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: C0265729
Disease: Mesatipellic pelvis
Mesatipellic pelvis
1 0 1 0.25 0 0
CUI: C1833541
Disease: Caroli disease isolated
Caroli disease isolated
1 0 1 0.25 0 0
Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia
1 0 1 0.25 0 0
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
1 0 1 0.25 0 0
CUI: C3277945
Disease: Atretic gallbladder
Atretic gallbladder
1 0 1 0.25 0 0
Depletion of mitochondrial DNA in liver
1 0 1 0.25 0 0
Viral infection-induced rhabdomyolysis
1 0 1 0.25 0 0
CUI: C4304293
Disease: Dark yellow urine
Dark yellow urine
1 0 1 0.25 0 0
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
1 0 1 0.25 0 0
MITOCHONDRIAL DNA DEPLETION SYNDROME 3
1 0 1 0.25 0 0
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria
2 0 1 0.20 0 0
Nephronophthisis - medullary cystic disease
2 0 1 0.20 0 0
Congenital disorder of glycosylation type 1L
2 0 1 0.20 0 0
CUI: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC
2 0 1 0.20 0 0
CUI: C4544985
Disease: Fibropolycystic disease of liver
Fibropolycystic disease of liver
2 0 1 0.20 0 0
CUI: C0021888
Disease: Physiologic Intraocular Pressure
Physiologic Intraocular Pressure
3 0 1 0.17 0 0
CUI: C0442872
Disease: Multiple cysts
Multiple cysts
3 0 1 0.17 0 0
Absence of renal corticomedullary differentiation
3 0 1 0.17 0 0
CUI: C2673892
Disease: Ductal plate malformation
Ductal plate malformation
3 0 1 0.17 0 0
Elevated gamma-glutamyltransferase activity
3 0 1 0.17 0 0
CUI: C0010398
Disease: Cruveilhier-Baumgarten Syndrome
Cruveilhier-Baumgarten Syndrome
4 0 1 0.14 0 0
CUI: C1328348
Disease: Mitochondrial hepatopathy
Mitochondrial hepatopathy
4 0 1 0.14 0 0
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
4 0 1 0.14 0 0
CUI: C4316799
Disease: Multiple biliary hamartomas
Multiple biliary hamartomas
4 0 1 0.14 0 0
CUI: C0009439
Disease: Choledochal Cyst, Type I
Choledochal Cyst, Type I
5 0 1 0.12 0 0