DisGeNET - a database of gene-disease associations

Muscle Weakness Upper Limb, C1698196

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:

rs1565930588

rs1565930588

HSPB8

19

0.882

0.160

12

119193787

frameshift variant

TACTCAACATTTGG/-

del

0.700

1.000

2016

2018

dbSNP:

rs543860009

rs543860009

TTN ; TTN-AS1

33

0.742

0.320

2

178589003

stop gained

G/A;T

snv

0.700

dbSNP:

rs878854378

rs878854378

TTN ; TTN-AS1

33

0.742

0.320

2

178533657

inframe deletion

GTT/-

delins

0.700