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: C0205766
Disease: Myxofibroma
Myxofibroma 		7 0 1 0.12 0 0
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		7 0 1 0.12 0 0
CUI: C0278152
Disease: Hemifacial Spasm
Hemifacial Spasm 		8 0 1 0.11 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 1.0E-01 0 0
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		9 0 1 1.0E-01 0 0
CUI: C0555232
Disease: pseudohermaphrodite (non-specific)
pseudohermaphrodite (non-specific) 		9 0 1 1.0E-01 0 0
CUI: C1855538
Disease: Small face
Small face 		10 0 1 9.1E-02 0 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		10 0 1 9.1E-02 0 0
CUI: C1834954
Disease: Coronal cleft vertebrae
Coronal cleft vertebrae 		11 0 1 8.3E-02 0 0
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		11 0 1 8.3E-02 0 0
CUI: C1857527
Disease: Flattened epiphysis
Flattened epiphysis 		11 0 1 8.3E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 1 8.3E-02 0 0
CUI: C1834124
Disease: Shield chest
Shield chest 		12 0 1 7.7E-02 0 0
CUI: C1865847
Disease: Ulnar bowing
Ulnar bowing 		12 0 1 7.7E-02 0 0
CUI: C4023588
Disease: Abnormality of the gastrointestinal tract
Abnormality of the gastrointestinal tract 		14 0 1 6.7E-02 0 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		15 0 1 6.2E-02 0 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		15 0 1 6.2E-02 0 0
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		15 0 1 6.2E-02 0 0
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		16 4 1 5.9E-02 1 0.25
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		16 0 1 5.9E-02 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 2 1 5.9E-02 1 0.50
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		16 0 1 5.9E-02 0 0
CUI: C0037293
Disease: Skin tag
Skin tag 		17 1 1 5.6E-02 1 1.00
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		17 0 1 5.6E-02 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 0 1 5.3E-02 0 0