Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.
|
30209734 |
2019 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
Biomarker
|
disease |
MGD |
Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.
|
30010889 |
2018 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that a novel sequence variation involving an unusual mutational site of the COL10A1 gene can cause mild MCDS.
|
25542771 |
2015 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
Biomarker
|
disease |
MGD |
Targeted induction of endoplasmic reticulum stress induces cartilage pathology.
|
19834559 |
2009 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Collagen X (COL10A1) nonsense mutations in Schmid-type metaphyseal chondrodysplasia are localized in a region toward the 3' end of the last exon (exon 3) and result in mRNA decay, in contrast to most other genes in which terminal-exon nonsense mutations are resistant to NMD.
|
18304492 |
2008 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
Biomarker
|
disease |
CTD_human |
Essential role for the alpha 1 chain of type VIII collagen in zebrafish notochord formation.
|
19035365 |
2008 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
|
17403716 |
2007 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GermlineCausalMutation
|
disease |
ORPHANET |
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
|
17403716 |
2007 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
We performed a study on the genes coding for the RNA components of RNase MRP (MRPR) and RNase P (H1RNA) among 20 patients with diagnosis of MCDS and no mutations in COL10A1.
|
14569119 |
2003 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Schmid-type metaphyseal chondrodysplasia (Schmid MCD) is an autosomal dominant chondrodysplasia resulting from various mutations in the COL10A1 gene.
|
10929364 |
2000 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
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 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.
|
9067753 |
1997 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
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 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
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 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.
|
7607655 |
1995 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
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 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
|
8004099 |
1994 |
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Disproportionate short stature
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
Osteoarthritis of hip
|
0.210 |
Biomarker
|
disease |
RGD |
Early cartilage degeneration in a rat experimental model of developmental dysplasia of the hip.
|
22670655 |
2012 |
Osteoarthritis of hip
|
0.210 |
GeneticVariation
|
disease |
BEFREE |
Variants in the COL9A2 (rs7533552, p = 0.0025) and COL10A1 (rs568725, p = 0.002) genes showed association with hip OA.
|
21159828 |
2011 |
Cervical Disc Degenerative Disorder
|
0.200 |
Biomarker
|
disease |
RGD |
Prolonged upright posture induces degenerative changes in intervertebral discs of rat cervical spine.
|
20948465 |
2011 |