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: C0333662
Disease: Hemiatrophy
Hemiatrophy 		1 0 1 0.50 0 0
CUI: C1840013
Disease: Elevated 8-dehydrocholesterol
Elevated 8-dehydrocholesterol 		1 0 1 0.50 0 0
CUI: C1840014
Disease: Elevated 8(9)-cholestenol
Elevated 8(9)-cholestenol 		1 0 1 0.50 0 0
CUI: C1844846
Disease: Stippled calcification in carpal bones
Stippled calcification in carpal bones 		1 0 1 0.50 0 0
CUI: C1844848
Disease: Tarsal stippling
Tarsal stippling 		1 0 1 0.50 0 0
CUI: C2610861
Disease: 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity 		1 0 1 0.50 0 0
CUI: C3151781
Disease: CK syndrome
CK syndrome 		1 0 1 0.50 0 0
CUI: C4016464
Disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL 		1 0 1 0.50 0 0
CUI: C4024153
Disease: Asymmetry of the mouth
Asymmetry of the mouth 		1 0 1 0.50 0 0
CUI: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		6 0 2 0.33 0 0
CUI: C0271402
Disease: Scleral abscess
Scleral abscess 		2 0 1 0.33 0 0
CUI: C0346054
Disease: Verruciform xanthoma of skin
Verruciform xanthoma of skin 		2 0 1 0.33 0 0
CUI: C4024678
Disease: Punctate vertebral calcifications
Punctate vertebral calcifications 		2 0 1 0.33 0 0
CUI: C1844853
Disease: Brachytelephalangic Chondrodysplasia Punctata
Brachytelephalangic Chondrodysplasia Punctata 		7 0 2 0.29 0 0
CUI: C0264324
Disease: Calcification of trachea
Calcification of trachea 		3 0 1 0.25 0 0
CUI: C1840006
Disease: Mild intrauterine growth retardation
Mild intrauterine growth retardation 		3 0 1 0.25 0 0
CUI: C1846421
Disease: Lathosterolosis
Lathosterolosis 		3 0 1 0.25 0 0
CUI: C1849993
Disease: Calcific stippling
Calcific stippling 		3 0 1 0.25 0 0
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		3 0 1 0.25 0 0
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		9 0 2 0.22 0 0
CUI: C0265374
Disease: Warfarin syndrome
Warfarin syndrome 		4 0 1 0.20 0 0
CUI: C1291601
Disease: Deficiency of isomerase
Deficiency of isomerase 		4 0 1 0.20 0 0
CUI: C1844831
Disease: Cleft Palate with Ankyloglossia
Cleft Palate with Ankyloglossia 		4 0 1 0.20 0 0
CUI: C4551464
Disease: Aplasia/hypoplasia of the extremities
Aplasia/hypoplasia of the extremities 		4 0 1 0.20 0 0
CUI: C0013911
Disease: Emaciation
Emaciation 		6 0 1 0.14 0 0