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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE Variants in CFH and ARMS2/HTRA1, commonly associated with advanced AMD, were independently associated with an increase in drusen burden determined by OCT in an allele dose dependent manner, in eyes with early and intermediate AMD. 31658355 2019
CUI: C1260959
Disease: Drusen
Drusen
0.090 Biomarker disease BEFREE Drusen area ≥ the median was independently associated with a higher number of risk alleles for CFH risk score and risk variants in C3 and ARMS2/HTRA1 compared with eyes with no measurable drusen. 31658355 2019
CUI: C0015967
Disease: Fever
Fever
0.100 Biomarker phenotype BEFREE High temperature requirement A1 (HtrA1) is serine protease that has been shown to be increased in degenerated intervertebral discs as a result of an increase in the expression of matrix metalloproteinases (MMPs), but no study has focused on the effect of HtrA1 on a disintegrin-like and metalloproteinase with thrombospondin motifs (ADAMTSs). 31497227 2019
Diabetes Mellitus, Insulin-Dependent
0.010 AlteredExpression disease BEFREE Our findings indicated that HtrA1 can induce the expression of ADAMTS-5 in HNPCs via the ERK/NF-κB/JNK signaling pathway, and our study also elucidated the involved induction mechanisms in HNPCs, which may provide new insights for the treatment of IDD. 31497227 2019
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder
0.010 AlteredExpression group BEFREE Our findings indicated that HtrA1 can induce the expression of ADAMTS-5 in HNPCs via the ERK/NF-κB/JNK signaling pathway, and our study also elucidated the involved induction mechanisms in HNPCs, which may provide new insights for the treatment of IDD. 31497227 2019
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
0.800 GeneticVariation disease BEFREE Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a heritable, rare small vessel disease, which is caused by HTRA1 mutations and mostly reported Japanese and Chinese population. 31494012 2019
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: C0015967
Disease: Fever
Fever
0.100 Biomarker phenotype BEFREE Exosomal antithrombin is found complexed with the serine protease high temperature requirement A1 (HTRA1), whose cellular levels are increased after serum deprival, the condition used to collect exosomes. 31445073 2019
LATE-ONSET RETINAL DEGENERATION (disorder)
0.010 Biomarker disease BEFREE These results implicate HTRA1 and its interaction with CTRP5 in L-ORD pathology. 31385385 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE Regardless of the treatments, cells expressed high levels of survivin, HSP60 and HTRA, indicating that these proteins may play central roles in SW480 CRC cell immortality. 31272364 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.340 GeneticVariation disease BEFREE Mutations in the Notch receptor 3 gene (NOTCH3) and the HtrA serine peptidase 1 gene (HTRA1) are 2 genetic causes for CADASIL. 31212292 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.050 Biomarker disease BEFREE The serine protease high-temperature requirement protein A1 (HtrA1) is associated with protein-misfolding disorders such as Alzheimer's disease and transforming growth factor β-induced protein (TGFBIp)-linked corneal dystrophy. 31197037 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.020 Biomarker disease BEFREE Significantly, these peptides have been previously identified in amyloid deposits <i>in vivo</i>, supporting the idea that HtrA1 is a causative agent for TGFBIp-associated amyloidosis in corneal dystrophy. 31197037 2019
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.010 Biomarker disease BEFREE In summary, our results indicate that TGFBIp is an HtrA1 substrate and that some mutations in the gene encoding TGFBIp cause aberrant HtrA1-mediated processing that results in amyloidogenesis in corneal dystrophies. 31197037 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Understanding oxidative stress and HTRA1 locus in abnormal angiogenesis resulting in wet AMD pathology is an important step in developing a novel therapeutic approach. 31100080 2019
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE Understanding oxidative stress and HTRA1 locus in abnormal angiogenesis resulting in wet AMD pathology is an important step in developing a novel therapeutic approach. 31100080 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE In conclusion, HTRA1 promotes transdifferentiation of normal fibroblasts to cancer-associated fibroblasts by increasing bFGF/FGF2 expression, which is dependent upon activation of NF-κB signaling in gastric cancer. 31088682 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE In conclusion, HTRA1 promotes transdifferentiation of normal fibroblasts to cancer-associated fibroblasts by increasing bFGF/FGF2 expression, which is dependent upon activation of NF-κB signaling in gastric cancer. 31088682 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.030 AlteredExpression disease BEFREE In conclusion, HTRA1 promotes transdifferentiation of normal fibroblasts to cancer-associated fibroblasts by increasing bFGF/FGF2 expression, which is dependent upon activation of NF-κB signaling in gastric cancer. 31088682 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.030 AlteredExpression disease BEFREE In conclusion, HTRA1 promotes transdifferentiation of normal fibroblasts to cancer-associated fibroblasts by increasing bFGF/FGF2 expression, which is dependent upon activation of NF-κB signaling in gastric cancer. 31088682 2019
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension
0.010 AlteredExpression phenotype BEFREE The aim of this study was to investigate the potential utility of serum HtrA1 and HtrA3, serine proteases that are highly expressed in the developing placenta, at 15 and 20 weeks of gestation for predicting later development of adverse pregnancy outcomes of preeclampsia (PE), gestational hypertension (GHT), preterm birth (PTB), and small for gestational age (SGA) birth. 31013509 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE A significant genotype and variant allele association was found of rs10490924 in ARMS2/HTRA1 with wet AMD, while the SNPs in CFH, CFB, and C3 were not associated with AMD in the current Pakistani cohort. 30895599 2019
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: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.090 AlteredExpression disease BEFREE We further demonstrated inhibition of HtrA1, the lowering of Mankin scores to wild type control levels, and the limiting of OA progressive damage with treatment of Losartan. 30610922 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019