Condition: Congenital heart disease


rs1060499547 in ABL1 gene and Congenital heart disease PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs12458 in C8orf49;GATA4 gene and Congenital heart disease PMID 27426723 2017 Congenital heart diseases and their association with the variant distribution features on susceptibility genes.

rs10503425 in GATA4 gene and Congenital heart disease PMID 27426723 2017 Congenital heart diseases and their association with the variant distribution features on susceptibility genes.

rs804290 in GATA4;C8orf49 gene and Congenital heart disease PMID 27426723 2017 Congenital heart diseases and their association with the variant distribution features on susceptibility genes.

rs76216585 in POC1B gene and Congenital heart disease PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

rs16835979 in STX18-AS1 gene and Congenital heart disease PMID 23708191 2013 Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.