DisGeNET - a database of gene-disease associations

Hirschsprung Disease, C0019569

Variant: rs377767391 ×

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:

rs377767391

rs377767391

RET

0.710

GeneticVariation

BEFREE

Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.

2003

dbSNP:

rs377767391

rs377767391

RET

C

0.710

GeneticVariation

CLINVAR