Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 GeneticVariation UNIPROT A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. 17994563

2007
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 GeneticVariation UNIPROT Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1). 15054848

2004
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 GeneticVariation UNIPROT 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
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 GeneticVariation UNIPROT They also demonstrate that most, if not all, patients with achondrogenesis type II/hypochondrogenesis have mutations in the COL2A1 gene. 10797431

2000
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 GeneticVariation UNIPROT A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. 7829510

1995
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 GeneticVariation UNIPROT A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. 7757081

1995
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 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
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 GeneticVariation UNIPROT Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism. 2572591

1989