DisGeNET - a database of gene-disease associations

rs137852760, MRE11

N. diseases: 2

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.

Ataxia-Telangiectasisa-Like Disorder 1

CUI:	C4012790
Disease:	Ataxia-Telangiectasisa-Like Disorder 1

15

0.925

0.200

11

94479726

missense variant

T/C

snv

4.0E-06

7.0E-06

0.800

1.000

1999

1999

ATAXIA-TELANGIECTASIA-LIKE DISORDER

CUI:	C1858391
Disease:	ATAXIA-TELANGIECTASIA-LIKE DISORDER

13

0.925

0.200

11

94479726

missense variant

T/C

snv

4.0E-06

7.0E-06

0.700