| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Recurrent bacterial infections 0.6538489806886565 2.8675941219601926 0.0041360575846816 0.99999999408116 0.0506861105082563 16 P42224,Q86Y56,Q5F1R6,O00203,Q7Z2Z2,O95394,P40763,Q15813,P57076,P13051,P00491,P06132 12 |
| Chronic hemolytic anemia 0.9368388301182352 2.728439551066226 0.0063634751989543 0.9999999999997876 0.0684410473751061 2 P60174 1 |
| Hepatocellular adenoma 0.9256378344741794 2.6809226681610707 0.0073419480437841 0.9999999999999976 0.0752361751415697 2 Q9UKG1 1 |
| Amegakaryocytic thrombocytopenia 0.9122588674548876 2.623830347338911 0.0086947082072086 1.0 0.0815926671879906 2 Q06124 1 |
| Reduced factor xiii activity 0.9122588674548876 2.623830347338911 0.0086947082072086 1.0 0.0815926671879906 2 Q06124 1 |
| Reduced factor xii activity 0.9122588674548876 2.623830347338911 0.0086947082072086 1.0 0.0815926671879906 2 Q06124 1 |
| Increased overbite 0.9001244555071597 2.5717314783845437 0.0101191343081188 1.0 0.0915931939057647 2 Q96BT7 1 |
| Biventricular hypertrophy 0.8777224642190427 2.474753445661155 0.0133328183217469 1.0 0.1093126403282771 2 P36543 1 |
| Adenocarcinoma of the colon 0.5264930438530672 2.43389037185138 0.0149375184627293 1.0 0.1173185513627767 21 P61353,Q07864,P62273,Q6PD74,P62913,P60866,P62854,P62899,P62081,P28340,P62847,P08708,P62244,P42766 14 |
| Abnormal reticulocyte morphology 0.4618441846443543 2.4213461775861287 0.0154631438226424 1.0 0.1202076655700585 31 P61353,P62273,P08237,P00558,P62913,Q8NBF2,P60866,P62854,P62899,P62081,P62847,P46777,P08708,P11413,P62244,P42766,Q15437 17 |
| Recurrent staphylococcal infections 0.8646546359676458 2.4177061009812575 0.0156186861604812 1.0 0.1203929417193249 2 O95394 1 |
| Recurrent staphylococcus aureus infections 0.8646546359676458 2.4177061009812575 0.0156186861604812 1.0 0.1203929417193249 2 O95394 1 |
| Upper limb asymmetry 0.8637212196639708 2.413617861486562 0.0157950184680433 1.0 0.121173996776256 2 P07437 1 |
| Macroscopic hematuria 0.8490976975731208 2.349335550320859 0.018806949721235 1.0 0.134446202008055 2 P07741 1 |
| Macrocytic anemia 0.4376978994767189 2.3321301610293848 0.0196938447984005 1.0 0.1378569135888037 34 P22314,P11586,O43175,P62899,P62263,P62847,P46777,P11172,P62913,Q5F1R6,Q7Z2Z2,P42766,P61353,P62273,P00492,P60866,P62854,P62081,P08708,P62244 20 |
| Adenocarcinoma of the intestines 0.4751541625627093 2.288222033137078 0.0221245942336305 1.0 0.1489418560263995 24 P61353,Q07864,P62273,Q6PD74,P62913,P60866,P62854,P62899,P62081,P28340,P62847,P08708,P43246,P62244,P42766 15 |
| Cerebral venous thrombosis 0.8329184816428183 2.277705913161556 0.022744105197245 1.0 0.1513294102716258 2 P10644 1 |
| Immune dysregulation 0.8282514001244626 2.2569448178251013 0.0240115230854882 1.0 0.1574697031894375 2 Q15833 1 |
| Asthma 0.5039938802981538 2.256394918344337 0.0240459096097631 1.0 0.1574697031894375 21 P37837,O95394,Q8TD19,P50542,Q08J23,Q9UID3 6 |
| Webbed neck 0.4153025656917224 2.250912314885948 0.0243910916031422 1.0 0.15859413900137 41 P22681,Q13363,P21359,Q02750,P28482,P62899,P62847,P62913,P52788,P42766,P61353,P62273,Q06124,P60866,P41227,P62081,P62854,Q9UQ13,P62070,P08708,P62244 21 |
| Abnormality of hair growth 0.80725088108982 2.2273688266318907 0.0259226340612492 1.0 0.1655339254857272 6 Q9UQ13,P46778,P04080 3 |
| Fetal ultrasound soft marker 0.5152340339971705 2.1902415938340827 0.0285067201679847 1.0 0.1710029106139871 19 P22681,Q9Y617,O60826,P55072,P62070,P40855,Q06124,P50542 8 |
| Prominent occiput 0.5631183107526908 2.162895661956788 0.0305492055099789 1.0 0.1778858832944126 15 Q9Y617,Q93074,O60826,O75175,O43175 5 |
| Neoplasm of the large intestine 0.3812204735411384 2.137100961558876 0.0325897807728652 1.0 0.1845154960661293 51 P20585,Q6PD74,Q16658,Q15645,Q15437,P62899,P62847,P42771,Q8NFG4,Q07864,P62913,P52701,P12931,O43684,P42766,P61353,P60866,P62854,P62081,P28340,P10644,P08708,P43246,P62244 24 |
| Atopic dermatitis 0.8289810696677173 2.1361985479366994 0.0326632337663519 1.0 0.1845154960661293 5 O95394,P62070 2 |
| Neoplasm of the colon 0.4002920552971122 2.1292726794527774 0.0332317067993679 1.0 0.1857631412109611 43 P20585,Q6PD74,Q16658,Q15645,P62899,P62847,P42771,Q8NFG4,Q07864,P62913,P52701,O43684,P42766,P61353,P60866,P62854,P62081,P28340,P10644,P08708,P43246,P62244 22 |
| Thickened nuchal skin fold 0.5677813582428681 2.1043656134050353 0.0353465665737653 1.0 0.1911587322464872 14 P22681,Q9Y617,P62070,P40855,Q06124,P50542 6 |
| Normochromic anemia 0.4643582393494724 2.1015436638188287 0.0355932692680074 1.0 0.1920859903471806 23 P61353,P62913,P60866,P62854,P62899,P62081,P08708,P60174,P62847,P04075,P62244,P42766 12 |
| Erythroid hypoplasia 0.5021555840328927 2.090270839545527 0.0365934771951481 1.0 0.1955744655011632 19 P61353,P62273,P62913,P60866,P62854,P62263,P62899,P62081,P62847,P08708,P62244,P42766 12 |
| Increased circulating iga level 0.7766970512792624 2.0874588686164546 0.036846675369734 1.0 0.1962201705434874 6 Q96BN8 1 |
| Abnormal erythrocyte enzyme level 0.501529997545561 2.0854665146215754 0.0370269746342266 1.0 0.1965414298686852 19 P61353,P62273,P62913,P60866,P62854,P62899,P62081,P62847,P46777,P08708,P62244,P42766 12 |
| Weakness of the intrinsic hand muscles 0.7843808338519043 2.0596717712832606 0.0394299298150959 1.0 0.2002602324275596 2 P49773 1 |
| Malignant genitourinary tract tumor 0.4780087586961194 2.0477010277017538 0.0405893030950381 1.0 0.2050096181739441 21 P61353,P62273,P62913,P60866,P62854,P62899,P62081,P62847,P52701,P08708,P43246,P62244,P42766 13 |
| Persistence of hemoglobin f 0.4761559938034589 2.0326755572389987 0.042085312329531 1.0 0.2088729236246324 21 P61353,P62273,Q5F1R6,P62913,P60866,P62854,P62899,P62081,P62847,P46777,P08708,P62244,P42766 13 |
| Multiple lentigines 0.6971378596264426 2.028970030731411 0.0424613429056166 1.0 0.2100517475108034 8 P10644,Q9UQ13,Q02750,Q06124 4 |
| Hyperphosphatemia 0.7747355320473017 2.0157991491104914 0.0438209825838848 1.0 0.2100517475108034 2 P10644 1 |
| Increased vertebral height 0.7722464219041786 2.0044488454665013 0.0450220014154609 1.0 0.2121603798660537 2 Q14999 1 |
| Psychotic episodes 0.8753013427932337 1.9935583802209509 0.046200337551276 1.0 0.2157116884033533 3 Q99497 1 |
| Immunologic hypersensitivity 0.4200815797242852 1.982684979280294 0.0474026284416966 1.0 0.2190873757401367 30 P37837,Q9NZ08,O95394,P40763,Q8TD19,O00192,P50542,Q08J23,Q9UID3 9 |
| Vasculitis 0.6533253335835473 1.9798029447700216 0.047725675366969 1.0 0.2199133690548542 9 Q9NZ08,O95394,Q96BN8,Q9Y3Z3 4 |
| Truncus arteriosus 0.6163633797422696 1.9661173858685088 0.0492850525432921 1.0 0.223971523097039 10 Q8TD19,P46109,O00192,P28482 4 |
| Decreased proportion of cd3 positive t cells 0.7626011200995743 1.9603584532388112 0.0499539083199851 1.0 0.2260126734693894 2 O95394 1 |
| Impaired oropharyngeal swallow response 0.7619788425637812 1.9575080817092323 0.0502877625500264 1.0 0.2266916791086497 2 Q9Y263 1 |
| Hemolytic anemia 0.4090382169603596 1.953732992417301 0.0507328023858781 1.0 0.2282476768758358 32 P00568,P08237,P42224,Q969U7,P00558,Q8NBF2,P00390,P60174,P40763,O95394,P48637,P04075,P11413,P00491 14 |
| Cessation of head growth 0.7153554757893249 1.9502993278124536 0.051140452747836 1.0 0.2283006410558938 7 Q14232,Q9NR50,P49770,Q13144 4 |
| Gastrointestinal carcinoma 0.3999529209412042 1.9501406364101503 0.0511593589705361 1.0 0.2283006410558938 34 P61353,Q8NFG4,Q07864,Q6PD74,P62913,P60866,P62854,P62899,P62081,P28340,P62847,P52701,P12931,P08708,P43246,P62244,P42766 17 |
| Porphyrinuria 0.8629767852950101 1.943985082521706 0.0518972500235266 1.0 0.2289790828740736 3 P08397 1 |
| Respiratory paralysis 0.8629767852950101 1.943985082521706 0.0518972500235266 1.0 0.2289790828740736 3 P08397 1 |
| Elevated urinary dicarboxylic acid level 0.8629767852950101 1.943985082521706 0.0518972500235266 1.0 0.2289790828740736 3 P08397 1 |
| Narrow foot 0.7585563161169933 1.9418185636473957 0.052159068754032 1.0 0.2295572853529834 2 O60828 1 |
| Abnormality of the thenar eminence 0.4949464064471821 1.94165435007275 0.0521789585389957 1.0 0.2295572853529834 18 P61353,P62273,P62913,P62854,P60866,P62081,P62899,P62847,P08708,P62244,P42766 11 |
| Reticulocytopenia 0.4804523278637552 1.9224475513677224 0.054549467134618 1.0 0.2337677315633456 19 P61353,P62273,P62913,P60866,P62854,P62899,P62081,P62847,P08708,P62244,P42766 11 |
| Wheezing 0.7523335407591911 1.913238629574955 0.0557175102818554 1.0 0.234949021677455 2 P57076 1 |
| Absent shortened dynein arms 0.7523335407591911 1.913238629574955 0.0557175102818554 1.0 0.234949021677455 2 P57076 1 |
| Chronic rhinitis 0.7523335407591911 1.913238629574955 0.0557175102818554 1.0 0.234949021677455 2 P57076 1 |
| Absent outer dynein arms 0.7523335407591911 1.913238629574955 0.0557175102818554 1.0 0.234949021677455 2 P57076 1 |
| Nasal congestion 0.7523335407591911 1.913238629574955 0.0557175102818554 1.0 0.234949021677455 2 P57076 1 |
| Respiratory insufficiency due to defective ciliary clearance 0.7523335407591911 1.913238629574955 0.0557175102818554 1.0 0.234949021677455 2 P57076 1 |
| Abnormal respiratory motile cilium morphology 0.7523335407591911 1.913238629574955 0.0557175102818554 1.0 0.234949021677455 2 P57076 1 |
| Abnormal respiratory motile cilium physiology 0.7523335407591911 1.913238629574955 0.0557175102818554 1.0 0.234949021677455 2 P57076 1 |
| Abnormal nasal mucosa morphology 0.7523335407591911 1.913238629574955 0.0557175102818554 1.0 0.234949021677455 2 P57076 1 |
| Abnormal atrial arrangement 0.7523335407591911 1.913238629574955 0.0557175102818554 1.0 0.234949021677455 2 P57076 1 |
| Pulmonary cyst 0.7379968237711707 1.9075147700273432 0.0564539602484677 1.0 0.2356630614573022 6 P10644,Q86TI2 2 |
| Abnormal t cell subset distribution 0.5710272513270618 1.901521871771664 0.0572336904657728 1.0 0.2374003621769943 11 Q96MG7,O75083,Q96BN8,O95394,Q9NZC9,P00491 6 |
| Cerebral hypomyelination 0.477476080624844 1.8992553164047612 0.057530914833513 1.0 0.2379853499583602 19 Q9H7D7,Q13144,Q9NR50,P04350,Q14232,O43175 6 |
| Abnormal circulating ige level 0.7729540513904012 1.8895227052997288 0.0588218233134862 1.0 0.2409270200411701 5 O95394,Q96MG7 2 |
| Neoplasm of the stomach 0.4295166495349605 1.887610342227776 0.0590782806311516 1.0 0.2417608064144978 24 Q8NFG4,P20585,Q6PD74,P60866,P10644,P12931,O43684,P43246 8 |
| Anterior uveitis 0.7464219041692667 1.8860247563672896 0.0592916186667791 1.0 0.2424168058370727 2 P14174 1 |
| Elevated circulating thyroid stimulating hormone concentration 0.7454884878655984 1.8817223064951472 0.0598737294328333 1.0 0.2430575641540684 2 P10644 1 |
| Abnormal muscle glycogen content 0.7695144773423854 1.8742010141737089 0.0609027244131827 1.0 0.2454906113691874 5 P08237,O75648 2 |
| Abnormal mean corpuscular volume 0.4247287513603757 1.8694334670663093 0.0615625320582937 1.0 0.2470608727291139 25 P61353,P62273,Q8NBF2,P62913,Q5F1R6,Q7Z2Z2,P62899,P60866,P62854,P62081,P62847,P46777,P08708,P62244,P42766 15 |
| Sunken cheeks 0.7420659614188003 1.865933932041653 0.0620506095095356 1.0 0.248148150540759 2 P04350 1 |
| Increased muscle glycogen content 0.8055045362281934 1.8635843529799585 0.0623800966599035 1.0 0.2488127590160724 4 P08237,O75648 2 |
| Furrowed tongue 0.7244155294956172 1.8436828877755784 0.0652293683217986 1.0 0.2554089407207033 6 Q15437 1 |
| Reduced antigen specific t cell proliferation 0.8346052443698884 1.8290695005042696 0.0673891972900642 1.0 0.2604206001861659 3 O95394 1 |
| Abnormal t cell proliferation 0.8346052443698884 1.8290695005042696 0.0673891972900642 1.0 0.2604206001861659 3 O95394 1 |
| Duplication of thumb phalanx 0.4327169920090123 1.8290088195475187 0.0673982870313354 1.0 0.2604206001861659 23 P61353,P62273,P62913,P60866,P41227,P62899,P62081,P62854,P62847,P08708,P62244,P42766 12 |
| Thick upper lip vermilion 0.5923902074535952 1.8274179964708848 0.0676369455125871 1.0 0.2608299255747285 10 Q9H7D7,P62081,Q08J23,P41227 4 |
| Cutaneous abscess 0.8289092263104032 1.8058708206516487 0.0709385199105665 1.0 0.2688669470034004 3 O95394 1 |
| Impaired antigen specific response 0.6856079186505846 1.803880137859712 0.0712500993234326 1.0 0.2688669470034004 7 O95394,Q96MG7 2 |
| Long hallux 0.7913370547236327 1.8033459543993429 0.0713338997420374 1.0 0.2688669470034004 4 P52788 1 |
| Abnormality of the musculature of the hand 0.3783059249519608 1.7804413144066276 0.0750037655063668 1.0 0.2769323199754467 36 P61353,Q96IJ6,P62913,P60866,P62854,P62899,P62081,P62847,P55072,P41250,P08708,P49773,P62244,P42766 14 |
| Female reproductive system neoplasm 0.4267257967928826 1.776795464217762 0.0756018984382718 1.0 0.2782417695340905 23 Q8NFG4,P20585,P60866,P10644,P12931,Q15645,O43684,P43246,Q15437 9 |
| Recurrent sinusitis 0.7469917331058535 1.7734032377789024 0.0761619128827693 1.0 0.2795469534739234 5 P57076 1 |
| Skin rash 0.4440168312376485 1.7692182039269293 0.0768574674349036 1.0 0.2802414214865997 21 P22681,P28070,Q15833,Q96BN8,Q5F1R6,P14174,Q7Z2Z2,P40763,Q13546 9 |
| Acute kidney injury 0.7458427273298203 1.7682399484599316 0.0770207983520525 1.0 0.2805275452328544 5 P07741,P00338,P04075 3 |
| Progressive muscle weakness 0.4925956275152807 1.763412135847497 0.0778310044584336 1.0 0.2820095287425376 16 Q7Z392,P06753,Q9Y2Z4,P12004,O75381,P60174,P40855,P60891,P50542,O14908 10 |
| Partial duplication of the phalanx of hand 0.4590724187069537 1.7549704461346791 0.079264363055219 1.0 0.2830604715042235 19 P61353,P62273,P62913,P60866,P62854,P62899,P62081,P62847,P08708,P62244,P42766 11 |
| Hamartomatous polyposis 0.7795308553460992 1.7529341925261552 0.0796133036069757 1.0 0.2840846298106838 4 Q15437 1 |
| Thickened cortex of long bones 0.7146857498444316 1.7389389691720956 0.0820454986844141 1.0 0.287031921148912 2 Q15813 1 |
| Typical absence seizure 0.5238752631344687 1.7370182465497306 0.0823839502163545 1.0 0.287031921148912 13 O94903 1 |
| Abnormal number of erythroid precursors 0.4100916271800269 1.7364992225989462 0.0824756017079419 1.0 0.287031921148912 25 P61353,P62273,P62913,P60866,P62854,P62263,P62899,P62081,P62847,P08708,P62244,P00491,P06132,P42766 14 |
| Decreased proportion of cd4 positive helper t cells 0.7754393000503818 1.7354202750803172 0.0826663914405816 1.0 0.2871337958015947 4 O95394 1 |
| Oroticaciduria 0.711885500933418 1.7258856892265173 0.0843679797867578 1.0 0.2881895575867283 2 P11172 1 |
| Abnormal breath sound 0.5750022218905442 1.7258336587597336 0.084377342567059 1.0 0.2881895575867283 10 P57076 1 |
| Decreased circulating progesterone 0.6973522979399185 1.7155179630583752 0.0862503048905494 1.0 0.292037143447927 6 Q14232,Q9NR50,Q13144 3 |
| Abnormal circulating progesterone level 0.6973522979399185 1.7155179630583752 0.0862503048905494 1.0 0.292037143447927 6 Q14232,Q9NR50,Q13144 3 |
| Autoimmune antibody positivity 0.5731688092501823 1.71507778672351 0.0863309663328819 1.0 0.2920938912713571 10 P42224,O95394,P22314,Q13546,Q96J02 5 |
| Elevated urinary delta aminolevulinic acid 0.7703321411657176 1.7135289683402328 0.0866152687133925 1.0 0.2924064943049611 4 P08397 1 |
