COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Stickler syndrome, type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912882
rs121912882
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2020284
Disease:
Stickler syndrome, type 1 		0.710 GeneticVariation BEFREE A p.R904C variant of the COL2A1 gene was found in a patient, who was accordingly diagnosed with Stickler syndrome. 30541462 2018
dbSNP: rs121912882
rs121912882
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2020284
Disease:
Stickler syndrome, type 1 		0.710 GeneticVariation UNIPROT Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134 2010
dbSNP: rs121912882
rs121912882
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2020284
Disease:
Stickler syndrome, type 1 		0.710 GeneticVariation UNIPROT Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. 11007540 2000
dbSNP: rs121912882
rs121912882
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2020284
Disease:
Stickler syndrome, type 1 		0.710 GeneticVariation UNIPROT Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia. 7977371 1994