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: 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: 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 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 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 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 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 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: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.040 Biomarker disease BEFREE WRN appears to bind a distinct subpopulation of G4 motifs in human cells, when compared with the related Bloom syndrome RECQ helicase protein. 26984941 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 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: 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
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		0.040 GeneticVariation disease BEFREE RTS is transmitted in an autosomal recessive manner and is genetically heterogeneous: RTSII is caused by homozygous or compound heterozygous mutations in the RECQL4 helicase gene (detected in 60-65% of RTS patients), whereas the aetiology in RTSI remains unknown. 20113479 2010
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 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: 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: 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: 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: 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: 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: 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
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 GeneticVariation disease BEFREE Antiviral defenses are inappropriately activated in systemic lupus erythematosus (SLE) and association between SLE and the antiviral helicase gene, IFIH1, is well established. 28234905 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 GeneticVariation phenotype BEFREE They have achieved even greater prominence with the discovery that mutations in human helicase genes are responsible for a variety of genetic disorders and are associated with tumorigenesis. 23161009 2013
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.020 GeneticVariation disease BEFREE Cesarean section and interferon-induced helicase gene polymorphisms combine to increase childhood type 1 diabetes risk. 22110093 2011