DisGeNET - a database of gene-disease associations

Distal Myopathy 1, C4552004

Variant: rs797044602 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs797044602

rs797044602

MYH7 ; MHRT

0.710

GeneticVariation

BEFREE

Here, we measure the biological effects of the R1500P and L1706P MPD1 mutations in different cellular systems.

2012

dbSNP:

rs797044602

rs797044602

MYH7 ; MHRT

G

0.710

CausalMutation

CLINVAR