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: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		disease 1.000 definitive 0.990 101 55 1981 2019
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		disease 0.500 None 0.967 30 3 1985 2018
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		disease 0.300 None 1.000 2 0 2003 2014
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		disease 0.300 None 1.000 2 0 2003 2014
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.300 strong 1.000 1 0 2005 2005
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease 0.240 None 1.000 4 0 2000 2017
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0085605
Disease: Liver Failure
Liver Failure 		disease 0.220 None 1.000 3 0 2000 2018
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.200 None 1.000 1 0 2005 2005
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 0.160 None 1.000 6 0 2000 2019
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease 0.140 None 1.000 4 0 2000 2017
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		phenotype 0.110 None 1.000 1 0 2011 2011
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		disease 0.110 None 1.000 1 0 1997 1997
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.100 None 1.000 10 0 1995 1999
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype 0.100 None 1.000 2 1 2018 2018
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: 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: 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: 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: 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: 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: 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: C0542518
Disease: Enlarged kidney
Enlarged kidney 		phenotype 0.100 None 0 0