COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Namaqualand hip dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912865
rs121912865
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0432214
Disease:
Namaqualand hip dysplasia 		0.800 GeneticVariation UNIPROT Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis. 7757086 1995
dbSNP: rs121912865
rs121912865
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0432214
Disease:
Namaqualand hip dysplasia 		0.800 GeneticVariation UNIPROT Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519. 8507190 1993
dbSNP: rs121912865
rs121912865
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0432214
Disease:
Namaqualand hip dysplasia 		0.800 GeneticVariation UNIPROT Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia. 1985108 1991
dbSNP: rs121912865
rs121912865
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0432214
Disease:
Namaqualand hip dysplasia 		0.800 GeneticVariation UNIPROT Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. 1975693 1990
dbSNP: rs121912865
rs121912865
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0432214
Disease:
Namaqualand hip dysplasia 		A 0.800 CausalMutation CLINVAR