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: C3278404
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 		3 0 3 0.30 0 0
CUI: C1861226
Disease: Small abnormally formed scapulae
Small abnormally formed scapulae 		2 0 2 0.20 0 0
CUI: C3278429
Disease: Bilateral elbow dislocations
Bilateral elbow dislocations 		2 0 2 0.20 0 0
CUI: C0241395
Disease: Spatulate thumbs
Spatulate thumbs 		3 0 2 0.18 0 0
CUI: C4024174
Disease: Broad distal phalanges of all fingers
Broad distal phalanges of all fingers 		3 0 2 0.18 0 0
CUI: C1855544
Disease: Enlarged metaphyses
Enlarged metaphyses 		4 0 2 0.17 0 0
CUI: C3553368
Disease: Limited hip extension
Limited hip extension 		4 0 2 0.17 0 0
CUI: C0265642
Disease: Talipes Equinovalgus
Talipes Equinovalgus 		6 0 2 0.14 0 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		25 0 4 0.13 0 0
CUI: C1857002
Disease: Capitate-hamate fusion
Capitate-hamate fusion 		8 0 2 0.12 0 0
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		17 0 3 0.12 0 0
CUI: C4021774
Disease: Camptodactyly of toe
Camptodactyly of toe 		9 0 2 0.12 0 0
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment 		20 0 3 0.11 0 0
CUI: C1335473
Disease: Primary chondrosarcoma of bone
Primary chondrosarcoma of bone 		10 0 2 0.11 0 0
CUI: C0152091
Disease: Osteochondropathy
Osteochondropathy 		1 0 1 1.0E-01 0 0
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		1 0 1 1.0E-01 0 0
CUI: C0342826
Disease: 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 		1 0 1 1.0E-01 0 0
CUI: C0410654
Disease: Instability of atlantooccipital joint
Instability of atlantooccipital joint 		1 0 1 1.0E-01 0 0
CUI: C0432125
Disease: Bicoronal craniosynostosis
Bicoronal craniosynostosis 		1 0 1 1.0E-01 0 0
CUI: C0432361
Disease: Diffuse neurofibroma
Diffuse neurofibroma 		1 0 1 1.0E-01 0 0
CUI: C1096121
Disease: Skeleton dysplasia
Skeleton dysplasia 		1 0 1 1.0E-01 0 0
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		1 0 1 1.0E-01 0 0
CUI: C1844516
Disease: Increased density of long bone diaphyses
Increased density of long bone diaphyses 		1 0 1 1.0E-01 0 0
CUI: C1844519
Disease: Partial fusion of carpals
Partial fusion of carpals 		1 0 1 1.0E-01 0 0
CUI: C1844520
Disease: Partial fusion of tarsals
Partial fusion of tarsals 		1 0 1 1.0E-01 0 0