LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Charcot-Marie-Tooth Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142000963
rs142000963
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		T 0.700 GeneticVariation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039 2014
dbSNP: rs142000963
rs142000963
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		T 0.700 GeneticVariation CLINVAR Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 18478590 2008