| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | "A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father." | 17994563 | 2007 |
||||
|
0.800 | GeneticVariation | UNIPROT | Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. | 15054848 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. | 10797431 | 2000 |
||||
|
0.800 | GeneticVariation | UNIPROT | Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. | 10745044 | 2000 |
||||
|
0.800 | 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 |
||||
|
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 |
||||
|
0.800 | 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 |
||||
|
0.800 | 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 |
||||
|
T | 0.800 | CausalMutation | CLINVAR |