DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Movement Disorders ×

Gene: TH ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7054
Gene Symbol:	TH

CUI:	C0026650
Disease:	Movement Disorders

Movement Disorders

0.110

CausalMutation

CLINVAR

What is new for monoamine neurotransmitter disorders?

24696406

2014

Entrez Id:	7054
Gene Symbol:	TH

CUI:	C0026650
Disease:	Movement Disorders

Movement Disorders

0.110

CausalMutation

CLINVAR

Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.

20823027

2011

Entrez Id:	7054
Gene Symbol:	TH

CUI:	C0026650
Disease:	Movement Disorders

Movement Disorders

0.110

CausalMutation

CLINVAR

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

20430833

2010