhibition 0.4866611010738233 0.4391072333293782 0.6605838381570863 1.0 1.0 48 Q13501,P05067,Q9BPU6,O00592,P19022,P04062 6 |
| Abnormality of the forehead 0.3075792295357572 0.4371432976358234 0.6620074285272053 1.0 1.0 278 P35606,P15586,Q9Y3B2,Q9NX62,Q07954,Q5UCC4,P04066,O00754,P48651,Q9BPU6,Q96EK5,P98164,Q14739,Q15904,Q8NCH0,Q6NUK1,P16278,Q96KP1,Q9UBM7,Q96L58,Q12768,P19022,Q15392,P11166,Q7LGA3,P51798,P11171,P11233 28 |
| Prominent nasolabial fold 0.4604225854955224 0.4342761718720312 0.6640879049882928 1.0 1.0 6 Q8NCH0 1 |
| Abnormality of the nasolabial region 0.4604225854955224 0.4342761718720312 0.6640879049882928 1.0 1.0 6 Q8NCH0 1 |
| Widely patent fontanelles and sutures 0.4856675433688028 0.4341611615228846 0.6641714142745678 1.0 1.0 4 O75844 1 |
| Ectopia lentis 0.4601016946520789 0.4332294167651954 0.6648481100011345 1.0 1.0 6 Q96L58 1 |
| Microcornea 0.4227598824412333 0.432382557478317 0.665463393208434 1.0 1.0 25 Q8NCH0,O43505 2 |
| Patchy changes of bone mineral density 0.4833528995527342 0.4274317245762548 0.669064904517148 1.0 1.0 4 Q13501 1 |
| Dental crowding 0.4152478999828448 0.4257946895836509 0.6702574568359234 1.0 1.0 23 O75844,Q5UCC4,Q9UBM7,P06753,Q01105 5 |
| Abnormal cerebral vascular morphology 0.5188696499827737 0.4242707033752211 0.6713684024743638 1.0 1.0 64 Q14191,P05067,P10253,P06280,P04062,P01130,P03886,P51970 8 |
| Calvarial skull defect 0.4158972117031799 0.4211031262699536 0.6736797788149633 1.0 1.0 8 Q14739 1 |
| Abnormality of the musculature of the lower limbs 0.4195753654642903 0.4178286052713666 0.6760724348756346 1.0 1.0 25 P53007,O14979,O00592,Q12768,Q9NQ11,P50402 6 |
| Hyperlipidemia 0.4314185612973772 0.4177735984470006 0.6761126557862043 1.0 1.0 29 P01130,P06280 2 |
| Joint hemorrhage 0.7137028221693373 0.4163555232835523 0.6771498690757896 1.0 1.0 2 P49257 1 |
| Focal t2 hyperintense brainstem lesion 0.394172332625635 0.4155485639513661 0.677740371562487 1.0 1.0 17 P03886,Q9Y6M9,O96000 3 |
| Ambiguous genitalia 0.4003221113161522 0.4145437726661727 0.6784759168221957 1.0 1.0 19 Q15392,Q9UBM7 2 |
| Non midline cleft lip 0.4669238150559147 0.4133945727361486 0.6793175503084554 1.0 1.0 5 Q15427,O60716,Q96L58 3 |
| Atypical absence seizure 0.5380952380952255 0.4118066402675655 0.6804811539367233 1.0 1.0 3 P43034,Q96CW1 2 |
| Abnormal systemic blood pressure 0.5491363577427462 0.4103591916727019 0.6815424771135514 1.0 1.0 83 P07602,P01889,P07686,P06280,P42892,P38571,P01130,P03886,O43772,P04062 10 |
| Tetraparesis 0.4439364583022663 0.4097964103154118 0.681955299702808 1.0 1.0 34 P17900,P07602 2 |
| Limitation of movement at ankles 0.4764049515147164 0.4075450715489317 0.6836076978095624 1.0 1.0 4 O75844 1 |
| Prominent digit pad 0.3921690107534843 0.4065305449967592 0.6843528183872176 1.0 1.0 17 O75648,Q9BPU6,Q7LGA3 3 |
| Abnormal liver morphology 0.4801170897385396 0.3990762483296162 0.6898370227130508 1.0 1.0 223 P07602,Q8N511,P15586,P11717,P10253,P11310,P61916,Q9HC07,P01130,O43772,Q14108,P15260,P04066,O00754,P53634,Q13510,P10619,Q14739,P54802,Q15904,O15118,P16278,P07686,P04062,P38571,P03886 26 |
| Carcinoid tumor 0.5326530612244755 0.3978361920463477 0.6907509371571494 1.0 1.0 3 P02545,Q9UER7 2 |
| Limb undergrowth 0.467624179740767 0.3961892265472885 0.691965438420528 1.0 1.0 44 Q15392,P48735,O75874,Q9UBM7,Q9Y2D4,Q14739,P10644 7 |
| Myoclonic seizure 0.4770777794040092 0.3939155367521207 0.6936433992190294 1.0 1.0 48 O75503,P07602,P67870,P11166,Q9Y3C6,P16278,P07686,Q96JM3,Q13510,P03886,O60508,P04062 12 |
| Abnormal renal tubule morphology 0.4081716591286342 0.3937766212727037 0.6937459662931407 1.0 1.0 23 P06280 1 |
| Hypoplastic fingernail 0.3828061761331274 0.3936192885865367 0.6938621383324839 1.0 1.0 15 P48651,Q14739 2 |
| Abnormal waist to hip ratio 0.459843012561878 0.392206719530316 0.6949054796149947 1.0 1.0 5 Q9Y6M1 1 |
| Pancytopenia 0.4342217542125413 0.3911826222601023 0.6956622523907778 1.0 1.0 32 O00754,Q14108 2 |
| Hallux valgus 0.3788566993767255 0.3906194144266496 0.6960785729533678 1.0 1.0 14 P04062 1 |
| Neuronal loss in the cerebral cortex 0.4590829281452318 0.3899619312049474 0.6965646973118633 1.0 1.0 5 P35637,Q13501 2 |
| Abnormal thoracic spine morphology 0.4134092043149674 0.3899488595735051 0.6965743633680423 1.0 1.0 25 O75844,O95831,O00754,P06753,P04062,Q14807 6 |
| Abnormal hair whorl 0.3939575497022099 0.3860143594573904 0.699486034164511 1.0 1.0 19 O75648,Q14191,Q9BPU6,Q7LGA3 4 |
| Impacted tooth 0.5279472143448538 0.3859885729209127 0.6995051317630299 1.0 1.0 3 O75844 1 |
| Ecchymosis 0.3884237465207114 0.3855055526426463 0.6998628933754905 1.0 1.0 12 Q8NCH0,P04062,P27797,P10644 4 |
| Abnormally lax or hyperextensible skin 0.4572083338362665 0.3838198613301538 0.7011119662822485 1.0 1.0 41 Q15904,Q8NCH0,Q6NUK1,P48651,Q96L58,Q9Y2D4,O96000,P04062 8 |
| Focal segmental glomerulosclerosis 0.4028451260132847 0.3837453630875106 0.701167187079099 1.0 1.0 22 Q14108 1 |
| Large for gestational age 0.4567733151803964 0.383176833756768 0.7015886535949933 1.0 1.0 5 Q9UM00,Q12955,P42345,Q969N2 4 |
| Thick lower lip vermilion 0.4614062863962338 0.3792649993157104 0.7044910880128974 1.0 1.0 43 P15586,P06280 2 |
| Abnormality of the upper respiratory tract 0.5459325180330724 0.3790311041067791 0.7046647663954664 1.0 1.0 85 P54802,P07602,P15586,P16278,Q13501,Q14191,P04066,Q13277,O00754,Q9UBM7,Q13510,P01889,Q14739 13 |
| Abnormal facial shape 0.3235974919868938 0.3789697617545024 0.7047103185757946 1.0 1.0 272 Q32P28,P15586,O00584,Q96JM3,Q9NX62,P06280,Q96ST3,Q9Y2D4,Q8WVQ1,P67870,Q5UCC4,Q14191,P04066,O60828,O00754,Q9BPU6,Q13510,P10619,O75648,P54802,Q8NCH0,Q6NUK1,O96028,P16278,Q96KP1,P07686,P53701,Q96L58,P06753,Q10471,P04062,P10644,O75718,O75844,P11166,Q7LGA3,Q9Y296,Q14807,Q9Y2Q9 39 |
| Macular purpura 0.3784344885805564 0.3742858109602057 0.7081916874070948 1.0 1.0 15 Q8NCH0,P51798,P04062 3 |
| Chorioretinal degeneration 0.4534188868457584 0.3734199987358362 0.7088358773836956 1.0 1.0 5 Q9Y619 1 |
| Scleral staphyloma 0.4636454035366367 0.3723009031941915 0.7096688262292821 1.0 1.0 4 Q9UN37 1 |
| Hip pain 0.4529901022330014 0.3721812600371678 0.7097578978306935 1.0 1.0 5 P02545,O75844 2 |
| Fatigue 0.5320936970047864 0.3721026356972478 0.709816434018159 1.0 1.0 77 Q9UHD9,P07602,Q07021,Q13148,P06280,P11310,Q92804,O00592,Q9NZ08,Q14739,Q9UQN3,P06753,Q9NQ11,P10644,P04062,P35637,Q13501,Q13423,P01889 19 |
| Abnormal meningeal morphology 0.3889090831405709 0.3637215288163393 0.71606596525231 1.0 1.0 19 Q15904 1 |
| Abnormal vascular morphology 0.5118843082685219 0.3623223338147824 0.7171111704082089 1.0 1.0 207 P07602,P05067,P34913,P10253,P42892,P61916,P01130,Q9NZ08,P06865,P0DP25,P62899,P17900,Q14191,O60828,P48651,Q9BPU6,Q13510,P10619,O75648,O15118,Q6NUK1,P16278,P07686,P53701,Q9UBM7,Q96L58,P06753,Q12768,P19022,P04062,P10644,Q15392,O75844,O75718,Q7LGA3,P51798,P38571,P01889,P03886 39 |
| Hypolipoproteinemia 0.3997361370981326 0.361572581874595 0.7176714567912439 1.0 1.0 8 Q10471,P38571,Q9Y6B6 3 |
| Abnormal mitochondrial morphology 0.3775652596286544 0.3615316752934283 0.7177020304751318 1.0 1.0 13 Q9GZY8,P35637,Q9BQP7,Q13501 4 |
| Premature skin wrinkling 0.3880380386636539 0.3599068150990394 0.7189168203782463 1.0 1.0 19 O75844,P11166,Q96CW1,Q6NUK1,Q02809,Q9Y487 6 |
| Impaired smooth pursuit 0.3750562152563429 0.3595090893238843 0.7192142794069436 1.0 1.0 15 O00754 1 |
| Apraxia 0.4948541279261949 0.3587614479134814 0.71977355536865 1.0 1.0 59 P35637,O14773,P11166,Q9UQN3,Q7LGA3,Q9Y296,Q9BVA1,Q13501,P05067,Q9BPU6,Q9NQ11,O75648,P04062,O75787 14 |
| Abnormality of exocrine pancreas physiology 0.3714022947381022 0.3578904043356077 0.7204253319866138 1.0 1.0 14 Q15904 1 |
