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:

rs121912426

rs121912426

IGF1R

1.000

0.080

15

98707880

missense variant

G/A;T

snv

4.0E-06

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

1.000

2003

2015

dbSNP:

rs121912427

rs121912427

IGF1R

1.000

0.080

15

98707902

missense variant

A/C;G

snv

1.2E-05

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

1.000

2003

2015

dbSNP:

rs121912429

rs121912429

IGF1R

1.000

0.080

15

98922162

missense variant

G/A

snv

1.2E-05

2.1E-05

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

1.000

2003

2015

dbSNP:

rs141802822

rs141802822

IGF1R

1.000

0.080

15

98957347

missense variant

C/T

snv

3.3E-04

6.8E-04

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

1.000

2003

2015