HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 GeneticVariation group BEFREE Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects. 30859180 2019
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 GeneticVariation group CLINVAR
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 GeneticVariation group BEFREE We recently demonstrated that mutations in the high-temperature requirement A (HTRA) serine peptidase 1 (HTRA1) gene cause a hereditary cerebral small-vessel disease, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). 21320870 2011
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 Biomarker group BEFREE Therefore, HTRA1 represents another new gene to be considered in future studies of cerebral small-vessel diseases, as well as alopecia and degenerative vertebral/disk diseases. 21215656 2011
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 Biomarker group BEFREE Screening of HTRA1 should be considered in patients with familial CSVD. 29305662 2018
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 GeneticVariation group BEFREE Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. 26063658 2015
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 GeneticVariation group BEFREE Thus, the CADASIL-like family disease may be caused by heterozygous HTRA1 gene mutation, which leads to autosomal dominant hereditary cerebral small vessel disease. 29561953 2018
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 GeneticVariation group BEFREE Recently, clinical studies have indicated that some patients with heterozygous mutations in HTRA1 may also suffer CSVD. 29797751 2018
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 GeneticVariation group BEFREE Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease. 28782182 2017
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 GeneticVariation group BEFREE To elucidate the molecular mechanism of mutant HTRA1-dependent cerebral small vessel disease in heterozygous individuals. 27164673 2016
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 Biomarker group BEFREE Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling. 25369932 2014
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
0.500 Biomarker group GENOMICS_ENGLAND Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. 26063658 2015
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.310 Biomarker group CTD_human Bronchial airway gene expression signatures in mouse lung squamous cell carcinoma and their modulation by cancer chemopreventive agents. 27935865 2017
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.310 AlteredExpression group LHGDN Analysis of HtrA1 serine protease expression in human lung cancer. 17094466 2006
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.110 Biomarker group BEFREE Also reviewed is recent progress in understanding single-gene disorders in which stroke is a major feature of the phenotype, including CADASIL, CARASIL, hereditary angiopathy with nephropathy, aneurysm and muscle cramps, and Fabry disease and progress in pharmacogenomics as it relates to response to antiplatelet therapy. 21058051 2011
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.110 GeneticVariation group GWASCAT Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.110 Biomarker group HPO
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
0.110 Biomarker group HPO
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
0.110 GeneticVariation group BEFREE Leukoencephalopathy and small vessel disease without any risk factors is a significant finding for the differential diagnosis of HTRA1 gene pathology. 31494012 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE The serine protease HTRA1 is involved in several vascular diseases and its expression is often deregulated in cancer. 29713059 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE The HTRA1 gene encoding an evolutionary conserved protein quality-control factor can be epigenetically silenced or inactivated by mutation under pathologic conditions such as cancer. 29863874 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Emerging evidence has demonstrated that high-temperature requirement protein A1 (HtrA1) appears to be involved in several important biological processes in mammals such as growth, apoptosis, embryogenesis, invasion, metastasis, and cancer and has been verified to be reduced in a variety of human tumors. 23079781 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE In A549 cells, stable knockdown of HtrA1 expression promoted cancer stem cell-like properties and CDDP insensitivity, however, these effects were blocked by inhibition of PI3K/Akt pathway using LY294002. 24356998 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE High temperature requirement factor A1 (HtrA1) plays an important role in cancer cell proliferation, migration, apoptosis, and differentiation. 30484491 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE These results indicate the implication of HtrA proteins in thyroid carcinogenesis suggest that HtrA3 variants may play different roles in cancer development, and that the increased HtrA3-L levels in thyroid tissue could be correlated with the development of malignant lesions. 22923201 2012