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: C2827432
Disease: Bile Acid Synthesis Defect
Bile Acid Synthesis Defect 		1 0 1 0.50 0 0
CUI: C4022034
Disease: Abnormality of vitamin E metabolism
Abnormality of vitamin E metabolism 		1 0 1 0.50 0 0
CUI: C4024686
Disease: Abnormality of vitamin A metabolism
Abnormality of vitamin A metabolism 		1 0 1 0.50 0 0
CUI: C4304715
Disease: Congenital bile acid synthesis defect type 3
Congenital bile acid synthesis defect type 3 		1 0 1 0.50 0 0
CUI: C4751204
Disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 		1 0 1 0.50 0 0
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) 		2 16 1 0.33 1 6.2E-02
CUI: C4025020
Disease: Acute hepatic steatosis
Acute hepatic steatosis 		2 0 1 0.33 0 0
CUI: C1859162
Disease: Neonatal cholestatic liver disease
Neonatal cholestatic liver disease 		3 0 1 0.25 0 0
CUI: C0232720
Disease: Pale feces (finding)
Pale feces (finding) 		5 0 1 0.17 0 0
CUI: C0742395
Disease: Cholestasis, chronic
Cholestasis, chronic 		5 0 1 0.17 0 0
CUI: C0751605
Disease: X-Linked, Spastic Paraplegia, Hereditary
X-Linked, Spastic Paraplegia, Hereditary 		5 0 1 0.17 0 0
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		5 0 1 0.17 0 0
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		5 0 1 0.17 0 0
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		5 0 1 0.17 0 0
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		6 0 1 0.14 0 0
CUI: C2675627
Disease: Acholic stool
Acholic stool 		6 0 1 0.14 0 0
CUI: C1849618
Disease: Accelerated atherosclerosis
Accelerated atherosclerosis 		7 0 1 0.12 0 0
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception 		7 0 1 0.12 0 0
CUI: C4721916
Disease: HMSN Type V
HMSN Type V 		7 0 1 0.12 0 0
CUI: C0023772
Disease: Lipid Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors 		8 0 1 0.11 0 0
CUI: C0393555
Disease: Pure hereditary spastic paraplegia
Pure hereditary spastic paraplegia 		9 0 1 1.0E-01 0 0
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		9 0 1 1.0E-01 0 0
CUI: C1837256
Disease: Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis 		9 0 1 1.0E-01 0 0
CUI: C4021523
Disease: Upper limb amyotrophy
Upper limb amyotrophy 		9 0 1 1.0E-01 0 0
CUI: C0751604
Disease: Hereditary X-Linked Recessive Spastic Paraplegia
Hereditary X-Linked Recessive Spastic Paraplegia 		10 0 1 9.1E-02 0 0