| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | GeneticVariation | disease | BEFREE | Combined, our biophysical and structural studies contribute to the understanding of the molecular basis for how disease-associated mortalin mutations affect mortalin functionality and the pathogenesis of EVEN-PLUS syndrome. | 30933555 | 2019 | ||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. | 26598328 | 2015 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. | 26598328 | 2015 | ||||
|
0.720 | Biomarker | disease | BEFREE | Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. | 26598328 | 2015 | ||||
|
0.720 | GermlineCausalMutation | disease | ORPHANET | Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. | 26598328 | 2015 | ||||
|
0.720 | GermlineCausalMutation | disease | ORPHANET | Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome? | 10424819 | 1999 | ||||
|
0.720 | Biomarker | disease | CTD_human | |||||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.720 | CausalMutation | disease | CLINVAR | |||||||
|
0.010 | Biomarker | disease | BEFREE | The AIFM1 gene has been linked with COXPD6 encephalomyopathy (MIM 300816), Cowchock syndrome (MIM 310490) and X-linked deafness with neuropathy (DFNX5, MIM 300614), none of which are similar to SEMD-MR. Our results place SEMD as the third instance of a skeletal phenotype associated with a mitochondrial disease (the others being EVEN-PLUS syndrome caused by mutations of HSPA9 and CODAS syndrome due to LONP1 mutations). | 27102849 | 2017 |