| Abnormal vertebral morphology 0.5557987190444083 0.3560052617268401 0.7218366247149297 1.0 1.0 96 P15586,Q9Y2D4,Q8WVQ1,Q14108,P04066,O75874,O00754,P10619,Q14739,P54802,Q8NCH0,P48735,Q6NUK1,O96028,P16278,Q96L58,Q9UBM7,Q12768,P04062,P10644,O75718,Q9Y619,P51798,Q14807,Q9Y2Q9 25 |
| Conical tooth 0.4351053688435515 0.3546750394400383 0.7228330524435571 1.0 1.0 6 Q9Y487,O60716 2 |
| Congestive heart failure 0.4939181273297425 0.3543511380281568 0.7230757480630876 1.0 1.0 59 P16278,Q14191,P10253,P06280,P14923,P03886 6 |
| Abnormal eyelid morphology 0.3180332484835745 0.3541532836833213 0.7232240117651998 1.0 1.0 311 P35606,Q00534,Q9Y3B2,P34913,Q96JM3,P04080,Q07954,P14923,Q96ST3,P01130,Q8WVQ1,Q14574,P62899,O60828,Q5KU26,O00754,Q9BPU6,P15924,Q02487,Q96EK5,P98164,O75648,Q8NCH0,Q6NUK1,O96028,Q96KP1,P53701,Q9UBM7,Q12768,Q10471,P19022,P04062,P10644,Q15392,O75844,Q7LGA3,Q9Y296,P11233,P01889 39 |
| Neoplasm of the nervous system 0.4581551149901089 0.3526901368685046 0.7243207544438475 1.0 1.0 44 O75874,P48735,Q07954 3 |
| Abnormality of the carpal bones 0.3749834306197703 0.3506986782624866 0.7258144172499148 1.0 1.0 13 Q9Y2D4,Q14807,Q8WVQ1,Q96L58 4 |
| Simple febrile seizure 0.5125240576450774 0.3487256978691261 0.7272952498352698 1.0 1.0 3 P11166 1 |
| Deviation of the thumb 0.3757348574261726 0.348313480618909 0.7276047709171753 1.0 1.0 16 Q9UBM7 1 |
| Pulmonary carcinoid tumor 0.6848010880652886 0.3474571781258236 0.7282478837662192 1.0 1.0 2 P02545 1 |
| Aplasia hypoplasia of the clavicles 0.3836389049647727 0.3470455733344577 0.7285570813576174 1.0 1.0 11 P02545,O75844,Q9Y619,P48651,Q8NC56 5 |
| Abnormality of macular pigmentation 0.5112244897959066 0.3456986587700116 0.7295691923370438 1.0 1.0 3 P55265,Q9UM00 2 |
| Absent toe 0.390941010440151 0.345069823025104 0.7300418794059644 1.0 1.0 21 O96028,O75648,Q9BPU6,Q7LGA3 4 |
| Inflammatory abnormality of the eye 0.4323136373135651 0.3446624078059636 0.7303481825205882 1.0 1.0 35 P01889,P04439,P04080,Q9NZ08,Q14739,P02786 6 |
| Raynaud phenomenon 0.4316508106539816 0.3443147917520751 0.7306095614058923 1.0 1.0 6 P55265,O75844,Q14739 3 |
| Impaired social interactions 0.4660997180723683 0.3432122514994055 0.7314387884877922 1.0 1.0 48 Q9NPL8,P11166,P53007,Q9GZY8,Q5KU26,Q9Y6M9,O00592,Q10471,P03886,O96000 10 |
| Recurrent acute respiratory tract infection 0.6827609656579416 0.3428807606622533 0.7316881661241192 1.0 1.0 2 Q03518 1 |
| Redundant neck skin 0.4128431379021756 0.3424431680145066 0.7320174066215892 1.0 1.0 7 Q9Y3D3,O96000 2 |
| Abnormal gastrointestinal motility 0.4115455322075547 0.3418712800951962 0.7324477639583273 1.0 1.0 28 P06280,Q9UBM7 2 |
| Incoordination 0.5056043118269282 0.3409693769538341 0.7331266354369494 1.0 1.0 66 O75503,O14773,P07602,O00754,Q13510,P04062 6 |
| Abnormal size of the clitoris 0.3772371401851077 0.3408213398859196 0.7332380843743129 1.0 1.0 17 P16435,P51809,Q9Y619,Q9NX14,P53701,Q9UBM7,O14974 7 |
| Abnormal tongue morphology 0.5013798544471681 0.34000218624642 0.7338548815225117 1.0 1.0 64 P67870,Q6NUK1,Q7LGA3,P16278,P04066,O60828,P07686,P10253,P48651,O00754,Q9UBM7,P01889 12 |
| Abnormality of the phalanges of the toes 0.3723952404390977 0.3399263011536631 0.7339120293321171 1.0 1.0 13 O75844,O14936,Q7LGA3,Q9NPD8,Q8WVQ1 5 |
| Thick cerebral cortex 0.4397549353301611 0.3349182232822052 0.7376867750195752 1.0 1.0 5 P43034,Q9Y487,Q9UJX6,P36543 4 |
| Ectopia pupillae 0.4395484549399931 0.3343522042252346 0.7381138014970974 1.0 1.0 5 O96028,P61586 2 |
| Rigidity 0.4783401281569152 0.3338284676480137 0.7385090004449717 1.0 1.0 54 P07602,P16278,O00592,Q9NQ11,P04062 5 |
| Upper extremity joint dislocation 0.3755483695320866 0.3335691805411179 0.7387046778011381 1.0 1.0 17 Q9Y619,Q96L58,Q9Y2D4,Q6DKJ4,Q8WVQ1,P10644,Q14807 7 |
| Abnormal nasolacrimal system morphology 0.3656683204674385 0.3332103401214752 0.7389755134168035 1.0 1.0 14 P48651,Q6NUK1 2 |
| Tonic seizure 0.3942879146129641 0.3326251156348574 0.7394172823807121 1.0 1.0 23 Q96JM3,P07602 2 |
| Urogenital sinus anomaly 0.5053233976450312 0.3321798812409992 0.7397534345024555 1.0 1.0 3 P51809 1 |
| Thoracic aortic aneurysm 0.4181140551847888 0.3321602901557898 0.7397682269210284 1.0 1.0 31 O75844,Q7LGA3,Q9BPU6,Q96L58,P01889,O75648,P06753 7 |
| Abnormal venous morphology 0.3874373042281396 0.3299349508429992 0.741449113877253 1.0 1.0 21 P48651,P04062 2 |
| Hydrocephalus 0.4992345228310343 0.3298603734885147 0.7415054665299832 1.0 1.0 64 Q15392,Q6NUK1,O43505,P11166,Q12768,O00754,P48651,P53701,Q9UBM7,Q96L58,O60508,P04062 12 |
| Abnormal brainstem mri signal intensity 0.3810205891289347 0.3295301303018941 0.7417550238119692 1.0 1.0 19 Q9NPL8,O95831,Q9Y6M9,P03886,O96000,Q86Y39 6 |
| Protruding tongue 0.4070126516678073 0.3237100340389095 0.7461575735065229 1.0 1.0 7 Q6NUK1 1 |
| Cough 0.3920828162735899 0.3231345357809726 0.7465933562606957 1.0 1.0 23 P01889,P04062,P41440 3 |
| Pointed chin 0.4129177376996629 0.3221862995289858 0.7473115629698657 1.0 1.0 30 Q96EK5,P11233,P19022,Q7LGA3 4 |
| Mixed hypo and hyperpigmentation of the skin 0.4440337921607187 0.3215805003261451 0.7477705182400749 1.0 1.0 4 P55265 1 |
| Postaxial polydactyly 0.3692164238919371 0.3204201724474415 0.7486498356072024 1.0 1.0 16 Q9UBM7 1 |
| Dystrophic toenail 0.4427503805340886 0.3184148307975415 0.7501702899074081 1.0 1.0 4 P02545,O75844 2 |
| Pectus carinatum 0.4178193045409575 0.3182939618410179 0.7502619640939621 1.0 1.0 32 P16278,Q9Y619,O00754,Q96L58,Q9Y2D4 5 |
| Abnormal circulating citrulline concentration 0.4221884332528812 0.3166073062619564 0.7515415911962724 1.0 1.0 6 P03886 1 |
| Relative macrocephaly 0.4113352915797217 0.3153336461046025 0.7525083412283609 1.0 1.0 30 Q15392,O75844,Q7LGA3,P48651,Q9BPU6,O75648 6 |
| Stomatitis 0.3659154072086839 0.313355411973558 0.7540106556288997 1.0 1.0 13 P01889,Q9NZ08 2 |
| Supraventricular tachycardia 0.4959183673469269 0.311414665374085 0.7554854064544183 1.0 1.0 3 P02545,Q8NFF5 2 |
| Neoplasm of the thyroid gland 0.3923386387875084 0.311052584257836 0.755760646531001 1.0 1.0 24 P42892 1 |
| Abnormal male reproductive system physiology 0.4216807753448538 0.310290271044442 0.7563402288879468 1.0 1.0 34 P07686,O00592 2 |
| Short lingual frenulum 0.4951383994771518 0.3097363560577359 0.7567614532970355 1.0 1.0 3 O75844 1 |
| Overtubulated long bones 0.4951383994771518 0.3097363560577359 0.7567614532970355 1.0 1.0 3 O75844 1 |
| Lagopthalmos 0.4951383994771518 0.3097363560577359 0.7567614532970355 1.0 1.0 3 O75844 1 |
| Petechiae 0.3733754699114 0.3076551614353208 0.7583447417997291 1.0 1.0 11 P27797,P51798,P10644,P04062 4 |
| Deviation of the hallux 0.3972583038371832 0.3060240475320133 0.7595863362904343 1.0 1.0 26 Q7LGA3,Q9BPU6,Q96L58,O75648,P04062 5 |
| Pneumonia 0.4553364934652344 0.3058425099512404 0.759724560040504 1.0 1.0 47 P15260,Q13510,P16278,O00754 4 |
| Abnormality of the lymphatic system 0.5713201818931709 0.3049888542439587 0.7603746411960766 1.0 1.0 135 P07602,P15586,P10253,P61916,Q14108,P15260,P04066,O75874,O00754,Q13510,P10619,P54802,Q15904,P48735,O15118,P16278,P07686,P04062,Q15392,P38571 20 |
| Laryngotracheomalacia 0.4369966595072703 0.3044631820576471 0.7607750385594176 1.0 1.0 4 Q14807 1 |
| Psychogenic non epileptic seizure 0.395887702399633 0.3002003485585225 0.7640243392175139 1.0 1.0 26 O00592,O75648,Q9BPU6,Q7LGA3 4 |
| Moderately reduced visual acuity 0.4904761904761884 0.2998460365264347 0.764294597919571 1.0 1.0 3 P63000,O00429 2 |
| Abnormality of lower limb epiphysis morphology 0.3607703183085279 0.2987307175897561 0.7651455174103794 1.0 1.0 15 Q8WVQ1,Q7LGA3,Q14807,Q96L58 4 |
| Generalized myoclonic seizure 0.4300396825133565 0.2982621019570253 0.7655031268613057 1.0 1.0 38 P07602,P11166,P16278,Q96JM3,Q13510,P03886,P04062 7 |
| Autoamputation 0.4258579920299423 0.297923485771118 0.7657615623899281 1.0 1.0 5 P39210 1 |
