HVCN1, hydrogen voltage gated channel 1, 84329

N. diseases: 16; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery
0.200 Biomarker disease RGD Neurovascular protection in voltage-gated proton channel Hv1 knock-out rats after ischemic stroke: interaction with Na 31250553 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13
0.100 CausalMutation disease CLINVAR
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia
0.010 Biomarker disease BEFREE VSOP/Hv1 is a potential therapeutic target for brain ischemia, since Hvcn1 deficiency reduces microglial ROS production and protects brain from neuronal damage (Wu et al.). 28628214 2017
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 GeneticVariation group BEFREE This study expands the number of mutated genes described in several known signaling pathways and complexes involved in lymphoma pathogenesis (BCR, Notch, SWitch/sucrose nonfermentable (SWI/SNF), vacuolar ATPases) and identified novel recurrent mutations (EGR1/2, POU2AF1, BTK, ZNF608, HVCN1) that require further investigation in the context of FL biology, prognosis, and treatment. 28064239 2017
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
0.010 Biomarker disease BEFREE This study expands the number of mutated genes described in several known signaling pathways and complexes involved in lymphoma pathogenesis (BCR, Notch, SWitch/sucrose nonfermentable (SWI/SNF), vacuolar ATPases) and identified novel recurrent mutations (EGR1/2, POU2AF1, BTK, ZNF608, HVCN1) that require further investigation in the context of FL biology, prognosis, and treatment. 28064239 2017
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.010 GeneticVariation disease BEFREE This study expands the number of mutated genes described in several known signaling pathways and complexes involved in lymphoma pathogenesis (BCR, Notch, SWitch/sucrose nonfermentable (SWI/SNF), vacuolar ATPases) and identified novel recurrent mutations (EGR1/2, POU2AF1, BTK, ZNF608, HVCN1) that require further investigation in the context of FL biology, prognosis, and treatment. 28064239 2017
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
0.010 GeneticVariation disease BEFREE This study expands the number of mutated genes described in several known signaling pathways and complexes involved in lymphoma pathogenesis (BCR, Notch, SWitch/sucrose nonfermentable (SWI/SNF), vacuolar ATPases) and identified novel recurrent mutations (EGR1/2, POU2AF1, BTK, ZNF608, HVCN1) that require further investigation in the context of FL biology, prognosis, and treatment. 28064239 2017
CUI: C1720983
Disease: Channelopathies
Channelopathies
0.010 Biomarker disease BEFREE In an attempt to identify specific channels, we tested neutrophils from knock-out mouse models including CLIC1, ClC3, ClC4, ClC7, KCC3, KCNQ1, KCNE3, KCNJ15, TRPC1/3/5/6, TRPA1/TRPV1, TRPM2, and TRPV2, and double knockouts of CLIC1, ClC3, KCC3, TRPM2, and KCNQ1 with HVCN1, and humans with channelopathies involving BEST1, ClC7, CFTR, and MCOLN1. 28293191 2017
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.010 AlteredExpression disease BEFREE HVCN1 is expressed in malignant B cells that rely on BCR signaling, such as chronic lymphocytic leukemia (CLL) cells. 25425665 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 Biomarker group BEFREE Autoimmune disorder phenotypes in Hvcn1-deficient mice. 23231444 2013
CUI: C0027697
Disease: Nephritis
Nephritis
0.010 Biomarker disease BEFREE In the present paper we show that Hvcn1 (voltage-gated hydrogen channel 1)-knockout mice show splenomegaly, autoantibodies and nephritis, that are reminiscent of human autoimmune diseases phenotypes. 23231444 2013
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.010 Biomarker group BEFREE Upon viral infection this was remarkably enhanced in Hvcn1-deficient mice. 23231444 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 AlteredExpression disease BEFREE Clinicopathological and biological significance of human voltage-gated proton channel Hv1 protein overexpression in breast cancer. 22367212 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 AlteredExpression disease BEFREE Clinicopathological and biological significance of human voltage-gated proton channel Hv1 protein overexpression in breast cancer. 22367212 2012
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 GeneticVariation disease BEFREE These data suggest that mtDNA mutations within the D-Loop region, particularly the HV I and HV II segments, are a frequent event in osteosarcomas. 16242839 2006