DisGeNET - a database of gene-disease associations

Hyperphenylalaninemia, BH4-Deficient, B, C0268467

Variant: rs104894443 ×

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:

rs104894443

GCH1

0.800

GeneticVariation

UNIPROT

Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.

9667588

1998

dbSNP:

rs104894443

GCH1

0.800

GeneticVariation

UNIPROT

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

7501255

1995

dbSNP:

rs104894443

GCH1

0.800

CausalMutation

CLINVAR