DisGeNET - a database of gene-disease associations

Source: UNIPROT

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs758268804

rs758268804

RIPK1

1.000

0.080

6

3077855

missense variant

G/A

snv

3.2E-05

1.0E-04

CUI:	C1319315
Disease:	Adenocarcinoma of large intestine

Adenocarcinoma of large intestine

0.700

dbSNP:

rs759012409

rs759012409

RIPK1

1.000

0.080

6

3083284

missense variant

C/T

snv

4.1E-06

7.0E-06

CUI:	C1319315
Disease:	Adenocarcinoma of large intestine

Adenocarcinoma of large intestine

0.700

dbSNP:

rs774996232

rs774996232

RIPK1

1.000

0.080

6

3077805

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C1319315
Disease:	Adenocarcinoma of large intestine

Adenocarcinoma of large intestine

0.700