DisGeNET - a database of gene-disease associations

Hyperphenylalaninemia, BH4-Deficient, B, C0268467

Variant: rs1555360050 ×

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:

rs1555360050

GCH1

0.700

CausalMutation

CLINVAR

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

19491146

2009

dbSNP:

rs1555360050

GCH1

0.700

CausalMutation

CLINVAR

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

19491146

2009

dbSNP:

rs1555360050

GCH1

0.700

CausalMutation

CLINVAR

GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.

8619546

1996

dbSNP:

rs1555360050

GCH1

0.700

CausalMutation

CLINVAR

GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.

8619546

1996