Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.740 | GeneticVariation | disease | BEFREE | The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome/DFNB4 (PDS, OMIM 274600), (ii) Perrault syndrome (deafness and infertility) due to mutations of CLPP (PRTLS3, OMIM 614129), and (iii) the unexplained extensive clinical variability associated with TBC1D24 mutations. | 27259978 | 2017 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | This study expands the mutation spectrum of CLPP pathogenicity in PRLTS type 3 phenotype. | 27087618 | 2016 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3. | 25956234 | 2015 | ||||
|
0.740 | Biomarker | disease | MGD | Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors. | 23851121 | 2013 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | Together with the previous identification of mutations in HARS2, encoding mitochondrial histidyl-tRNA synthetase, mutations in CLPP expose dysfunction of mitochondrial protein homeostasis as a cause of Perrault syndrome. | 23541340 | 2013 | ||||
|
0.740 | Biomarker | disease | GENOMICS_ENGLAND | Together with the previous identification of mutations in HARS2, encoding mitochondrial histidyl-tRNA synthetase, mutations in CLPP expose dysfunction of mitochondrial protein homeostasis as a cause of Perrault syndrome. | 23541340 | 2013 | ||||
|
0.740 | GermlineCausalMutation | disease | ORPHANET | Together with the previous identification of mutations in HARS2, encoding mitochondrial histidyl-tRNA synthetase, mutations in CLPP expose dysfunction of mitochondrial protein homeostasis as a cause of Perrault syndrome. | 23541340 | 2013 |