DisGeNET - a database of gene-disease associations

rs63750138, MSH6;FBXO11

N. diseases: 3

Source: INFERRED ×

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Hereditary Nonpolyposis Colorectal Cancer

CUI:	C1333990
Disease:	Hereditary Nonpolyposis Colorectal Cancer

0.851

0.160

2

47800297

missense variant

C/A;G;T

snv

2.0E-05; 8.0E-06

0.720

1.000

2001

2019

Neoplastic Syndromes, Hereditary

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

0.851

0.160

2

47800297

missense variant

C/A;G;T

snv

2.0E-05; 8.0E-06

0.700

1.000

1994

2015

Hereditary Nonpolyposis Colorectal Neoplasms

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

0.851

0.160

2

47800297

missense variant

C/A;G;T

snv

2.0E-05; 8.0E-06

0.700

1.000

2013

2017