DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Arteriovenous Malformations, Cerebral ×

Variant: rs121913529 ×

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:

rs121913529

KRAS

CUI:	C0917804
Disease:	Arteriovenous Malformations, Cerebral

Arteriovenous Malformations, Cerebral

0.710

CausalMutation

CLINVAR

Somatic mutations in intracranial arteriovenous malformations.

31891627

2019

dbSNP:

rs121913529

KRAS

CUI:	C0917804
Disease:	Arteriovenous Malformations, Cerebral

Arteriovenous Malformations, Cerebral

0.710

CausalMutation

CLINVAR

Somatic mutations in intracranial arteriovenous malformations.

31891627

2019

dbSNP:

rs121913529

KRAS

CUI:	C0917804
Disease:	Arteriovenous Malformations, Cerebral

Arteriovenous Malformations, Cerebral

0.710

GeneticVariation

BEFREE

We next examined protein expression of KRAS G12D in BAVM lesions in immunohistochemistry.

30902772

2019