DisGeNET - a database of gene-disease associations

Tyrosinemia, Type I, C0268490

Gene: FAH ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80338898

FAH

0.800

CausalMutation

CLINVAR

Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.

11754109

2002

dbSNP:

rs80338898

FAH

0.800

GeneticVariation

CLINVAR

Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.

11754109

2002

dbSNP:

rs121965073

FAH

0.800

GeneticVariation

UNIPROT

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

11476670

2001

dbSNP:

rs121965073

FAH

0.800

GeneticVariation

UNIPROT

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

11278491

2001

dbSNP:

rs121965074

FAH

0.800

GeneticVariation

UNIPROT

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

11278491

2001

dbSNP:

rs121965074

FAH

0.800

GeneticVariation

UNIPROT

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

11476670

2001

dbSNP:

rs121965074

FAH

0.800

GeneticVariation

CLINVAR

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

11278491

2001

dbSNP:

rs121965077

FAH

0.800

GeneticVariation

UNIPROT

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

11278491

2001

dbSNP:

rs121965077

FAH

0.800

GeneticVariation

UNIPROT

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

11476670

2001

dbSNP:

rs121965078

FAH

0.800

GeneticVariation

UNIPROT

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

11476670

2001

dbSNP:

rs121965078

FAH

0.800

GeneticVariation

UNIPROT

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

11278491

2001

dbSNP:

rs778387055

FAH

0.800

GeneticVariation

UNIPROT

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

11476670

2001

dbSNP:

rs778387055

FAH

0.800

GeneticVariation

UNIPROT

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

11278491

2001

dbSNP:

rs779040832

FAH

0.800

GeneticVariation

UNIPROT

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

11278491

2001

dbSNP:

rs779040832

FAH

0.800

GeneticVariation

UNIPROT

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

11476670

2001

dbSNP:

rs80338894

FAH

0.800

GeneticVariation

UNIPROT

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

11278491

2001

dbSNP:

rs80338894

FAH

0.800

GeneticVariation

UNIPROT

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

11476670

2001

dbSNP:

rs80338897

FAH

0.800

GeneticVariation

UNIPROT

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

11278491

2001

dbSNP:

rs80338897

FAH

0.800

GeneticVariation

UNIPROT

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

11476670

2001

dbSNP:

rs80338898

FAH

0.800

GeneticVariation

UNIPROT

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

11476670

2001

dbSNP:

rs80338898

FAH

0.800

GeneticVariation

UNIPROT

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

11278491

2001

dbSNP:

rs80338900

FAH

0.800

GeneticVariation

UNIPROT

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

11476670

2001

dbSNP:

rs80338900

FAH

0.800

GeneticVariation

UNIPROT

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

11278491

2001

dbSNP:

rs121965073

FAH

0.800

GeneticVariation

UNIPROT

Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.

11196105

2000

dbSNP:

rs121965074

FAH

0.800

GeneticVariation

UNIPROT

Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.

11196105

2000