DisGeNET - a database of gene-disease associations

Dyskinesia, Familial, with Facial Myokymia, C1847627

Variant: rs797045002 ×

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:

rs797045002

ADCY5

0.700

CausalMutation

CLINVAR

A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.

25545163

2015

dbSNP:

rs797045002

ADCY5

0.700

CausalMutation

CLINVAR

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

24700542

2014

dbSNP:

rs797045002

ADCY5

0.700

CausalMutation

CLINVAR

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

22782511

2012