FANCM, FA complementation group M, 57697

N. diseases: 147; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 AlteredExpression disease BEFREE However, although FANCM contains a helicase domain with translocase activity, this is not required for its role in activating the FA pathway. 22279085 2012
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 AlteredExpression disease BEFREE However, genetic inactivation of FANCM in mouse and DT40 cells causes only a partial defect in the FA pathway activation, suggesting the existence of redundant DNA damage sensors. 21975120 2011
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE In this review, we discuss the recent progress in the study of the FA pathway, such as the identification of new FANCM-binding partners and the identification of RAD51C and FAN1 (Fanconi-associated nuclease 1) as new FA pathway-related proteins. 20713514 2010
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE These studies help to explain how FANCM (mutated in the human cancer predisposition syndrome, Fanconi's anaemia (FA)) co-ordinately regulates checkpoint signalling and replication fork progression. 20160754 2010
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE Stabilizing and remodeling the blocked DNA replication fork: anchoring FANCM and the Fanconi anemia damage response. 20347418 2010
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE FANCM (FA complementation group M), and its binding partner, FAAP24, anchor the multisubunit FA core complex to chromatin after DNA damage and may contribute to ICL-specific cellular response. 20670894 2010
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE Moreover, a common phenotype of BS and FA cells-an elevated frequency of sister chromatid exchanges-was due to a loss of interaction of the two complexes through FANCM. 20064461 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE Because both mutants restored the formation of FANCD2 foci, we conclude that FANCM functions in an FA core complex-dependent and -independent manner. 19423727 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE This fact and novel data sustaining greater functional relevance of the three genes within the FA pathway prompted us to scrutinize all coding sequences and splicing sites of FANCI, FANCL and FANCM in 95 BRCA1/2-negative index cases from Spanish high-risk breast cancer families. 19737859 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE FANCM: A landing pad for the Fanconi Anemia and Bloom's Syndrome complexes. 20064455 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 SusceptibilityMutation disease CLINVAR Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. 19423727 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 AlteredExpression disease BEFREE Moreover, we find that the DNA translocase activity of FANCM, which is dispensable for FA pathway activation, is required for its role in ATR/Chk1 signaling. 18995830 2008
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 AlteredExpression disease LHGDN Moreover, we find that the DNA translocase activity of FANCM, which is dispensable for FA pathway activation, is required for its role in ATR/Chk1 signaling. 18995830 2008
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE Our data suggest an evolutionary link between Fanconi anemia-associated proteins and DNA repair; FANCM may act as an engine that translocates the Fanconi anemia core complex along DNA. 16116422 2005
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 SusceptibilityMutation disease CLINVAR Our data suggest an evolutionary link between Fanconi anemia-associated proteins and DNA repair; FANCM may act as an engine that translocates the Fanconi anemia core complex along DNA. 16116422 2005
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease CTD_human Our data suggest an evolutionary link between Fanconi anemia-associated proteins and DNA repair; FANCM may act as an engine that translocates the Fanconi anemia core complex along DNA. 16116422 2005
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 Biomarker group GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 Biomarker group HPO
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.310 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.310 GeneticVariation disease BEFREE Human FANCM has been linked to Fanconi anemia, a syndrome characterized by cancer predisposition, developmental disorder, and bone marrow failure. 26341555 2015
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker phenotype GENOMICS_ENGLAND Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. 28837162 2018
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.300 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.300 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.300 Biomarker disease GENOMICS_ENGLAND The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies. 28376765 2017