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: C0342826
Disease: 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 		1 0 1 0.50 0 0
CUI: C1096121
Disease: Skeleton dysplasia
Skeleton dysplasia 		1 0 1 0.50 0 0
CUI: C2931649
Disease: Larsen syndrome, recessive type
Larsen syndrome, recessive type 		1 0 1 0.50 0 0
CUI: C4025044
Disease: Fixed elbow flexion
Fixed elbow flexion 		1 0 1 0.50 0 0
CUI: C0009701
Disease: Congenital dislocation
Congenital dislocation 		2 0 1 0.33 0 0
CUI: C0409346
Disease: Contracture of joint of thumb
Contracture of joint of thumb 		2 1 1 0.33 1 1.00
CUI: C1835573
Disease: Multiple carpal ossification centers
Multiple carpal ossification centers 		2 0 1 0.33 0 0
CUI: C3278429
Disease: Bilateral elbow dislocations
Bilateral elbow dislocations 		2 0 1 0.33 0 0
CUI: C4021515
Disease: Deviation of the 5th finger
Deviation of the 5th finger 		2 0 1 0.33 0 0
CUI: C0241395
Disease: Spatulate thumbs
Spatulate thumbs 		3 0 1 0.25 0 0
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		3 0 1 0.25 0 0
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 1 0.25 0 0
CUI: C4024174
Disease: Broad distal phalanges of all fingers
Broad distal phalanges of all fingers 		3 0 1 0.25 0 0
CUI: C4538570
Disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY 		3 6 1 0.25 1 0.17
CUI: C0263870
Disease: Narrowing of intervertebral disc space
Narrowing of intervertebral disc space 		4 0 1 0.20 0 0
CUI: C1855544
Disease: Enlarged metaphyses
Enlarged metaphyses 		4 0 1 0.20 0 0
CUI: C3553368
Disease: Limited hip extension
Limited hip extension 		4 0 1 0.20 0 0
CUI: C1836589
Disease: Decreased hip abduction
Decreased hip abduction 		5 0 1 0.17 0 0
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion 		5 2 1 0.17 1 0.50
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		6 0 1 0.14 0 0
CUI: C0265642
Disease: Talipes Equinovalgus
Talipes Equinovalgus 		6 0 1 0.14 0 0
CUI: C1832598
Disease: Narrow vertebral interpedicular distance
Narrow vertebral interpedicular distance 		6 0 1 0.14 0 0
CUI: C3279322
Disease: Progressive flexion contractures
Progressive flexion contractures 		6 0 1 0.14 0 0
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus 		6 0 1 0.14 0 0
CUI: C0017567
Disease: Gingival Hypertrophy
Gingival Hypertrophy 		7 0 1 0.12 0 0