rs150840924, LMNA

N. diseases: 7
Disease: Hereditary Motor and Sensory-Neuropathy Type II ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Systematic identification of pathological lamin A interactors. 24623722 2014
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C. 23804595 2013
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Autosomal recessive LMNA mutation causing restrictive dermopathy. 20662858 2010
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. 19842191 2009
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700 2003