DisGeNET - a database of gene-disease associations

Myopathies, Nemaline, C0206157

Variant: rs387907090 ×

Source: ALL

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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:

rs387907090

rs387907090

RASL12 ; KBTBD13

0.010

GeneticVariation

BEFREE

Here, we report the case of a mother and daughter in China with NEM caused by a mutation (c.1222C>T) in KBTBD13.

2020