Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		7 0 7 0.54 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 7 0.47 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 7 0.41 0 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference 		11 0 7 0.41 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 0 7 0.25 0 0
CUI: C1869114
Disease: Weill-Marchesani Syndrome, Autosomal Recessive
Weill-Marchesani Syndrome, Autosomal Recessive 		3 0 3 0.23 0 0
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		3 0 3 0.23 0 0
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		28 0 7 0.21 0 0
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		5 0 3 0.20 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 7 0.20 0 0
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		5 0 3 0.20 0 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 7 0.19 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 7 0.17 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 7 0.16 0 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		38 0 7 0.16 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 0 7 0.16 0 0
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		9 0 3 0.16 0 0
CUI: C4552002
Disease: WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 1 		2 0 2 0.15 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 7 0.15 0 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		43 0 7 0.14 0 0
CUI: C0424693
Disease: Broad skull
Broad skull 		3 0 2 0.14 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 7 0.14 0 0
CUI: C4021391
Disease: Broad phalanges of the hand
Broad phalanges of the hand 		4 0 2 0.13 0 0
CUI: C0229197
Disease: Retinal fold (finding)
Retinal fold (finding) 		5 0 2 0.12 0 0
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated 		5 0 2 0.12 0 0