| Enlarged ovaries 0.7692953668738407 1.7090809413333288 0.0874359573762855 1.0 0.2935707233476978 4 Q15437 1 |
| Psychosis 0.3948099223167922 1.7047568887268931 0.0882397749875087 1.0 0.2950577991718381 29 Q8N0X7,Q93074,P10644,Q99497,P08397 5 |
| Pure red cell aplasia 0.4438726665460255 1.6985753356565343 0.0893992269329224 1.0 0.2969795540046428 20 P61353,P62273,P62913,P60866,P62854,P62899,P62081,P62847,P08708,P62244,P00491,P42766 12 |
| Synovitis 0.8007934325605943 1.6907862692328497 0.0908776305641823 1.0 0.2992239513024041 3 Q06124 1 |
| Hyperuricosuria 0.7037958929682717 1.6881133970462128 0.0913894632205181 1.0 0.2999994343345191 2 P00492 1 |
| Neutropenia in presence of anti neutropil antibodies 0.6286946588008581 1.673712779747861 0.0941870609319841 1.0 0.3056576581149512 8 P42224,O95394,P40763,Q96J02 4 |
| Developmental glaucoma 0.3985800681891541 1.65529294428099 0.0978650894765824 1.0 0.3104381151960155 26 P61353,Q9Y3Z3,P62273,P62913,P60866,P62854,P62899,P62081,P62847,P08708,P62244,P42766 12 |
| Abnormal shape of the occiput 0.3926525430672095 1.6537058354045326 0.0981872964254928 1.0 0.3110285044774274 28 Q9Y617,Q93074,O60826,O75175,P62266,P40855,O43175,P50542 8 |
| Abnormal paranasal sinus morphology 0.4382545741301792 1.6530049908021265 0.0983298478494376 1.0 0.3110489512247609 20 P28070,Q15833,Q86Y56,Q5F1R6,Q7Z2Z2,P10644,O95394,P21359,Q06787,P00491,P57076 11 |
| Gastrointestinal inflammation 0.4444058015646034 1.6390138542331432 0.1012103743972399 1.0 0.3143786613827959 19 Q15833,P42224,O95394,O43175,Q13546 5 |
| Thickened helices 0.5190422359021462 1.6381723426882684 0.101385747331409 1.0 0.3144222248512898 12 P52788,Q02750,Q06124,P62070 4 |
| Aplasia hypoplasia of the spleen 0.7528019925280189 1.638147052856603 0.1013910215337565 1.0 0.3144222248512898 4 P08865,Q8TD19,P57076 3 |
| Pericarditis 0.7869915711210134 1.633971069515191 0.1022649254030603 1.0 0.3158466040658031 3 P14174 1 |
| Autoimmunity 0.3642484670823989 1.6304028445911225 0.1030163838616868 1.0 0.3175238642156242 36 Q06787,P00491,Q9Y3Z3,P42224,Q969U7,Q92888,P14174,Q9NZC9,P40763,P22314,O95394,O00192,Q13546,Q96J02,Q15437 15 |
| Abnormal hemoglobin 0.3957198368485403 1.62874635947961 0.1033667243055993 1.0 0.3179604958283274 26 P61353,Q9UKG1,Q5F1R6,P62913,P60866,P62854,P62899,P62081,P62847,P08708,P62244,P42766 12 |
| Chronic sinusitis 0.7828963886411684 1.6170766973339925 0.1058617262254979 1.0 0.3225959670511674 3 P57076 1 |
| Abnormal bronchus morphology 0.4163895003474803 1.6095351554955069 0.1074993742619834 1.0 0.3234889004289178 22 Q86TI2,P42224,O75083,Q92888,O95394,Q13546,P57076 7 |
| Dry hair 0.7793594921869884 1.6024728011114142 0.1090510974044398 1.0 0.3264777600971068 3 P46778 1 |
| Exanthem 0.7793453575879403 1.6024144161025229 0.1090639990523478 1.0 0.3264777600971068 3 Q15833 1 |
| Increased mean corpuscular volume 0.4066410065805598 1.6005906390161635 0.1094676169542587 1.0 0.3274715164253382 23 P61353,P62273,Q5F1R6,P62913,P60866,Q7Z2Z2,P62899,P62854,P62081,P62847,P46777,P08708,P62244,P42766 14 |
| Focal motor seizure 0.4236561605661875 1.5999274173607214 0.1096146861879741 1.0 0.3274828304347906 21 O94903,Q05639 2 |
| Pyoderma gangrenosum 0.6848164281269502 1.5991550093628306 0.1097861642850446 1.0 0.3277808993774911 2 O75083 1 |
| Spinocerebellar tract degeneration 0.683883011823279 1.5947687731393032 0.1107639524390391 1.0 0.3294092560825295 2 Q99700 1 |
| Abnormality of the spinocerebellar tracts 0.683883011823279 1.5947687731393032 0.1107639524390391 1.0 0.3294092560825295 2 Q99700 1 |
| Widened subarachnoid space 0.3909137907974984 1.5608445247984013 0.1185604390889334 1.0 0.3422398858589023 25 O94903,Q93074,Q05639 3 |
| Oral ulcer 0.6033064286330004 1.5395871255966065 0.1236610256531909 1.0 0.3515357334914447 8 Q5F1R6,Q7Z2Z2,Q9NZ08,P61011,Q13546 5 |
| Reduced vital capacity 0.670815183571877 1.533264229841634 0.1252107642578499 1.0 0.3535135289824781 2 P55072 1 |
| Unilateral renal agenesis 0.4408067017145683 1.527964823157094 0.1265212720270996 1.0 0.3561137527314485 18 Q6UVJ0,Q06124,Q2VPK5 3 |
| Bronchiectasis 0.4498946941983869 1.5218811279713331 0.1280388686627773 1.0 0.3587770504399434 17 Q86TI2,P42224,Q92888,O95394,Q13546,P57076 6 |
| Increased intracranial pressure 0.4498646437807621 1.5216555292067035 0.1280954159523053 1.0 0.3587770504399434 17 Q96JJ3,Q16658,P60866,P10644,Q9NZ08,P51570,P43246,Q15437 8 |
| Albinism 0.66801493466086 1.5200628949519377 0.1284951690508693 1.0 0.3596190834126693 2 O00203 1 |
| Dysuria 0.6554588072316632 1.514947177488614 0.1297857816086056 1.0 0.3615178596788156 6 P07741,P08397,Q8N0X7 3 |
| Kyphoscoliosis 0.3140795710524861 1.509969014488377 0.1310513308087941 1.0 0.3634924958294891 58 Q8N0X7,Q06124,P36543,O95340,P10412,P04350,P41227,O15347,O94992,P52788,Q02750,O60524 12 |
| Juvenile myelomonocytic leukemia 0.6857652248284455 1.4958537161291083 0.134691779752315 1.0 0.3709053242891411 5 P22681,Q06124,Q02750 3 |
| Myeloid leukemia 0.6857652248284455 1.4958537161291083 0.134691779752315 1.0 0.3709053242891411 5 P22681,Q06124,Q02750 3 |
| Recurrent mycobacterial infections 0.7525676937441549 1.491510167912269 0.1358276036841741 1.0 0.371999985883982 3 P42224,P57076 2 |
| Female infertility 0.7525676937441539 1.4915101679122642 0.1358276036841754 1.0 0.371999985883982 3 P57076,Q15645 2 |
| Rapidly progressive 0.5351546222617874 1.4904230770403326 0.1361130284437917 1.0 0.3725584748602226 10 O95817,P52565,Q96T60,Q8NCW5 4 |
| Pectus excavatum of inferior sternum 0.7518316295369047 1.4884542451009992 0.1366311401164397 1.0 0.372870047931507 3 Q06124 1 |
| Cardiac diverticulum 0.6838337977103004 1.4870317079988271 0.1370064366297001 1.0 0.3734655141873419 5 P43246,Q16658,P60866 3 |
| Abnormality of t cell physiology 0.493880930561284 1.4753933295110464 0.1401068276853698 1.0 0.3796255538528901 12 Q96MG7,O95394,P11172,O00192,P00491 5 |
| Pancreatic hypoplasia 0.6469380484056191 1.4738979477935836 0.1405090703941578 1.0 0.3801594251684483 6 Q9UKG1,P40763,Q5F1R6 3 |
| Irregular femoral epiphysis 0.7482870412640364 1.4737334813743488 0.1405533643698704 1.0 0.3801594251684483 3 P50542 1 |
| Irregular epiphyses 0.6801798809332996 1.4703338363514211 0.1414713612233256 1.0 0.3808409077014901 5 P26373,P50542 2 |
| Atonic seizure 0.4150661988069267 1.4638908747244346 0.1432237670871532 1.0 0.3839740993286671 20 O94903,Q05639 2 |
| Abnormal cell proliferation 0.7111094615969396 1.4576100755518542 0.1449480508680807 1.0 0.387914250888757 4 O95394,Q96MG7 2 |
| Tibialis muscle weakness 0.6543248288736807 1.4554300891795138 0.1455502314671635 1.0 0.3888428451410897 2 O14908 1 |
| Neonatal insulin dependent diabetes mellitus 0.7435680590323793 1.4541241218232814 0.1459118969947028 1.0 0.3893539294587196 3 Q9UKG1 1 |
| Broad based gait 0.3807856641697118 1.4475207844421312 0.1477511195251488 1.0 0.391733665486351 24 O76075,P52788,Q93074,P50542 4 |
| Retinopathy 0.3794329679875226 1.4351941220246245 0.1512317881457692 1.0 0.3975161032859753 24 Q9UKG1,Q9H3P2,P07437,P40763,Q15555 5 |
| Wide anterior fontanel 0.395489202165977 1.4298189764158165 0.1527689812146317 1.0 0.4008651051274867 22 O75718,Q93074,Q96MG7,P37837,P50542,Q08J23 6 |
| Unusual fungal infection 0.5529172975286821 1.423806912308884 0.1545023742038678 1.0 0.4033297272906223 9 O75083,O95394,P40763,P42224 4 |
| Atlantoaxial abnormality 0.6459240821406345 1.415706282363737 0.15686151823904 1.0 0.4071629755086042 2 Q96L58 1 |
| Heat intolerance 0.6339976725981007 1.4114389550721782 0.1581152234489629 1.0 0.4094870744392121 6 Q02750 1 |
| Dialeptic seizure 0.3068806569107831 1.4066731864759177 0.1595243202029448 1.0 0.4117658335290018 57 Q9H7D7,Q93074,P04080,Q14353,O94903,Q05639 6 |
| Nephropathy 0.3917836497220992 1.39786630504181 0.1621532187299679 1.0 0.4161720173018997 22 P57081,Q9UKG1,Q9NPF4 3 |
| Rheumatoid factor positive 0.6961356820527591 1.3924594430612294 0.1637833148162086 1.0 0.4180086722640367 4 O95394 1 |
| Spina bifida occulta 0.4300560071137458 1.3725925536384065 0.1698790481002701 1.0 0.4273622063105859 17 Q14999,Q06124,Q08J23,P35250 4 |
| Abnormal stomach morphology 0.2807145901114721 1.370491179532386 0.1705336269226243 1.0 0.428010002491591 83 Q9Y3C4,P20585,P35250,Q6PD74,Q8TD19,Q15645,Q13546,P28482,P31150,P57081,Q92796,Q8NFG4,Q93074,Q9NPF4,P46109,P12931,O43684,P50542,P60866,P41227,P10644,P43246 22 |
| Hashimoto thyroiditis 0.7233178076316127 1.3698600148849749 0.1707306035024922 1.0 0.428010002491591 3 Q15437 1 |
| Amelogenesis imperfecta 0.6359676415681448 1.3685834014884624 0.1711295354043702 1.0 0.428620880182672 2 Q5F1R6 1 |
| Slender build 0.4729078078753981 1.3388947770445432 0.1806049302198071 1.0 0.441951402773122 12 P10644,Q93074,P04350 3 |
| Absent thumb 0.3684732178684498 1.3352528249663904 0.1817936129340414 1.0 0.4434250825621682 24 P61353,P62273,P62913,O00232,P60866,P62854,P62899,P62081,P62847,P46777,P08708,P62244,P42766 13 |
| Metaphyseal irregularity 0.5081538504249671 1.3294728846548858 0.183692005848715 1.0 0.4454996067746456 10 P26373,Q5F1R6,P50542,Q9NR45 4 |
| Heinz bodies 0.6275668948350999 1.328802247139706 0.1839132206326041 1.0 0.4456133612237736 2 P11413 1 |
| Abnormal proportion of cd4 positive t cells 0.5906126336063128 1.3266733852244768 0.1846167486777756 1.0 0.4461700153114815 7 O95394,Q96BN8 2 |
| Hypoplasia of the ear cartilage 0.5905773655811064 1.3264945823797218 0.1846759284553321 1.0 0.4461700153114815 7 P57081,Q9NPF4 2 |
| Eclabion 0.3358342738382667 1.325168640524114 0.1851152239486837 1.0 0.4462532091823438 36 Q9H7D7,Q71SY5,Q9Y617,P35250,P41227,Q14999,Q05639,P52788,O43175 9 |
| Abnormal cd4 cd8 ratio 0.6794458562196699 1.3197412155761368 0.1869214341571607 1.0 0.4492207547488864 4 O75083,O95394 2 |
| Abnormality of the endometrium 0.5340063951489988 1.3172930078913256 0.1877404280470862 1.0 0.4508932486670424 9 P20585,Q07864,P28340,P43246,Q15437 5 |
| Megaloblastic anemia 0.6127159309533193 1.3085142077052012 0.1906989587911494 1.0 0.4549503865523716 6 P11172,O43175,P00492 3 |
| Abnormal blood chloride concentration 0.622588674548862 1.30522516023791 0.191816189207497 1.0 0.456380846552476 2 Q9UNF1 1 |
| Keratosis pilaris 0.6758448997139843 1.3040451423373274 0.1922181912367224 1.0 0.4565586722637699 4 Q9UQ13 1 |
| Narrow iliac wing 0.6751823273530857 1.3011570125382197 0.1932047161203924 1.0 0.4580371347618734 4 P50542,Q9NR45 2 |
| Eczema 0.3309112758123742 1.295136554428514 0.1952731267504637 1.0 0.459449975357751 39 Q07864,Q96MG7,P42224,Q5F1R6,Q7Z2Z2,Q9UQ13,O95394,P40763,Q8TD19,P62070,O00192,Q08J23 12 |
| Abnormality of urinary uric acid concentration 0.6735296112408783 1.293952863227759 0.1956817030417705 1.0 0.4600334822170989 4 P00491,P00492 2 |
| Uric acid nephrolithiasis 0.7040149393090446 1.28944432562087 0.1972436598967215 1.0 0.4619372947689587 3 P07741,P00492 2 |
| Chronic mucocutaneous candidiasis 0.5816943580043554 1.2814520855294895 0.2000349193792345 1.0 0.463781124697576 7 O75083,O95394,P40763,P42224 4 |
| Brushfield spots 0.7013512609780481 1.2783468643055271 0.2011271505298311 1.0 0.4646127294722478 3 P50542 1 |
| Stomach cancer 0.4715574224190776 1.2771180676736216 0.2015605670392868 1.0 0.4646159112136057 11 P20585,Q6PD74,P60866,P10644,O43684 5 |
| Abnormal circulating porphyrin concentration 0.6694612829657738 1.2762195164540089 0.2018779314824574 1.0 0.4651129157289884 4 P50336 1 |
| Reticulocytosis 0.4630812944471076 1.2748189164648485 0.2023733436363777 1.0 0.4660194225500667 12 P08237,P00558,Q8NBF2,P11413,Q15437 5 |
| Exercise induced rhabdomyolysis 0.7001287701208238 1.2732539793898736 0.2029279314557883 1.0 0.4663175228442808 3 P04075 1 |
| Abnormal large intestine morphology 0.273392275407938 1.2630573770258229 0.2065685603263056 1.0 0.4707003435949866 84 P20585,P35250,Q15833,Q6PD74,Q15645,Q13546,Q15437,P42224,P62899,P62847,Q8NFG4,Q93074,Q07864,P62913,P12931,O43684,P42766,Q08J23,P62854,P41227,P62081,P10644,P60866,P43246,P62244 25 |
| Pleural effusion 0.4688228770161054 1.2597418664685758 0.2077624970773783 1.0 0.471392877950243 11 P14174,Q9NZ08,Q06124,Q02750,Q9UID3 5 |
| Osteosarcoma 0.3582256605400897 1.2593817040268516 0.2078924946608737 1.0 0.471392877950243 25 P42771,P61353,P62913,Q13126,P60866,P62899,P62854,P62081,P62847,P08708,P62244,P42766 12 |
| Male infertility 0.5757959875407799 1.2515423253069464 0.2107366816941398 1.0 0.4745208729181838 7 Q06124,P57076 2 |
| Abnormality of the cervical spine 0.2503297569711714 1.2457057123210926 0.2128724557387284 1.0 0.477214318382407 106 P37837,Q8TD19,Q9BW83,Q9C0B1,O43175,Q02750,P28482,Q00535,P62899,P07437,P62847,Q15555,O00192,Q93074,Q07864,Q9Y617,P62913,Q14999,Q9NR45,P42766,Q06124,O60826,O00232,P62854,P60866,P62081,Q9UQ13,P04075,P62244 29 |
| Brain neoplasm 0.63042193929096 1.242310510233641 0.2141220190060857 1.0 0.4777744884674874 5 Q6PD74,P28340,Q07864 3 |
| Abnormality of vitamin k metabolism 0.6303332295235138 1.2419037260626633 0.2142720851801092 1.0 0.4777744884674874 5 Q9UDY2,Q5F1R6,P61011,Q7Z2Z2 4 |
| Abnormality of vitamin a metabolism 0.6303332295235047 1.2419037260626218 0.2142720851801245 1.0 0.4777744884674874 5 Q9NSD9,Q5F1R6,P61011,Q7Z2Z2 4 |
| Abnormal morphology of the limbic system 0.5203358724594762 1.240212417032872 0.2148968368391242 1.0 0.4782441265931088 9 Q9BPU6,Q05639,Q9UID3 3 |
| Pituitary adenoma 0.4571725406591629 1.236285357652689 0.2163525118717668 1.0 0.4807716731968139 12 Q16658,P60866,P10644,P43246,O75874 5 |
| Limb fasciculations 0.6592549703133197 1.2317421075551234 0.2180454351537772 1.0 0.4831462236474833 4 P49773,Q16637 2 |
| Bone cyst 0.6898750351921557 1.2305491630021734 0.2184915287711113 1.0 0.4836439602967312 3 Q15437 1 |
| Bruising susceptibility 0.3529485042544598 1.2295993176948377 0.2188471856651088 1.0 0.4840740993026898 26 Q15833,Q13126,P10644,P40763,Q06124,Q02750 6 |
| Abnormality of the intervertebral disk 0.4627276245393885 1.2210147226937622 0.2220804454772778 1.0 0.4861402171451088 11 P57081,Q9UQ13,Q9NPF4 3 |
| Descending aortic dissection 0.6039203484754274 1.216852614034068 0.2236602975049255 1.0 0.4872980075762821 2 P31153 1 |
| Subarachnoid hemorrhage 0.6039203484754274 1.216852614034068 0.2236602975049255 1.0 0.4872980075762821 2 P31153 1 |
| Ascending aortic dissection 0.6039203484754274 1.216852614034068 0.2236602975049255 1.0 0.4872980075762821 2 P31153 1 |
| Large iliac wing 0.6039203484754244 1.2168526140340536 0.2236602975049311 1.0 0.4872980075762821 2 Q96L58 1 |
| Premature skin wrinkling 0.3778831021838664 1.215815256288075 0.2240553057658241 1.0 0.4876937155502771 21 Q93074,P36543,P41227,Q06124,Q02750 5 |
| Abnormal subarachnoid space morphology 0.3442444399088072 1.2139907402395822 0.2247512601496617 1.0 0.4885107038250612 29 O94903,Q93074,Q05639 3 |
| Shoulder girdle muscle atrophy 0.6547322540473213 1.2120423698008034 0.2254961622272864 1.0 0.4887353994978313 4 Q14331,P06753,P55072 3 |
| Subvalvular aortic stenosis 0.6228171290193459 1.2074477773797216 0.2272597452268629 1.0 0.4906964078563962 5 Q06124,O43684 2 |
| Abnormal left ventricular outflow tract morphology 0.6228171290193459 1.2074477773797216 0.2272597452268629 1.0 0.4906964078563962 5 Q06124,O43684 2 |
