COL9A2, collagen type IX alpha 2 chain, 1298

N. diseases: 116; N. variants: 10
Disease: Stickler syndrome, type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.320 GeneticVariation disease BEFREE Rare recessive forms of Stickler syndrome exist that are due to mutations in genes encoding type IX collagen (COL9A1 type 4 Stickler syndrome and COL9A2 type 5 Stickler syndrome). 23922384 2013
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.320 Biomarker disease GENOMICS_ENGLAND A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.320 GeneticVariation disease BEFREE A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011