DisGeNET - a database of gene-disease associations

rs121913139, INSR

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.

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

CUI:	C0342278
Disease:	Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

18

1.000

0.120

19

7122662

missense variant

C/T

snv

0.800

1.000

1988

2017

Insulin Resistance

CUI:	C0021655
Disease:	Insulin Resistance

53

1.000

0.120

19

7122662

missense variant

C/T

snv

0.700