| Low posterior hairline 0.3231411829142035 1.2015685398592018 0.2295307365098091 1.0 0.4928089893291847 38 P28482,O60826,Q9H3P2,O75175,Q9UQ13,Q9NR45,P62070,P04075,Q06124,Q02750,Q9UID3 11 |
| Eeg with polyspike wave complexes 0.6213897751994859 1.2009070478813968 0.2297872600392003 1.0 0.4929108405008985 5 P04080 1 |
| Abnormal pleura morphology 0.368061997497068 1.193301388104321 0.2327513590591197 1.0 0.497617615649783 22 P22681,Q8NFG4,P36543,P14174,Q9NZ08,Q06124,Q02750,Q9UID3 8 |
| Acute myeloid leukemia 0.3232003729081471 1.1850399301780148 0.2360016596225487 1.0 0.5012841943004973 35 Q13951,P62263,P62899,P62847,P46777,P42771,P62913,Q5F1R6,Q7Z2Z2,Q13492,P42766,P61353,P62273,Q99961,P60866,P62854,P62081,P11766,P08708,P62244 20 |
| Abnormal renal vascular morphology 0.6786736513552495 1.1839406812576772 0.2364365449804744 1.0 0.5019746619162788 3 P42224 1 |
| Ileus 0.6478289680424214 1.1819914627291506 0.2372090883612001 1.0 0.5023802928084657 4 P08397 1 |
| Increased blood urea nitrogen 0.5961418792781674 1.1800813574180635 0.2379678584837159 1.0 0.5032034253761825 2 Q16658 1 |
| Cns demyelination 0.4221424613398578 1.178456203973704 0.2386147824559064 1.0 0.5033696237815589 15 Q13144,Q9NR50,P49770,Q14232,Q99700 5 |
| Axonal loss 0.5093300049023539 1.178189233764073 0.2387211737244912 1.0 0.5033696237815589 9 O95817,Q9NX46,Q92597 3 |
| Abnormality of the common coagulation pathway 0.4482499269679267 1.1781283875288526 0.2387454264621351 1.0 0.5033696237815589 12 Q15833,P10644,P34949,P40763,Q06124,Q02750 6 |
| Hypouricemia 0.6157703799514712 1.175167628885283 0.2399276583166818 1.0 0.5046982633067431 5 P60891,Q96EN8,P00491 3 |
| Exostoses 0.6461473482045488 1.1746752210921123 0.2401246764348381 1.0 0.5048803569381992 4 Q06124 1 |
| Triphalangeal thumb 0.3651296688570408 1.1680716399341584 0.2427778687658222 1.0 0.5078031467969054 22 P61353,P62273,P62913,P60866,P62854,P62899,P62081,P62847,P46777,P08708,P62244,P42766 12 |
| Olivopontocerebellar hypoplasia 0.6442868267623014 1.166582782965673 0.243378899601709 1.0 0.5086808185091046 4 Q99700 1 |
| Osteomyelitis 0.4374156831967617 1.1606446462721731 0.2457864411568213 1.0 0.5115845951054954 13 Q5F1R6,Q13126,O95394,P40763,P48643 5 |
| Non motor seizure 0.3119992459259296 1.157738978542901 0.2469705721403929 1.0 0.5133096234431317 45 Q9H7D7,Q93074,P04080,O94903,Q05639 5 |
| Paranoia 0.6119184407477682 1.1575360548773654 0.2470534175399015 1.0 0.5133096234431317 5 P08397,P50336 2 |
| Cubitus valgus 0.4007479538067749 1.1517064244388266 0.2494417314124397 1.0 0.516877653337237 17 P28482,O00232,Q9UQ13,Q06124,Q02750,P50542 6 |
| Elevated creatine kinase after exercise 0.6403335017925376 1.149395853497066 0.2503927890724169 1.0 0.516877653337237 4 P04075 1 |
| Coarctation of aorta 0.3107631364101808 1.1434637879001928 0.252846081385319 1.0 0.5203779549807714 45 P55263,P37837,P21359,Q15645,Q02750,P62899,P62847,Q93074,P62913,O43684,P42766,P61353,P62273,Q06124,P60866,P62854,P62081,P08708,P62244 19 |
| Inflammation of the large intestine 0.4500119342487025 1.1403002842841514 0.254161219426702 1.0 0.5209735130042399 11 Q15833,Q13546 2 |
| Abnormal pulmonary interstitial morphology 0.3304882898856556 1.1314815703981922 0.2578524560490847 1.0 0.525476405082642 31 Q96MG7,Q86TI2,Q15833,P21266,P14174,Q6NZY4,P40763,P57076 8 |
| Cholangitis 0.5836963285625467 1.1213621553201194 0.2621337382799387 1.0 0.5323026733352286 2 Q96J02 1 |
| Abnormality of immune serum protein physiology 0.5245554670137009 1.1199097999164276 0.2627522017367338 1.0 0.5326784188445659 8 Q15833,Q9Y3Z3 2 |
| Csf pleocytosis 0.6036669331426954 1.1198084267923485 0.2627954075234515 1.0 0.5326784188445659 5 Q15833 1 |
| Cutaneous photosensitivity 0.3521652828552963 1.1185843233471198 0.2633175144326043 1.0 0.5328955382670364 23 Q9Y3Z3,P04080,P12004,P50336,Q08J23 5 |
| Abnormal neutrophil count 0.2782909191864641 1.1172420059939483 0.2638908645249687 1.0 0.5333894785422407 69 P22681,Q15833,P42224,Q96BN8,P62899,Q9NZC9,P40763,P62847,P48637,Q96EY8,P62913,O00203,Q5F1R6,Q7Z2Z2,O95394,Q96J02,P42766,P61353,O95551,O75083,P60866,P62854,P62081,P10644,P26639,P08708,P62244,P00491 28 |
| Abnormal serum interferon level 0.572466266049007 1.1139412708117822 0.2653043825253169 1.0 0.5351749040261359 6 Q15833,Q9Y3Z3 2 |
| Inguinal freckling 0.581829495955202 1.1125699793994728 0.2658931597196621 1.0 0.5352623412672926 2 P21359 1 |
| Hematological neoplasm 0.2624727776651167 1.108281737806572 0.2677401598947235 1.0 0.5364466216791538 86 P22681,Q6PD74,P22314,Q15645,Q13951,P21359,Q02750,O76094,P62899,P62263,Q9NZC9,P62847,P40763,P46777,P42771,Q07864,Q9Y3Z3,P62913,Q5F1R6,Q7Z2Z2,Q9NPE3,Q9NX24,Q9NVI1,O95394,P52701,O43684,P42766,Q08J23,P61353,P62273,Q06124,Q9BUR4,Q99961,P62854,P60866,P62081,P33991,P11766,P08708,P43246,P62244,P00491 42 |
| Abnormality of blood volume homeostasis 0.6601359080456262 1.106985953428775 0.2683000014368282 1.0 0.5364466216791538 3 P40763 1 |
| Abnormality of neutrophil physiology 0.6007474307069413 1.1064762787646794 0.2685204257481719 1.0 0.5364466216791538 5 Q7Z2Z2,Q5F1R6,P61011,Q9Y3A5 4 |
| Enlarged thorax 0.3775503614442812 1.1053094021077925 0.2690255452845544 1.0 0.5364466216791538 19 P28482,P41227,Q14999,P62070,Q06124,Q02750 6 |
| Nemaline bodies 0.5802738021157496 1.1052468283481205 0.2690526507343476 1.0 0.5364466216791538 2 P06753 1 |
| Aplasia of the semicircular canal 0.6004695824195538 1.10520796633242 0.2690694857698403 1.0 0.5364466216791538 5 Q06124,P62070 2 |
| Proximal femoral epiphysiolysis 0.6301369863013684 1.105129450406268 0.2691035010961058 1.0 0.5364466216791538 4 Q5F1R6,P61011,Q7Z2Z2 3 |
| Deformed rib cage 0.6301369863013684 1.105129450406268 0.2691035010961058 1.0 0.5364466216791538 4 Q5F1R6,P61011,Q7Z2Z2 3 |
| Abnormality of vitamin e metabolism 0.6301369863013684 1.105129450406268 0.2691035010961058 1.0 0.5364466216791538 4 Q5F1R6,P61011,Q7Z2Z2 3 |
| Lower limb metaphyseal irregularity 0.6301369863013684 1.105129450406268 0.2691035010961058 1.0 0.5364466216791538 4 P26373,Q5F1R6,P61011 3 |
| Reduction of neutrophil motility 0.6301369863013684 1.105129450406268 0.2691035010961058 1.0 0.5364466216791538 4 Q5F1R6,P61011,Q7Z2Z2 3 |
| Decreased cd4 cd8 ratio 0.577162414436845 1.0906111398219474 0.2754440256976869 1.0 0.5431642111579494 2 O00203 1 |
| Acute phase response 0.3393963699575538 1.0862382117121834 0.2773736155909692 1.0 0.5461236532049717 25 P28070,Q15833,Q969U7,Q96BN8,P14174,P10644,P22314 7 |
| Thyroid adenoma 0.5957317428217489 1.0835954338159826 0.2785442162959071 1.0 0.547859557955504 5 P10644 1 |
| Thrombocytosis 0.3250127327336527 1.0771231754404582 0.2814252406995412 1.0 0.5517765380633082 31 P61353,P62273,P62913,P60866,Q15477,P62899,P62263,P62854,P62081,P62847,P08708,P11586,P08865,P62244,P42766 15 |
| Large for gestational age 0.5153770172699493 1.0711316426972308 0.2841102422218893 1.0 0.5547492170851157 8 Q9UKG1 1 |
| Osteomalacia 0.6181408261684653 1.053199792737936 0.2922494334543957 1.0 0.5654780477527478 4 O43175,Q9Y617 2 |
| Multiple cafe au lait spots 0.421245528656437 1.052720050959851 0.2924693161817426 1.0 0.5655149087422782 13 P52701,P21359,Q15645,O43684,P43246,Q02750,Q15437 7 |
| Abnormal t cell morphology 0.4126221139845284 1.0497629946067049 0.2938270929247046 1.0 0.566504681974921 14 Q96MG7,O75083,Q96BN8,O95394,Q9NZC9,P00491,Q13546 7 |
| Dilation of virchow robin spaces 0.5684505289359121 1.049715919539665 0.2938487422801439 1.0 0.566504681974921 2 P27635 1 |
| Sarcoma 0.2770884176175028 1.0488517569743063 0.2942463521385821 1.0 0.5669778619508781 64 Q15645,Q02750,Q15437,Q96JJ3,P62899,P62847,P42771,Q8NFG4,P62913,Q13126,P52701,P12931,O43684,O75874,P42766,P61353,Q06124,P60866,P62854,P62081,P10644,P08708,P43246,P62244 24 |
| Panniculitis 0.4859176350449977 1.0466813031192033 0.2952465897781264 1.0 0.5677172051590553 9 P28070,Q96BN8,Q9Y3Z3 3 |
| Diaphragmatic weakness 0.6142945868393224 1.0365925284984192 0.2999257968090774 1.0 0.5714414936233969 4 P60174 1 |
| Diaphragmatic paralysis 0.6142945868393224 1.0365925284984192 0.2999257968090774 1.0 0.5714414936233969 4 P60174 1 |
| Abnormality of small intestinal villus morphology 0.5558375200008273 1.0339869093431413 0.301142283074765 1.0 0.5723581604718299 6 P42224,P34949 2 |
| Spinal muscular atrophy 0.4326941224350963 1.0307835553075495 0.3026423315712148 1.0 0.5744925654534979 11 Q15813,Q15650,Q99986,Q16637 4 |
| Erythrocyte inclusion bodies 0.6111457036114556 1.023014021386455 0.3063012163725547 1.0 0.5797527370761688 4 P08865,P11413,O14936 3 |
| Abnormal proportion of cd8 positive t cells 0.5822639843201122 1.0223381151398063 0.3066208993649346 1.0 0.5801176038895349 5 O95394 1 |
| Cleft soft palate 0.2776955094487386 1.0212520005428398 0.3071350612135175 1.0 0.5808499647525811 58 Q9Y617,P52788,O43929,P62913,Q92796,P60866,P62899,P62854,P62081,P62266,P62847,Q9C0B1,P36871,O43175,P42766 15 |
| Mixed demyelinating and axonal polyneuropathy 0.5606720597386493 1.0133258800019542 0.3109045298548603 1.0 0.5845925980940215 2 P00403 1 |
| Abnormality of skin physiology 0.2519637377435524 1.0097630865249123 0.3126088093885559 1.0 0.5867938068682378 92 P22681,Q15833,O95340,Q8TD19,P22314,P11586,Q13546,P06132,P28070,P42224,Q15126,Q96BN8,P00338,P14174,P14324,P40763,O00192,Q07864,Q9Y3Z3,Q96MG7,Q5F1R6,O00203,Q7Z2Z2,Q9NZ08,O95394,Q9H4L7,Q08J23,O75083,Q9UQ13,P26639,P62070 31 |
| Neoplasm of the skeletal system 0.3013234787657131 1.0088809416722686 0.3130317363340467 1.0 0.5867938068682378 43 Q6PD74,Q16658,P62899,P62847,P42771,Q9Y3Z3,P62913,Q13126,P52701,O75874,P42766,P61353,Q06124,P60866,P62854,P62081,P10644,P08708,P43246,P62244 20 |
| Abnormality of the intrinsic pathway 0.4221126120953762 1.0084976207202456 0.3132156293673016 1.0 0.5867938068682378 12 Q06124,P36543,P34949,P36871,Q02750 5 |
| B lymphocytopenia 0.5787873642346181 1.0065759856928742 0.3141385794248132 1.0 0.58729138918234 5 P42224,Q13546 2 |
| Preaxial polydactyly 0.4217182708324298 1.0059525234747675 0.3144384086128693 1.0 0.5873714612870559 12 Q9H3P2,Q2VPK5 2 |
| Intestinal polyp 0.3460877656952077 1.0051339661274117 0.3148323465974649 1.0 0.5878670981605443 22 P42771,Q8NFG4,P20585,Q07864,Q16658,P28340,Q15645,O43684,P43246,Q15437 10 |
| Abnormal c reactive protein level 0.5266144155370113 1.003174420300662 0.3157767126241626 1.0 0.588908752919236 7 Q96BN8 1 |
| Neoplasm of the rectum 0.3800368322128614 0.9966674829291874 0.3189259382451535 1.0 0.591884069719284 17 P42771,P20585,Q07864,Q16658,P60866,P28340,P43246,Q15437 8 |
| Segmental peripheral demyelination remyelination 0.6325527630498482 0.9932076464533184 0.3206087727722053 1.0 0.5938017424399313 3 Q92597 1 |
| Deep venous thrombosis 0.5550715619166222 0.9872098253009391 0.3235397861027722 1.0 0.5956102949157427 2 P22314 1 |
| Hypomethioninemia 0.5550715619166204 0.9872098253009316 0.323539786102776 1.0 0.5956102949157427 2 Q99707 1 |
| Hyperextensible skin 0.4027952484964806 0.982691412400624 0.3257593385275366 1.0 0.5973905442364416 14 Q06124,Q9UQ13 2 |
| Enlargement of the costochondral junction 0.6299408652349823 0.9824973290767856 0.3258548981498186 1.0 0.5973905442364416 3 Q5F1R6,P61011 2 |
| Abnormality of the costochondral junction 0.6299408652349823 0.9824973290767856 0.3258548981498186 1.0 0.5973905442364416 3 Q5F1R6,P61011 2 |
| Proximal femoral metaphyseal irregularity 0.6299408652349823 0.9824973290767856 0.3258548981498186 1.0 0.5973905442364416 3 Q5F1R6,P61011 2 |
| Underdeveloped nasal alae 0.3243215492909205 0.9815628565971204 0.3263152537670009 1.0 0.5973905442364416 27 P28482,P46109,P41227,P63241,O94992,Q08J23 6 |
| Abnormality of the anterior fontanelle 0.3149165187386773 0.9775718072872964 0.3282861467341238 1.0 0.5985333507748989 31 O75718,Q93074,Q96MG7,P36543,P37837,Q15813,P40855,P50542,Q08J23 9 |
| Abnormality of amino acid metabolism 0.5528935905413889 0.9770748683832546 0.3285320886226692 1.0 0.5985333507748989 2 P18074 1 |
| Flat nasal alae 0.5528935905413889 0.9770748683832546 0.3285320886226692 1.0 0.5985333507748989 2 P18074 1 |
| Prominent nasal tip 0.5999998362641386 0.9750965559176176 0.3295123668640247 1.0 0.5996285775335122 4 Q9H7D7,Q8NFG4 2 |
| Unconjugated hyperbilirubinemia 0.6277622159975156 0.9735738013644936 0.3302681997504706 1.0 0.6000196903814851 3 P11413,Q9NSD9 2 |
| Triangular face 0.2946196143377468 0.9730482285767734 0.3305293328332048 1.0 0.6000196903814851 46 O60828,Q8NFG4,Q93074,P36543,P37837,O00232,Q14999,Q15645,O43684,P40855,Q06124,Q02750,P62070 13 |
| Thenar muscle atrophy 0.5989435483595451 0.9705684288878624 0.3317632338457525 1.0 0.6008279484583736 4 P41250 1 |
| Broad neck 0.4155661664722068 0.966324774560895 0.3338816928893668 1.0 0.6039466633151152 12 Q93074,Q07864,O60826,O00232,Q15555 5 |
| Narrow palm 0.6240361302340358 0.9583347388081476 0.3378939919340229 1.0 0.609035267007263 3 P52788 1 |
| Increased circulating igm level 0.4697535858004352 0.9565670492614246 0.3387858269549011 1.0 0.6092482683882259 9 O95394,Q96BN8 2 |
| Soft tissue sarcoma 0.3001828436214275 0.9492039274479874 0.3425169044506393 1.0 0.6136989316195354 37 Q8NFG4,Q13126,P10644,P12931,O43684,P43246,Q06124,Q02750,Q15437 9 |
| Myelodysplasia 0.2917400180413837 0.94015288876733 0.3471391431524737 1.0 0.6176617451732026 46 P22314,P21359,Q15645,O76094,P62263,P62899,P62847,P46777,P42771,P62913,Q5F1R6,Q7Z2Z2,Q9NVI1,O43684,P42766,P61353,P62273,Q06124,P60866,P62854,P62081,P11766,P08708,P62244 24 |
| Increased circulating antibody level 0.3791055420385421 0.9360869065416662 0.349228443895532 1.0 0.6199313464258162 16 P40763,O95394,Q96BN8,Q96MG7 4 |
| Abnormal sputum 0.5119062265016215 0.9297500649035696 0.3525005061987758 1.0 0.6238017088016277 7 Q9NZ08,P57076,P31153 3 |
| Abnormal natural killer cell physiology 0.6168206593113335 0.928911930391443 0.3529347296191094 1.0 0.6243284245700267 3 Q15833 1 |
| Glioblastoma multiforme 0.4879263602763557 0.9263456938260116 0.3542663565577424 1.0 0.6258174586936035 8 P42771,Q16658,P60866,P43246,O75874 5 |
| Acne 0.4092678321462744 0.9259278775666488 0.354483462563139 1.0 0.6258174586936035 12 O95340,O00192 2 |
| Very long chain fatty acid accumulation 0.5879935831720278 0.9237801604553404 0.3556007866412929 1.0 0.6263781101107322 4 P50542 1 |
| Focal emotional seizure 0.4867349003285875 0.9201126737012064 0.3575138820912444 1.0 0.6282117339065726 8 O43175,Q05639 2 |
| Generalized hyperreflexia 0.5868947448848181 0.91910145603379 0.3580425077589422 1.0 0.6287408002174893 4 P26639,P13639 2 |
| Oculogyric crisis 0.4385197681461096 0.9156946975331224 0.3598270469185487 1.0 0.6313894170689774 10 P35270,Q05639 2 |
| Abnormal greater sciatic notch morphology 0.5855052156742538 0.9131896769844744 0.3611427922343737 1.0 0.6328255186368745 4 Q5F1R6,P61011 2 |
| Abdominal wall muscle weakness 0.5850331121586038 0.9111823037508286 0.3621993265067793 1.0 0.6336127963507484 4 Q14331,P21359 2 |
| Nonprogressive 0.557072545951319 0.9087508470450464 0.3634816575714961 1.0 0.6350579948732297 5 Q9BUF5,Q69YN2 2 |
| Abnormal cell morphology 0.5568819986871992 0.9078980158475968 0.3639321060209113 1.0 0.6350579948732297 5 Q6NZY4 1 |