| Somatic mutation 0.4299280437746173 0.2977772885983566 0.7658731497105442 1.0 1.0 38 P11717,O75874 2 |
| Abnormal aortic valve morphology 0.4270037143811177 0.297014298571718 0.7664555927860293 1.0 1.0 37 P04062,P01889,P06280,Q6NUK1 4 |
| Abnormality of lower lip 0.4810059969034911 0.2944254914195825 0.768432790359078 1.0 1.0 59 Q6NUK1,P11166,P15586,Q7LGA3,P04066,Q96JM3,P06280,Q96EK5,P04062 9 |
| Thoracic hypoplasia 0.4024857697757217 0.2900755499066487 0.7717584403552455 1.0 1.0 29 P51798,P06753,Q14739,Q8WVQ1,P04062 5 |
| Emg impaired neuromuscular transmission 0.4226770204089932 0.2897783403042339 0.7719858191779798 1.0 1.0 5 P53007 1 |
| Increased serum serotonin 0.6575994559673607 0.2897209375890832 0.7720297371150127 1.0 1.0 2 Q9UER7 1 |
| Reduced subcutaneous adipose tissue 0.3720361291459082 0.2884800644546426 0.7729792884463216 1.0 1.0 10 O75844,Q8NC56,Q6NUK1 3 |
| Repetitive compulsive behavior 0.4846938775510188 0.2879198387831153 0.7734081004987614 1.0 1.0 3 P49815,P51608 2 |
| Abnormal urine protein level 0.4657355086460119 0.2871578434207406 0.7739914635967884 1.0 1.0 53 P98164,P06280,Q14108,P04062 4 |
| Open mouth 0.3927640631302991 0.2870253259967145 0.7740929284024947 1.0 1.0 26 Q96ST3,Q96JM3,P67870,P04062 4 |
| Central sleep apnea 0.4212488952833112 0.2861617298486017 0.7747542537554977 1.0 1.0 5 P53007,Q96A33 2 |
| Aplasia hypoplasia of the sternum 0.4289046112089986 0.2855195750138327 0.7752461095842458 1.0 1.0 4 Q9Y619 1 |
| Abnormal fingertip morphology 0.3862652695817992 0.2854452205997834 0.7753030668684562 1.0 1.0 24 O75844,Q7LGA3,Q9BPU6,P15924,O75648 5 |
| Abnormal uterus morphology 0.3921249900375509 0.2843467785361303 0.7761446408154491 1.0 1.0 26 P98164 1 |
| Hypoplastic aortic arch 0.4826530612244909 0.2838013973971687 0.7765625835732219 1.0 1.0 3 Q9UHX1,P62140 2 |
| Fractures of the long bones 0.427953103514892 0.2833450498754342 0.7769123467826797 1.0 1.0 4 Q13501 1 |
| Aplasia hypoplasia of the lungs 0.3970311208231969 0.279642702299643 0.7797516418871948 1.0 1.0 28 Q6NUK1,O96028,O96000,Q9UBM7,Q96L58,Q14739 6 |
| Abnormality of the tarsal bones 0.3878211001479191 0.2791176633511836 0.780154528208437 1.0 1.0 25 O75844,Q14191,Q14739,Q8WVQ1,O75787 5 |
| Chronic constipation 0.3846582168432296 0.2787575048480075 0.7804309283974169 1.0 1.0 24 P04062 1 |
| Spinal cord lesion 0.3757122355868274 0.2786374618493824 0.7805230604132936 1.0 1.0 8 Q12768,O00400 2 |
| Schwannoma 0.4799983246340816 0.2785154495358324 0.7806167070201755 1.0 1.0 3 P10644 1 |
| Abnormal platelet aggregation 0.4785714285714111 0.2757077933180764 0.7827725093559563 1.0 1.0 3 O00203,P27797 2 |
| Abnormal leukocyte physiology 0.4831689464595637 0.2746709704300383 0.7835690358636511 1.0 1.0 62 Q15904,Q14108,P15260,O00754,P02786 5 |
| Retinal hemorrhage 0.4065372829417758 0.2730587094365588 0.7848080860526572 1.0 1.0 6 P50570,P36543,P38606,Q9Y487,Q9Y3A5 5 |
| Intestinal hypoplasia 0.4230179624191014 0.2722480297429701 0.7854313136118931 1.0 1.0 4 O75844 1 |
| Abnormal heart valve physiology 0.5080641623127554 0.2720799512751969 0.7855605448014997 1.0 1.0 75 Q15904,Q6NUK1,P01889,P16278,O00754,P06280,P53701,P15924,Q96L58,P01130,P19022,P04062 12 |
| Torsion dystonia 0.4226346059768617 0.2713988414705345 0.7860842929903358 1.0 1.0 4 P11166 1 |
| Generalized amyotrophy 0.3918362667580747 0.2705201576456837 0.7867601112725637 1.0 1.0 27 P35637,Q13501,Q13148,P06753,Q9BQP7,P13473 6 |
| Aplasia hypoplasia involving forearm bones 0.3602832776845597 0.2698678714084067 0.787261905288164 1.0 1.0 17 Q9Y2D4,Q9UBM7 2 |
| Receptive language delay 0.353499261411557 0.2689536077655872 0.7879653832299387 1.0 1.0 15 O75648,Q9BPU6,Q7LGA3 3 |
| Muscle fiber atrophy 0.3658691068460028 0.2662875226473729 0.7900177817879488 1.0 1.0 19 P02545,P35637,P53007,Q99720,Q02809,Q9BTV4,P06753,P50402 8 |
| Impaired proprioception 0.4307326009064581 0.2662468512628908 0.7900491026470662 1.0 1.0 41 P54802,O00400,O14773,P41440,Q12768,Q9NQ11,Q8IV08 7 |
| Elevated urinary carboxylic acid 0.3881002046272797 0.2657902441987455 0.790400757059537 1.0 1.0 7 P11310 1 |
| Aplasia hypoplasia involving the carpal bones 0.4115976003904476 0.2623870629736208 0.7930230456350202 1.0 1.0 5 Q9Y2D4 1 |
| Carpal bone hypoplasia 0.4115976003904476 0.2623870629736208 0.7930230456350202 1.0 1.0 5 Q9Y2D4 1 |
| Abnormal peripheral myelination 0.3987813148559105 0.2621594955846903 0.7931984793744382 1.0 1.0 30 P03886,P07602 2 |
| Abnormal blood potassium concentration 0.3603813571930992 0.2598754741075898 0.7949598302826959 1.0 1.0 11 P0DP25,P11166,Q08426 3 |
| Progressive cerebellar ataxia 0.4179947185039182 0.2585449416170479 0.795986369173491 1.0 1.0 37 P35637,O14773,Q13501,Q9Y619,P41440,Q13148,Q9NQ11 7 |
| Abnormal conjugate eye movement 0.2988856524132729 0.2577288452804842 0.7966161826465794 1.0 1.0 280 P07602,Q9Y3B2,Q96JM3,P61916,Q96ST3,Q99720,P62899,O60828,Q5KU26,O00754,Q9Y6M9,Q9BPU6,Q14739,O96000,O75648,Q8NCH0,O15118,Q6NUK1,O96028,Q9UBM7,Q10471,Q9NQ11,P19022,P04062,P10644,Q15392,P35637,Q9NPL8,P11166,Q7LGA3,Q13501,Q9Y296,Q9BVA1,Q9Y619,P03886 35 |
| Oromotor apraxia 0.4157283005001804 0.2564204547078056 0.7976261951438715 1.0 1.0 4 Q9BVA1 1 |
| Synostosis of metacarpals metatarsals 0.4664903336082536 0.2528829681751815 0.800358651226255 1.0 1.0 3 O60828 1 |
| Abnormality of epiphysis morphology 0.4453167203080383 0.2508920071085762 0.8018976042179045 1.0 1.0 48 Q7LGA3,O96028,P16278,Q9Y619,P51798,Q9UBM7,Q96L58,Q9HC07,Q9Y2D4,Q14739,Q8WVQ1,P10644,Q14807 13 |
| Progressive external ophthalmoplegia 0.3537529682280282 0.2495737679675734 0.8029169868612551 1.0 1.0 12 P03886,Q07021 2 |
| Aplasia hypoplasia of the skin 0.4596038537326525 0.2495345538595359 0.8029473159291358 1.0 1.0 54 Q15392,Q8NCH0,O75844,O96028,Q14191,P48651,P53701,Q07954,P15924,P53634,Q96L58,P10644 12 |
| Hirsutism 0.4545328810513578 0.2481973373421965 0.8039817264047842 1.0 1.0 52 P54802,P15586,Q5UCC4,P16278,P53634 5 |
| Bruising susceptibility 0.3860372069275416 0.246718334419248 0.8051262163001986 1.0 1.0 27 Q8NCH0,Q14108,P04062,Q96L58 4 |
| Abnormal caudate nucleus morphology 0.3559742191635097 0.2442434372783442 0.8070422874449763 1.0 1.0 11 Q9NQ11,Q9BVA1 2 |
| Abnormal acetabulum morphology 0.3535591188949921 0.2429517935813887 0.8080427418219955 1.0 1.0 17 P16278,Q8WVQ1,Q96L58 3 |
| Status epilepticus 0.4354526744899186 0.2414376480770308 0.8092159366766172 1.0 1.0 45 Q15392,P07602,P11166,Q96JM3,P53701,P42892,Q13510,P51970 8 |
| Dermatological manifestations of systemic disorders 0.4859783359777848 0.2402353362379814 0.8101478212862125 1.0 1.0 67 Q15904,O15118,P11166,O43772,P04066,P11171,P38571,P39210,P61916,Q14739,O75648,P10644,O75787 13 |
| Respiratory distress 0.4524184784245541 0.239018554122619 0.8110911955550217 1.0 1.0 52 P07602,P10253,P53701,P04062,Q13510,P03886,P51970 7 |
| Elbow flexion contracture 0.3807418941703559 0.2376507945633801 0.8121519505439523 1.0 1.0 26 Q7LGA3,Q6KC79,Q02809,Q9BTV4,P48651,P06753,Q9Y2D4,Q96L58,P50402,Q14807 10 |
| Punctate cataract 0.4578106492713431 0.2375397975541659 0.8122380485404299 1.0 1.0 3 Q9H6K4 1 |
| Acanthosis nigricans 0.3628105601400497 0.2372542113474853 0.812459582060161 1.0 1.0 8 P14923 1 |
| Abnormal thyroid morphology 0.4211639928725756 0.2372285382513766 0.8124794978029106 1.0 1.0 40 O75874,P42892,P48735 3 |
| Abnormality of the plantar skin of foot 0.4181908843803401 0.2362370599131334 0.8132487235608938 1.0 1.0 39 Q02487,Q14126,P14923,P53634 4 |
| Absent fingernail 0.3531496256826684 0.234385523971134 0.8146856958799709 1.0 1.0 11 P14923 1 |
| Calcific stippling 0.4554296968903907 0.2334862999783797 0.8153838066393051 1.0 1.0 3 O15228 1 |
| Aplasia hypoplasia involving the metacarpal bones 0.3638498762557389 0.2326111544307031 0.8160633649032787 1.0 1.0 21 Q9NX62,Q96L58,Q14739,Q8WVQ1,P10644 5 |
