COMP, cartilage oligomeric matrix protein, 1311

N. diseases: 230; N. variants: 31
Disease: PSEUDOACHONDROPLASIA, SEVERE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310948
Disease: PSEUDOACHONDROPLASIA, SEVERE
PSEUDOACHONDROPLASIA, SEVERE 		0.110 GeneticVariation disease BEFREE Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. 11746044 2001
CUI: C4310948
Disease: PSEUDOACHONDROPLASIA, SEVERE
PSEUDOACHONDROPLASIA, SEVERE 		0.110 CausalMutation disease CLINVAR