| Decreased fertility in males 0.4370779676241553 0.9072594034923498 0.3642696368038045 1.0 0.6350579948732297 10 Q06124,P57076 2 |
| Abnormally large globe 0.5073566420775265 0.9071724125630884 0.3643156299388526 1.0 0.6350579948732297 7 Q96BT7 1 |
| Abnormal circulating serine concentration 0.6100877190775096 0.901570738752314 0.3672849407735103 1.0 0.6381069799603634 3 Q9Y617 1 |
| Chylothorax 0.5515009257402974 0.8838608313940834 0.3767713434672437 1.0 0.6489155278782106 5 Q06124,Q02750 2 |
| Normocytic anemia 0.4323561070665465 0.8797047174429506 0.3790192931483702 1.0 0.6508648588298477 10 P62273,Q5F1R6,Q7Z2Z2,P60174,P04075 5 |
| Dyslexia 0.523268122675585 0.8791368891136946 0.3793270583948183 1.0 0.6508648588298477 6 P46821,Q96T60,P55072 3 |
| Abnormal spinal meningeal morphology 0.6041083099906572 0.8773914756135875 0.3802740416401793 1.0 0.6522448946856508 3 P31153,P21359 2 |
| Freckling 0.4012068485747491 0.8745319843649857 0.3818286098302261 1.0 0.6536848597505481 12 P10644,P42771,P52701,Q06124 4 |
| Thyroiditis 0.4777894300130845 0.8734927929986763 0.3823945327961047 1.0 0.6541565050470571 8 P42224,Q15437 2 |
| Radial deviation of the hand or of fingers of the hand 0.3699597364344325 0.8705926342811187 0.3839766196701315 1.0 0.6556433053837023 16 Q06124,Q93074,P41227 3 |
| Papule 0.3554262719561865 0.8696456899574834 0.3844940605409039 1.0 0.6559487337667733 18 Q8NFG4,Q6PD74,P00338,P40763,Q15437 5 |
| Genetic anticipation 0.6020056471616986 0.868913306625818 0.384894550731313 1.0 0.6560877909690945 3 Q99700 1 |
| Cholecystitis 0.4301363662695014 0.8667911152579428 0.386056471057449 1.0 0.6569859006714814 10 P60174 1 |
| Reticular hyperpigmentation 0.528624766645933 0.8651296820479951 0.3869676149190324 1.0 0.6572825685628428 2 Q9H488 1 |
| Emg axonal abnormality 0.6008723148880619 0.8643491021040555 0.3873961440392075 1.0 0.6572825685628428 3 Q9Y223 1 |
| Visual fixation instability 0.6007026754292221 0.86366626051982 0.3877712531318309 1.0 0.6572825685628428 3 O94992 1 |
| Agyria 0.6005349137487674 0.8629910645442898 0.3881423798028294 1.0 0.6572825685628428 3 Q00535 1 |
| Agnosia 0.4983714047877888 0.8628064088032353 0.3882439149244532 1.0 0.6572825685628428 7 P43246,Q16658,P60866 3 |
| Abnormality of coagulation 0.26563447862224 0.8615713682646234 0.3889234323409467 1.0 0.6577021861747938 57 P22681,Q06124,Q15833,P36543,Q7Z2Z2,O75648,Q9NPE3,P10644,Q9UQ13,P40763,P34949,P62070,P40855,P36871,Q02750,P50542,O75874,P23526 18 |
| Atelectasis 0.3907281105540152 0.8516874146389736 0.394387607632543 1.0 0.6625305970188733 13 P40763,Q8NBF2,P57076 3 |
| Overlapping fingers 0.4734190992657555 0.8508418742561993 0.3948571970912673 1.0 0.6630757707215955 8 Q2VPK5,Q8TD19 2 |
| Depressed nasal ridge 0.3336546636797229 0.8493374061677381 0.3956935721172083 1.0 0.6635052524386498 21 Q9Y617,P10644,O75175,O43684,Q15645,Q06124 6 |
| Abnormal b cell morphology 0.4716939622874808 0.8419255511778202 0.3998296271393564 1.0 0.6675976011821428 8 P42224,Q13546 2 |
| Autoimmune thrombocytopenia 0.4255987976254958 0.8404792785562171 0.4006397150637646 1.0 0.6678330019291452 10 P42224,P40763,Q92888 3 |
| Autoimmune hemolytic anemia 0.4485021711371151 0.8395521371377611 0.4011595449161063 1.0 0.6678330019291452 9 P42224,Q969U7,P40763 3 |
| Primary gonadal insufficiency 0.4708710990055431 0.837677772941716 0.4022117000708989 1.0 0.6687921720713274 8 Q14232,Q9NR50,Q13144 3 |
| Skin appendage neoplasm 0.5137417929328243 0.8344930255504299 0.4040032159058007 1.0 0.6707950235762495 6 Q8NFG4,Q15437 2 |
| Increased hepatic glycogen content 0.5656555054127483 0.8293766035850617 0.4068913362874298 1.0 0.6738769196267542 4 P36871,Q93100 2 |
| Impaired horizontal smooth pursuit 0.5644780476624082 0.824446777573563 0.4096857450514393 1.0 0.6769255826151354 4 Q99700 1 |
| Abnormal pulmonary valve morphology 0.3566112227088725 0.824300598504353 0.4097687786252635 1.0 0.6769255826151354 17 P10644,Q06124,O00192,P62070 4 |
| Anemia of inadequate production 0.2599153089187404 0.8239542108776332 0.4099655758952671 1.0 0.6770060142403418 65 P22314,P11586,O43175,Q13546,Q15437,Q96JJ3,Q9Y285,P62263,P62899,P60174,P62847,P46777,P11172,P62913,Q5F1R6,Q7Z2Z2,P42766,P61353,P62273,P00492,P60866,P62854,P62081,P08708,P04075,P62244,Q9UER7 27 |
| Exercise induced myoglobinuria 0.5605963618753879 0.8082320438220495 0.4189570143525563 1.0 0.6876310637721847 4 P08237,P00338 2 |
| Abnormal pulmonary thoracic imaging finding 0.3283198474525385 0.8063005351370791 0.4200695820243076 1.0 0.6887152293519047 21 Q86TI2,Q8NBF2,P40763,O00192,P57076 5 |
| Protrusio acetabuli 0.5854772338128348 0.8027662298761746 0.4221098644259493 1.0 0.6900388335625893 3 O75718 1 |
| Rhinitis 0.506245511789902 0.799634646887009 0.4239225075214086 1.0 0.6915595224412415 6 P57076 1 |
| Shield chest 0.5310252569229044 0.793349073198121 0.4275744730399518 1.0 0.695594074820549 5 Q06124 1 |
| Recurrent skin infections 0.3814969406566985 0.7920250893244396 0.4283460471849976 1.0 0.6965385206981942 13 O75083,P42224,O00203,O95394,P40763,P61011,P06132 7 |
| Subcutaneous hemorrhage 0.2853481158756464 0.7906559722291672 0.4291447748600159 1.0 0.6975891770573018 35 Q15833,Q13126,P10644,P40763,O00192,Q06124,Q02750 7 |
| Abnormal circulating glycine concentration 0.3935175853228705 0.7873271535373477 0.4310903781888946 1.0 0.6982686458899494 11 Q96EY8,Q9Y617,Q9Y697 3 |
| Minicore myopathy 0.5804544039838254 0.7828586669314039 0.4337101118950395 1.0 0.700278672367441 3 Q15650,P51114 2 |
| Decreased muscle mass 0.3649328586303516 0.7789124250219767 0.4360313042201409 1.0 0.7025375719387608 15 Q06210,P36543,Q9Y285,P04075,P52788 5 |
| Increased urine proteinogenic amino acid derivative level 0.5776340532724202 0.7717242772840772 0.4402777486918605 1.0 0.7068878079629415 3 P48637 1 |
| Colitis 0.4347886458343076 0.7653039637723843 0.4440905642871811 1.0 0.7097685207540926 9 Q15833,P42224 2 |
| Everted upper lip vermilion 0.4968144969768414 0.7561691977111149 0.4495477580263269 1.0 0.715737653061073 6 Q9H7D7,P41227 2 |
| Bilateral talipes equinovarus 0.5219656253632365 0.7538740778317793 0.450924837307519 1.0 0.7169429813539997 5 Q2VPK5,Q9Y617 2 |
| Metaphyseal striations 0.4961698274992368 0.7532153214045404 0.4513205338809758 1.0 0.7170615781612584 6 Q13126 1 |
| Lymphopenia 0.3004268782416307 0.7496220241387341 0.4534823823785894 1.0 0.7197458228654625 26 P28070,P00491,Q96MG7,P42224,O75083,P31146,Q15477,P29144,Q9NZC9,O95394,P61011,P62070,P11586,Q13546,Q9NRZ9 15 |
| Abnormal pancreas size 0.4526354545786891 0.7445097637662398 0.4565681365471876 1.0 0.7223902994641241 8 Q9UKG1,P40763,Q5F1R6 3 |
| Recurrent fever 0.3514954820914081 0.7406802374686298 0.4588873447122392 1.0 0.7245176666432224 16 P28070,Q15833,O75083,Q96BN8,Q13546 5 |
| Cavernous hemangioma 0.4514783695469835 0.7386679085981293 0.4601086771161897 1.0 0.7247266585451769 8 Q15437 1 |
| Abnormal erythrocyte sedimentation rate 0.4724111658639079 0.7367382400533101 0.4612815473236069 1.0 0.7260736752121927 7 P28070,P22314,P14174 3 |
| Esophagitis 0.4720822008242779 0.7351650001305029 0.4622390118034314 1.0 0.7268299012567888 7 Q7Z392,P62913,O95394,O43175,Q9NQX3 5 |
| Excessive wrinkled skin 0.3847498010792821 0.7342347391320966 0.4628056844940169 1.0 0.7273388761413295 11 Q06124,Q02750 2 |
| Abnormal thyroid stimulating hormone level 0.5674807271294251 0.7319208225214718 0.4642168960838821 1.0 0.7286866181316709 3 P10644 1 |
| Lymphedema 0.3362527028886294 0.7274583885177662 0.4669451973184821 1.0 0.7314621305492742 18 P28482,Q00535,P62070,Q06124,Q02750 5 |
| Contractures of the large joints 0.564553171271148 0.7205308804726445 0.4711981935899105 1.0 0.7363579291964039 3 P50542 1 |
| Mucosal telangiectasiae 0.4259988064295467 0.7183897099710306 0.4725170297356384 1.0 0.7379143638269913 9 Q15437 1 |
| Abnormal circulating amylase level 0.4868385665968477 0.7107303427866759 0.477251353039301 1.0 0.7435296301099675 6 Q9Y697,Q5F1R6,P61011,Q7Z2Z2 4 |
| Abnormality of the pubic bone 0.4664553581796745 0.7083650377693951 0.4787185981295296 1.0 0.7450536983486824 7 Q14999 1 |
| Spina bifida 0.2860062188997582 0.7009842887905959 0.4833128201673244 1.0 0.7488891189779119 31 Q9Y617,P35250,Q14999,Q8TD19,Q06124,O00192,Q08J23 7 |
| Long toe 0.3787268187025313 0.698181933556523 0.4850634234022308 1.0 0.750368687541814 11 P52788 1 |
| Aplasia hypoplasia of the pubic bone 0.5090050052468589 0.6981418525727102 0.4850884864769329 1.0 0.750368687541814 5 Q14999 1 |
| Deviation of the 2nd finger 0.5335074329629512 0.696912922793873 0.4858572899367015 1.0 0.7507956971942741 4 Q93074 1 |
| Periorbital fullness 0.3143747219783456 0.6958523130548256 0.486521324031127 1.0 0.7513710357042169 21 Q93074,P31150,P57081,Q92796,P62266,P07437 6 |
| Abnormality of the neck 0.2087288051783939 0.6949794412701055 0.4870681855947665 1.0 0.7516504646703841 172 P35250,P36543,P37837,Q8TD19,Q9BW83,Q9C0B1,O43175,Q02750,Q9UID3,P28482,P04350,Q00535,P62899,P07437,P62847,Q15555,O00192,Q93074,Q07864,Q9Y617,P46109,P62913,Q14999,O75175,Q9NR45,P52788,P50542,P42766,Q06124,O60826,P40855,O00232,P62854,P41227,P62081,Q9H3P2,Q9UQ13,P60866,P62070,P04075,P62244 41 |
| Abnormality of neutrophils 0.2342905577819296 0.6945242864608777 0.4873534755836628 1.0 0.7517594704827398 89 P22681,Q15833,O95817,P42224,Q96BN8,P62899,Q9NZC9,P62847,P40763,P48637,Q96EY8,P62913,Q5F1R6,O00203,Q7Z2Z2,Q9NPE3,O95394,Q96J02,P42766,Q08J23,O95551,P61353,Q9BUR4,O75083,P62854,P60866,P62081,P10644,P26639,P08708,P62244,P00491 32 |
| Morphological abnormality of the vestibule of the inner ear 0.4832070952608681 0.694342017290294 0.4874677467755066 1.0 0.7517594704827398 6 Q06124,P62070 2 |
| Neoplasm of fatty tissue 0.4208969153385131 0.6914407744708365 0.489288587671945 1.0 0.7537125688037251 9 Q8NFG4,P53680,Q15437 3 |
| Abnormal cerebral artery morphology 0.358357846592428 0.6873375176296169 0.4918700617704559 1.0 0.7552207242543907 14 Q9Y3Z3,P31153,P42224,Q9NSD9,P10644,Q9NZC9 6 |
| Hyperhomocystinemia 0.5552443199502136 0.6845946194773602 0.4935997632509463 1.0 0.7552207242543907 3 Q99707,P23526 2 |
| Decreased methylcobalamin 0.5552443199502104 0.6845946194773483 0.4935997632509539 1.0 0.7552207242543907 3 P11586,Q99707 2 |
| External ear malformation 0.3505820046377824 0.6827487663433791 0.4947656088429317 1.0 0.7552207242543907 15 P41227,P07437,Q15555,P40855,P50542 5 |
| Hodgkin lymphoma 0.4190135498363062 0.681549265218686 0.4955240050846212 1.0 0.7552207242543907 9 Q6PD74,O95394,P40763,Q07864 4 |
| Hammertoe 0.3428251068133262 0.681075549297062 0.4958236874599151 1.0 0.7552207242543907 16 Q8N0X7,Q92597,Q9UHD1,O00764,P41250 5 |
| Hypoplastic pelvis 0.5532752642542087 0.677050830384587 0.4983737042634655 1.0 0.7552207242543907 3 Q14999 1 |
| Abnormality of dna repair 0.5530656707127312 0.6762490759921045 0.4988825186924295 1.0 0.7552207242543907 3 P18074,P26639 2 |
| Numerous pigmented freckles 0.5530656707127312 0.6762490759921045 0.4988825186924295 1.0 0.7552207242543907 3 P18074,P26639 2 |
| Increased mean corpuscular hemoglobin concentration 0.5530656707127312 0.6762490759921045 0.4988825186924295 1.0 0.7552207242543907 3 P18074,P26639 2 |
| Defective dna repair after ultraviolet radiation damage 0.5530656707127312 0.6762490759921045 0.4988825186924295 1.0 0.7552207242543907 3 P18074,P26639 2 |
| Tiger tail banding 0.5530656707127312 0.6762490759921045 0.4988825186924295 1.0 0.7552207242543907 3 P18074,P26639 2 |
| Abnormal mean corpuscular hemoglobin concentration 0.5530656707127312 0.6762490759921045 0.4988825186924295 1.0 0.7552207242543907 3 P18074,P26639 2 |
| Low set nipples 0.5530656707127312 0.6762490759921045 0.4988825186924295 1.0 0.7552207242543907 3 P18074,P26639 2 |
| Concave nail 0.5530656707127312 0.6762490759921045 0.4988825186924295 1.0 0.7552207242543907 3 P18074,P26639 2 |
| Lissencephaly 0.2582788260576465 0.6760858036279151 0.4989861694549664 1.0 0.7552207242543907 53 Q9H7D7,Q9C0B1,Q9Y617,P57081,Q9NPF4,Q2VPK5,Q6UVJ0 7 |
| Aplasia hypoplasia of the abdominal wall musculature 0.459456806788193 0.6753394444167897 0.4994601289479377 1.0 0.7552207242543907 7 Q06124,P62070 2 |
| Retinal telangiectasia 0.5032916121152872 0.6738847254891269 0.5003846038018609 1.0 0.7554377030367989 5 P12004 1 |
| Abnormal lymphocyte morphology 0.2760662174788515 0.6728795795715046 0.501023904464508 1.0 0.7554377030367989 34 P28070,P00491,Q96MG7,P42224,O75083,Q96BN8,O00203,P31146,Q15477,P33991,Q9NZC9,O95394,P62070,Q13546 14 |
| Paresthesia 0.316350287905717 0.6704711587815232 0.5025574860001156 1.0 0.7561521621153814 20 P49773,Q16658,P43246,P60866,Q9NZ08,P52701,P55072,P08397 8 |
| Anteverted ears 0.5511981588353478 0.6691159518522274 0.5034215150050712 1.0 0.7572029434314512 3 O15347 1 |
| Thick vermilion border 0.2348740510153101 0.664037513884268 0.5066663013527095 1.0 0.7608316897119695 84 Q9H7D7,P22681,P35250,Q96PZ0,O43175,Q9UID3,Q99622,P31150,Q92796,O60701,Q93074,Q9Y617,Q14999,Q9NR45,P52788,Q08J23,O43929,P41227,P62081,Q9UQ13,P62266,P62070,Q06124 23 |
| Aqueductal stenosis 0.3942642620096896 0.6628532086632288 0.5074245719505726 1.0 0.7613715776750903 10 P57081,Q9NPF4 2 |
| Fair hair 0.4996632190506065 0.6585879057652942 0.5101604312991275 1.0 0.7650732714791049 5 P10644 1 |
| Hypergalactosemia 0.5471713346589783 0.6538016239143295 0.5132396201358838 1.0 0.7683447453730315 3 Q96C23 1 |
| Abnormal granulocyte count 0.2402060804099105 0.6441289479095201 0.5194918202714496 1.0 0.7735549793128456 74 P22681,Q15833,P42224,Q96BN8,P62899,Q9NZC9,P40763,P62847,P48637,Q96EY8,P62913,O00203,Q5F1R6,Q7Z2Z2,O95394,Q96J02,P42766,P61353,O95551,O75083,P60866,P62854,P10644,P62081,P26639,P08708,P62244,P00491 28 |
| Milia 0.5432565261204205 0.6390033631135734 0.5228207440507717 1.0 0.7763796797082303 3 P50336 1 |
| Renal agenesis 0.2609133634210104 0.6387770765878145 0.5229679629072184 1.0 0.7763796797082303 49 P62081,P10644,Q2VPK5,P62847,Q6UVJ0,Q06124,P42766 7 |
| Lipoma 0.4942742355200391 0.6360328061029378 0.5247550397024421 1.0 0.7775933816058039 5 Q15437 1 |
| Esophageal stricture 0.518037686341005 0.6350860935095507 0.5253722663370108 1.0 0.7775933816058039 4 O95394 1 |
| Amblyopia 0.3164270841366771 0.6345989549971376 0.5256900098926185 1.0 0.7775933816058039 19 Q9H7D7,P10412,P62070 3 |
| Widened cerebral subarachnoid space 0.4763534536403352 0.6334796648573355 0.5264204561453445 1.0 0.7775933816058039 2 P00403 1 |
| Difficulty standing 0.5403096306816413 0.62792465279084 0.5300533003239307 1.0 0.7810682255901636 3 P52788 1 |
| Abnormal anterior horn cell morphology 0.4677005989056974 0.6254022722095176 0.5317070712159278 1.0 0.7830003294226823 6 Q99986 1 |
| Lacrimal duct atresia 0.4732420659614258 0.6202668435295093 0.5350821202519624 1.0 0.7860744574055671 2 Q9NX14 1 |
| Tetany 0.4904454174843408 0.6201328002696408 0.5351703591000054 1.0 0.7860744574055671 5 O00192 1 |
| Dental malocclusion 0.2934373009751653 0.6190742217902552 0.5358674644820267 1.0 0.7864481207741746 23 P10644,Q8NFG4,Q02750,Q06124 4 |
| Panhypogammaglobulinemia 0.4896499717884917 0.6168430758382498 0.5373382364432304 1.0 0.787606644282623 5 P26639,Q15477 2 |
