DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J ×

Variant: rs574552037 ×

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:

rs574552037

BRIP1

CUI:	C1836860
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP J

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

CausalMutation

CLINVAR

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

26315354

2015

dbSNP:

rs574552037

BRIP1

CUI:	C1836860
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP J

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs574552037

BRIP1

CUI:	C1836860
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP J

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

CausalMutation

CLINVAR

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

16116424

2005