DisGeNET - a database of gene-disease associations

DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder), C2673535

Variant: rs1057517423 ×

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:

rs1057517423

rs1057517423

TH

A

0.700

CausalMutation

CLINVAR

Tyrosine hydroxylase deficiency in Taiwanese infants.

2012

dbSNP:

rs1057517423

rs1057517423

TH

A

0.700

CausalMutation

CLINVAR

Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.

2011