| Small for gestational age 0.2306525582131774 0.6167196941020247 0.5374196288596589 1.0 0.787606644282623 86 Q9UET6,P37837,Q9NSD9,Q15477,O75648,P31150,Q92796,P62899,Q9NZC9,P62847,P35270,P41091,Q93074,Q8NFG4,Q96MG7,P62913,Q5F1R6,Q14999,P42766,Q08J23,O60828,P61353,Q9Y2Z2,P62273,P62854,P60866,P62081,P10644,P51570,P08708,P62244 31 |
| Vaginal neoplasm 0.4892004217533364 0.6149859704519245 0.5385639856321713 1.0 0.7883156511067658 5 O43684 1 |
| Aphthous ulcer 0.4461230118227207 0.6134791881812091 0.5395595397328552 1.0 0.7883156511067658 7 O75083,Q9NZ08 2 |
| Abnormal brain lactate level by mrs 0.4254987531172154 0.6102667234085537 0.5416851365238711 1.0 0.7898063027274688 8 P00403,O75306,O43819,Q15046,P21912,Q99714,O00429 7 |
| Nocturnal hypoventilation 0.4698195395146304 0.6058259696918843 0.5446303228028722 1.0 0.7920792890652016 2 Q9Y281 1 |
| Small intestinal dysmotility 0.467019290603616 0.5940858522000657 0.5524546929922729 1.0 0.7986307405653635 2 P54098 1 |
| Unsteady gait 0.2590018559505533 0.5934540272523515 0.5528773409749124 1.0 0.7987365125146411 47 Q69YN2,Q13144,Q9NR50,Q96C86,P12004,P60174,Q05639,Q14232,P52788 9 |
| Colorectal polyposis 0.4015036591686624 0.5912407375794944 0.5543591308803935 1.0 0.7993717290915299 9 P28340,P20585,Q07864,Q15437 4 |
| Sparse lateral eyebrow 0.4014702545079922 0.5910715782150484 0.5544724623745239 1.0 0.7993717290915299 9 Q9H7D7,Q08J23 2 |
| Abnormal blood phosphate concentration 0.4197346866148517 0.5826141576910876 0.5601530724924466 1.0 0.8045946905632724 8 P10644,P53680,Q15813 3 |
| Hiatus hernia 0.3536106074322234 0.5824305290928189 0.560276722831524 1.0 0.8045946905632724 12 P57081,Q9NPF4 2 |
| Micromelia 0.2987479415615302 0.5766575163392922 0.5641708367960563 1.0 0.8072089179524793 21 O75718,Q9Y617,Q07864,Q14999,P10644,O43175,O75874 7 |
| Pulmonary artery stenosis 0.3212981189648407 0.5765903004425238 0.5642162530864518 1.0 0.8072089179524793 17 Q06124,P62070,P41227 3 |
| Mild hearing impairment 0.3463672967932869 0.5733187218565781 0.5664289113353904 1.0 0.8088555306823086 13 Q93074,Q92796 2 |
| Rectal prolapse 0.3978069718312094 0.5726003578824264 0.5669153173441641 1.0 0.8092972878139207 9 Q08J23,P41227 2 |
| Aplasia hypoplasia involving the nose 0.2693077111682884 0.5682190958213624 0.5698862065509007 1.0 0.8121196430548886 32 P28482,P46109,P41227,P10644,P63241,O94992,Q08J23 7 |
| Generalized onset seizure 0.2195904458447553 0.5670714410741691 0.5706656450780963 1.0 0.8121196430548886 98 Q9H7D7,Q71SY5,P28482,P04080,P31150,Q93074,Q14353,Q96C86,Q92796,O94903,P40763,P49591,Q05639,O60524,P52788,O43175,Q96BT7,Q08J23 18 |
| Abnormal circulating glutamine concentration 0.5004047571391985 0.5665434568419944 0.5710244000827853 1.0 0.8121196430548886 4 P37837,P15104 2 |
| Cone cone rod dystrophy 0.4601742377100232 0.5656860018021234 0.5716072527439815 1.0 0.8121904732025923 2 Q6P4Q7 1 |
| Homocystinuria 0.5225645813881175 0.562409604621439 0.5738369766712761 1.0 0.8138407757879005 3 Q99707,Q9Y4U1 2 |
| Joint contractures involving the joints of the feet 0.375671795623085 0.5620653832620915 0.5740714725659664 1.0 0.8139208129959777 10 P63241,P49902 2 |
| Hyperthyroidism 0.3550702028081053 0.5607167200428953 0.5749906671292184 1.0 0.8149712680457852 11 Q06787,P53992,Q92890,O14802,P12235,Q9UHN1,P54098,O00192,Q96RR1,Q9BUK6 10 |
| Dilatation of the cerebral artery 0.3752261528279589 0.559703529310837 0.5756816746426612 1.0 0.8156977479205221 10 P10644,P42224,Q9NSD9,P31153 4 |
| Poor speech 0.222655480699687 0.5588314428888228 0.5762767613323485 1.0 0.8157620031185777 93 Q71SY5,P36543,Q14353,Q96C86,Q9NX46,O94903,Q05639,Q6UVJ0,P31150,P04350,Q92796,P49591,P55072,Q8N0Z6,P41091,Q93074,O60524,Q08J23,O76075,Q9Y2Z2,O60826,Q96BT7 22 |
| Abnormal circulating serine family amino acid concentration 0.349404879597497 0.557965851932185 0.5768677025569411 1.0 0.8157620031185777 12 Q96EY8,Q9Y617,Q9Y697 3 |
| Angiofibromas 0.4520794753894727 0.5579143171822857 0.5769028944735257 1.0 0.8157620031185777 6 P43246,Q15437 2 |
| Adenoma sebaceum 0.4520794753894727 0.5579143171822857 0.5769028944735257 1.0 0.8157620031185777 6 P43246,Q15437 2 |
| Recurrent viral infections 0.349307126470428 0.5574006115958845 0.5772537477176867 1.0 0.8157805331738034 12 P42224,Q5F1R6,Q7Z2Z2,P29144,P33991,O95394,P61011,P00491 8 |
| Abnormal scrotal rugation 0.4576851275669022 0.5554682197316125 0.5785744418470904 1.0 0.8161281475778959 2 Q96GM8 1 |
| Elevated circulating long chain fatty acid concentration 0.5200795253587103 0.5534109457020642 0.5799820454972373 1.0 0.8176210728730884 3 P50542 1 |
| Bilateral tonic clonic seizure 0.2277771958283321 0.5529335152844506 0.5803089366696725 1.0 0.8176210728730884 82 Q9H7D7,Q93074,P04080,Q14353,O94903,Q05639,P50542 7 |
| Secundum atrial septal defect 0.4735460020399745 0.5513217506092671 0.5814131307843049 1.0 0.8179068291044377 5 Q15650,P62913 2 |
| Abnormal 2nd finger morphology 0.4732912541362202 0.5503028248643577 0.5821116870230696 1.0 0.8184658632366814 5 Q71SY5,Q93074 2 |
| Abnormal gallbladder morphology 0.2628783843334891 0.5495221831192904 0.5826471453575575 1.0 0.8188800410664555 34 Q71SY5,P35250,P08237,Q9UN37,P60174,P04075,O00192,Q15437 8 |
| Impaired vibration sensation in the lower limbs 0.3363272100505406 0.5493510593555274 0.5827645533995143 1.0 0.8188800410664555 14 P10809,O43819,Q9H0B6,O14802,P55072,P49773,Q15120 7 |
| Bone pain 0.3101081024549347 0.54300830561321 0.5871240838936007 1.0 0.8234870167160628 18 P22681,Q07864,P10644,P40763,P55072,Q06124,O75874 7 |
| Abnormality of the parathyroid gland 0.2987295972831835 0.5409719172397156 0.5885269392762369 1.0 0.8246951799093568 20 Q8NFG4,O75874,P10644,O00192,P53680,Q08J23 6 |
| Aortic regurgitation 0.2740692757237634 0.5370525930289611 0.591231285878826 1.0 0.826140240435469 27 Q99622,P28482,P36543,P46109,P46821,Q9NZ08,Q9UQ13,Q15645,O43684 9 |
| Numerous nevi 0.4520846297448671 0.5327025965573423 0.5942394684449117 1.0 0.8276882373726329 2 P11802 1 |
| Abnormal metatarsal morphology 0.2767551476652607 0.5321328266852282 0.5946340030573851 1.0 0.8277854995847292 24 Q9H7D7,P10644,P50542,Q08J23 4 |
| Mild global developmental delay 0.3198036578328017 0.5288304464264854 0.5969230749227865 1.0 0.8298446981141105 16 Q9H7D7,Q96MG7,P46821,P10644,P33991,P62070 6 |
| Abnormality of the helix 0.2533080635307432 0.5254415644131762 0.5992762657243902 1.0 0.832358496088176 46 Q93074,Q06124,P41227,P62266,O00192,P62070,P52788,Q02750,P50542,Q9UID3 10 |
| Abnormal soft palate morphology 0.2349871080033208 0.5200262388148783 0.6030452871576393 1.0 0.835815648149657 67 Q9BUF5,Q9Y617,P52788,O43929,P62913,Q92796,P60866,P62899,P62854,P62081,P62266,P62847,Q9C0B1,P36871,O43175,P42766 16 |
| Abnormality of the pylorus 0.258970944771495 0.5143374782368115 0.607016063079973 1.0 0.8396300547106186 34 P28482,Q93074,P31150,P46109,P46821,Q92796,P41227,Q8TD19,P50542 9 |
| Aplasia hypoplasia of the retina 0.4474175482265193 0.5139786873996425 0.60726689146211 1.0 0.8396300547106186 2 Q12948 1 |
| Tics 0.4237538043690275 0.5134387075947677 0.6076444750865866 1.0 0.8398980633869935 7 P46109 1 |
| Abnormality of the 2nd toe 0.346368147276724 0.5121828288497268 0.6085230594715176 1.0 0.8404415656293647 11 Q93074 1 |
| Myelofibrosis 0.4855853070104161 0.5108044349680688 0.609488003374125 1.0 0.840920514163334 4 Q9UQ13 1 |
| Leg muscle stiffness 0.4461729931549526 0.5090250540692675 0.6107346628073753 1.0 0.8416011198731951 2 Q6PI48 1 |
| Abnormality of taste sensation 0.4461729931549484 0.5090250540692517 0.6107346628073864 1.0 0.8416011198731951 2 O95163 1 |
| Abnormally folded helix 0.2843396833305726 0.507666288380578 0.6116873941094678 1.0 0.8421756260464992 22 O00192,Q93074,P41227,Q9UID3 4 |
| Abnormal bronchoalveolar lavage fluid morphology 0.4443061605476144 0.501626480623353 0.6159302886498423 1.0 0.8457246468664552 2 P56192 1 |
| Migraine 0.2781881335259128 0.5007021325693162 0.6165807711999023 1.0 0.8463635751215476 23 P00558,Q16658,P60866,Q9NZ08,P52701,P21359,P43246 7 |
| Leukemia 0.2349288390715629 0.4992338510690543 0.6176146496882138 1.0 0.8465359617877665 62 P22681,Q15645,P21359,Q13951,Q02750,P62263,P62899,P62847,P42771,Q9Y3Z3,P62913,Q5F1R6,Q7Z2Z2,O43684,Q08J23,P42766,P61353,P62273,Q06124,Q99961,P60866,P62854,P62081,P11766,P08708,P43246,P62244 27 |
| Abnormality of the vertebral endplates 0.4380303633729132 0.4992087352257682 0.6176323414049882 1.0 0.8465359617877665 6 Q96L58,O95340,Q9NR45 3 |
| Irregular vertebral endplates 0.4380303633729132 0.4992087352257682 0.6176323414049882 1.0 0.8465359617877665 6 Q96L58,O95340,Q9NR45 3 |
| Arachnodactyly 0.2549263702561608 0.4985258925664081 0.6181134239181307 1.0 0.846687581878866 37 O60828,Q93074,Q9NPF4,P46109,Q9H3P2,P52788,O00192 7 |
| Hypotelorism 0.2540529328950162 0.4936403717396789 0.6215601835686255 1.0 0.849569770325094 39 Q9Y3C4,P57081,Q9NPF4,O75175,P12931 5 |
| Abnormality of the pulmonary veins 0.4003672093580376 0.4924568817615891 0.6223963963383168 1.0 0.849569770325094 8 O75718,P62244,P57076 3 |
| Abnormal pons morphology 0.277035825123716 0.4920631751363042 0.6226746838240569 1.0 0.849569770325094 23 P08243,P30153,P40925,Q99986,Q9UN37,O14936,P23526,Q9UNE7,P36405,Q9NQX3,Q99700,Q92974,Q9UID3 13 |
| Hand clenching 0.4186018632173102 0.4911731232217787 0.6233040065556918 1.0 0.849569770325094 7 P36543 1 |
| Large intestinal polyposis 0.3371234458209113 0.4882565507163602 0.6253681331794807 1.0 0.8500023005540904 12 Q8NFG4,P20585,Q07864,P28340,Q15437 5 |
| Cafe au lait spot 0.2479198821302623 0.4815200456721963 0.6301469362964249 1.0 0.8539583889151966 47 P22681,Q15477,O75648,Q96PZ0,P21359,Q15645,Q02750,Q15437,P28482,P26196,P53618,Q93074,O75175,P52701,O43684,Q9BPU6,O00232,P10644,Q9UQ13,P43246,Q06124 21 |
| Undetectable light and dark adapted electroretinogram 0.4767440038797054 0.4784728903442845 0.6323136650016188 1.0 0.8545704173033384 4 P37198,Q15555 2 |
| Neoplasm of the gastrointestinal tract 0.2134141247194622 0.4755568923304973 0.6343900925731387 1.0 0.8552177863568244 98 P20585,Q6PD74,Q9UKG1,Q16658,Q15477,Q15645,P21359,Q15437,P42224,P62899,P62847,P42771,Q8NFG4,Q07864,P62913,P52701,P12931,O43684,P08397,P50336,P42766,P61353,P62273,P62854,P60866,P62081,P10644,P28340,P08708,P43246,P62244,Q9UER7,P23526 33 |
| Biconcave vertebral bodies 0.4321374203094418 0.4752187078390789 0.6346310941418396 1.0 0.8552177863568244 6 Q9NR45 1 |
| Goiter 0.339094596711177 0.4726270929447469 0.6364792497354177 1.0 0.8558120973900831 11 Q15437 1 |
| Infertility 0.3233645845433746 0.4722376730632125 0.6367571523132078 1.0 0.8558120973900831 14 P57076,Q15645,Q06124,Q02750,Q86Y56 5 |
| Aplasia of the fingers 0.2653589330642659 0.4672705833491394 0.6403062999548284 1.0 0.8583108789130559 27 P61353,P62273,P62913,O00232,P60866,P62854,P62899,P62081,P62847,P46777,P08708,P62244,P42766 13 |
| Large basal ganglia 0.2922693601256049 0.4658822604371342 0.6412997795916142 1.0 0.8586564086980761 19 Q71SY5,Q96C86,P49591,O60524,Q96BT7,Q08J23 6 |
| Intussusception 0.4346608587430037 0.4640341162310948 0.6426233030686159 1.0 0.8595952129809888 2 Q13485 1 |
| Tented upper lip vermilion 0.2667927525493298 0.4619391462944202 0.6441249604162129 1.0 0.8598210404105661 25 Q05639 1 |
| Lumbar hyperlordosis 0.2974053935619253 0.4589940119285286 0.6462384661807179 1.0 0.861965575988346 18 Q93074,Q06210,P41227,P41250,P55072,Q96J02 6 |
| Abnormality of hair texture 0.2316254349000084 0.457404836959031 0.6473800883453411 1.0 0.8621198246520171 59 O60828,Q93074,P04080,P36543,P41227,Q9UQ13,P46778,P62266,P62070,O43175,Q06124,Q02750,Q08J23,P23526 14 |
| Unusual infection by anatomical site 0.3362069788795754 0.457200685261437 0.6475268058603612 1.0 0.8621198246520171 11 Q15833,P42224,O95394 3 |
| Lumbar kyphosis 0.4327940261356571 0.4568857623207848 0.6477531580994367 1.0 0.8621198246520171 2 O95352 1 |
| Rickets 0.4086367679262326 0.449044840350894 0.6533993101200042 1.0 0.8657067381329099 7 O43175,Q9Y617 2 |
| Transient neutropenia 0.4469466024599326 0.4483283337324499 0.6539162550177093 1.0 0.8657786864815529 5 Q5F1R6,P61011,Q7Z2Z2 3 |
| Esophageal neoplasm 0.3901100617964991 0.4466803819027149 0.6551058485547414 1.0 0.8669626038632666 8 Q6PD74 1 |
| Disproportionate tall stature 0.2635652821103328 0.4447969020247773 0.65646653338572 1.0 0.8674666448875784 26 Q93074,O75648,Q9H3P2,O75175,P52788 5 |
| Profound global developmental delay 0.3184663795255593 0.4440520845497819 0.6570049277183978 1.0 0.8674666448875784 14 P57081,P50542 2 |
| Abnormal circulating long chain fatty acid concentration 0.465958537974775 0.4400622369895698 0.6598920315686034 1.0 0.8697711869377411 4 P50542 1 |
| Abnormal hemidiaphragm morphology 0.4281269446173009 0.4392044802413193 0.6605133790188755 1.0 0.8698376996529185 2 Q9Y223 1 |
| Increased serum testosterone level 0.4281269446173009 0.4392044802413193 0.6605133790188755 1.0 0.8698376996529185 2 O14802 1 |
| Impaired t cell function 0.3700300645714095 0.438403180482486 0.6610940413096857 1.0 0.8701189881921769 9 P11172,O00192,P00491 3 |
| Severe demyelination of the white matter 0.4867724867725011 0.4376953595887845 0.6616071338070593 1.0 0.8702751679516741 3 P60891,Q9Y4U1 2 |
| Coxa vara 0.3225058548857042 0.435943207772237 0.6628779351022276 1.0 0.8708543641562057 13 O75718,P26373,Q5F1R6,Q96AY3,P50542 5 |
| Status epilepticus 0.238657369799882 0.434231980959562 0.6641199916208944 1.0 0.8713239040468164 51 O94903,P50542,Q05639 3 |
| Fine hair 0.2829317710480945 0.4320518008792871 0.6657037646867887 1.0 0.8721501600410752 20 Q02750,Q93074,P04080,P41227 4 |
| Nonimmune hydrops fetalis 0.2616852357536732 0.4305632338356442 0.6667859792102799 1.0 0.872817500277832 26 P61353,P62273,P62913,P60866,P62854,P62899,P62081,P62847,P08708,P62244,P06132,P42766 12 |
| Gastritis 0.4202232851697648 0.4279845889543037 0.6686623404621452 1.0 0.8732578653090345 6 Q13546 1 |
| Moderate sensorineural hearing impairment 0.3675487947896299 0.4269906063998566 0.6693861696573102 1.0 0.8732578653090345 9 Q93074 1 |
| Decreased fertility in females 0.4031812548978722 0.4265420302647893 0.6697129284681587 1.0 0.8732578653090345 7 P57076,Q15645 2 |
| Ambiguous genitalia 0.2679496062004809 0.4256821576514647 0.6703394650215728 1.0 0.8734668456709264 23 O43684,Q2VPK5,Q9Y617,Q15645 4 |
| Delusions 0.2919793162755155 0.4245128545927444 0.6711918325709809 1.0 0.8738302098211205 18 Q13144,Q9NR50,P49770,Q14232,P08397,P50336 6 |
| Abnormality of the hypothenar eminence 0.4596017392996143 0.4179925064520032 0.6759525960501289 1.0 0.8771059106187461 4 Q96IJ6 1 |
| Diaphragmatic eventration 0.4593379515780132 0.4170862153883566 0.6766153471978291 1.0 0.8771059106187461 4 Q15650 1 |
| Reduced forced vital capacity 0.4799630756759103 0.4152948442119628 0.6779260750630258 1.0 0.8783446964606267 3 O95817 1 |
| High myopia 0.4003504975603342 0.4150313119429182 0.678118981304985 1.0 0.8783456683324133 7 P36543,P52788,Q7Z2Z2 3 |
| Trichorrhexis nodosa 0.4784081851242941 0.4102460781078176 0.6816254427774162 1.0 0.8821375704800594 3 Q15477 1 |
