Disease: PERRAULT SYNDROME 3 ×
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