HPSE2, heparanase 2 (inactive), 60495

N. diseases: 81; N. variants: 46
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 GeneticVariation disease BEFREE Mutations in leucine-rich-repeats and immunoglobulin-like-domains 2 (LRIG2) or in heparanase 2 (HPSE2) cause urofacial syndrome, a devastating autosomal recessive disease of functional bladder outlet obstruction. 30885509 2019
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 Biomarker disease MGD Here, we show that deletion of Hpse2 is sufficient to cause the UFS-like phenotype in mice. 25510506 2015
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 GeneticVariation disease BEFREE Here, we show that deletion of Hpse2 is sufficient to cause the UFS-like phenotype in mice. 25510506 2015
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 GeneticVariation disease BEFREE In conclusion, heparanase 2 is an autonomic neural protein implicated in bladder emptying, but HPSE2 variants are uncommon in urinary diseases resembling UFS. 25145936 2015
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 GeneticVariation disease BEFREE The aim of this study was to analyse HPSE2 mutations in patients with UFS and NNNB or severe lower urinary tract dysfunction (LUTD) without abnormal facial expression. 25924634 2015
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 GeneticVariation disease BEFREE We have previously shown that UFS is also caused by mutations in HPSE2, encoding heparanase-2. 23313374 2013
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 GeneticVariation disease BEFREE By identifying the first HPSE2 missense mutation it also provides a starting point for studies aimed at functionally understanding the unusual combination of symptoms as characterizing UFS. 21332471 2012
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 GeneticVariation disease BEFREE Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. 21450525 2011
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 Biomarker disease GENOMICS_ENGLAND Complete loss of HPSE2 function in UFS patients suggests that HPSE2 may be important for the synergic action of muscles implicated in facial expression and urine voiding. 20560209 2010
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 Biomarker disease BEFREE Homozygous exonic deletions, nonsense mutations, and frameshift mutations in five further unrelated families confirmed HPSE2 as the causative gene for UFS. 20560210 2010
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 Biomarker disease BEFREE Complete loss of HPSE2 function in UFS patients suggests that HPSE2 may be important for the synergic action of muscles implicated in facial expression and urine voiding. 20560209 2010
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 Biomarker disease CTD_human Complete loss of HPSE2 function in UFS patients suggests that HPSE2 may be important for the synergic action of muscles implicated in facial expression and urine voiding. 20560209 2010
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 Biomarker disease GENOMICS_ENGLAND Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction? 19839856 2009
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 CausalMutation disease CLINVAR
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		0.890 Biomarker disease GENOMICS_ENGLAND
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.130 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.130 AlteredExpression disease BEFREE We treated HL-60 and ATRA-resistant HL-60 (HL-60R) cells that express mutated RARalpha and very low levels of RARbeta, RARgamma and RXRalpha with 4-HPR (2 microM) for 3 days. 15291358 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.130 Biomarker disease BEFREE Bone marrow aspirates from 35 MDS patients, including 25 refractory anemia (RA), 10 refractory anemia with excess of blasts (RAEB) or refractory anemia with excess of blasts in transformation (RAEBt) and 7 cases of acute myeloid leukemia (AML) transformed from MDS, were studied on methylation rate in 5' end of CT gene by polymerase chain reaction (PCR) technique using methylation-sensitive endonuclease Hpa II with external references of undigested DNA and Msp I digested DNA and internal reference of 112 bp fragment containing codon 61 of N-ras oncogene. 11245020 1998
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.130 GeneticVariation disease BEFREE A monoclonal or oligoclonal pattern could be obtained by digestion with Hha I in 18/22 (82%) patients with acute myeloid leukaemia who had previously shown hypermethylation of both alleles using Hpa II, although in six of these patients differences in methylation could still be demonstrated between leukaemic and remission samples. 8289487 1994
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.110 GeneticVariation group GWASCAT Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. 27322543 2016
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.110 GeneticVariation disease BEFREE Comprehensive blood chemistry and urinalysis indicate that Hpse2 mutants have renal dysfunction and malnutrition. 25510506 2015
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.110 GeneticVariation group BEFREE We investigated the prevalence of several prothrombotic genetic risk factors in patients with migraine: factor V R/Q 506, factor II 20210 G/A, decanucleotide insertion/deletion in the factor VII promoter, and the platelet HPA-1 and HPA-2 alloantigenic systems, by genotypic identification in an age- and sex-matched case-control study including 106 patients with migraine (49 with aura, and 57 without aura). 9673804 1998
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.110 Biomarker disease HPO
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.100 GeneticVariation disease GWASDB Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations. 23829686 2013