DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Tyrosinemia, Type I ×

Variant: rs778387055 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs778387055

FAH

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.800

GeneticVariation

CLINVAR

Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

23430822

2011

dbSNP:

rs778387055

FAH

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.800

GeneticVariation

CLINVAR

Crystal structure and mechanism of a carbon-carbon bond hydrolase.

10508789

1999

dbSNP:

rs778387055

FAH

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.800

GeneticVariation

CLINVAR

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

9633815

1998

dbSNP:

rs778387055

FAH

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.800

GeneticVariation

CLINVAR

Fumarylacetoacetase mutations in tyrosinaemia type I.

8829657

1996

dbSNP:

rs778387055

FAH

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.800

GeneticVariation

CLINVAR

Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

8318997

1993