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: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		1 7 1 0.50 2 0.25
CUI: C1834569
Disease: Jankovic Rivera syndrome
Jankovic Rivera syndrome 		1 0 1 0.50 0 0
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		1 6 1 0.50 2 0.29
CUI: C4023177
Disease: Increased cerebral lipofuscin
Increased cerebral lipofuscin 		1 0 1 0.50 0 0
CUI: C0751273
Disease: Infantile Globoid Cell Leukodystrophy
Infantile Globoid Cell Leukodystrophy 		2 0 1 0.33 0 0
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		2 0 1 0.33 0 0
CUI: C0751278
Disease: Metachromatic Leukodystrophy, Infant
Metachromatic Leukodystrophy, Infant 		2 0 1 0.33 0 0
CUI: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 		2 1 1 0.33 1 0.33
CUI: C3806306
Disease: Periarticular subcutaneous nodules
Periarticular subcutaneous nodules 		2 0 1 0.33 0 0
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		7 0 2 0.29 0 0
CUI: C0011103
Disease: Decerebrate State
Decerebrate State 		3 0 1 0.25 0 0
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
Metachromatic Leukodystrophy, Adult-Type (disorder) 		3 0 1 0.25 0 0
CUI: C3149494
Disease: KELOID FORMATION
KELOID FORMATION 		3 0 1 0.25 0 0
CUI: C4024961
Disease: Metachromatic leukodystrophy variant
Metachromatic leukodystrophy variant 		3 0 1 0.25 0 0
CUI: C4025350
Disease: Abnormality of glycosphingolipid metabolism
Abnormality of glycosphingolipid metabolism 		3 0 1 0.25 0 0
CUI: C4022658
Disease: Punctate periventricular T2 hyperintense foci
Punctate periventricular T2 hyperintense foci 		4 0 1 0.20 0 0
CUI: C0917808
Disease: Vegetative State
Vegetative State 		5 0 1 0.17 0 0
CUI: C1859178
Disease: Progressive peripheral neuropathy
Progressive peripheral neuropathy 		5 0 1 0.17 0 0
CUI: C4024613
Disease: Progressive distal muscular atrophy
Progressive distal muscular atrophy 		5 0 1 0.17 0 0
CUI: C0349672
Disease: Endometrioid carcinoma of prostate
Endometrioid carcinoma of prostate 		7 0 1 0.12 0 0
CUI: C1855895
Disease: Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs 		7 0 1 0.12 0 0
CUI: C2678303
Disease: Hoarse cry
Hoarse cry 		7 0 1 0.12 0 0
CUI: C3267007
Disease: Hypercalcitoninaemia
Hypercalcitoninaemia 		7 0 1 0.12 0 0
CUI: C2932715
Disease: Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1B 		8 0 1 0.11 0 0
CUI: C0006846
Disease: Cutaneous Candidiasis
Cutaneous Candidiasis 		9 0 1 1.0E-01 0 0