MARCKSL1, MARCKS like 1, 65108

N. diseases: 169; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752427294
rs752427294
Entrez Id: 65108
Gene Symbol: MARCKSL1
MARCKSL1
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE To gain insight into the disease mechanisms involved, we generated a knock-in mouse (KI) model, carrying the well documented HCM-causing CSRP3 mutation C58G. 30048712 2018
dbSNP: rs752427294
rs752427294
Entrez Id: 65108
Gene Symbol: MARCKSL1
MARCKSL1
CUI: C0878544
Disease:
Cardiomyopathies
0.010 GeneticVariation BEFREE Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. 30048712 2018