DisGeNET - a database of gene-disease associations

RASSF1, Ras association domain family member 1, 11186

N. diseases: 400; N. variants: 15

Disease: Hepatoblastoma ×

Variant: rs1389001294 ×

Source: ALL

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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:

rs1389001294

Entrez Id:	11186
Gene Symbol:	RASSF1

RASSF1

CUI:	C0206624
Disease:

Hepatoblastoma

0.010

GeneticVariation

BEFREE

Sequence analysis of ANXA10S identified a missense mutation (E36K, c.106G>A) in a HB cell line.

20461752

2010