| Abnormality of the clitoris 0.360528800383789 0.232122795180585 0.8164426403584542 1.0 1.0 20 P16435,P51809,Q9Y619,Q9NX14,P53701,Q9NP72,Q9UBM7,O14974 8 |
| Bone fracture 0.3763007918570931 0.2320326544773717 0.8165126512224838 1.0 1.0 7 Q13501 1 |
| External ophthalmoplegia 0.350597657769132 0.2313368910921187 0.8170530889134711 1.0 1.0 17 P00403,Q07021,P03886,Q9GZY8,Q9BQP7 5 |
| Abnormal oral physiology 0.4505263922413393 0.2308557311311898 0.8174268832185301 1.0 1.0 52 Q9UHD9,P10644,P35637,Q9UQN3,P15586,Q13501,Q9BVA1,Q92804,P01889,Q14739,P06753,O75787 12 |
| Sparse hair 0.4952651337337245 0.2293370008353634 0.81860699721572 1.0 1.0 73 Q96L58,Q6NUK1,Q14574,Q14191,P04080,P48651,P53634,P14923,P15924,Q96EK5,Q02487,Q8WVQ1 12 |
| Weakness of muscles of respiration 0.3962205030551011 0.2275997125995311 0.8199574434010859 1.0 1.0 32 P53007,P10253,P06753,Q13510,Q9BQP7,P50402 6 |
| Simplified gyral pattern 0.3900731393005661 0.2266133852158911 0.8207243831531836 1.0 1.0 30 Q5KU26,P35606,Q00534,O60508 4 |
| Aplasia hypoplasia of metatarsal bones 0.3736374256246937 0.2246819334690903 0.8222267202908489 1.0 1.0 7 Q8WVQ1 1 |
| Prominent antihelix 0.6205372322339405 0.2229397361010208 0.8235824096187425 1.0 1.0 2 O14656 1 |
| Flared nostrils 0.3934110411228121 0.2208572482464106 0.8252035863584017 1.0 1.0 5 Q96ST3,O75179 2 |
| Abnormality of the anterior fontanelle 0.38817643248665 0.2190273942115757 0.8266287083291171 1.0 1.0 30 O75718,Q6NUK1,Q9Y619,Q9BPU6,P98164 5 |
| Sensorimotor neuropathy 0.3998385219232685 0.2187505257337285 0.8268443881592487 1.0 1.0 34 Q5KU26,P03886,P07602,P41440 4 |
| Paralysis 0.4427423815177763 0.2185585476499412 0.8269939462615159 1.0 1.0 50 Q9UHD9,P35637,P11166,Q9UQN3,P04792,Q13501,P17900,P10253,P51798,Q92804,P50402,P04062 12 |
| Abnormal prolactin level 0.3966759102115044 0.2183073750241876 0.8271896285995848 1.0 1.0 4 P10644 1 |
| Widely spaced teeth 0.3845966186328883 0.2167003491508042 0.8284418758867438 1.0 1.0 29 O00754 1 |
| Neoplasm of the skin 0.4075506168405133 0.2153832973645047 0.8294684911996342 1.0 1.0 37 Q07954,P53634 2 |
| Arterial rupture 0.4442176870748129 0.2152998730899651 0.8295335285663035 1.0 1.0 3 O60568,Q02809 2 |
| Abnormal mitochondria in muscle tissue 0.3590324860162863 0.2138166525730989 0.8306900383754532 1.0 1.0 21 P00403,Q9NPL8,Q9Y6M9,P03886,O96000,Q86Y39 6 |
| Abnormality of upper limb epiphysis morphology 0.3433231730233073 0.212218111617962 0.8319368775061817 1.0 1.0 12 O96028,P10644,Q9Y2Q9 3 |
| Autosomal dominant germline de novo mutation 0.4421768707482976 0.2121496070418763 0.83199031957275 1.0 1.0 3 P24928,Q9HCK8 2 |
| Lipodystrophy 0.3981131335919612 0.2118197203798611 0.8322476829591923 1.0 1.0 34 P55265,O75844,Q6NUK1,P28070,P09493,Q14191,P04066,Q9BTV4,Q14126,Q9UN37,P39656,P15924,Q9Y487,P50402 14 |
| Cavum septum pellucidum 0.3521112191283678 0.211615434837979 0.8324070667718713 1.0 1.0 9 O96028 1 |
| Shawl scrotum 0.3929509902420919 0.2114160079491965 0.8325626665043522 1.0 1.0 4 Q9Y619 1 |
| Tapered finger 0.3920236569066001 0.2107778560294219 0.8330606186839766 1.0 1.0 32 Q96EK5,Q8NCH0,P42892,Q9BPU6 4 |
| Genu varum 0.3514546052348306 0.209579629462018 0.8339957798835511 1.0 1.0 9 Q9Y619,Q8WVQ1 2 |
| Adrenal hyperplasia 0.3919177226006383 0.2095371752809433 0.8340289177518989 1.0 1.0 4 P10644 1 |
| Abnormal urine ph 0.4196994019072051 0.2088044974517288 0.8346008602670028 1.0 1.0 42 P48735,P03886,P11310,O43772 4 |
| Abnormal subcutaneous fat tissue distribution 0.4394557823129161 0.2080258144678341 0.8352088112112919 1.0 1.0 3 Q9Y487,P36543 2 |
| Abnormal cutaneous elastic fiber morphology 0.4394557823129158 0.2080258144678335 0.8352088112112923 1.0 1.0 3 Q9Y487,P36543 2 |
| Prominent veins on trunk 0.4394557823129158 0.2080258144678335 0.8352088112112923 1.0 1.0 3 Q9Y487,P36543 2 |
| Abnormal circulating apolipoprotein concentration 0.4394557823129158 0.2080258144678335 0.8352088112112923 1.0 1.0 3 Q9Y487,P36543 2 |
| Impairment of activities of daily living 0.4539693823048806 0.2048217500081089 0.8377113932050624 1.0 1.0 56 Q9NZ09,Q3ZCQ8,P35637,P07602,P11166,Q9UQN3,Q99720,Q13501,Q10471,P07686,O15269,Q9BPU6,Q12768,Q9NQ11 14 |
| Aplasia hypoplasia involving the nose 0.3785247946266345 0.2047145003960535 0.8377951906565304 1.0 1.0 28 O75844,P63241,Q5KU26,Q96ST3,P10644 5 |
| Delayed menarche 0.3791893459340293 0.2044275374412807 0.8380194127665477 1.0 1.0 6 Q9UNE7,O75844 2 |
| Fulminant hepatic failure 0.4360544217687075 0.2029939248716221 0.8391397806126202 1.0 1.0 3 Q16836,Q96RP9 2 |
| Underdeveloped nasal alae 0.3623819487956302 0.2022445303400165 0.8397255621626287 1.0 1.0 23 Q96ST3,Q5KU26,P63241,Q8TC12 4 |
| Contractures involving the joints of the feet 0.3525296650863635 0.2012385511238728 0.8405120485958784 1.0 1.0 20 Q8IZA0,P14923 2 |
| Abnormality of the tongue 0.5049069456375552 0.2006197892534271 0.8409958830757971 1.0 1.0 82 Q9BQT8,Q7LGA3,P16278,P04066,P07686,P10253,O00754,P48651,Q9UBM7,Q13510,P01889,Q9NQ11 12 |
| Genital neoplasm 0.3919634893512598 0.1989416767306368 0.8423083677354657 1.0 1.0 33 O75874,P48735 2 |
| Aplasia hypoplasia of the nipples 0.3316103642853495 0.1970745058097839 0.843769233595056 1.0 1.0 14 Q12768,Q6NUK1 2 |
| Neuroendocrine neoplasm 0.3443573133310538 0.1953359190570139 0.8451299792915357 1.0 1.0 10 P49815,P02545,Q9UER7,P36957,P40926,Q02978,P21912,P31040,P10644 9 |
| Bilateral polymicrogyria 0.3749829165465566 0.1947713838591605 0.8455719256019365 1.0 1.0 6 Q96JM3,P67870 2 |
| Abnormality of the calcaneus 0.3486077916274144 0.1945599458958674 0.8457374623019729 1.0 1.0 8 Q14739 1 |
| Leukopenia 0.4239689764135724 0.1936370486010602 0.8464600866079377 1.0 1.0 45 Q15904,Q14108,P04062 3 |
| Aplasia cutis congenita 0.3437558579322701 0.1934481780160309 0.8466079873400225 1.0 1.0 10 P15924 1 |
| Jaundice 0.4416753459410562 0.19333598353419 0.8466958471265471 1.0 1.0 52 Q15904,O15118,P11166,P11171,P38571,P39210,P61916,Q14739,O75648,P10644 10 |
| Osteolytic defects of the distal phalanges of the hand 0.382618304240789 0.1932705470924063 0.8467470914519524 1.0 1.0 4 O75844 1 |
| Loss of subcutaneous adipose tissue in limbs 0.382618304240789 0.1932705470924063 0.8467470914519524 1.0 1.0 4 O75844 1 |
| Eruption failure 0.3742234402486023 0.1930544942515284 0.8469162904926038 1.0 1.0 6 O75844,Q8NC56 2 |
| Brittle hair 0.3336723677971446 0.1922746943878483 0.8475270395102763 1.0 1.0 15 O60828,O75844,Q6NUK1,Q9Y487 4 |
| Insulin resistance 0.3302754935327069 0.192151672855365 0.8476233998876144 1.0 1.0 14 O75844,P17096,Q9Y6M1,Q14191,Q8NC56 5 |
| Soft tissue sarcoma 0.371548141636554 0.1895855484527228 0.8496339124905279 1.0 1.0 27 Q07954 1 |
| Decreased circulating antibody level 0.4120957297072146 0.1890050056064129 0.8500888935955189 1.0 1.0 41 O00754,P02786 2 |
| Convex nasal ridge 0.3491888746855417 0.1886771419223872 0.8503458678986251 1.0 1.0 20 O75844,Q6NUK1,O96028,Q14191,Q96J02,Q12797,Q8NC56,Q5SRE5 8 |
| Aniridia 0.3442399454669352 0.1876729318899734 0.8511330504330819 1.0 1.0 9 P36957,Q12948,Q02978,P40926,Q13263,Q15645,P21912,P31040 8 |
| Hamartoma of the eye 0.3442399454669319 0.1876729318899635 0.8511330504330896 1.0 1.0 9 P49815,P36957,P40926,Q02978,P52701,P21912,P31040,Q15437 8 |
| Carpal synostosis 0.3586859932909085 0.1853458936743068 0.8529577436196467 1.0 1.0 7 Q6DKJ4,Q96L58 2 |
| Synostosis of carpals tarsals 0.3586859932909085 0.1853458936743068 0.8529577436196467 1.0 1.0 7 Q6DKJ4,Q96L58 2 |
| Increased total bilirubin 0.3770139249626633 0.1840271843591604 0.8539921290727115 1.0 1.0 4 P14314 1 |
| Facial hypertrichosis 0.4442541495470731 0.1838314046513975 0.854145718615912 1.0 1.0 54 P54802,P15586,Q5UCC4,Q96EK5,P19022 5 |
| Macroorchidism 0.3756379720993504 0.1818221983861377 0.8557222630994861 1.0 1.0 4 P51608,Q06787,P38159 3 |
