COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Osteochondrodysplasias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 GeneticVariation group BEFREE Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report. 28738883 2017
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 GeneticVariation group BEFREE Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. 26626311 2016
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 GeneticVariation group BEFREE Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling. 25823796 2015
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 GeneticVariation group LHGDN A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita. 17509551 2007
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 Biomarker group CTD_human A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. 8486375 1993
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 Biomarker group HPO