DisGeNET - a database of gene-disease associations

KBTBD13, kelch repeat and BTB domain containing 13, 390594

N. diseases: 55; N. variants: 5

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs200549195

Entrez Id:	51285;390594
Gene Symbol:	RASL12;KBTBD13

RASL12;KBTBD13

CUI:	C1836472
Disease:

Nemaline myopathy 6

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: nemaline myopathy.

22510848

2012

dbSNP:

rs387907090

Entrez Id:	51285;390594
Gene Symbol:	RASL12;KBTBD13

RASL12;KBTBD13

CUI:	C1836472
Disease:

Nemaline myopathy 6

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: nemaline myopathy.

22510848

2012

dbSNP:

rs387907090

Entrez Id:	51285;390594
Gene Symbol:	RASL12;KBTBD13

RASL12;KBTBD13

CUI:	C1836472
Disease:

Nemaline myopathy 6

0.800

GeneticVariation

UNIPROT

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

21109227

2010

dbSNP:

rs200549195

Entrez Id:	51285;390594
Gene Symbol:	RASL12;KBTBD13

RASL12;KBTBD13

CUI:	C1836472
Disease:

Nemaline myopathy 6

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907090

Entrez Id:	51285;390594
Gene Symbol:	RASL12;KBTBD13

RASL12;KBTBD13

CUI:	C1836472
Disease:

Nemaline myopathy 6

0.800

CausalMutation

CLINVAR

dbSNP:

rs1303411209

Entrez Id:	51285;390594
Gene Symbol:	RASL12;KBTBD13

RASL12;KBTBD13

CUI:	C1836472
Disease:

Nemaline myopathy 6

0.700

CausalMutation

CLINVAR

dbSNP:

rs760601340

Entrez Id:	51285;390594
Gene Symbol:	RASL12;KBTBD13

RASL12;KBTBD13

CUI:	C1836472
Disease:

Nemaline myopathy 6

0.700

GeneticVariation

CLINVAR

dbSNP:

rs767384093

Entrez Id:	51285;390594
Gene Symbol:	RASL12;KBTBD13

RASL12;KBTBD13

CUI:	C1836472
Disease:

Nemaline myopathy 6

0.700

GeneticVariation

CLINVAR

dbSNP:

rs387907090

Entrez Id:	51285;390594
Gene Symbol:	RASL12;KBTBD13

RASL12;KBTBD13

CUI:	C0206157
Disease:

Myopathies, Nemaline

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.

31828823

2020