| Pheochromocytoma 0.3441226575809077 0.1817399511058152 0.8557868115937672 1.0 1.0 8 P49815,P36957,P40926,Q02978,P21912,P31040,P10644 7 |
| Flushing 0.3441226575809044 0.1817399511058056 0.8557868115937748 1.0 1.0 8 P36957,P40926,Q02978,Q9UJX6,P21912,P31040,P05091 7 |
| Abnormality of the lymph nodes 0.3928219294747789 0.1795597819359826 0.8574981807790265 1.0 1.0 35 P28070,P01889,P15260,P51798,Q13510,Q9NZ08 6 |
| Breast aplasia 0.4172489494008141 0.1776160582243326 0.8590245124328622 1.0 1.0 3 Q9Y619 1 |
| Cranial nerve compression 0.3378793044664109 0.1753312786304961 0.8608193356317542 1.0 1.0 10 P36957,P22626,P40926,P07954,Q02978,P09651,P21912,P51798,P31040 9 |
| Congenital nystagmus 0.3322365578277765 0.1748227888264997 0.861218881198121 1.0 1.0 16 O75648,Q9BPU6,Q7LGA3 3 |
| Abnormal hair laboratory examination 0.3415217614138636 0.1744568528107166 0.8615064371930639 1.0 1.0 8 Q14191,Q9Y276 2 |
| Abnormal eyelash morphology 0.4804021950513072 0.1708795283502153 0.8643184939051141 1.0 1.0 72 Q6NUK1,Q14574,Q5KU26,P04080,P53701,Q07954,P14923,P15924,Q02487,Q9UBM7 10 |
| Rieger anomaly 0.3675421512441122 0.1693614569019049 0.8655123384485541 1.0 1.0 4 O96028 1 |
| Abnormality of the scrotum 0.4012984504156103 0.168243743342476 0.8663915291709818 1.0 1.0 39 Q6NUK1,Q7LGA3,Q9Y296,Q9BPU6,Q9UBM7,Q96EK5,O75648 7 |
| Abnormal platelet volume 0.3511688454930483 0.166850083738397 0.8674880098637245 1.0 1.0 7 Q14739,P12814 2 |
| Upper limb asymmetry 0.5793947636858303 0.1652632902303702 0.868736751623403 1.0 1.0 2 Q15555 1 |
| Fatigable weakness of skeletal muscles 0.3379335982298308 0.1645943488307187 0.8692632795298194 1.0 1.0 8 P11310 1 |
| Severe muscular hypotonia 0.358540510923636 0.1641681639032428 0.8695987625670287 1.0 1.0 25 P67870,O43505,P53007,Q9GZY8,Q96JM3,P06753,Q01105 7 |
| Hemorrhage of the eye 0.3360599863667313 0.1638902791488965 0.8698175197424216 1.0 1.0 9 P50570,P36543,P35222,Q9Y487,P38606,Q92947,O75533,Q9Y3A5 8 |
| Abnormal central sensory function 0.404759484550218 0.1630034392066953 0.8705157267945929 1.0 1.0 3 O75787 1 |
| Abnormal electrophysiology of sinoatrial node origin 0.3309920468708334 0.1617259954818023 0.8715216325870216 1.0 1.0 11 P0DP25 1 |
| Persistence of primary teeth 0.3602566009731478 0.1567524446959033 0.875439953043722 1.0 1.0 5 O75844,P61586 2 |
| Large placenta 0.39845674321972 0.1562881506065722 0.8758058960136788 1.0 1.0 3 O75844 1 |
| Short middle phalanx of finger 0.3976190476190492 0.1554282151060416 0.8764837420097911 1.0 1.0 3 Q9UHX1,Q8IWS0 2 |
| Increased blood pressure 0.4685983621195468 0.1543888315312026 0.8773031592279583 1.0 1.0 68 P01889,P06280,P42892,P38571,P01130,P03886,P04062 7 |
| Decreased circulating cortisol level 0.3454516593285335 0.1533767167182503 0.8781012049938475 1.0 1.0 7 Q13423,Q9NRG9,P16435 3 |
| Sarcoma 0.439208294301981 0.1531171703279488 0.8783058755792912 1.0 1.0 55 Q15392,P48735,Q13501,O75874,Q07954 5 |
| Bronchomalacia 0.3935374149659925 0.1513461487944248 0.8797026670479369 1.0 1.0 3 P63000,P16435 2 |
| Absent forearm bone 0.3935374149659909 0.1513461487944234 0.879702667047938 1.0 1.0 3 Q15427,Q9Y5S9 2 |
| Tibial torsion 0.5668140088405398 0.1510035170447598 0.8799729415135045 1.0 1.0 2 P26196 1 |
| Myoclonus 0.5124525089356499 0.1508911680574826 0.8800615675855605 1.0 1.0 94 O75503,P50897,O14773,P07602,Q14108,P05067,O00592,Q9NQ11,P04062,Q13510 10 |
| Severe lactic acidosis 0.3924234339244529 0.1502629189734385 0.8805571871507405 1.0 1.0 3 O75648 1 |
| Episodic hyperhidrosis 0.3440054495912848 0.1500510158785832 0.8807243659942356 1.0 1.0 7 P36957,P40926,Q02978,P21912,O95163,P31040 6 |
| Elevated calcitonin 0.3440054495912843 0.1500510158785823 0.8807243659942363 1.0 1.0 7 P36957,P40926,Q02978,P21912,P31040,P10644 6 |
| Hypertension associated with pheochromocytoma 0.3440054495912843 0.1500510158785823 0.8807243659942363 1.0 1.0 7 P36957,P40926,Q02978,P21912,P31040,P10644 6 |
| Paraganglioma 0.3440054495912832 0.1500510158785798 0.8807243659942383 1.0 1.0 7 Q9UER7,P36957,P40926,Q02978,P21912,P31040 6 |
| Retinal hamartoma 0.3440054495912825 0.1500510158785781 0.8807243659942396 1.0 1.0 7 P49815,P36957,P40926,Q02978,P21912,P31040 6 |
| Abnormal morphology of the radius 0.3244858383270304 0.1496350186981614 0.8810525782951204 1.0 1.0 12 Q32P28,P10644,Q96L58 3 |
| Megalencephaly 0.3914965986394584 0.149371674782734 0.8812603612108547 1.0 1.0 3 P49815,P42345 2 |
| Bowing of the legs 0.4046051923215889 0.1488346246567049 0.8816841283887547 1.0 1.0 42 O75718,Q7LGA3,Q08426,P16278,Q9Y619,Q9NX62,O00754,P51798,Q96L58,Q8WVQ1,Q14807 11 |
| Adducted thumb 0.3511212725796394 0.1487622488448931 0.881741240163741 1.0 1.0 24 Q8NCH0,P42892 2 |
| Abnormality of the metaphysis 0.4122953095480793 0.1471370352459858 0.8830238580898826 1.0 1.0 45 P48735,P16278,O75874,P48651,P51798,Q96L58,Q9HC07,Q9Y2D4,Q14739 9 |
| Foot acroosteolysis 0.3865492372993994 0.1447665221837811 0.8848952151551266 1.0 1.0 3 O75844 1 |
| Osteolysis involving bones of the feet 0.3865492372993994 0.1447665221837811 0.8848952151551266 1.0 1.0 3 O75844 1 |
| Aplasia hypoplasia of the vagina 0.3853741496598619 0.1437100114790468 0.8857294652507646 1.0 1.0 3 P30153,P51809 2 |
| Coma 0.3769707037162069 0.1418255828633116 0.8872177761225168 1.0 1.0 33 O43772,P05067 2 |
| Branchial cyst 0.555933356001368 0.1398874239774563 0.8887489377962958 1.0 1.0 2 Q9UHX1 1 |
| Dilation of virchow robin spaces 0.5559333560013657 0.1398874239774543 0.8887489377962974 1.0 1.0 2 P43034 1 |
| Cutaneous syndactyly of toes 0.5559333560013624 0.139887423977451 0.8887489377963 1.0 1.0 2 P51608 1 |
| 2 3 toe cutaneous syndactyly 0.5559333560013624 0.139887423977451 0.8887489377963 1.0 1.0 2 P51608 1 |
| Abnormal tricuspid valve morphology 0.3236858976490944 0.1397097819598285 0.8888892973273501 1.0 1.0 11 P53701 1 |
| Wrist flexion contracture 0.3450153113303918 0.1392458228037297 0.8892558998192044 1.0 1.0 4 P51608,O60231,O94905 3 |
| Bronchospasm 0.344675059544065 0.1388413695840441 0.8895755023587695 1.0 1.0 4 Q9UER7,P26639,P18074 3 |
| Abnormality of the gastric mucosa 0.3151438607547738 0.1388304575837861 0.889584125367519 1.0 1.0 14 P04062 1 |
| Poor fine motor coordination 0.3489823836488921 0.1384686802631758 0.8898700206723114 1.0 1.0 5 Q6PI48 1 |
| Hand polydactyly 0.3482097282102027 0.1384323958521769 0.8898986952969152 1.0 1.0 24 Q12768,Q14739,Q9UBM7 3 |
| Long palm 0.3755102040816339 0.1353917865244471 0.8923021177437906 1.0 1.0 3 P16435,P52788 2 |
| Abnormality of cardiovascular system electrophysiology 0.5293675168530134 0.134503254276498 0.8930046379332126 1.0 1.0 112 P07602,P01889,P51970,Q14126,P10253,P06280,P42892,Q07954,P11310,P14923,Q02487,P15924,P01130,P03886,O43772,P19022,P04062,P13473 18 |
| Diffuse cerebellar atrophy 0.3449097718760623 0.1331637589870542 0.8940638716770324 1.0 1.0 6 Q06787,Q8N766,P18074,Q99757,P26639 5 |
| Bird like facies 0.3449097718760505 0.1331637589870326 0.8940638716770495 1.0 1.0 6 P02545,O75844,Q92878,P18074,P26639 5 |
| Abnormality of the hypothenar eminence 0.3388907791765883 0.1321895047277742 0.8948344022861277 1.0 1.0 4 Q9NRG9,Q7Z392,Q96IJ6 3 |
| Bilateral microphthalmos 0.3447923757658291 0.1321293241963526 0.8948820018925845 1.0 1.0 5 Q9UHX1,P26639,Q13428,P18074 4 |
| Arachnoid hemangiomatosis 0.3438883214164049 0.1313050085941701 0.8955340298122019 1.0 1.0 6 P36957,P40926,Q02978,P21912,P31040 5 |
| Hemangioblastoma 0.3438883214164049 0.1313050085941701 0.8955340298122019 1.0 1.0 6 P36957,P40926,Q02978,P21912,P31040 5 |
| Poor head control 0.4650735154777817 0.1305971911023429 0.8960939648718664 1.0 1.0 69 P06865,P07602,Q9NPL8,P17900,Q5KU26,Q9Y6M9,P06753,P03886,O96000,P51970 10 |
| Bone cyst 0.5450527031622002 0.1298579050688791 0.8966788490951014 1.0 1.0 2 P21912 1 |
