CRTAP, cartilage associated protein, 10491

N. diseases: 66; N. variants: 15
Disease: Cole Carpenter syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225043
rs863225043
Entrez Id: 10491
Gene Symbol: CRTAP
CRTAP
CUI: C1862178
Disease:
Cole Carpenter syndrome 		0.010 GeneticVariation 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