DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Tyrosinemia, Type I ×

Variant: rs1297118863 ×

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:

rs1297118863

rs1297118863

FAH

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

A

0.700

GeneticVariation

CLINVAR

[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].

2010