LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Malouf syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58922911
rs58922911
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease:
Malouf syndrome 		0.800 GeneticVariation UNIPROT Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 19283854 2009
dbSNP: rs58922911
rs58922911
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease:
Malouf syndrome 		0.800 GeneticVariation UNIPROT Collagen expression in fibroblasts with a novel LMNA mutation. 17150192 2007
dbSNP: rs58922911
rs58922911
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease:
Malouf syndrome 		0.800 GeneticVariation UNIPROT LMNA mutations in atypical Werner's syndrome. 12927431 2003
dbSNP: rs58922911
rs58922911
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease:
Malouf syndrome 		G 0.800 CausalMutation CLINVAR