COMP, cartilage oligomeric matrix protein, 1311

N. diseases: 230; N. variants: 31
Disease: Pseudoachondroplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142274526
rs142274526
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.010 GeneticVariation BEFREE Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia. 31177591 2019