HFM1, helicase for meiosis 1, 164045

N. diseases: 39; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		0.010 Biomarker disease BEFREE The median time to AKI onset was significantly shorter with PTZ compared with MER (3 vs 7 days; p=0.009). 30175410 2018
CUI: C0027121
Disease: Myositis
Myositis 		0.010 Biomarker disease BEFREE Myositis-specific antibodies (MSAs) include antibodies to cytoplasmic signal recognition particle (SRP) and various tRNA synthetases as well as the nuclear helicase protein Mi-2. 28720599 2017
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.010 GeneticVariation disease BEFREE We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS). 28711741 2017
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.010 GeneticVariation disease BEFREE We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS). 28711741 2017
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		0.010 Biomarker disease BEFREE Dysfunctional XPD helicase protein from polymorphic diversity may contribute to increased risk of developing cancers. 26086338 2015
CUI: C4733329
Disease: familial acute myeloid leukemia
familial acute myeloid leukemia 		0.010 GeneticVariation disease BEFREE Here, we describe an adult familial acute myeloid leukemia (AML) syndrome caused by germline mutations in the DEAD/H-box helicase gene DDX41. 25920683 2015
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.010 Biomarker disease BEFREE Specifically, minichromosome maintenance (MCM) helicase proteins are less abundant with age and SSc, and they exhibit an altered subcellular distribution. 24496236 2014
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.010 GeneticVariation disease BEFREE FHF-E associated helicase mutations resulted in only marginal decrease in the virus replication suggesting alternate function/s of the helicase protein. 24630891 2014
CUI: C0033300
Disease: Progeria
Progeria 		0.010 Biomarker disease BEFREE We considered cells from patients with Hutchinson-Gilford progeria syndrome (HGPS) with an altered nucleoskeletal protein; a mouse model of XFE progeroid syndrome caused by a deficiency of ERCC1-XPF DNA repair nuclease; and patients with Werner syndrome (WS) lacking a functional WRN exonuclease and helicase protein. 22127259 2012
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		0.010 Biomarker disease BEFREE We considered cells from patients with Hutchinson-Gilford progeria syndrome (HGPS) with an altered nucleoskeletal protein; a mouse model of XFE progeroid syndrome caused by a deficiency of ERCC1-XPF DNA repair nuclease; and patients with Werner syndrome (WS) lacking a functional WRN exonuclease and helicase protein. 22127259 2012
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 GeneticVariation disease BEFREE Mutational analyses revealed a novel 246bp LTAg deletion in the helicase gene in 6 of 19 MCPyV-positive CLL cases. 20817850 2010
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 Biomarker group BEFREE RIG-I and MDA5 are cytoplasmic DEX(D/H) helicase proteins that can induce signaling in response to RNA ligands, including those from viral infections. 18411269 2008
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.010 GeneticVariation disease BEFREE The A946T polymorphism in the interferon induced helicase gene does not confer susceptibility to Graves' disease in Chinese population. 18026693 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE BACH1 (BRCA1-associated C-terminal helicase 1; also known as BRCA1-interacting protein 1, BRIP1) is a helicase protein that interacts in vivo with BRCA1, the protein product of one of the major genes for hereditary predisposition to breast cancer. 16430786 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE BACH1 (BRCA1-associated C-terminal helicase 1; also known as BRCA1-interacting protein 1, BRIP1) is a helicase protein that interacts in vivo with BRCA1, the protein product of one of the major genes for hereditary predisposition to breast cancer. 16430786 2006
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		0.010 GeneticVariation disease BEFREE Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and LImb malformation, and slender NOse and NOrmal intelligence). 15897384 2005
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		0.010 GeneticVariation disease BEFREE Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and LImb malformation, and slender NOse and NOrmal intelligence). 15897384 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE Isolation of HELAD1, a novel human helicase gene up-regulated in colorectal carcinomas. 12214280 2002
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 Biomarker group BEFREE ACE, PAI-1, decorin and Werner helicase genes are not associated with the development of renal disease in European patients with type 1 diabetes. 10495473 1999
CUI: C0085293
Disease: Hepatitis E
Hepatitis E 		0.010 GeneticVariation disease BEFREE The genomic variability of hepatitis E virus (HEV) was examined by restriction endonuclease analysis (REA) of four genomic cDNA copies comprising a 499 bp segment of the putative polymerase gene, a 264 bp segment of the helicase gene, and two, 680 bp and 448 bp, segments of the capsid gene. 9506814 1998
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 GeneticVariation disease BEFREE Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population. 9021029 1997
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.010 GeneticVariation disease BEFREE Differential developmental expression of the rep B and rep D xeroderma pigmentosum related DNA helicase genes from Dictyostelium discoideum. 9171087 1997
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.020 GeneticVariation disease BEFREE Hepatitis C viruses (HCV) encode a helicase enzyme that is essential for viral replication and assembly (nonstructural protein 3 [NS3]). 29070684 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 Biomarker disease BEFREE IFIH1 (interferon induced with helicase C domain 1) as one of antiviral helicase genes mediating type I interferon production, plays an essential role in the pathogenesis of SLE. 29930297 2018
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.020 GeneticVariation disease BEFREE Loss-of-function mutations in the WRN helicase gene cause Werner syndrome- a progeroid syndrome with an elevated risk of cancer and other age-associated diseases. 28276523 2017