Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1848702
Disease: Elevated urinary delta-aminolevulinic acid
Elevated urinary delta-aminolevulinic acid 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0235971
Disease: Elevated alpha-fetoprotein
Elevated alpha-fetoprotein 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder) 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0030446
Disease: Paralytic Ileus
Paralytic Ileus 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0597167
Disease: Islets of Langerhans hyperplasia
Islets of Langerhans hyperplasia 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1848695
Disease: Episodic peripheral neuropathy
Episodic peripheral neuropathy 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1833323
Disease: Rickets of the lower limbs
Rickets of the lower limbs 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		phenotype 0.100 None 0 0