Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | GeneticVariation | disease | BEFREE | 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 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains. | 20872587 | 2010 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | The cloning of bovine and then human collagen type X genes facilitated studies in relevant human diseases and contributed to the discovery of mutations in the COL10A1 gene in families with metaphyseal chondrodysplasia type Schmid. | 17696900 | 2007 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | 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 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients. | 16088909 | 2005 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Cartilage-hair hypoplasia diagnosis should be considered in patients with metaphyseal chondrodysplasia even in the absence of any extra-skeletal manifestations if no mutation in COL10A1 can be found and the family history is compatible with autosomal recessive inheritance. | 14569119 | 2003 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Metaphyseal chondrodysplasia type Schmid (MCDS) is caused by mutations in COL10A1 that are clustered in the carboxyl-terminal non-collagenous (NC1) encoding domain. | 9920912 | 1999 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | We did not, however, detect mutations in the coding and non-coding regions of COL10A1 in one subject with MCDS, the subject with atypical MCDS, and in the nine subjects with other forms of metaphyseal chondrodysplasia. | 8782043 | 1996 | ||||
|
0.180 | Biomarker | disease | HPO |