Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 GeneticVariation disease BEFREE Recently, several mutations in the mitochondrial protease CLPP have been identified in patients with Perrault syndrome 3 (PRLTS3). 30150665 2018
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 Biomarker disease CLINGEN Expanding the genotypic spectrum of Perrault syndrome. 26970254 2017
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 Biomarker disease CLINGEN Genetic diagnosis of Mendelian disorders via RNA sequencing. 28604674 2017
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 Biomarker disease CLINGEN Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. 27899912 2016
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 Biomarker disease CLINGEN A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. 27087618 2016
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 Biomarker disease CLINGEN An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. 27650058 2016
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 GeneticVariation disease UNIPROT 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
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 Biomarker disease CLINGEN 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
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 CausalMutation disease CLINVAR Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. 23541340 2013
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 Biomarker disease CLINGEN Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors. 23851121 2013
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 Biomarker disease CLINGEN Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. 23541340 2013
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 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
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 GeneticVariation disease UNIPROT Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. 23541340 2013
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 Biomarker disease GENOMICS_ENGLAND Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene. 8543061 1995
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.910 Biomarker disease CTD_human
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		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
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		0.740 GeneticVariation disease BEFREE This study expands the mutation spectrum of CLPP pathogenicity in PRLTS type 3 phenotype. 27087618 2016
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		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
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		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
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		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
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		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
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		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
CUI: C3554105
Disease: PERRAULT SYNDROME 2
PERRAULT SYNDROME 2 		0.200 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
CUI: C3809105
Disease: PERRAULT SYNDROME 4
PERRAULT SYNDROME 4 		0.200 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
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.200 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