| Conjunctival hamartoma 0.5450527031622002 0.1298579050688791 0.8966788490951014 1.0 1.0 2 P21912 1 |
| Duplication involving bones of the feet 0.3191564222240184 0.129371383149063 0.897063790303217 1.0 1.0 16 Q14739,Q9UBM7 2 |
| Absence of pubertal development 0.3356065749787168 0.1285989153686586 0.8976750245927292 1.0 1.0 4 O75844 1 |
| Dilated fourth ventricle 0.3874302816949023 0.1264908555432623 0.8993433871265686 1.0 1.0 38 Q96KP1,Q9BPU6,Q9UBM7,O43505 4 |
| Abnormality of female external genitalia 0.3756488257044886 0.126165481503592 0.8996009347508809 1.0 1.0 34 Q15392,P51809,Q6NUK1,Q6KC79,Q9Y619,Q9NX14,P53701,Q9NP72,Q9UBM7,Q6DKJ4,P10644,O14974 12 |
| Erythrocyte inclusion bodies 0.3609417400951901 0.1248244633119898 0.9006625199368081 1.0 1.0 3 O14936 1 |
| Focal cortical dysplasia 0.3571428571428613 0.1223869735851035 0.9025925545287355 1.0 1.0 3 P49815,P42345 2 |
| Dysphagia 0.5362080456460918 0.122116770026445 0.9028065407187248 1.0 1.0 125 P48735,P07602,Q14108,O15118,P15586,Q99720,Q13501,P03886,P05067,Q8IZA0,O75874,Q9BPU6,P61916,Q13510,P01889,Q9NQ11,P04062 17 |
| Cone shaped epiphysis 0.3311733254022624 0.1220256752816726 0.902878684282246 1.0 1.0 7 P10644,Q9Y2Q9 2 |
| Abnormality of limb epiphysis morphology 0.3529698518306018 0.1217644263606117 0.903085587909536 1.0 1.0 27 Q7LGA3,Q9Y2Q9,O96028,O15228,Q96L58,Q8WVQ1,P10644,Q14807 8 |
| Fatty replacement of skeletal muscle 0.3373042886317263 0.1214103884950371 0.9033659889219332 1.0 1.0 5 P09651,Q8NFF5,P22626,P51114 4 |
| Poor eye contact 0.3915516152972723 0.1206734675032702 0.9039496752533792 1.0 1.0 40 Q9NPL8,P53007,Q5KU26,Q9Y6M9,Q10471,P03886,O96000 7 |
| Palmar pits 0.5334920095205745 0.1203399956834956 0.9042138223335758 1.0 1.0 2 Q9H488 1 |
| Abnormal parotid gland morphology 0.5334920095205713 0.1203399956834933 0.9042138223335776 1.0 1.0 2 Q13428 1 |
| Lactose intolerance 0.3530612244898004 0.11990734188099 0.9045565484615994 1.0 1.0 3 O95394,P42345 2 |
| Abnormality of fontanelles 0.3996714481859782 0.1197264478321107 0.9046998487140364 1.0 1.0 43 O75718,Q8NCH0,O75844,Q32P28,Q6NUK1,O15228,Q9Y619,P48651,Q9BPU6,Q9Y487,P98164 11 |
| Abnormality of the subungual region 0.5324719483169112 0.1195545012496977 0.9048360638592372 1.0 1.0 2 P16615 1 |
| Focal cortical dysplasia type ii 0.5324719483169034 0.1195545012496915 0.904836063859242 1.0 1.0 2 P42345 1 |
| Hemimegalencephaly 0.5324719483169034 0.1195545012496915 0.904836063859242 1.0 1.0 2 P42345 1 |
| Hypomelanotic macule 0.5324719483169023 0.1195545012496907 0.9048360638592428 1.0 1.0 2 Q9H488 1 |
| Renal angiomyolipoma 0.5324719483168998 0.1195545012496887 0.9048360638592444 1.0 1.0 2 Q03426 1 |
| Colpocephaly 0.3196444054313325 0.117774399589813 0.9062464145160608 1.0 1.0 8 Q9NX14,P53701,Q8N3U4,O14974 4 |
| Neonatal onset 0.3287859156605576 0.1166291272266545 0.9071539550460044 1.0 1.0 20 Q15904 1 |
| Tetraplegia tetraparesis 0.4042694732777446 0.1165014338770866 0.9072551497676148 1.0 1.0 45 P35637,P07602,Q9Y296,P17900,Q13501,Q13423,P48637,P51970 8 |
| Cervical ribs 0.3469387755102063 0.1164491142302583 0.907296612597456 1.0 1.0 3 Q9UHX1,Q9Y5S9 2 |
| Abnormal nipple morphology 0.4121659631421872 0.1160906763186118 0.9075806780713784 1.0 1.0 48 Q6NUK1,Q7LGA3,Q96KP1,Q9UBM7,Q96EK5,P19022 6 |
| Synostosis involving bones of the lower limbs 0.3448979591836743 0.1153638173259624 0.908156757027953 1.0 1.0 3 O75369,P16435 2 |
| Tarsal synostosis 0.3448979591836743 0.1153638173259624 0.908156757027953 1.0 1.0 3 O75369,P16435 2 |
| Squamous cell carcinoma of the skin 0.3445578231292576 0.1151861373657296 0.908297586317104 1.0 1.0 3 P02545,P18074 2 |
| Ankyloblepharon 0.3445578231292525 0.1151861373657271 0.908297586317106 1.0 1.0 3 P41227,P18074 2 |
| Thin clavicles 0.3427510782322518 0.1142574916380534 0.9090336785170744 1.0 1.0 3 O75844 1 |
| Adrenal hypoplasia 0.3272004138657823 0.1138959043509262 0.9093203122950728 1.0 1.0 7 Q12768 1 |
| Organic aciduria 0.3778235572216885 0.112734707104976 0.9102408843476232 1.0 1.0 36 P48735,O43772 2 |
| Muscle spasm 0.4385964851311542 0.112417194610943 0.9104926224169944 1.0 1.0 59 Q9UHD9,Q9NZ09,P35637,Q9UQN3,P04792,Q13501,P06280,P11310,Q92804,O00592,Q12768,P04062,P13473 13 |
| Purpura 0.3274619478907881 0.1122468193475785 0.9106277072322172 1.0 1.0 20 Q8NCH0,P51798,P04062 3 |
| Pyelonephritis 0.5222713362801847 0.1121654405747447 0.9106922306356742 1.0 1.0 2 Q14697 1 |
| Reduced sperm motility 0.5222713362801847 0.1121654405747447 0.9106922306356742 1.0 1.0 2 Q14697 1 |
| Ureteral duplication 0.3298624275939299 0.1115248816269056 0.9112001359858364 1.0 1.0 5 O75844 1 |
| Dilated cardiomyopathy 0.3943980273709612 0.1104831037489344 0.9120262490867156 1.0 1.0 42 P16278,P03886,Q14126,P53701,P15924,P14923,Q9BQP7,P13473 8 |
| Localized osteoporosis 0.5181910914654986 0.1094403095482817 0.9128532633441752 1.0 1.0 2 P57740 1 |
| Cerebellar cyst 0.37382427289076 0.1090247199794484 0.913182883493544 1.0 1.0 35 Q9BPU6,Q9UBM7,O43505 3 |
| Abnormality of circulating adrenocorticotropin level 0.3247520974839698 0.1090159932809973 0.9131898051356656 1.0 1.0 7 Q13423,P16435,P10644 3 |
| Membranoproliferative glomerulonephritis 0.5154709282557088 0.1076943023550345 0.9142381892894884 1.0 1.0 2 Q03252 1 |
| Molluscum contagiosum 0.5154709282556971 0.1076943023550273 0.9142381892894942 1.0 1.0 2 Q03426 1 |
| Unusual skin infection 0.5154709282556971 0.1076943023550273 0.9142381892894942 1.0 1.0 2 Q03426 1 |
| Fever 0.4826491072922094 0.1075686004659979 0.914337905626541 1.0 1.0 81 P07602,P15260,P03886,P10253,P06280,P38571,Q9HC07,Q13510,P01889,Q9NQ11 10 |
| Cutaneous syndactyly 0.3239452972008712 0.1074296893540595 0.914448102096107 1.0 1.0 7 Q9Y619 1 |
| Abnormal circulating tyrosine concentration 0.3265306122449012 0.1070026482584049 0.914786878812873 1.0 1.0 3 P16930,Q9NVS9 2 |
| Cns hypomyelination 0.3759758265222319 0.1061650616348056 0.915451391020348 1.0 1.0 36 P07686,O00400,Q99720 3 |
| Neoplasm of the skeletal system 0.3873607388040104 0.1054062744717208 0.916053437493574 1.0 1.0 40 P48735,P62899,Q13501,Q14191,O75874,Q92804 6 |
| Abnormal talus morphology 0.3184967073724463 0.1049605094365066 0.9164071444814494 1.0 1.0 18 P02545,O75844,P16435,Q9UPT5,Q14191,Q9UHX1,P18074,Q5SRE5,Q9NXE4 9 |
| Abnormal shape of the occiput 0.3375750836329801 0.1021502755357501 0.9186373955830632 1.0 1.0 24 O00754,Q96L58 2 |
| Rimmed vacuoles 0.3031212189290961 0.0999220509611141 0.9204062098261888 1.0 1.0 14 Q13501,O14979 2 |
| Abnormal calcium phosphate regulating hormone level 0.3117546848381568 0.0994187667228156 0.9208057828906646 1.0 1.0 8 P36957,P40926,P07954,Q02978,P21912,P31040,P10644 7 |
| Microretrognathia 0.3063448104023118 0.0991066824441714 0.9210535663889948 1.0 1.0 15 P53007,Q8NCH0,Q8WVQ1,Q96ST3 4 |
| Ragged red muscle fibers 0.323252729848992 0.0985639674846694 0.9214844804475508 1.0 1.0 20 P00403,O95831,P03886,Q9BQP7,Q9H2D1,O75648 6 |
| Impaired vibratory sensation 0.3616045801081776 0.0979950149777736 0.9219362517879568 1.0 1.0 32 O00165,Q9NZ09,O00400,O14773,Q9Y619,Q12768,Q9NQ11 7 |
| Accessory oral frenulum 0.4947296837810356 0.0961337012663417 0.9234143855114898 1.0 1.0 2 Q15029 1 |
| Complete atrioventricular canal defect 0.4947296837810266 0.0961337012663375 0.9234143855114932 1.0 1.0 2 Q9UHX1 1 |
| Posterior embryotoxon 0.3155997167555391 0.0957476449100361 0.9237209995320116 1.0 1.0 18 Q7LGA3 1 |
| Abnormal salivary gland morphology 0.3165418652144353 0.0956974822401219 0.923760840605029 1.0 1.0 5 Q13428,P52701,P16615,Q02218 4 |
| Single fiber emg abnormality 0.2833333333333375 0.0953919533983835 0.924003507191588 1.0 1.0 3 O75340,Q06210 2 |
| Muscle fiber tubular inclusions 0.2833333333333375 0.0953919533983835 0.924003507191588 1.0 1.0 3 O75340,Q06210 2 |
