DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Familial Hemiplegic Migraine ×

Variant: rs149144720 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs149144720

ATP1A2

CUI:	C0338484
Disease:	Familial Hemiplegic Migraine

Familial Hemiplegic Migraine

0.700

GeneticVariation

CLINVAR

Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes.

24921013

2014

dbSNP:

rs149144720

ATP1A2

CUI:	C0338484
Disease:	Familial Hemiplegic Migraine

Familial Hemiplegic Migraine

0.700

GeneticVariation

CLINVAR

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

20837964

2010

dbSNP:

rs149144720

ATP1A2

CUI:	C0338484
Disease:	Familial Hemiplegic Migraine

Familial Hemiplegic Migraine

0.700

GeneticVariation

CLINVAR

Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.

19874388

2009