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: C3810376
Disease: PREMATURE OVARIAN FAILURE 9
PREMATURE OVARIAN FAILURE 9 		0.700 CausalMutation disease CLINVAR
CUI: C3810376
Disease: PREMATURE OVARIAN FAILURE 9
PREMATURE OVARIAN FAILURE 9 		0.700 Biomarker disease CTD_human
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.120 Biomarker disease HPO
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		0.100 Biomarker phenotype HPO
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		0.100 Biomarker phenotype HPO
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.020 GeneticVariation disease BEFREE Human sera containing antibodies that recognize GBV-A and/or GBV-B recombinant proteins were subjected to polymerase chain reaction studies with degenerate oligonucleotides capable of amplifying a segment of the putative helicase genes from GBV-A, GBV-B or hepatitis C virus. 7585124 1995
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: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation disease BEFREE WRN helicase gene strongly suggests that most of the chromosomes carrying either mutation 1 or 4 were derived from two single founders. 9048918 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: 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: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE The difference in Mfs is one aspect of the large variation in the phenotype observed between WRN and BLM patients, suggesting a different role of the responsible genes, both of which belong to the RecQ DNA helicase gene family, in the control of somatic mutagenesis. 9856481 1998
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.020 Biomarker disease 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: 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: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation disease BEFREE Two other recessive disorders, Bloom syndrome and Werner syndrome, are known to be due to other human RECQ helicase gene mutations. 10678659 2000
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		0.040 GeneticVariation disease BEFREE This report strengthens the association between mutations in RECQL4 helicase gene and RTS. 10678659 2000
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation disease BEFREE The muation on WS helicase gene was analyzed by mutant-allele-specific amplification and oligomer ligation assay. 11287731 2001
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation disease BEFREE The chromosome 8p11-12 Werner syndrome (WRN ) locus encodes a RecQ helicase protein of unknown function that possesses both 3' --> 5' helicase and 3' --> 5' exonuclease activities. 11316787 2001
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE The gene responsible for WS has been identified as WRN, a member of the RecQ family of helicase genes. 11498731 2001
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.040 Biomarker disease BEFREE The causative gene for BS is the BLM gene which encodes the BLM RecQ helicase protein. 12060858 2002
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: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE These results define a physiological role for the WRN RecQ helicase protein in RAD51-dependent HR and identify a mechanistic link between defective recombination resolution and limited cell division potential, DNA damage hypersensitivity, and genetic instability in human somatic cells. 12242278 2002
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		0.040 GeneticVariation disease BEFREE The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients. 12952869 2003
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		0.040 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: 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