| Response to drugs acting on neuromuscular transmission 0.2833333333333375 0.0953919533983835 0.924003507191588 1.0 1.0 3 O75340,Q06210 2 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 0.2833333333333375 0.0953919533983835 0.924003507191588 1.0 1.0 3 O75340,Q06210 2 |
| Morning glory anomaly 0.4903094185651262 0.0940447364369901 0.9250736196502578 1.0 1.0 2 O00429 1 |
| Temporal optic disc pallor 0.4903094185651262 0.0940447364369901 0.9250736196502578 1.0 1.0 2 O00429 1 |
| Hypoplasia of the brainstem 0.3540205432969852 0.0932442888892788 0.92570949018405 1.0 1.0 30 Q96EK5,Q96KP1,O43505 3 |
| Extra axial cerebrospinal fluid accumulation 0.4872492349541125 0.0926701748903861 0.926165592011868 1.0 1.0 2 Q03252 1 |
| Abnormal csf pyruvate family amino acid concentration 0.2909152773052018 0.0920898399773446 0.9266266606740452 1.0 1.0 4 P10515,O00483,P08559 3 |
| Nocturnal seizures 0.4845290717443155 0.0914961720234674 0.9270983477625596 1.0 1.0 2 Q9NQX3 1 |
| Hypoplastic anemia 0.4838490309418584 0.0912095761628022 0.92732606599511 1.0 1.0 2 Q03426 1 |
| Abnormal renal cortex morphology 0.4132007730978609 0.0905716864560961 0.9278329303747408 1.0 1.0 51 P01889,P06280,Q14108 3 |
| Narrow face 0.362435374175631 0.0904159088567712 0.9279567150327974 1.0 1.0 33 Q7LGA3,Q14191,O60828,Q9BPU6,P06753,Q96ST3,O75648 7 |
| Abnormal cranial nerve physiology 0.4465141369093571 0.089494367315167 0.928689029854162 1.0 1.0 65 P48735,P07602,P01889,Q13501,O75874,P48651,P51798,P06753,Q13510,Q9NZ08,Q9BQP7 11 |
| Slowly progressive 0.4150071461344229 0.0877143493650482 0.9301037144401288 1.0 1.0 52 Q99720,O14773,O00584 3 |
| Abnormal glial cell morphology 0.4273028234978374 0.0870187144416996 0.9306566365598072 1.0 1.0 57 O75874,O00754,P48735,P04062 4 |
| Intellectual disability progressive 0.3025532866979812 0.0855453494179653 0.931827843956367 1.0 1.0 12 Q9NX14,P53701,O95831 3 |
| Abnormal renal resorption 0.4671880312818857 0.0850006919559767 0.932260840600634 1.0 1.0 2 Q9Y276 1 |
| Renal fanconi syndrome 0.4671880312818857 0.0850006919559767 0.932260840600634 1.0 1.0 2 Q9Y276 1 |
| Foot dorsiflexor weakness 0.3542874801162848 0.0837450347259136 0.9332591503476168 1.0 1.0 31 Q9BQT8,P04792,Q99720,Q13501,O15269,P06753,Q14739,P39210 8 |
| 2 3 toe syndactyly 0.3349079537219902 0.082905266449585 0.9339268664388588 1.0 1.0 25 Q9UBM7 1 |
| Abnormal number of granulocyte precursors 0.4603876232574126 0.0828821410953775 0.9339452545176828 1.0 1.0 2 O75533 1 |
| Clitoral hypoplasia 0.3038438610253671 0.0827579127796457 0.9340440350156978 1.0 1.0 5 Q9Y619 1 |
| Hypoplastic labia minora 0.3038438610253671 0.0827579127796457 0.9340440350156978 1.0 1.0 5 Q9Y619 1 |
| Low back pain 0.4573274396463886 0.0820005988032502 0.934646237284906 1.0 1.0 2 Q8WVX9 1 |
| Speech apraxia 0.3246790653004721 0.0818780777721915 0.934743667299041 1.0 1.0 22 Q9Y296,O75648,Q9BPU6,Q7LGA3 4 |
| Skeletal dysplasia 0.374842905565601 0.0816981141750362 0.9348867780184256 1.0 1.0 38 P16278,Q96L58,Q9HC07,Q9Y2D4,P10619,Q14739 6 |
| Pelvic girdle muscle weakness 0.3094846023853904 0.0808352691469909 0.9355729591138472 1.0 1.0 7 O14979 1 |
| Papillary renal cell carcinoma 0.3115423901940707 0.0804669891770274 0.935865849894218 1.0 1.0 6 P02545,Q9NWH9,P07954,Q92733,Q9UNW1 5 |
| Muscle hypertrophy of the lower extremities 0.3088285944324451 0.0797114201659081 0.9364667763791884 1.0 1.0 7 P53007 1 |
| Rotary nystagmus 0.2609731201088762 0.0784525491099801 0.937468074154128 1.0 1.0 4 Q9NVS9,Q9Y4R8,O94905 3 |
| Progressive microcephaly 0.3825270725945802 0.0781977308783104 0.9376707669891 1.0 1.0 41 P50897 1 |
| Microvesicular hepatic steatosis 0.3009230666182997 0.0778491589515511 0.9379480418832676 1.0 1.0 11 Q9Y276,O75648,Q9UN37,P39210 4 |
| Abnormal circulating glutamine family amino acid concentration 0.3017407045216303 0.0777681058091196 0.9380125174650042 1.0 1.0 8 Q9NVS9,O95298,O96000 3 |
| Increased c peptide level 0.4359061543692611 0.0769423593091785 0.9386693995508192 1.0 1.0 2 Q16836 1 |
| Melena 0.4342060523631414 0.0766160742145856 0.9389289711668084 1.0 1.0 2 Q9UER7 1 |
| Optic disc pallor 0.398217248436247 0.0745514520321095 0.9405716022336008 1.0 1.0 47 Q9H6K4,O14936,Q9NPL8,Q8WWY3,O95831,P04439,Q9GZY8,Q13277,P51798,O95298,Q9Y6M9,O00754,Q96L58,P03886,O96000,Q86Y39,O43837 17 |
| Cupped ribs 0.3069268962771843 0.0744647061048548 0.9406406236189911 1.0 1.0 6 Q96L58 1 |
| Sandal gap 0.3217179786282603 0.0727129525853444 0.9420345411626404 1.0 1.0 22 Q14739,Q8WVQ1,P15924,Q96L58 4 |
| Broad toe 0.3216553921665317 0.0725213412851191 0.942187022294492 1.0 1.0 22 O75648,Q9BPU6,Q7LGA3 3 |
| Upper limb amyotrophy 0.3009413120504473 0.0722101973652395 0.9424346300371318 1.0 1.0 16 Q13501,Q9BQT8 2 |
| Obstructive sleep apnea 0.2974643495883728 0.0721225528169189 0.9425043784081144 1.0 1.0 12 Q96KP1 1 |
| Butterfly vertebrae 0.399183951037059 0.0718027566234598 0.9427588790170668 1.0 1.0 2 Q8N3U4 1 |
| Lacrimal duct atresia 0.3961237674260451 0.0715243696669215 0.9429804300338074 1.0 1.0 2 Q9NX14 1 |
| Pes valgus 0.2985672742021395 0.0712956113883562 0.9431624879479006 1.0 1.0 8 P06753 1 |
| Talipes equinovalgus 0.3934036042162523 0.0712922177186862 0.9431651888317488 1.0 1.0 2 Q9Y3E5 1 |
| Progressive proximal muscle weakness 0.3842230533832102 0.0706063045078298 0.943711092666804 1.0 1.0 2 Q15149 1 |
| Abnormal length of corpus callosum 0.3726623597415808 0.0699288576254485 0.9442502842820644 1.0 1.0 2 P48449 1 |
| Nasal speech 0.3531543583355164 0.0698244325706943 0.9443334002560012 1.0 1.0 32 Q7LGA3,Q9Y296,O60828,Q9BPU6,P06753,Q9BQP7,O75648 7 |
| Elevated circulating follicle stimulating hormone level 0.222481276956283 0.069598577669619 0.9445131690523824 1.0 1.0 4 P51809 1 |
| Acute pancreatitis 0.3621217273036348 0.0694595812396046 0.9446238044124816 1.0 1.0 2 P02545 1 |
| Episodic vomiting 0.2974606717694385 0.0693697224190486 0.9446953288538268 1.0 1.0 11 P03886,Q9Y619 2 |
| Dimple chin 0.3553213192791541 0.069218515017739 0.9448156856005652 1.0 1.0 2 Q2VPK5 1 |
| Ulnar bowing 0.3447806868412045 0.0689231156721689 0.945050818623647 1.0 1.0 2 P16435 1 |
| Aplasia hypoplasia of the phalanges of the toes 0.295477728663715 0.0683142152238855 0.9455355084524876 1.0 1.0 2 P02545 1 |
| Recurrent otitis media 0.3164735546110549 0.0670563752607926 0.9465368231829652 1.0 1.0 21 Q9UBM7 1 |
| Abnormal forearm bone morphology 0.3056856347372718 0.0656444932173009 0.9476608650191436 1.0 1.0 18 Q32P28,P16435,Q6KC79,Q15427,Q9NPD8,Q96L58,Q9Y2D4,P10644 8 |
| Absence of subcutaneous fat 0.2992849846782359 0.0651929379768757 0.9480203838472284 1.0 1.0 6 P02545,O75844,P19447,P18074,P26639 5 |
| Abnormality of the pulmonary vasculature 0.3699317650575759 0.0650687359254533 0.9481192727791156 1.0 1.0 38 Q15392,O75718,Q7LGA3,Q14191,P51798,Q9BPU6,O75648 7 |
| Abnormality of the calf musculature 0.2932592515284302 0.0650594566964061 0.9481266608779916 1.0 1.0 13 P02545,Q12768,P53007 3 |
| Hyperglycemia 0.2804362257465512 0.0639819540505502 0.9489845959440126 1.0 1.0 5 O75844 1 |
| Cutis marmorata 0.3048528225265298 0.0632181362135256 0.9495928030554656 1.0 1.0 18 Q9UBM7 1 |
| Abnormality of the shoulder girdle musculature 0.3479216479552936 0.0630671462245315 0.9497130357139504 1.0 1.0 31 Q13501,P07602,P06753,O14979 4 |
| Abnormal preputium morphology 0.2766672276349982 0.0615245525221408 0.9509414613566092 1.0 1.0 5 O60828 1 |
| Tetraplegia 0.2930939696928697 0.0610456043888091 0.951322889705084 1.0 1.0 12 Q13423,P51970 2 |
| Delayed puberty 0.3966622410268638 0.0594700280114542 0.952577737393364 1.0 1.0 48 P06280,Q14108 2 |
| Down sloping shoulders 0.3103017787170896 0.0589198275404525 0.9530159653919226 1.0 1.0 20 O75648,Q9BPU6,Q7LGA3 3 |
