DisGeNET - a database of gene-disease associations

Hirschsprung Disease, C0019569

Variant: rs77503355 ×

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:

rs77503355

RET

0.730

GeneticVariation

BEFREE

In three families second germline mutations were detected: Cys620Phe (exon 10) in MEN2A family, Met918Thr (exon 16) in MEN2B family, and Ser649Leu (exon 11) in HSCR patient.

19826964

2009

dbSNP:

rs77503355

RET

0.730

GeneticVariation

BEFREE

This family added a novel RET missense mutation (C620S) predisposing to the association of MEN 2A and Hirschsprung's disease.

10549772

1999

dbSNP:

rs77503355

RET

0.730

GeneticVariation

BEFREE

In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene.

9745455

1998

dbSNP:

rs77503355

RET

0.730

CausalMutation

CLINVAR