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: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.320 GeneticVariation disease BEFREE A novel heterozygous missense mutation in HFM1 (c.3470G > A) associated with POI was identified by whole-exome sequencing. 31279343 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.320 GeneticVariation disease BEFREE Taken together, our data suggested that HFM1 gene might be associated with primary ovarian insufficiency in Chinese population. 26679638 2016
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.120 GeneticVariation disease BEFREE Taken together, our data suggested that HFM1 gene might be associated with primary ovarian insufficiency in Chinese population. 26679638 2016
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.120 GeneticVariation disease BEFREE A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency. 31279343 2019
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation disease BEFREE The effect of 2-deoxy-D-glucose on Werner syndrome RecQ helicase gene. 19306876 2009
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: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 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
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE The Werner syndrome helicase protein is required for cell proliferation, immortalization, and tumorigenesis in Scaffold attachment factor B1 deficient mice. 21464516 2011
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: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 AlteredExpression disease BEFREE The WRN RECQ helicase protein binds and unwinds G-quadruplex (G4) DNA substrates in vitro, and we identified significant enrichment in G4 sequence motifs at the transcription start site and 5' ends of first introns (false discovery rate < 0.001) of genes down-regulated in WS patient fibroblasts. 26984941 2016
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: 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: 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 GeneticVariation disease BEFREE Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. 29752965 2018
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: 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 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 GeneticVariation group BEFREE Their importance in maintaining genome stability is underscored by the fact that many human disorders, including cancer, are associated with mutations in helicase genes. 27102626 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 GeneticVariation group BEFREE Loss-of-function mutations in the human RecQ helicase genes WRN and BLM respectively cause the genetic instability/cancer predisposition syndromes Werner syndrome and Bloom syndrome. 20663905 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 GeneticVariation group 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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 GeneticVariation group BEFREE A number of missense mutations in human helicase genes are linked to chromosomal instability diseases characterized by age-related disease or associated with cancer, providing incentive for the characterization of molecular defects underlying aberrant cellular phenotypes. 23161009 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 GeneticVariation group BEFREE BS is caused by mutation in the BLM DNA helicase gene and involves a greatly enhanced risk of developing the range of malignancies seen in the general population. 16914751 2006
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.040 GeneticVariation disease BEFREE Bloom syndrome (BS) is caused by homozygous or compound heterozygous mutations in the RecQ DNA helicase gene BLM. 17407155 2007
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: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.040 GeneticVariation disease BEFREE Loss-of-function mutations in the human RecQ helicase genes WRN and BLM respectively cause the genetic instability/cancer predisposition syndromes Werner syndrome and Bloom syndrome. 20663905 2010