DisGeNET - a database of gene-disease associations

Cavernous Hemangioma of Brain, C2919945

Variant: rs1554527922 ×

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:

rs1554527922

KRIT1

0.700

CausalMutation

CLINVAR

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

24689081

2014

dbSNP:

rs1554527922

KRIT1

0.700

CausalMutation

CLINVAR

Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation.

23584803

2013

dbSNP:

rs1554527922

KRIT1

0.700

CausalMutation

CLINVAR

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.

12404106

2002

dbSNP:

rs1554527922

KRIT1

0.700

CausalMutation

CLINVAR

CCM1 gene mutations in families segregating cerebral cavernous malformations.

11222804

2001

dbSNP:

rs1554527922

KRIT1

0.700

CausalMutation

CLINVAR

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.

10508515

1999