| Failure to thrive 0.3050081521591543 0.057309546977228 0.954298615465854 1.0 1.0 272 P35606,P07602,P10253,P42892,Q9HC07,P02786,Q9BQT8,P04066,P48651,P15924,Q13510,Q14739,P39210,P51970,Q15904,Q6NUK1,P53701,Q9UBM7,P04062,Q15392,P38571,P03886 22 |
| Abnormality of the skull base 0.4064928871156723 0.0566339371762494 0.9548367999617782 1.0 1.0 52 O43505,O00754,P48651,Q9BPU6,Q9UBM7,Q96L58,Q14739,P19022 8 |
| Failure to thrive in infancy 0.3353450857615025 0.0537754525449193 0.9571140672447 1.0 1.0 28 P42892 1 |
| Tubulointerstitial nephritis 0.2620830496936774 0.053339546278358 0.957461371659649 1.0 1.0 5 P23786,P22033,Q9Y276,P09001 4 |
| Craniosynostosis 0.3598642814587367 0.0517696025031554 0.9587122767480764 1.0 1.0 36 Q8NCH0,Q6NUK1,Q9NX62,O00754,Q96L58 5 |
| Hypokalemia 0.2901453389146948 0.050689300400318 0.9595731027333972 1.0 1.0 7 Q08426 1 |
| Glomerular sclerosis 0.3467378989891277 0.0494372272575177 0.9605708613577836 1.0 1.0 32 Q14108 1 |
| Abnormality of hepatobiliary system physiology 0.4614422904056915 0.0493847679072597 0.96061266679938 1.0 1.0 77 O15118,Q8N511,P11310,P38571,Q13510,P01889,P03886,O43772,P04062 9 |
| Adult onset 0.4382394178969457 0.0485320646521021 0.961292210644506 1.0 1.0 66 P07602,Q07021,O15118,Q9UQN3,Q9Y6M1,P41440,P14923,P04062,Q12768,Q9NQ11,Q8IV08 11 |
| Impaired vibration sensation in the lower limbs 0.2852205724236642 0.0481208772058307 0.9616199078737832 1.0 1.0 14 Q9NZ09,O00400,Q12768 3 |
| Short ribs 0.2874409484663287 0.047778840977689 0.9618924997478148 1.0 1.0 9 Q14739 1 |
| Patellar dislocation 0.2954244532573125 0.0465385476667116 0.9628810107610548 1.0 1.0 17 Q9Y2D4,Q9NX62 2 |
| Abnormality of the cerebral subcortex 0.3108187495210777 0.0454953822261231 0.9637124555390646 1.0 1.0 334 P35606,P07602,O00584,Q9Y3B2,P10253,Q9HC07,O75503,P17900,Q5KU26,O00754,P48651,Q9BPU6,Q96EK5,P98164,P51970,Q6NUK1,O43505,Q9UQN3,P16278,Q96KP1,O00139,P53701,Q9UBM7,Q9NQ11,P19022,P04062,O60508,Q15392,Q7LGA3,Q13501,P03886 31 |
| Eclabion 0.3245281429635406 0.0411391425402441 0.9671849697685132 1.0 1.0 26 Q96EK5,P04062,Q6NUK1 3 |
| Coxa vara 0.2843650181389379 0.0401845691373983 0.967945979737998 1.0 1.0 12 O75718,O95831,Q8WVQ1 3 |
| Prominent occiput 0.284372066489871 0.039605031259598 0.9684080162227946 1.0 1.0 11 Q96L58 1 |
| Abnormal platelet function 0.2103471749489522 0.037601927209867 0.970005071318907 1.0 1.0 5 O00203,P27797,P62070,Q8N5K1 4 |
| Cholestasis 0.4390146434219195 0.0345720094765521 0.9724210213542572 1.0 1.0 68 Q15904,O15118,P11166,P11171,P38571,Q9UBM7,P39210,P61916,Q13510,Q14739,O75648,P10644 12 |
| Abnormality of circulating glucocorticoid level 0.281456999514179 0.0345283503635273 0.9724558355011894 1.0 1.0 10 Q13423,Q9NRG9,P16435,P10644 4 |
| Reduced visual acuity 0.4998666596821811 0.0316113718735075 0.9747819744794411 1.0 1.0 104 P50897,P06865,P07602,Q07021,O43505,P16278,P17900,Q9NZ08,O60828,P07686,Q13277,P51798,P53701,Q9Y6M9,P01889,P03886 16 |
| Limited extraocular movements 0.2627513751108887 0.0316013654158657 0.9747899544906402 1.0 1.0 6 Q9BVA1 1 |
| Generalized hirsutism 0.3109271865269705 0.0313904158883758 0.9749581843994362 1.0 1.0 23 P53634 1 |
| Abnormal circulating creatinine concentration 0.2621722846441944 0.0312004208573464 0.9751097042833948 1.0 1.0 6 Q14697,P00492,O95163,Q10471,Q9UBS4 5 |
| Arachnodactyly 0.3434679058338531 0.0298259033359817 0.9762059000789663 1.0 1.0 33 Q8NCH0,O60828,P53634,Q96L58,Q96ST3 5 |
| Specific learning disability 0.4285582482977243 0.0293679840817513 0.9765711067870696 1.0 1.0 64 P10644,P35637,Q6PI48,Q9H6K4,P11166,Q9UQN3,O43505,Q13501,Q9BVA1,Q9Y619,Q13148,O00754,P48651,P53701,Q8TC12,Q96EK5,P03886,P00367 18 |
| Gastrostomy tube feeding in infancy 0.319591151509667 0.0270413505448063 0.9784267531133116 1.0 1.0 26 Q96JM3,Q99720,P67870,P35637 4 |
| X linked dominant inheritance 0.3052363217669216 0.0253422475568735 0.9797819760634252 1.0 1.0 22 P13473 1 |
| Type i diabetes mellitus 0.2768803200799508 0.0243846744437126 0.9805457727142208 1.0 1.0 13 Q9UNE7,P03886,Q13217,P00403 4 |
| Broad thumb 0.3117950976161416 0.0243299156735182 0.9805894509329408 1.0 1.0 24 O75648,Q9BPU6,Q7LGA3 3 |
| Generalized onset motor seizure 0.3868893529326899 0.0170960893954066 0.9863599586679423 1.0 1.0 49 P07602,P11166,P16278,Q96JM3,Q13510,P03886,P04062 7 |
| Abnormal elasticity of skin 0.4127811772908639 0.015926161999189 0.9872932983904876 1.0 1.0 59 Q8NCH0,Q15904,P10644,O75844,Q6NUK1,Q14191,P48651,O00754,Q96L58,Q9Y2D4,O96000,P04062,O75787 13 |
| Abnormal lip morphology 0.3494272719747375 0.0151424002271781 0.9879185743432828 1.0 1.0 258 P35606,P15586,Q00534,Q9Y3B2,Q96JM3,P06280,P14923,Q96ST3,Q9Y2D4,Q8WVQ1,P67870,Q14574,P04066,O60828,Q5KU26,P48651,Q9BPU6,Q02487,Q96EK5,Q14739,O75648,Q8NCH0,Q6NUK1,O96028,P16278,Q96KP1,Q9UBM7,Q96L58,P06753,Q10471,P19022,P04062,O75718,O75844,P11166,Q7LGA3,Q9Y296,P11233 38 |
| Tracheomalacia 0.2682405661447064 0.0144549179194213 0.9884670457906704 1.0 1.0 9 Q96L58 1 |
| Coarctation of aorta 0.3382220442121524 0.0144525313930557 0.9884689497643212 1.0 1.0 33 Q9UBM7 1 |
| Mandibular prognathia 0.346384336416615 0.0104697006495473 0.9916465401060156 1.0 1.0 36 Q6NUK1,P67870,P16278,O60828,O00754,P48651 6 |
| Abnormal conus terminalis morphology 0.2540871934604947 0.010231033713193 0.9918369585692072 1.0 1.0 7 Q9H3P2,P14868,O96028,P35222,O95202,O60341 6 |
| Spastic paraparesis 0.2957851438506647 0.0099745241099412 0.9920416131763587 1.0 1.0 21 Q9H6K4,Q13057,Q9Y619,P04062,O75787 5 |
| Abnormal shoulder morphology 0.3058422969806648 0.0085223041355742 0.993200267418245 1.0 1.0 24 Q9Y296,O75648,Q9BPU6,Q7LGA3 4 |
| Abnormality of the testis size 0.3124920317432568 0.007757945755669 0.9938101169484984 1.0 1.0 26 P51809,O43505,Q14191,O60828,Q9NP72 5 |
| Short long bone 0.3292228334052949 0.0074443627255831 0.9940603127777536 1.0 1.0 31 Q9NWH9,O15228,P16278,Q9NPD8,Q96L58,Q9Y2D4,Q8WVQ1,P10644 8 |
| Slender build 0.2684586420369955 0.0066237192970198 0.9947150752826734 1.0 1.0 14 Q14191,P10644,P06753 3 |
| Narrow nasal ridge 0.2028984348715878 0.0066056914144873 0.9947294591371284 1.0 1.0 6 O75844 1 |
| Absent septum pellucidum 0.3321755018864012 0.0065271722502273 0.9947921070153616 1.0 1.0 32 Q15392,P48651,O43505 3 |
| Abnormal levels of alpha fetoprotein 0.1947565543071194 0.0051431580979823 0.9958963716514406 1.0 1.0 6 P16930,Q15149,Q9NWH9,P35222,Q9UJS0 5 |
| Abnormality of facial musculature 0.4459401586787638 0.0042329132036355 0.9966226339932932 1.0 1.0 75 Q9BQT8,Q9NQ11,Q13501,Q96JM3,P10253,P48651,O00754,P51798,P06753,Q13614,O00592,Q9BQP7,P04062,Q13510 14 |
| Prominent forehead 0.4373580660319636 0.003790181212376 0.9969758801684874 1.0 1.0 71 Q15392,Q7LGA3,P15586,P04066,O00754,P48651,Q9BPU6,Q96L58,P11233,Q14739,P19022 11 |
| Waddling gait 0.3000594020793239 0.002783829373566 0.997778828391827 1.0 1.0 23 Q13510,P50402,Q8WVQ1,P06753 4 |
| Abnormal distal phalanx morphology of finger 0.3765605839619638 0.0020215356585223 0.9983870490075352 1.0 1.0 47 O75844,Q6NUK1,Q7LGA3,P51798,P53634,P15924,Q96L58,Q8WVQ1,Q14807 9 |
| Toe clinodactyly 0.2961440254141639 0.0019340475616583 0.9984568542727276 1.0 1.0 22 O75648,Q9BPU6,Q7LGA3 3 |
| Thickened skin 0.4746218586763737 0.0014180950716771 0.99886852421579 1.0 1.0 91 Q14574,P16278,Q14191,P04066,Q14126,P06280,Q07954,P14923,P53634,Q02487,P15924,P04062 12 |
| Joint contracture of the hand 0.3645075245142443 0.0007659694019683 0.9993888448998838 1.0 1.0 43 Q15392,O75844,Q8IZA0,O60828,P42892,P06753,Q8WVQ1 7 |
| Hypoplastic female external genitalia 0.2657818183234918 0.000638935544655 0.999490203228258 1.0 1.0 14 Q6DKJ4,Q9Y619,Q9NP72,Q6NUK1 4 |
| Abnormal basal ganglia mri signal intensity 0.313110355878625 0.0003755723250012 0.9997003366474616 1.0 1.0 27 P16278 1 |
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