Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
0.420 Biomarker disease HPO
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
0.420 Biomarker disease GENOMICS_ENGLAND Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. 22147889 2012
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
0.420 GeneticVariation disease BEFREE A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction. 30107244 2019
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
0.420 GeneticVariation disease BEFREE This is the second report providing evidence of association of polydactyly with MSSD caused by frameshift variant in the gene BHLHA9. 31152918 2019