| Proximal femoral metaphyseal abnormality 0.4571701333994837 0.4096676964123064 0.682049729871435 1.0 0.8821791608681441 4 Q5F1R6,P61011 2 |
| High narrow palate 0.2440786007737863 0.4067591611740297 0.6841848840349312 1.0 0.8833218086168279 40 Q71SY5,P28482,P31153,Q06124,P46109,O43929,O60826,P41227,P26639,P52788,Q02750,P50542 12 |
| Myositis 0.3808216700108638 0.4065771304037436 0.6843185969258354 1.0 0.8833218086168279 8 Q9NZ08,P28070,Q9Y3Z3 3 |
| Elevated circulating parathyroid hormone level 0.4749930299128259 0.3992458595410679 0.6897120553385441 1.0 0.885815918357623 3 P10644 1 |
| Testicular atrophy 0.4335080886717005 0.3992358477367653 0.6897194316731166 1.0 0.885815918357623 5 P52788 1 |
| Hypoplasia of the pons 0.2819667878397931 0.3990848846873572 0.6898306593505403 1.0 0.885815918357623 19 P08243,P30153,P40925,Q99986,O14936,P23526,Q9UNE7,Q9NQX3,Q99700,Q92974,Q9UID3 11 |
| Nasal speech 0.2432682133065425 0.39630974742941 0.6918765372906119 1.0 0.8876137109052448 37 O95817,O60828,Q93074,Q96IJ6,O00232,O75648,O75175,Q9UQ13,P52788,O00192 10 |
| Abnormal size of the clitoris 0.2925795641695349 0.3940171408467002 0.6935683842452314 1.0 0.8887153991045552 17 P40855,P37837,O43929,P50542 4 |
| Cutaneous melanoma 0.4523661270236593 0.3934180898177956 0.6940107108964579 1.0 0.8887153991045552 4 P11802,P42771,P19447 3 |
| Abnormality of dental color 0.4523661270236592 0.3934180898177956 0.6940107108964579 1.0 0.8887153991045552 4 P16278,Q6P4Q7,P06132 3 |
| Leukopenia 0.240536345347372 0.3861783060243059 0.6993646192141585 1.0 0.8942778671386838 43 P62263,P62899,P40763,P62847,P46777,P62913,Q5F1R6,Q7Z2Z2,Q9NVI1,O95394,P42766,P61353,P62273,P60866,P62854,P62081,P10644,P11766,P08708,P62244 20 |
| Hypoamylasemia 0.4294265335396079 0.3847665286809805 0.7004103997408961 1.0 0.8942778671386838 5 Q5F1R6,P61011,Q7Z2Z2 3 |
| Parathyroid adenoma 0.3926601346770531 0.3843589174994974 0.7007124453806362 1.0 0.8942778671386838 7 P10644,Q8NFG4,O75874 3 |
| Neoplasm of the parathyroid gland 0.3926601346770531 0.3843589174994974 0.7007124453806362 1.0 0.8942778671386838 7 P10644,Q8NFG4,O75874 3 |
| Severe muscular hypotonia 0.2543476481625949 0.3837719136927948 0.701147506627344 1.0 0.8942778671386838 27 Q08209,Q15650,Q9BY32,Q05639,P40855,P50542 6 |
| T lymphocytopenia 0.3924569921759042 0.3835609422695792 0.7013038932624387 1.0 0.8942778671386838 7 O95394,Q96MG7 2 |
| Abnormal aortic arch morphology 0.3218809986084042 0.3832469420057748 0.7015366754452184 1.0 0.8942778671386838 11 Q9H7D7,O00192 2 |
| Antineutrophil antibody positivity 0.4493040828299558 0.3832008245873026 0.7015708666723519 1.0 0.8942778671386838 4 Q96J02 1 |
| Tibial torsion 0.4122588674548879 0.3812416123655704 0.703023974287011 1.0 0.8956305982346509 2 P26196 1 |
| Abnormality of lower limb epiphysis morphology 0.3013212108016354 0.3799623214739226 0.7039733844141414 1.0 0.896590231305946 15 P26373,Q5F1R6,Q7Z2Z2,Q9NZC9,P61011,P50542 6 |
| Sprengel anomaly 0.2499445645196431 0.3791356443737887 0.7045871383422739 1.0 0.8968721273635573 30 P62913,P60866,P62854,P62899,P62081,P62847,Q06124,P42766 8 |
| Menorrhagia 0.4677871148459491 0.3764474231574281 0.7065842957726423 1.0 0.8988642513121508 3 P49257,P35579 2 |
| Lymphoproliferative disorder 0.406522337077184 0.375970616639031 0.7069387406403811 1.0 0.8988642513121508 6 P33991 1 |
| Reduced natural killer cell count 0.4267266573623007 0.3753141947683798 0.7074268105735233 1.0 0.8989846958942382 5 P33991,O95394,Q13546 3 |
| Abnormal natural killer cell morphology 0.4267266573623007 0.3753141947683798 0.7074268105735233 1.0 0.8989846958942382 5 P33991,O95394,Q13546 3 |
| Neonatal hyperbilirubinemia 0.4671646436352469 0.3745048884897473 0.7080287202989328 1.0 0.8991152079092805 3 P11171,P43034 2 |
| Cervical spine instability 0.410080896079652 0.3735612266466325 0.7087307854000051 1.0 0.8991152079092805 2 Q96L58 1 |
| Small earlobe 0.3896761782893404 0.3727027413214696 0.7093696959554814 1.0 0.8992037937361357 7 P52788 1 |
| Underdeveloped supraorbital ridges 0.3102165369425416 0.3701120308512272 0.7112990183184313 1.0 0.8999025222069056 13 Q02750,P50542 2 |
| Shortening of all distal phalanges of the fingers 0.3175620006361488 0.3618663397943859 0.7174519146533787 1.0 0.9028175811779596 11 Q93074 1 |
| Parakeratosis 0.4227752468389232 0.3616553286261189 0.7176096130390814 1.0 0.9028175811779596 5 P00338 1 |
| Endocarditis 0.4225972907159805 0.3610451625941817 0.718065685972076 1.0 0.9028175811779596 5 P10644 1 |
| Abnormal blood sodium concentration 0.3167315027135516 0.3578071793202753 0.7204876174917192 1.0 0.9045176873261874 11 P08397,P50336,Q9UNF1 3 |
| Abnormal vitamin b12 level 0.4011676661031717 0.3563715702725474 0.7215623172675834 1.0 0.904577506453188 6 P11586,Q96EY8 2 |
| Pendular nystagmus 0.4197854624886399 0.3514619709735153 0.7252417977091987 1.0 0.9057208988712184 5 P37198,O15347,P49902 3 |
| Abnormal circulating igm level 0.2899766480856663 0.3498649223812516 0.7264400731898486 1.0 0.9057208988712184 16 O95394,Q96BN8 2 |
| Hamartoma 0.2658986874248799 0.3495142020526624 0.7267033106115637 1.0 0.9057208988712184 21 P20585,Q8TD19,P52701,Q9H269,O75874,Q15437 6 |
| Clubbing 0.2732987726005489 0.3458152034411524 0.7294815986121335 1.0 0.9070148944790628 19 Q86TI2,P26639,P57076,Q9H4L7,Q9UID3 5 |
| Ovoid vertebral bodies 0.3490347654271392 0.3453647434592691 0.7298201790409391 1.0 0.9070148944790628 9 Q96L58,Q9NZC9,Q5F1R6,P61011 4 |
| Acute leukemia 0.2311122234173383 0.3429491595503087 0.731636707921411 1.0 0.907547189120426 49 Q15645,Q13951,P62263,P62899,P62847,P46777,P42771,P62913,Q5F1R6,Q7Z2Z2,O43684,Q13492,P42766,Q08J23,P61353,P62273,Q99961,P60866,P62854,P62081,P11766,P08708,P43246,P62244 24 |
| Decreased corneal reflex 0.4563351209255246 0.3414204646910611 0.7327870710732749 1.0 0.9084631740622772 3 Q2TAA5 1 |
| Distal joint laxity 0.4004355942750486 0.3404011986812461 0.7335544161161482 1.0 0.9089393429294969 2 O75340 1 |
| Intellectual disability profound 0.2342316478398534 0.3368428791529701 0.7362353471327725 1.0 0.9105070998718208 44 P52788,Q92796,Q05639,Q93074 4 |
| Nephrolithiasis 0.2544541306346747 0.3335260954341307 0.738737194670948 1.0 0.9126399234705144 23 P07741,Q96EN8,Q9UBQ7,P35250 4 |
| Fibrous tissue neoplasm 0.2667540073782746 0.3296018452280882 0.741700828160252 1.0 0.9148774461552576 20 Q13126,Q15437 2 |
| Abnormality of the lymph nodes 0.2344960803117687 0.3287144922325989 0.74237149931656 1.0 0.9148774461552576 41 P22681,P28070,Q15833,O75083,Q969U7,Q96BN8,P14174,P33991,P10644,Q9NZ08,P40763,Q15645,P13051,Q13546 14 |
| Abnormality of lower lip 0.2169369286150584 0.3284940288850593 0.742538158302158 1.0 0.9148774461552576 69 P22681,Q71SY5,Q99622,Q9Y617,P31150,P35250,Q93074,Q06124,Q92796,Q14999,Q9UQ13,P62266,Q96PZ0,Q05639,Q9NR45,P52788,O43175,P62070 18 |
| Adenocarcinoma of the small intestine 0.4318254909257553 0.3270918118063023 0.7435984447300414 1.0 0.9148774461552576 4 Q6PD74 1 |
| Hyposmia 0.2856558678637233 0.3261544370120954 0.7443075120538496 1.0 0.9148774461552576 16 Q99497,Q06124 2 |
| Sparse body hair 0.3060293614885757 0.3260599578767165 0.744378991841204 1.0 0.9148774461552576 12 P04080 1 |
| Abnormal endocardium morphology 0.3014285924352716 0.3254876503743497 0.7448120278076371 1.0 0.914951835288554 13 P10644,Q06124,P35250 3 |
| Oculomotor apraxia 0.2529209345807918 0.3236001998060949 0.7462407366767516 1.0 0.9157225254629348 23 P28482,Q69YN2,P46109,Q9Y3C8,Q96T60,P35270,Q99700 7 |
| Nephronophthisis 0.4303653972196654 0.3225832527958538 0.7470108785644887 1.0 0.916175671027174 4 Q8TD19 1 |
| Abnormal dentin morphology 0.3913336792567897 0.3215255284914497 0.7478121694923305 1.0 0.9167487951512 6 Q96AY3,O94855 2 |
| Eeg with spike wave complexes 0.3048201565680632 0.3202438834210073 0.7487834592464453 1.0 0.917172294654104 12 P04080 1 |
| Abnormality of the clitoris 0.2607755669579349 0.3178442032861667 0.7506031186312443 1.0 0.9176268668797588 21 P40855,P37837,O43929,P50542 4 |
| Abnormality of the tonsils 0.389908544913003 0.3166038851072588 0.7515441874439994 1.0 0.918286148304336 6 O00192 1 |
| Radial bowing 0.4280821917808197 0.3155906164244481 0.7523132609694605 1.0 0.918445274613614 4 Q96L58,Q32P28,P21333 3 |
| Cystic hygroma 0.3078228772605478 0.3153734345049636 0.7524781346374938 1.0 0.918445274613614 11 Q06124,Q02750,P62070 3 |
| Arthropathy 0.4074962074038685 0.3108992466037951 0.7558772172379413 1.0 0.9210270243323472 5 Q9Y3Z3 1 |
| Prematurely aged appearance 0.2313121889625182 0.3057905118732309 0.7597641530880024 1.0 0.92265726454975 42 Q93074,P35250,P36543,P37837,Q13126,P41227,Q06124,Q02750 8 |
| Secondary amenorrhea 0.2715698369964625 0.3038018382771699 0.7612788661538901 1.0 0.9236727751970414 18 Q13144,O95340,Q9NR50,P49770,Q14232 5 |
| Prominent digit pad 0.2495654934139176 0.3022946417012345 0.7624274626932785 1.0 0.9244180190904446 23 Q93074,P46821,O00232,P41227,O75648,O75175,P62266,Q96PZ0 8 |
| Joint subluxation 0.3853582554517156 0.3011146295091774 0.7633270857058974 1.0 0.9246713917043514 6 Q02809,Q14807,P16278,O75369,Q96L58 5 |
| Abnormal eosinophil morphology 0.3542624303527789 0.3000844859008322 0.764112712652542 1.0 0.9246713917043514 8 O95394 1 |
| Colon cancer 0.2617411883787092 0.3000481951334242 0.7641403938145657 1.0 0.9246713917043514 20 P42771,Q8NFG4,P20585,Q16658,P10644,Q15645,O43684,P43246 8 |
| Abnormal motor nerve conduction velocity 0.2570901836412181 0.2958074140546277 0.7673771606624396 1.0 0.92635579113684 21 Q71SY5,Q92597,Q13614,P41250,P48643 5 |
| Flexion contracture of digit 0.2082046243816723 0.2942788342638364 0.7685448447781213 1.0 0.92635579113684 78 Q71SY5,Q9Y3C4,Q8TD19,O43175,P28482,P57081,P10412,Q8N0X7,Q93074,Q9NPF4,P46109,P52788,P50542,O60828,P15104,O60826,P41227,P63241,P49773 19 |
| Generalized neonatal hypotonia 0.4020249172704639 0.2935626076693988 0.7690921521252041 1.0 0.92635579113684 5 Q93074 1 |
| Chorioretinal coloboma 0.3361789927598337 0.2927487863329856 0.7697141765401319 1.0 0.9268607747536728 9 O60826,P41227 2 |
| Aplasia hypoplasia involving the pelvis 0.278914950778543 0.2904694015324994 0.7714571562048786 1.0 0.9274782766080136 16 Q14999,Q9H3P2,Q9NZC9,Q9NR45,P50542 5 |
| Aplasia hypoplasia of metatarsal bones 0.3512060433359972 0.2886944452353551 0.7728152138587416 1.0 0.927702768066106 8 P10644 1 |
| Ectrodactyly 0.2783008402026938 0.2873006768465805 0.7738821044468136 1.0 0.927702768066106 16 Q9H3P2,Q93074,P49773 3 |
| Broad femoral neck 0.3839452395768497 0.28713415999584 0.7740095970353167 1.0 0.927702768066106 2 P48444 1 |
| Macrogyria 0.3999341124380583 0.2870597318867381 0.7740665844244428 1.0 0.927702768066106 5 Q9Y617 1 |
| Palpebral edema 0.3661867262346165 0.2861855159065186 0.7747360366578673 1.0 0.9277580063203604 7 P50542 1 |
| Delayed closure of the anterior fontanelle 0.2974439576171337 0.2856744112272109 0.7751275051711783 1.0 0.9277580063203604 12 P40855,P36543,Q93074 3 |
| Axonal degeneration 0.4174968866749667 0.2841138821926383 0.7763231087027198 1.0 0.9282168270677824 4 Q6DKK2,P50570,Q9UHD8 3 |
| Dysgraphia 0.2926298823047595 0.2830779379051942 0.7771170931957856 1.0 0.9286803223524016 13 P35250,Q16658,P60866,P55072,P43246 5 |
| Elevated urinary carboxylic acid 0.3493446265480078 0.2818520104472027 0.778056988324642 1.0 0.9288445095359572 8 P08397 1 |
| Narrow palate 0.2217753071820821 0.2805912826773913 0.7790239029538717 1.0 0.9288445095359572 51 Q93074,P46109,P41227,P52788,P50542 5 |
| Cupped ear 0.2760682394710033 0.2759000405458921 0.7826248427700846 1.0 0.9310939797361828 16 O60828,P52788,Q93074 3 |
| Capillary malformation 0.2864624802841263 0.2757957314129807 0.7827049624520153 1.0 0.9310939797361828 14 Q8TD19,P41227,P35250 3 |
| Abnormal circulating monocarboxylic acid cocentration 0.3471326165423988 0.2738151943175905 0.7842266463408356 1.0 0.9316864235568032 8 P37837,Q5F1R6,Q7Z2Z2,P61011,Q9UDY2 5 |
| Thick lower lip vermilion 0.2234812766135274 0.2713981948895647 0.7860847902331682 1.0 0.9328051460723864 48 P22681,Q99622,Q93074,P31150,P35250,Q06124,Q92796,Q14999,Q9UQ13,P62266,Q9NR45,P62070,P52788,O43175 14 |
| Memory impairment 0.2273906732423591 0.2711055166888434 0.7863098787141733 1.0 0.9328051460723864 39 Q13144,Q9NR50,Q16658,P43246,P60866,Q9UNE7,Q9NZ08,P49770,P52701,P55072,Q14232,P08397,Q06787 13 |
| Abnormal circulating nucleobase concentration 0.28990320885504 0.2704260056708327 0.7868325355113717 1.0 0.9328626633741056 13 P08237,Q96EN8,P00491,P00492 4 |
| Adducted thumb 0.2384749124588917 0.2694713286300051 0.7875670028865076 1.0 0.9328626633741056 26 Q71SY5,Q9Y3C4,P35250,P57081,Q9NPF4,Q8TD19 6 |
| Abnormal circulating creatinine concentration 0.3939314921155962 0.268774950303644 0.7881028710040985 1.0 0.9328626633741056 5 P00492 1 |
| Posterior embryotoxon 0.2798917932425941 0.2681600881577177 0.7885760952258902 1.0 0.9328626633741056 15 O00192,P50542,P35250 3 |
| Abnormality of the gallbladder 0.226228453620656 0.2633074111165033 0.792313647939298 1.0 0.935196773226192 40 Q71SY5,P35250,P08237,Q9UN37,Q9H3P2,P60174,P04075,O00192,Q15437 9 |
| Spinal cord compression 0.4279489573607216 0.2615822952223532 0.7936434952273912 1.0 0.9361921075314594 3 Q9UNW1,Q96L58 2 |
| Abnormality of the musculature of the upper limbs 0.2062569371458382 0.2594517883168487 0.7952866759717601 1.0 0.9374518645645442 76 Q14331,P62899,P62847,P55072,Q92597,Q96IJ6,P62913,Q14999,P08397,P50336,P42766,P60866,P62854,P62081,P41250,P62244,P08708,P49773,Q06124,O14908 20 |
| Adenomatous colonic polyposis 0.3897513814358039 0.256385985995539 0.7976528078656377 1.0 0.939318814801218 5 P20585,Q07864 2 |
| Juvenile onset 0.2250770424721324 0.2547502637141858 0.7989159918168725 1.0 0.939985842624176 37 P04080,Q13144,Q9NR50,P00338,P40763,Q14232,P48643 7 |
| Hepatocellular carcinoma 0.2498548766587181 0.254463827552974 0.7991372459487012 1.0 0.94000420772813 21 Q16658,P43246,P60866,P52701,P08397,P50336,P23526 7 |
| Abnormality of bone marrow cell morphology 0.2171551442392826 0.2518301134833277 0.8011723800746511 1.0 0.9414290358152262 52 P22681,Q15833,Q9NSD9,P37837,P22314,P11586,O76094,P62263,Q9NZC9,P40763,Q96EY8,Q5F1R6,Q7Z2Z2,Q9NVI1,Q9NX24,Q9NPE3,Q6NZY4,O95394,P12931,Q96J02,Q9BUR4,P10644,Q9UQ13,P11766 24 |
| Neoplasm of the pituitary gland 0.2759344770052584 0.2492488071073566 0.8031683278135444 1.0 0.9420692262415992 15 P10644,P43246,P60866,O75874 4 |
| Abnormality of exocrine pancreas physiology 0.24487326986016 0.2487919339810147 0.8035217307242664 1.0 0.9420692262415992 22 P21266,Q9UKG1,P14174 3 |
| Mitral valve prolapse 0.2357024823759782 0.2484894071219851 0.8037557650079188 1.0 0.9420692262415992 25 P06753,P28482,Q93074,P35250,P36543,Q96L58,P21359,P46777,Q06124,Q06787 10 |
| Mediastinal lymphadenopathy 0.3708774113254509 0.2482268922310446 0.8039588603567047 1.0 0.9420692262415992 2 Q01844 1 |
| Seborrheic dermatitis 0.3546276098473107 0.2473400553224239 0.8046450619062255 1.0 0.9426018908183896 7 P29401,Q9Y5S9,Q9HCC0,P53992,O00192,Q92890 6 |
| Glycosuria 0.3389746435713088 0.2450840481012799 0.8063913541028491 1.0 0.9426230339699608 8 Q9UKG1,P40763 2 |
