COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Namaqualand hip dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 Biomarker disease GENOMICS_ENGLAND Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596 2012
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 GeneticVariation disease 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
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 GeneticVariation disease UNIPROT Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519. 8507190 1993
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 GeneticVariation disease UNIPROT Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia. 1985108 1991
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 GeneticVariation disease UNIPROT Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. 1975693 1990
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 GermlineCausalMutation disease ORPHANET Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. 1975693 1990
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 CausalMutation disease CLINVAR
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 Biomarker disease CTD_human