COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Pierre Robin Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.110 GeneticVariation disease BEFREE Two putatively disease-associated sequence variations were found in COL11A1 in Robin sequence patients, one in COL11A2 in a patient with micrognathia and one in COL2A1 in two patients with Robin sequence. 12673280 2003
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.110 Biomarker disease HPO