Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
0.130 GeneticVariation disease BEFREE Recognition of this expanded myopathic phenotype can enable identification of individuals with MYBPC1 variants without arthrogryposis. 31264822 2019
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
0.130 GeneticVariation disease BEFREE Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita. 26661508 2016
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
0.130 Biomarker disease BEFREE Our results expand the phenotypic spectrum of MYBPC1-related arthrogryposis multiplex congenita (AMC). 25679999 2015
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
0.130 Biomarker disease HPO