MTMR14, myotubularin related protein 14, 64419

N. diseases: 61; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434509
rs121434509
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1 		0.700 GeneticVariation UNIPROT A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. 17008356 2006
dbSNP: rs121434510
rs121434510
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1 		0.700 GeneticVariation UNIPROT A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. 17008356 2006
dbSNP: rs121434509
rs121434509
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14
CUI: C4017237
Disease:
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs121434510
rs121434510
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14
CUI: C4017237
Disease:
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF 		G 0.700 SusceptibilityMutation CLINVAR