Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10491
Gene Symbol: CRTAP
CRTAP
0.010 GeneticVariation disease BEFREE We report on a child with Cole-Carpenter syndrome phenotype who has a homozygous c.118G>T mutation in exon 1 of the CRTAP gene. 25604815 2015