DisGeNET - a database of gene-disease associations

rs587779008, MLH1;EPM2AIP1

N. diseases: 3

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

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.

Neoplastic Syndromes, Hereditary

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

6387

1.000

0.160

3

36993584

stop gained

G/A;C;T

snv

4.0E-06

0.700

1.000

2009

2012

Hereditary Nonpolyposis Colorectal Cancer

CUI:	C1333990
Disease:	Hereditary Nonpolyposis Colorectal Cancer

1331

1.000

0.160

3

36993584

stop gained

G/A;C;T

snv

4.0E-06

0.700

Hereditary Nonpolyposis Colorectal Neoplasms

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

875

1.000

0.160

3

36993584

stop gained

G/A;C;T

snv

4.0E-06

0.700