HPCAL1, hippocalcin like 1, 3241

N. diseases: 16; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		0.100 GeneticVariation disease GWASDB Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. 20460270 2010
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 Biomarker disease BEFREE These CpGs map to genes with key roles in calcium regulation (ATP2B2, CASR, GUCA1B, HPCAL1), and genes identified in genome- and epigenome-wide studies of serum calcium (CASR), serum calcium-related risk of CHD (CASR), coronary artery calcified plaque (PTPRN2), and kidney function (CDH23, HPCAL1), among others. 31424985 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 AlteredExpression disease BEFREE The present study revealed that the gene HPCAL1 was up-regulated by Ca<sup>2+</sup> in the tissues and cells of GBM. 30843345 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE HPCAL1 promotes glioblastoma proliferation via activation of Wnt/β-catenin signalling pathway. 30843345 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE HPCAL1 promotes glioblastoma proliferation via activation of Wnt/β-catenin signalling pathway. 30843345 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 AlteredExpression disease BEFREE The present study revealed that the gene HPCAL1 was up-regulated by Ca<sup>2+</sup> in the tissues and cells of GBM. 30843345 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 AlteredExpression disease BEFREE Our data suggests that the pathways of miR204-HPCAL1-lncRNAHOTTIP and miR122-TGFBRAP1 were likely involved in the carcinogenic progress due to the presence of HCV core, and that overexpression of miR122 and miR204 might inhibit the HCC progress by down-regulation of TGFBRAP1 and HOTTIP expression. 29535540 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE Our data suggests that the pathways of miR204-HPCAL1-lncRNAHOTTIP and miR122-TGFBRAP1 were likely involved in the carcinogenic progress due to the presence of HCV core, and that overexpression of miR122 and miR204 might inhibit the HCC progress by down-regulation of TGFBRAP1 and HOTTIP expression. 29535540 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Our results suggest that certain PHOX2B variants associated with neuroblastoma pathogenesis, because of their inability to bind to key interacting proteins such as HPCAL1, may predispose to this malignancy by impeding the differentiation of immature sympathetic neurons. 23873030 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 Biomarker disease BEFREE Our results suggest that certain PHOX2B variants associated with neuroblastoma pathogenesis, because of their inability to bind to key interacting proteins such as HPCAL1, may predispose to this malignancy by impeding the differentiation of immature sympathetic neurons. 23873030 2014
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 Biomarker disease BEFREE Our results suggest that certain PHOX2B variants associated with neuroblastoma pathogenesis, because of their inability to bind to key interacting proteins such as HPCAL1, may predispose to this malignancy by impeding the differentiation of immature sympathetic neurons. 23873030 2014
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.010 GeneticVariation disease BEFREE We demonstrate that both WT PHOX2B and the neuroblastoma-associated R100L missense and the CCHS-associated alanine expansion variants induce nuclear translocation of HPCAL1 in a Ca(2+)-independent manner, while the neuroblastoma-associated 676delG frameshift and K155X truncation mutants impair subcellular localization of HPCAL1, causing it to remain in the cytoplasm. 23873030 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Our results suggest that certain PHOX2B variants associated with neuroblastoma pathogenesis, because of their inability to bind to key interacting proteins such as HPCAL1, may predispose to this malignancy by impeding the differentiation of immature sympathetic neurons. 23873030 2014
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 Biomarker disease BEFREE Our results suggest that certain PHOX2B variants associated with neuroblastoma pathogenesis, because of their inability to bind to key interacting proteins such as HPCAL1, may predispose to this malignancy by impeding the differentiation of immature sympathetic neurons. 23873030 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 Biomarker group BEFREE Our study suggests that GREB1 and HPCAL1 are candidate hypertension-susceptibility genes in the Japanese general population and supports previous studies that also identified hypertension-related loci in this narrow region. 15834280 2005