DisGeNET - a database of gene-disease associations

Abnormality of coordination, C4023353

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:

rs1085307993

rs1085307993

GABRB2

53

0.716

0.440

5

161331056

missense variant

C/T

snv

0.700

dbSNP:

rs387906653

rs387906653

SLC20A2

7

0.882

0.120

8

42428829

stop gained

C/A;T

snv

0.700

dbSNP:

rs757511770

rs757511770

FMN2

9

0.807

0.280

1

240092656

missense variant

A/C;G;T

snv

8.0E-06; 4.0E-06

0.700