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: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		16 0 5 0.25 0 0
CUI: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		6 14 3 0.25 1 1.9E-02
CUI: C1844853
Disease: Brachytelephalangic Chondrodysplasia Punctata
Brachytelephalangic Chondrodysplasia Punctata 		7 0 3 0.23 0 0
CUI: C0263627
Disease: Calcinosis universalis
Calcinosis universalis 		2 0 2 0.22 0 0
CUI: C1849993
Disease: Calcific stippling
Calcific stippling 		3 0 2 0.20 0 0
CUI: C4551464
Disease: Aplasia/hypoplasia of the extremities
Aplasia/hypoplasia of the extremities 		4 0 2 0.18 0 0
CUI: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic 		8 0 2 0.13 0 0
CUI: C0152091
Disease: Osteochondropathy
Osteochondropathy 		1 0 1 0.11 0 0
CUI: C0153614
Disease: Malignant neoplasm of ureteric orifice
Malignant neoplasm of ureteric orifice 		1 0 1 0.11 0 0
CUI: C0270709
Disease: Rud Syndrome
Rud Syndrome 		1 0 1 0.11 0 0
CUI: C0333662
Disease: Hemiatrophy
Hemiatrophy 		1 0 1 0.11 0 0
CUI: C0432125
Disease: Bicoronal craniosynostosis
Bicoronal craniosynostosis 		1 0 1 0.11 0 0
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		1 0 1 0.11 0 0
CUI: C1304147
Disease: Retention hyperkeratosis
Retention hyperkeratosis 		1 0 1 0.11 0 0
CUI: C1840013
Disease: Elevated 8-dehydrocholesterol
Elevated 8-dehydrocholesterol 		1 0 1 0.11 0 0
CUI: C1840014
Disease: Elevated 8(9)-cholestenol
Elevated 8(9)-cholestenol 		1 0 1 0.11 0 0
CUI: C1844529
Disease: Midclavicular aplasia
Midclavicular aplasia 		1 0 1 0.11 0 0
CUI: C1844846
Disease: Stippled calcification in carpal bones
Stippled calcification in carpal bones 		1 0 1 0.11 0 0
CUI: C1844848
Disease: Tarsal stippling
Tarsal stippling 		1 0 1 0.11 0 0
CUI: C1848108
Disease: Long ulna
Long ulna 		1 0 1 0.11 0 0
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 		1 0 1 0.11 0 0
CUI: C1857242
Disease: Rhizomelic chondrodysplasia punctata, type 2
Rhizomelic chondrodysplasia punctata, type 2 		1 0 1 0.11 0 0
CUI: C1857243
Disease: Stippled calcification proximal humeral epiphyses
Stippled calcification proximal humeral epiphyses 		1 0 1 0.11 0 0
CUI: C1861213
Disease: Wide-cupped costochondral junctions
Wide-cupped costochondral junctions 		1 0 1 0.11 0 0
CUI: C1863423
Disease: Lumbar kyphosis in infancy
Lumbar kyphosis in infancy 		1 0 1 0.11 0 0