DisGeNET - a database of gene-disease associations

Abnormality of T cell physiology, C4023166

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

Variant

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1555908409

rs1555908409

RAC2

7

0.851

0.160

22

37232842

missense variant

C/T

snv

0.700

dbSNP:

rs3218716

rs3218716

MYH7

17

0.716

0.280

14

23425316

missense variant

C/A;G;T

snv

4.0E-06; 2.4E-05

0.700

dbSNP:

rs74315329

rs74315329

MYOC ; MYOCOS

15

0.732

0.240

1

171636338

stop gained

G/A

snv

1.1E-03

8.7E-04

0.700