| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. | 15880705 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia. | 9852679 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. | 9067753 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. | 8782043 | 1996 |
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|
0.800 | GeneticVariation | UNIPROT | Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. | 7876225 | 1995 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. | 7607655 | 1995 |
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|
0.800 | GeneticVariation | UNIPROT | Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. | 8304336 | 1994 |
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|
0.800 | GeneticVariation | UNIPROT | Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. | 8004099 | 1994 |
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|
G | 0.800 | GeneticVariation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR |