COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Hypochondrogenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.660 Biomarker disease MGD Role of collagen type II and perlecan in skeletal development. 12814946 2003
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.660 Biomarker disease MGD The role of collagen II and cartilage fibril-associated molecules in skeletal development. 11680679 2001
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.660 GeneticVariation disease BEFREE Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1). 10745044 2000
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.660 GermlineCausalMutation disease ORPHANET They also demonstrate that most, if not all, patients with achondrogenesis type II/hypochondrogenesis have mutations in the COL2A1 gene. 10797431 2000
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.660 GeneticVariation disease BEFREE A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis. 8723098 1996
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.660 GeneticVariation disease BEFREE Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes. 8175802 1994
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.660 GeneticVariation disease BEFREE An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. 1429602 1992
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.660 GeneticVariation disease BEFREE Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis. 1374906 1992
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.660 GeneticVariation disease BEFREE This interpretation implies that dominant mutations of the COL2A1 gene may cause type II achondrogenesis-hypochondrogenesis. 3195588 1988
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.660 CausalMutation disease CLINVAR