| Abnormal labia minora morphology 0.3536283461529476 0.244106190903169 0.8071485779167789 1.0 0.9426230339699608 7 O43929 1 |
| Bile duct proliferation 0.4029416149796568 0.2434835111923777 0.8076308569946227 1.0 0.9426230339699608 4 Q5XKP0 1 |
| Disproportionate short trunk short stature 0.385238243537841 0.2433348150588466 0.80774603623045 1.0 0.9426230339699608 5 O75369,Q14807,P16278,Q9NZC9 4 |
| Abnormal myeloid leukocyte morphology 0.1954062760463794 0.2425623728599136 0.8083444328616067 1.0 0.9426230339699608 98 P22681,Q15833,O95817,P42224,Q96BN8,P62899,Q9NZC9,P62847,P40763,P48637,Q96EY8,P62913,Q5F1R6,O00203,Q7Z2Z2,Q9NPE3,O95394,Q96J02,P42766,Q08J23,O95551,P61353,Q9BUR4,O75083,P62854,P60866,P62081,P10644,P26639,P08708,P62244,P00491 32 |
| Chronic otitis media 0.2338522020403312 0.2410563492520609 0.80951144351245 1.0 0.942672181963656 26 P35250,Q9H3P2,O95394,P40763,P57076 5 |
| Multiple lipomas 0.3842666415160464 0.2405698815117745 0.8098884957539374 1.0 0.942672181963656 5 Q8NFG4 1 |
| Productive cough 0.3521671204234642 0.2394137921090735 0.810784736384867 1.0 0.9430272341005668 7 P10644,P57076 2 |
| Death in adulthood 0.2827442169583651 0.2383712557218026 0.8115931595515606 1.0 0.9434873683393143 13 P43246,Q16658,Q9UN37,P35250 4 |
| Laryngeal stenosis 0.4003735990037339 0.2366472874221369 0.8129304319124957 1.0 0.943547201871892 4 O75369,Q13485,Q96HY6 3 |
| Epiphyseal dysplasia 0.4003735990037338 0.2366472874221366 0.8129304319124959 1.0 0.943547201871892 4 O75369,Q96L58,P38646 3 |
| Carpal bone hypoplasia 0.4003735990037337 0.236647287422136 0.8129304319124964 1.0 0.943547201871892 4 Q9NR45,P54886,Q9Y5S9 3 |
| Reduced antithrombin iii activity 0.3828055640835189 0.2364421776210449 0.8130895708101908 1.0 0.943547201871892 5 P34949,P36871 2 |
| Abnormality of the extrinsic pathway 0.3828055640835189 0.2364421776210449 0.8130895708101908 1.0 0.943547201871892 5 P34949,P36871 2 |
| Hypoparathyroidism 0.305230319840997 0.2344979626726924 0.8145984146547312 1.0 0.9442702868449296 10 O00192,Q08J23 2 |
| Neoplasm of the adrenal cortex 0.3819269845526167 0.2339776121004566 0.8150023592499338 1.0 0.9442702868449296 5 P10644,O75874 2 |
| Aplasia hypoplasia involving the skeletal musculature 0.3357017874327515 0.2339703153813415 0.815008023993065 1.0 0.9442702868449296 8 Q9Y617 1 |
| Writer s cramp 0.4170509476442819 0.2338016395780818 0.8151389766512103 1.0 0.9442702868449296 3 P49773 1 |
| Gingivitis 0.3968085983960406 0.2273268584376487 0.8201695897407923 1.0 0.9469550883316904 4 P40763 1 |
| Failure to thrive in infancy 0.2217978917031779 0.2235007474005409 0.8231458014980457 1.0 0.9484747816101756 34 Q9Y617,Q96MG7,Q96BN8,Q06124,Q02750 5 |
| Abnormality of the fetal cardiovascular system 0.3601229445914121 0.221826330842427 0.8244490810129765 1.0 0.948659660322302 6 O60826 1 |
| Pulmonary fibrosis 0.2472646781371163 0.2213137163300028 0.8248481706812667 1.0 0.948659660322302 20 P21266,P14174,Q86TI2,Q6NZY4 4 |
| Impaired distal proprioception 0.3944582814445806 0.2212912259740356 0.8248656813064341 1.0 0.948659660322302 4 Q6PI48,O14802,P54098 3 |
| Cortical dysplasia 0.2254650202269816 0.2192774442806252 0.8264339312097129 1.0 0.9498691223433736 31 Q71SY5,Q96C86,Q96BT7,P07437,P49591,O60524,Q13885,Q08J23 8 |
| Microvesicular hepatic steatosis 0.3002716769612252 0.2158607275382739 0.8290963102616489 1.0 0.9519716740030136 10 O75648 1 |
| Thoracic scoliosis 0.276435679038838 0.2115778723961483 0.8324363737819453 1.0 0.9532209735584884 13 P49773,P50542 2 |
| Reduced systolic function 0.4064737005913502 0.2084640876505068 0.8348666205466866 1.0 0.9538053792849048 3 P06753,P14923 2 |
| Papilloma 0.312675049951533 0.2064745923431262 0.8364202095156197 1.0 0.954625912033932 9 Q15437 1 |
| Cupped ribs 0.3541695295603675 0.2048561227226028 0.8376845371255945 1.0 0.9552679672540716 6 Q96L58,Q5F1R6,P22314,P61011 4 |
| Abnormality of the pulmonary vasculature 0.2165619086736813 0.2002563662757311 0.8412800859458416 1.0 0.9576481897164746 43 P22681,O75718,P27635,Q06124,P35250,Q9BPU6,O00232,Q15477,O75648,P41227,O75175,P57076,Q96PZ0,P62070,P62244,Q86Y56 16 |
| Abnormality of vitamin d metabolism 0.2959059283200883 0.200035343292951 0.8414529397465145 1.0 0.9576481897164746 10 Q9Y3A5,Q9NSD9,Q5F1R6,P62913,Q7Z2Z2,P61011 6 |
| Aortic dissection 0.4026293158899132 0.1996620362182241 0.8417449065852884 1.0 0.9576481897164746 3 P31153 1 |
| Abnormal circulating iga level 0.2648195006559461 0.1993341990925222 0.8420013289150101 1.0 0.9576481897164746 15 Q96BN8 1 |
| Cardiorespiratory arrest 0.3518979464841314 0.1973109912235545 0.8435841786676841 1.0 0.9587327898284396 2 Q96L58 1 |
| Toe clinodactyly 0.2311544486914094 0.1964595946536739 0.8442504551570729 1.0 0.9590423054094596 23 Q93074,P31150,O00232,Q92796,O75648,O75175,Q96PZ0 7 |
| Blue irides 0.3096638116358809 0.1964267760310612 0.8442761402248227 1.0 0.9590423054094596 9 P10644,P35250 2 |
| Abnormality of globe size 0.2038880760059286 0.195540874370862 0.844969542099939 1.0 0.959223543833702 62 Q9H7D7,O60828,Q71SY5,Q9NPF4,P41227,O15347,P07437,Q15645,Q15555,O43684,O00192,Q96BT7 12 |
| Recurrent otitis media 0.2267902138778132 0.1954186215088978 0.8450652397764862 1.0 0.959223543833702 24 P57076,P41227 2 |
| Multiple joint dislocation 0.4002489884842825 0.1943224402364989 0.8459234157584534 1.0 0.9595051051361908 3 Q96L58,P62879 2 |
| Nasogastric tube feeding 0.2243198991389643 0.1942973935347472 0.8459430264053487 1.0 0.9595051051361908 28 Q71SY5,Q9Y617,Q96C86,P49591,O60524,Q96BT7,Q08J23 7 |
| Abnormality of the parathyroid morphology 0.3230054736068259 0.193188958662421 0.8468109855657253 1.0 0.9597852017802476 8 P10644,Q8NFG4 2 |
| Broad distal phalanx of finger 0.366241046402992 0.1922407815214947 0.8475536025724126 1.0 0.9600647202432162 5 O75369,Q14807,Q96L58,P21333 4 |
| Pterygium 0.2751911540337023 0.1916801561959594 0.8479927508145226 1.0 0.9600647202432162 12 Q9Y617,Q96AY3,Q9NPE3,Q9NX24,O43175 5 |
| Nausea 0.2443717000583931 0.1913457102013625 0.8482547510641345 1.0 0.9600647202432162 19 Q99497,P08397 2 |
| Birth length less than 3rd percentile 0.3658354950835493 0.1912196754777156 0.848353489230854 1.0 0.9600647202432162 5 O43929,P41091 2 |
| Motor polyneuropathy 0.2713438091859998 0.1909857636323312 0.8485367468349581 1.0 0.9600647202432162 13 P49773,P22314,P41250,P08397,P50336 5 |
| Lower limb asymmetry 0.3360826181283948 0.190709251357108 0.848753390189438 1.0 0.9600721966235884 7 P07437,Q15555 2 |
| Inappropriate crying 0.3348308507207055 0.187151382742695 0.8515419421990795 1.0 0.9607316199293032 7 Q9Y617 1 |
| Multifocal epileptiform discharges 0.2185907605505098 0.1856553787370983 0.8527150224755933 1.0 0.9607316199293032 32 Q08J23,Q71SY5,Q96C86,O94903,P49591,O60524,Q96BT7,Q8N0Z6 8 |
| Camptodactyly of toe 0.3337488314116604 0.1841036462003924 0.8539321461189711 1.0 0.9607316199293032 7 Q13642,P21333,Q14738,P15924,P14923,Q8IWS0 6 |
| Abnormal posterior segment imaging 0.3628153223294947 0.1837090639260987 0.8542416979481973 1.0 0.9607316199293032 5 P04439,Q8WWY3,Q96S66,P50213 4 |
| Muscle fiber necrosis 0.394335511982577 0.181425763885478 0.8560333977689987 1.0 0.9609442414373978 3 O60231,P54098 2 |
| Bronchomalacia 0.3777327215394837 0.1809034006674611 0.8564433995482357 1.0 0.9609442414373978 4 O43929 1 |
| Abnormal pineal morphology 0.3612200245252526 0.1798087749259192 0.8573026945048585 1.0 0.9609442414373978 5 Q9H7D7 1 |
| Abnormality of the pineal gland 0.3612200245252526 0.1798087749259192 0.8573026945048585 1.0 0.9609442414373978 5 Q9H7D7 1 |
| Pineal cyst 0.3612200245252526 0.1798087749259192 0.8573026945048585 1.0 0.9609442414373978 5 Q9H7D7 1 |
| Macular coloboma 0.3921568627450947 0.1768077158969991 0.859659428133873 1.0 0.9626416575208068 3 P60891,Q9Y4U1 2 |
| Abnormality of the thymus 0.2626856938615627 0.1726794050232894 0.8629034330018213 1.0 0.9637316238476652 14 Q8TD19,P50542,Q96MG7 3 |
| Aplasia hypoplasia of the thymus 0.2626856938615627 0.1726794050232894 0.8629034330018213 1.0 0.9637316238476652 14 Q8TD19,P50542,Q96MG7 3 |
| Chronic neutropenia 0.3295866460837273 0.1726206338305272 0.8629496319230809 1.0 0.9637316238476652 7 Q7Z2Z2,Q5F1R6,P61011,Q9Y3A5 4 |
| Neoplasm of the genitourinary tract 0.196088226107548 0.1720812414125032 0.8633736599554123 1.0 0.9637316238476652 77 P20585,Q6PD74,Q15645,Q15437,P62899,P62847,Q8NFG4,Q07864,P62913,P12931,O43684,O75874,P42766,P62854,P60866,P62081,P10644,P43246,P62244 19 |
| Dry skin 0.2177015545080196 0.1677961123481843 0.8667436810336939 1.0 0.9658423612883996 30 P42771,P28482,P04080,Q9Y3Z3,Q15650,Q9H4L7,P26639,Q2TAA5,Q02750,Q08J23 10 |
| Leiomyosarcoma 0.2863858367612407 0.1674801007148381 0.866992303713052 1.0 0.9658839435223886 10 P12931 1 |
| Gastrointestinal stroma tumor 0.3711083437110811 0.1661775603578911 0.8680172181445778 1.0 0.966120328465242 4 P21912,P21359,P31040 3 |
| Abnormal platelet function 0.3132460071777883 0.164454965933866 0.869372995974806 1.0 0.9668866093919314 8 P22681,Q06124,P62070 3 |
| Aplasia hypoplasia of the earlobes 0.297918841381353 0.1595537618007969 0.8732326049714134 1.0 0.9689538855241356 9 P52788 1 |
| Coarse hair 0.2308019370640395 0.158864636092175 0.8737755231088356 1.0 0.9689538855241356 21 Q06124,P62070 2 |
| Biliary cirrhosis 0.3241518393181127 0.1582072191842897 0.8742935153117459 1.0 0.9690159170640972 7 P21266 1 |
| Anal stenosis 0.3224477656627674 0.1538245447681505 0.8777480802403412 1.0 0.9711079455371582 7 Q93074 1 |
| Abnormal hair whorl 0.229667129419938 0.1538159799245311 0.8777548336275269 1.0 0.9711079455371582 21 Q93074,P30153,O00232,O75648,O75175,Q96PZ0 6 |
| Primary microcephaly 0.2571676625167138 0.1518438177854038 0.8793101212170198 1.0 0.9720257712413536 14 P63241,Q9Y617,Q9UN37 3 |
| Upper limb amyotrophy 0.243954302458687 0.1498139405017198 0.8809114105598892 1.0 0.973082571469274 17 P49773,P41250,P55072,Q92597 4 |
| Pectus carinatum 0.2094302969185686 0.1491842934857082 0.8814082132813241 1.0 0.973082571469274 34 P22681,Q71SY5,Q06124,Q96AY3,P62070,P52788,Q02750,Q9Y263 8 |
| Slurred speech 0.3197357021848885 0.1469848157612034 0.8831440054087012 1.0 0.973082571469274 7 Q8N0X7,Q69YN2 2 |
| Spondyloepimetaphyseal dysplasia 0.3181888851591611 0.1431584997964875 0.8861650045204892 1.0 0.973082571469274 7 O95340 1 |
| Spondyloepiphyseal dysplasia 0.3741940596992852 0.1415013003391619 0.8874739328571171 1.0 0.9733881080078866 3 Q9NZC9 1 |
| Dilation of lateral ventricles 0.2198138394379666 0.1414653075063682 0.8875023649834355 1.0 0.9733881080078866 23 Q71SY5,Q9Y617,Q05639,Q9UID3 4 |
| Recurrent sinopulmonary infections 0.3170056286547874 0.1402682384640178 0.8884480582258005 1.0 0.9734162657419294 7 P57076 1 |
| Nasogastric tube feeding in infancy 0.2906142812597491 0.1385276041621166 0.8898234549572344 1.0 0.9734162657419294 9 P06753,P61978,O75648,P49711,Q8TD30,Q969N2,P07602,Q9UHX1 8 |
| Infectious encephalitis 0.303558870502057 0.1382595443981537 0.8900352972740311 1.0 0.9734162657419294 8 Q15833,P42224 2 |
| Distal upper limb amyotrophy 0.2570205081788948 0.1382376425417056 0.8900526062241059 1.0 0.9734162657419294 13 P49773,P41250,P55072 3 |
| Chronic oral candidiasis 0.3571574233816879 0.1375737448659294 0.89057730675055 1.0 0.9736495740628472 4 O75083 1 |
| Duplicated collecting system 0.3270058112221823 0.1364516902244645 0.8914642128720163 1.0 0.973920391261469 6 Q9UQ13 1 |
| Curly hair 0.2524241000830737 0.1349148251591792 0.8926792179391692 1.0 0.9743251285470256 14 Q9UQ13 1 |
| Epicanthus inversus 0.3697478991596666 0.1335294412279983 0.8937746820140475 1.0 0.9745184044871829 3 Q7Z6Z7,Q16531 2 |
| Somatic mosaicism 0.3694366635543155 0.1329828243807433 0.8942069640047681 1.0 0.9745184044871829 3 Q9UPY3,P01111 2 |
| Neoplasm of the skin 0.2045728206707893 0.132923005771456 0.8942542723737079 1.0 0.9745184044871829 46 P42771,Q8NFG4,P20585,Q9BUR4,Q6PD74,P42224,Q16658,Q15126,P60866,P14324,P10644,P26639,P43246,Q9H4L7,Q15437 15 |
| Basal ganglia calcification 0.324759803637058 0.1314758537023797 0.8953988867051068 1.0 0.9745184044871829 6 Q9Y3Z3 1 |
| Exercise induced muscle cramps 0.3247460515849663 0.1314457112212206 0.8954227300035371 1.0 0.9745184044871829 6 P08237,P49773,P00558 3 |
| Woolly hair 0.3246105919003135 0.1311490142766986 0.8956574281895944 1.0 0.974541800584298 6 Q96A33,Q6PGP7,Q15477,P15924,P14923 5 |
| Renal hypoplasia aplasia 0.1892422006232891 0.1292464870737898 0.8971626132902581 1.0 0.9757150381512656 82 P41227,P62081,Q2VPK5,P62847,Q6UVJ0,P42766 6 |
| Low levels of vitamin d 0.2868301210580531 0.128220485647186 0.8979744886781089 1.0 0.9757419469812576 9 Q9NSD9,Q5F1R6,P62913,Q7Z2Z2,P61011 5 |
| Low hanging columella 0.273372335953663 0.1274627682122992 0.8985741394398494 1.0 0.9757419469812576 10 O60828,Q96J02,P63000,Q13155 4 |
| Bifid uvula 0.2043623083149942 0.1264188271677078 0.8994003997883677 1.0 0.9757419469812576 37 Q9Y617,P52788,Q92796,P62266,Q9C0B1,P36871,O43175 7 |
| Hypermethioninemia 0.3360936442528482 0.1245899155008923 0.900848212450942 1.0 0.9757419469812576 5 P23526 1 |
| Epiphora 0.3643066189779819 0.1241880859146751 0.9011663552745656 1.0 0.9757419469812576 3 Q9NPE3 1 |
| Abnormal vena cava morphology 0.2586921334295712 0.1241199757983455 0.9012202820593194 1.0 0.9757419469812576 11 Q71SY5,P57076,P11766 3 |
| Neoplasm of the larynx 0.3498408784501426 0.1238877132053998 0.9014041814404125 1.0 0.9757419469812576 4 P43246,P42771 2 |
| Recurrent fractures 0.2031627315576788 0.1235463736680918 0.9016744546626712 1.0 0.9757419469812576 35 O75718,O94855,Q9BUR4,Q96AY3,Q9BZH6,Q13126,Q9NPE3,Q9NX24,P40763,P55072,P52788,O75874 12 |
| Abnormal renal collecting system morphology 0.3094144534222349 0.1224857277375623 0.9025143484975208 1.0 0.9757419469812576 7 Q9UQ13 1 |
| Abnormality of the pulmonary artery 0.2029110526237172 0.1222538715155501 0.9026979630814258 1.0 0.9757419469812576 35 P22681,O75718,P35250,O00232,P41227,O75648,O75175,P62070,Q06124 9 |
| Asthenia 0.3170504044803938 0.1221035999852579 0.9028169708394298 1.0 0.9757419469812576 2 P11586 1 |
| Rib segmentation abnormalities 0.3484719225499991 0.1214275814751725 0.9033523716561392 1.0 0.9757419469812576 4 Q9H3P2 1 |
| Abnormality of abdominal situs 0.3484719225499991 0.1214275814751725 0.9033523716561392 1.0 0.9757419469812576 4 Q9H3P2 1 |
| Hypoplastic pubic rami 0.3484719225499991 0.1214275814751725 0.9033523716561392 1.0 0.9757419469812576 4 Q9H3P2 1 |
| Dental crowding 0.2099130325001237 0.1210528114676437 0.903649205214908 1.0 0.9758045161911988 28 P52788,Q8NFG4,Q93074,P41227 4 |
| Spinal canal stenosis 0.2835698645021257 0.1196631762576614 0.904749971784512 1.0 0.9760788955055336 9 P10644,Q15813,P62070 3 |
| Carcinoma 0.3326378478375854 0.1179182639715074 0.9061324216543836 1.0 0.9763145552316568 5 P43246,Q07864 2 |
| Tachycardia 0.2209469505810709 0.1175451267580922 0.9064280858931426 1.0 0.9763145552316568 21 P08397,P50336,P41227 3 |
| Joint swelling 0.2947566035735013 0.1165036261149012 0.9072534124452052 1.0 0.976696973218802 8 Q96BN8 1 |
| Transposition of the great arteries 0.3170688988625167 0.1152346663794818 0.908259121892814 1.0 0.9775494339938904 6 O43175,P57076 2 |
