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: C0232720
Disease: Pale feces (finding)
Pale feces (finding)
5 0 5 0.83 0 0
CUI: C1859162
Disease: Neonatal cholestatic liver disease
Neonatal cholestatic liver disease
3 0 2 0.29 0 0
CUI: C1832443
Disease: Martinez-Frias Syndrome
Martinez-Frias Syndrome
1 0 1 0.17 0 0
Bile acid synthesis defect, congenital, 1
1 0 1 0.17 0 0
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
1 0 1 0.17 0 0
CUI: C2827432
Disease: Bile Acid Synthesis Defect
Bile Acid Synthesis Defect
1 0 1 0.17 0 0
CUI: C3277945
Disease: Atretic gallbladder
Atretic gallbladder
1 0 1 0.17 0 0
CUI: C4304293
Disease: Dark yellow urine
Dark yellow urine
1 0 1 0.17 0 0
Congenital bile acid synthesis defect type 3
1 0 1 0.17 0 0
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D
2 0 1 0.14 0 0
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
2 0 1 0.14 0 0
Cholestasis, progressive familial intrahepatic 4
2 0 1 0.14 0 0
Bile Acid Synthesis Defect, Congenital, 3
2 0 1 0.14 0 0
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
Cholesterol Ester Storage Disease
3 5 1 0.12 1 0.20
Congenital anomaly of gastrointestinal tract
3 0 1 0.12 0 0
CUI: C0042782
Disease: Visceromegaly
Visceromegaly
3 1 1 0.12 1 1.00
CUI: C0266175
Disease: Jejunal Atresia
Jejunal Atresia
3 0 1 0.12 0 0
CUI: C0271750
Disease: Adrenal calcification
Adrenal calcification
3 0 1 0.12 0 0
Elevated gamma-glutamyltransferase activity
3 0 1 0.12 0 0
CUI: C0266153
Disease: Ectopic gastric tissue
Ectopic gastric tissue
4 0 1 0.11 0 0
CUI: C0549613
Disease: Biliary tract abnormality
Biliary tract abnormality
14 0 2 0.11 0 0
CUI: C1291601
Disease: Deficiency of isomerase
Deficiency of isomerase
4 0 1 0.11 0 0
CUI: C1849766
Disease: Periportal fibrosis
Periportal fibrosis
4 0 1 0.11 0 0
CUI: C0554103
Disease: Intestinal malabsorption of fat
Intestinal malabsorption of fat
5 0 1 1.0E-01 0 0
CUI: C0577063
Disease: Gallbladder absent
Gallbladder absent
5 0 1 1.0E-01 0 0