CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
|
30681346 |
2019 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy.
|
27353086 |
2016 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
|
25351510 |
2015 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
|
25351510 |
2015 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Human muscle LIM protein dimerizes along the actin cytoskeleton and cross-links actin filaments.
|
24934443 |
2014 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
|
22429680 |
2012 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
CLINGEN |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
|
22429680 |
2012 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting.
|
21425739 |
2011 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
CLINGEN |
A common MLP (muscle LIM protein) variant is associated with cardiomyopathy.
|
20044516 |
2010 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
MGD |
A common MLP (muscle LIM protein) variant is associated with cardiomyopathy.
|
20044516 |
2010 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.
|
19035361 |
2009 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
|
18505755 |
2008 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
|
18505755 |
2008 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
|
18505755 |
2008 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.
|
16352453 |
2006 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.
|
16352453 |
2006 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
|
15582318 |
2004 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy.
|
15205937 |
2004 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.
|
12642359 |
2003 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.
|
12642359 |
2003 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|