| Hypocholesterolemia 0.3058147511698322 0.1145140918904375 0.9088302761693968 1.0 0.9775997707212168 7 P48643 1 |
| Shallow acetabular fossae 0.3569872393401779 0.1123398508879988 0.9105539453327872 1.0 0.97806247047001 3 Q9NZC9,Q9NUQ7 2 |
| Severe intrauterine growth retardation 0.3569328327957459 0.1122548482040817 0.9106213413639386 1.0 0.97806247047001 3 Q15813 1 |
| Abnormal anatomic location of the heart 0.2490176352294524 0.1122041552981965 0.910661534526441 1.0 0.97806247047001 13 Q8TD19,P57076 2 |
| Moderate global developmental delay 0.2798130087595983 0.1101741101363479 0.9122712943761052 1.0 0.9789126885960968 9 O43175,O95394 2 |
| Metaphyseal chondrodysplasia 0.3273521873190115 0.1081461618851868 0.9138797509647568 1.0 0.9799071878160692 5 Q5F1R6,P61011,Q7Z2Z2 3 |
| Spastic ataxia 0.3127725856697876 0.1066990926099629 0.9150277024907496 1.0 0.9801711068506084 6 Q96GW9,Q9Y4W6,Q86SX6,Q6PI48,Q15813 5 |
| Systemic lupus erythematosus 0.3124610591900362 0.1060951165492007 0.91550688570766 1.0 0.9801711068506084 6 P49327,Q05655,P12955,P29144,P00491 5 |
| Myoglobinuria 0.2650182388287219 0.1045722297728038 0.9167152512912012 1.0 0.9801711068506084 10 P04075,P00338 2 |
| Short thumb 0.2000195355313502 0.1025488756554971 0.9183210201362388 1.0 0.9801711068506084 39 P61353,P62273,P62913,O00232,P60866,P62854,Q13363,P62899,P62081,Q9H3P2,P62847,P46777,P08708,P62244,P42766 15 |
| Abnormal morphology of the musculature of the neck 0.2448916896569979 0.0997636599407291 0.9205319592386524 1.0 0.9810774153411892 13 Q8TD19,P41227 2 |
| Abnormality of the columella 0.2300354123732213 0.0993408201642847 0.9208676688867904 1.0 0.9810774153411892 17 O60828,P36543,Q96J02,P41227 4 |
| Broad toe 0.2047688391357736 0.0986577053580878 0.9214100512053656 1.0 0.9810774153411892 28 Q93074,P30153,O60826,O00232,P41227,O75648,O75175,Q96PZ0 8 |
| Profound hearing impairment 0.3213952039862998 0.0977565259576113 0.922125629232375 1.0 0.9813866896482134 5 P60891,P35241,Q15046,P54577 4 |
| Abnormal immune system morphology 0.1778824086176413 0.0951983671133478 0.9241572669528568 1.0 0.981945203279482 153 P22681,Q15833,Q15477,Q15645,Q13951,P21359,P11586,P11413,Q02750,Q13546,O95817,P28070,P42224,Q96BN8,P62899,P62263,Q9NZC9,P62847,P40763,P48637,P46777,P42771,Q96EY8,Q9Y3Z3,Q96MG7,P62913,Q5F1R6,O00203,Q7Z2Z2,Q9NVI1,Q9NX24,Q9NPE3,O95394,O43684,Q96J02,P42766,Q08J23,P62070,O95551,P61353,P62273,Q9BUR4,Q99961,O75083,P31146,P62854,P60866,P62081,P10644,P33991,P26639,P62244,P11766,P08708,P43246,Q06124,P00491 57 |
| Broad eyebrow 0.2433183545116657 0.0951961718695235 0.9241590105852322 1.0 0.981945203279482 13 O75648,P63241 2 |
| Distal sensory impairment of all modalities 0.3063598770126803 0.0946720419914476 0.9245753254690618 1.0 0.981945203279482 6 P48643 1 |
| Hemoptysis 0.3179107334571649 0.0919833829668207 0.9267112420859104 1.0 0.9832230466176544 5 Q9NZ08 1 |
| Recurrent hand flapping 0.3303237858032353 0.0917870207544061 0.9268672564650328 1.0 0.9832230466176544 4 P55795,Q06787,Q05086 3 |
| Abnormality of limb epiphysis morphology 0.2034567341731893 0.0914616047081015 0.9271258133277952 1.0 0.9832230466176544 27 P26373,Q5F1R6,Q7Z2Z2,Q13363,P10644,Q9NZC9,P61011,P50542 8 |
| Abnormal neural tube morphology 0.1967185092245083 0.0877978607945927 0.9300373380393508 1.0 0.9840692750733504 38 Q9Y617,P35250,Q14999,Q8TD19,Q06124,O00192,Q08J23 7 |
| Aplastic anemia 0.256961860933974 0.084587924006005 0.932588999904683 1.0 0.9842791828530684 10 O76094,Q5F1R6,Q7Z2Z2,Q9NPE3,Q9NX24 5 |
| Pneumothorax 0.2799570049980128 0.0843440398894517 0.9327828983557988 1.0 0.9842791828530684 8 P36543,Q8NFG4 2 |
| Hereditary nonpolyposis colorectal carcinoma 0.256683526489573 0.0839340966271852 0.9331088300115344 1.0 0.9842791828530684 10 P12931 1 |
| Cerebral dysmyelination 0.2904331567466575 0.0837825380307241 0.933229331832336 1.0 0.9842791828530684 7 P51659,P18074,P26639,P07602,O43175,P19447 6 |
| Vertebral compression fracture 0.2287592803723837 0.0837313484268925 0.933270032215052 1.0 0.9842791828530684 16 O75718,Q5F1R6,Q96AY3,Q7Z2Z2,P13797 5 |
| Profound sensorineural hearing impairment 0.3212951432129492 0.0790662732317469 0.9369799095642022 1.0 0.9855915064128578 4 P60891,P35241,Q15046 3 |
| Acute hepatic failure 0.2661146483166468 0.0789437350149887 0.9370773762568978 1.0 0.9855915064128578 9 O75648 1 |
| Skin erosion 0.2871616732812787 0.0779361773369725 0.9378788215649956 1.0 0.9858248708086574 7 Q8NCW5 1 |
| Bronchospasm 0.3082495898432829 0.0771348641477026 0.9385162580309144 1.0 0.9858405516225596 5 P26639,Q9UER7 2 |
| Abnormal bronchus physiology 0.3082495898432829 0.0771348641477026 0.9385162580309144 1.0 0.9858405516225596 5 P26639,Q9UER7 2 |
| Flat occiput 0.2365361294299692 0.0766201450641377 0.9389257326184468 1.0 0.98588421579021 13 P62266,P50542 2 |
| Heterotaxy 0.2956223284450125 0.0764248039230313 0.9390811366332474 1.0 0.98588421579021 6 Q13363,Q9H3P2 2 |
| T cell lymphoma 0.3059972608558305 0.0739144500767637 0.9410784578030948 1.0 0.9866934146607964 5 Q07864 1 |
| Bone marrow hypocellularity 0.1988336729834217 0.0730075006239959 0.9418001488065588 1.0 0.9866934146607964 26 O76094,Q9BUR4,Q5F1R6,Q7Z2Z2,P62263,Q9NVI1,Q9NX24,Q9NZC9,Q9NPE3,Q6NZY4,O95394,P11766 12 |
| Abnormality of chromosome segregation 0.2933575207613641 0.0728738907387198 0.9419064708595776 1.0 0.9866934146607964 6 Q15437 1 |
| Abnormality of prothrombin 0.2510917030567816 0.0713129477696722 0.9431486906363666 1.0 0.9866934146607964 10 Q16836,Q5XKP0,P35914,Q7Z2Z2,P40939,Q9Y223,P49257,Q9H845,P23526 9 |
| Decreased lacrimation 0.2919003115264845 0.0706432516827165 0.943681686514797 1.0 0.9866934146607964 6 Q7Z392,P55011,Q96IJ6,Q10567,O95163 5 |
| Slender finger 0.1924398669118542 0.0697025054615604 0.9444304475644908 1.0 0.9869665239637146 45 O60828,Q93074,Q9NPF4,P46109,Q9H3P2,P52788,O00192 7 |
| Abnormal tricuspid valve morphology 0.2347066167290871 0.0656416467743227 0.9476631312641464 1.0 0.9888716906425664 12 Q9NX14,P21333,O60826,Q6DKJ4,P53992,P24468,P53701,O00192,P21964,Q12768,Q92890 11 |
| Progressive proximal muscle weakness 0.3208137206380579 0.0655071200861515 0.9477702375054406 1.0 0.9888716906425664 3 O14908 1 |
| Progressive leukoencephalopathy 0.3187052598817273 0.0633509739497796 0.9494870259042152 1.0 0.9888716906425664 3 Q9Y263,P31040 2 |
| Hemoglobinuria 0.3165266106442574 0.0611855965255307 0.9512114005476988 1.0 0.989528291284372 3 P11413,O14936 2 |
| Severe combined immunodeficiency 0.2829568106808489 0.0578654183598838 0.9538558290968256 1.0 0.9899709437423068 6 O95394,P00491 2 |
| Ineffective esophageal peristalsis 0.2829413936840942 0.0578447267746663 0.9538723109859462 1.0 0.9899709437423068 6 P40763 1 |
| Hypoplastic aortic arch 0.3016811955168094 0.055853301085752 0.9554586730524794 1.0 0.9899709437423068 4 Q6W2J9,Q9UHX1,P30153 3 |
| Alacrima 0.2918094051697318 0.055659785762844 0.9556128361238576 1.0 0.9899709437423068 5 Q7Z392,O95163,Q96IJ6,P55011 4 |
| Movement abnormality of the tongue 0.2913652344157494 0.0551434772320202 0.9560241589949972 1.0 0.9899709437423068 5 P04350 1 |
| Developmental cataract 0.1823642719952178 0.0536815106823286 0.9571889138966676 1.0 0.9899709437423068 55 Q71SY5,P61353,P62913,Q9UN37,P60866,P62854,P62899,P62081,P26639,P62847,P08708,P42766,P62244,O43175,P50542,P17980 16 |
| Full cheeks 0.1868663870926728 0.0500960894959917 0.9600458159575452 1.0 0.9899709437423068 36 Q9H7D7,P41091,P10412,Q00535,Q8TD19,Q15813,Q02750 7 |
| Aniridia 0.2296534669479751 0.0500115173464804 0.9601132102926746 1.0 0.9899709437423068 11 P21359,Q96EB1,Q15645 3 |
| Combined immunodeficiency 0.2691919635678589 0.0500013472711468 0.960121314699313 1.0 0.9899709437423068 7 O95394,P00491 2 |
| Intrinsic hand muscle atrophy 0.295469441306866 0.0496992097416536 0.9603620862178202 1.0 0.9899709437423068 4 P49773 1 |
| Abnormal pulmonary valve physiology 0.1872488021257538 0.0489398262491896 0.9609672501150872 1.0 0.9899709437423068 38 Q86TI2,P35250,Q9UQ13,Q06124,Q02750 5 |
| Deeply set eye 0.1790523583005843 0.0475679455201557 0.9620605788673342 1.0 0.9899709437423068 74 Q9Y3C4,Q9NSD9,Q96C86,Q13363,Q96PZ0,Q05639,P21359,Q8IWS0,P28482,Q9Y285,O60701,P40763,Q9NPF4,P46109,O75175,Q15813,P12931,Q06787,Q9BPU6,O00232,P63241,Q96BT7 22 |
| Severe global developmental delay 0.1800388784764343 0.0474753769282689 0.962134354566404 1.0 0.9899709437423068 62 Q9H7D7,Q71SY5,P41091,P15104,Q9BPU6,Q14353,Q9UN37,O00232,O60701,O75648,O75175,Q96PZ0,P40855,O43175,Q13885,P50542,Q9UID3 17 |
| Abnormal circulating methionine concentration 0.2665457503688502 0.0464657387225008 0.9629390411157333 1.0 0.9899709437423068 7 P23526 1 |
| Subcortical heterotopia 0.2981637099284178 0.0453495618706591 0.9638286833866674 1.0 0.9899709437423068 3 P43034,O00139 2 |
| Subcortical band heterotopia 0.2981637099284178 0.0453495618706591 0.9638286833866674 1.0 0.9899709437423068 3 P43034,O00139 2 |
| Increased muscle fatiguability 0.2886052303860496 0.0435272676577105 0.9652812286719452 1.0 0.9899709437423068 4 Q7Z392,P00558,P24468 3 |
| Exercise induced muscle fatigue 0.2886052303860496 0.0435272676577105 0.9652812286719452 1.0 0.9899709437423068 4 Q7Z392,P00558,P24468 3 |
| Bilateral microphthalmos 0.2796636561818776 0.0426916580067298 0.965947329454867 1.0 0.9902097427535764 5 Q9UHX1,P18074,P26639,P19447 4 |
| Cutaneous syndactyly of toes 0.2859093559826678 0.0412772648310692 0.9670748576565222 1.0 0.990361590819564 4 Q9H4L7 1 |
| Turricephaly 0.2215445942544824 0.0376878774289235 0.9699365415414516 1.0 0.9914329126668416 12 P50542 1 |
| Abnormality of renal excretion 0.2585866716073032 0.0366816205073085 0.9707388634902884 1.0 0.991563652517119 7 P07741 1 |
| Muscle fibrillation 0.2129490496222371 0.0351784043750523 0.971937482383235 1.0 0.9921529946507872 15 P49773,Q16637,P41250,Q9NX46 4 |
| Progressive encephalopathy 0.2810457516339821 0.0341439442629271 0.972762366443234 1.0 0.9924385755361989 3 Q15813,Q9P2R7 2 |
| Short palm 0.19161399622829 0.0339737172913936 0.9728981091616072 1.0 0.9924385755361989 22 P10644,P46109,Q15555 3 |
| Hypophosphatemia 0.258255451713402 0.0302564136279226 0.975862557529752 1.0 0.9939099265749768 6 P01111,P16930,O14745,P53680,Q6P1J9 5 |
| Broad phalanx of the toes 0.2568316352504204 0.0289836196605702 0.9768776547237928 1.0 0.9942687624290631 6 Q71SY5 1 |
| Bowing of the legs 0.1812344396451215 0.0287798577957016 0.9770401653759112 1.0 0.9942687624290631 47 O75718,Q8N0X7,P35250,O95340,Q13126,Q8TD19,Q02750 7 |
| Wide nasal ridge 0.2661892901618902 0.0275767063152575 0.9779997602663292 1.0 0.9948391376929308 4 P61978,O14802,P27635 3 |
| Rhabdomyolysis 0.2113449644586354 0.0268540642056059 0.9785761317439354 1.0 0.9950874645601588 14 P04075,P00338 2 |
| Abnormal peristalsis 0.2491119827026887 0.0266231858589043 0.9787602801711824 1.0 0.9950874645601588 7 P40763 1 |
| Follicular hyperkeratosis 0.2529595015576386 0.0256840990736126 0.979509306775123 1.0 0.9956275386411136 6 Q9H488,Q02809,Q15650,P26639,Q02487 5 |
| Immunodeficiency 0.1748554342596036 0.0245449565328 0.9804179243761808 1.0 0.9958731740551844 64 Q15477,Q13363,P11586,Q15437,P28482,P42224,P14174,Q9NZC9,P60891,O00192,Q07864,P46109,Q5F1R6,Q7Z2Z2,Q9NPE3,Q9NX24,O95394,Q15813,Q9BUR4,P21266,P31146,P61011,P13051,P00491 24 |
| Hyperhidrosis 0.1813383699594947 0.0227466963681379 0.9818523271432956 1.0 0.996360343606294 30 P49773,Q9NPE3,Q9H0B6,P08397,Q02750,P35270,Q9Y263 7 |
| Mandibular aplasia 0.2562266500622638 0.0223208505514044 0.9821920166899938 1.0 0.996360343606294 4 O15111,O43929,Q9NX14 3 |
| Glaucoma 0.1715422887647682 0.0216933129297729 0.9826925980280404 1.0 0.9964258796775008 89 Q15555,Q9Y3Z3,P35250,O60826,P62913,P62854,P41227,P62081,P62899,P60866,P62847,Q15645,O43684,P40855,O00192,P50542,P42766 17 |
| Elevated gamma glutamyltransferase level 0.2505446623093651 0.0211212070905368 0.9831489678556298 1.0 0.9966675387154764 3 Q5XKP0,P09001 2 |
| Postural instability 0.1956153529658419 0.0205767735384394 0.983583268574606 1.0 0.9967680970648964 18 Q99497,Q99700,Q96T60,P41250 4 |
| Abnormality of vitamin b metabolism 0.20768269831355 0.0204501363387478 0.9836842891839308 1.0 0.9967680970648964 14 P51610,P49327,Q96EY8,Q01082,Q05655,Q4G176,Q99707,P22033,Q9P2R7,Q9Y4U1,P11586,P53597,P10515 13 |
| Neonatal onset 0.1874769079131939 0.0196676611196758 0.984308488475654 1.0 0.9970879398003984 21 P52565,Q96EY8,P40763 3 |
| Pulmonic stenosis 0.1777641275999631 0.0194769720595767 0.9844606071931172 1.0 0.9970879398003984 34 P35250,O60826,Q9UQ13,Q8TD19,Q06124,Q02750 6 |
| Quadriceps muscle weakness 0.2439252336448655 0.018864986724824 0.9849488111133664 1.0 0.9971652304760128 6 Q96RR1,P55072,P12235,Q9UHN1,P54098 5 |
| Anterior rib cupping 0.2414193093889773 0.0162548411770435 0.987031084296568 1.0 0.9988308803009988 4 Q5F1R6,P61011 2 |
| High forehead 0.1692263695448834 0.014989816940383 0.9880403043755456 1.0 0.9992201495621852 94 P22681,Q71SY5,P28482,Q93074,P35250,P57081,O00232,O75648,Q9H3P2,O75175,Q15645,Q05639,P40855,O43684,Q06124,Q02750,P50542,P62070 18 |
| Brittle hair 0.1992564180526806 0.014950646218514 0.9880715545878532 1.0 0.9992201495621852 16 O60828,P18074,Q15477,P62266,P26639,P49589,Q02750 7 |
| Abnormal femoral head morphology 0.1921956939220059 0.014442052853187 0.988477309557011 1.0 0.9994093744713776 18 Q5F1R6,Q7Z2Z2,Q9NZC9,P61011,P50542 5 |
| Pallor 0.1768002203735213 0.014082018699027 0.988764546034177 1.0 0.999478712941668 46 P61353,P62273,P62913,P60866,P62854,P62899,P62081,P62847,P21359,P46777,P08708,P11413,P62244,P42766 14 |
| Abnormality of vitamin b12 metabolism 0.2078003120124783 0.0132022119000457 0.989466464953777 1.0 0.9996542270328032 11 P51610,P49327,Q96EY8,Q05655,Q4G176,Q99707,Q9P2R7,Q9Y4U1,P11586,P53597 10 |
| Dyskinesia 0.1715933983595668 0.0120849892843503 0.9903578083352598 1.0 0.9996542270328032 65 Q08J23,Q71SY5,Q16658,Q96C86,P60866,O60524,Q96T60,Q05639,P49591,Q99497,P43246,Q96BT7,Q8N0Z6 13 |
| Neoplasm of head and neck 0.206807877607642 0.0118820140646111 0.9905197475010384 1.0 0.9996542270328032 11 Q6PD74,P42224 2 |
| Abnormality of the nasolabial region 0.2299315288193535 0.0108084464493646 0.9913762753596472 1.0 0.9996542270328032 5 P36543 1 |
| Prominent nasolabial fold 0.2299315288193535 0.0108084464493646 0.9913762753596472 1.0 0.9996542270328032 5 P36543 1 |
| Abnormal tongue physiology 0.1933798167719823 0.0105750137824042 0.991562517034944 1.0 0.9996542270328032 17 P04350,Q9NX46,Q16637,P55072,O14908 5 |
| Aplasia hypoplasia involving the carpal bones 0.2242292120834659 0.0088637835513421 0.9929278165605108 1.0 1.0 5 Q14807,Q9Y5S9,P54886,Q9NR45 4 |
| Abnormal salivary gland morphology 0.2202055965401573 0.0076500992448878 0.9938961634607928 1.0 1.0 5 P43246 1 |
| Retinal dysplasia 0.220941103147402 0.005635373733637 0.995503646102369 1.0 1.0 7 Q9NX14,P52732,O43505,O75369,P07437,P53701 6 |
| Distal upper limb muscle weakness 0.2187358201178451 0.0055691581204487 0.99555647768873 1.0 1.0 8 P55072,Q92597 2 |
| Abnormality of earlobe 0.1724010546231833 0.0028290211032394 0.9977427707504434 1.0 1.0 26 P46109 1 |
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