HTRA2, HtrA serine peptidase 2, 27429

N. diseases: 151; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker disease GENOMICS_ENGLAND Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations. 23462481 2013
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation disease UNIPROT Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. 18401856 2008
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. 18401856 2008
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation disease UNIPROT Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 15961413 2005
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker disease GENOMICS_ENGLAND Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 15961413 2005
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker disease CTD_human
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 SusceptibilityMutation disease CLINVAR
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 Biomarker disease GENOMICS_ENGLAND Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. 27696117 2017
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 Biomarker disease GENOMICS_ENGLAND Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. 27696117 2017
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 GeneticVariation disease UNIPROT Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. 27696117 2017
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 GeneticVariation disease UNIPROT Deficiency of HTRA2Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. 27208207 2016
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 Biomarker disease GENOMICS_ENGLAND Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. 18401856 2008
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 Biomarker disease GENOMICS_ENGLAND Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 15961413 2005
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 Biomarker disease CTD_human
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.500 Therapeutic disease RGD UCF-101, a novel Omi/HtrA2 inhibitor, protects against cerebral ischemia/reperfusion injury in rats. 19462455 2009
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.500 Biomarker disease CTD_human Modulation of the Omi/HtrA2 signaling pathway after transient focal cerebral ischemia in mouse brains that overexpress SOD1. 15306124 2004
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.400 Biomarker disease GENOMICS_ENGLAND We used whole exome sequencing (WES) to identify the molecular basis of an early-onset mitochondrial syndrome-pathogenic biallelic variants in the HTRA2 gene, encoding a mitochondria-localised serine protease-in five subjects from two unrelated families characterised by seizures, neutropenia, hypotonia and cardio-respiratory problems. 27696117 2017
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.400 Biomarker disease HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.320 GeneticVariation group BEFREE Twenty-nine of 109 probands with autosomal-recessive inheritance of parkinsonism (26.6%) were found to carry mutations in Parkin, PINK1, GBA, or HTRA2. 30788857 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.320 Biomarker group BEFREE HTRA2 and PINK1 loss of function causes parkinsonism in humans and animals. 29050400 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.320 Biomarker group CTD_human Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells. 26558463 2015
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome 		0.300 Biomarker disease CTD_human Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells. 26558463 2015
CUI: C0752097
Disease: Autosomal Dominant Juvenile Parkinson Disease
Autosomal Dominant Juvenile Parkinson Disease 		0.300 Biomarker disease CTD_human Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells. 26558463 2015
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism 		0.300 Biomarker disease CTD_human Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells. 26558463 2015
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.300 Biomarker disease CTD_human Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells. 26558463 2015