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: C0241395
Disease: Spatulate thumbs
Spatulate thumbs 		3 0 3 0.50 0 0
CUI: C0009701
Disease: Congenital dislocation
Congenital dislocation 		2 0 2 0.33 0 0
CUI: C1835573
Disease: Multiple carpal ossification centers
Multiple carpal ossification centers 		2 0 2 0.33 0 0
CUI: C3278429
Disease: Bilateral elbow dislocations
Bilateral elbow dislocations 		2 0 2 0.33 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 2 0.29 0 0
CUI: C4024174
Disease: Broad distal phalanges of all fingers
Broad distal phalanges of all fingers 		3 0 2 0.29 0 0
CUI: C1855544
Disease: Enlarged metaphyses
Enlarged metaphyses 		4 0 2 0.25 0 0
CUI: C1856732
Disease: Aplasia/Hypoplasia of the fibula
Aplasia/Hypoplasia of the fibula 		5 0 2 0.22 0 0
CUI: C1860105
Disease: Severe short-limb dwarfism
Severe short-limb dwarfism 		5 0 2 0.22 0 0
CUI: C4025675
Disease: Abnormality of the radius
Abnormality of the radius 		5 0 2 0.22 0 0
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		6 0 2 0.20 0 0
CUI: C0265669
Disease: Congenital dislocation of knee
Congenital dislocation of knee 		1 0 1 0.17 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 0.17 0 0
CUI: C0410654
Disease: Instability of atlantooccipital joint
Instability of atlantooccipital joint 		1 0 1 0.17 0 0
CUI: C0431289
Disease: Frontal Encephalocele
Frontal Encephalocele 		1 0 1 0.17 0 0
CUI: C0432201
Disease: Boomerang dysplasia
Boomerang dysplasia 		1 0 1 0.17 0 0
CUI: C0478074
Disease: Other congenital malformations of spine, not associated with scoliosis
Other congenital malformations of spine, not associated with scoliosis 		1 0 1 0.17 0 0
CUI: C1096121
Disease: Skeleton dysplasia
Skeleton dysplasia 		1 0 1 0.17 0 0
CUI: C1306065
Disease: DEVELOPMENTAL DYSPLASIA OF THE HIP 1
DEVELOPMENTAL DYSPLASIA OF THE HIP 1 		1 0 1 0.17 0 0
CUI: C1739384
Disease: Angel shaped phalangoepiphyseal dysplasia
Angel shaped phalangoepiphyseal dysplasia 		1 0 1 0.17 0 0
CUI: C1840555
Disease: Hip Dysplasia, Congenital, Nonsyndromic
Hip Dysplasia, Congenital, Nonsyndromic 		1 0 1 0.17 0 0
CUI: C1849316
Disease: Premature separation of centromeric heterochromatin
Premature separation of centromeric heterochromatin 		1 0 1 0.17 0 0
CUI: C1849370
Disease: Tetraphocomelia
Tetraphocomelia 		1 0 1 0.17 0 0
CUI: C1856742
Disease: Malaligned carpal bone
Malaligned carpal bone 		1 0 1 0.17 0 0
CUI: C1856746
Disease: Deformed tarsal bones
Deformed tarsal bones 		1 0 1 0.17 0 0