Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 GermlineCausalMutation disease ORPHANET MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. 22354170 2012
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 GermlineCausalMutation disease ORPHANET Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. 22405088 2012
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 CausalMutation disease CLINVAR
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 Biomarker disease CTD_human
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 Biomarker disease GENOMICS_ENGLAND A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8. 16532402 2006
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.300 Biomarker disease GENOMICS_ENGLAND MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. 22354170 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.020 Biomarker disease BEFREE HPV-type-specific response of cervical cancer cells to cisplatin after silencing replication licensing factor MCM4. 26188903 2015
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.020 AlteredExpression disease BEFREE MCM4, 5 and 6 also show differential expression in different types of lesion, while MCM2 and MCM10 are over expressed in cervical cancer irrespective of clinico-pathological parameters. 23874974 2013
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.020 Biomarker disease BEFREE These results demonstrate that MCM2, MCM4 and MCM10 are potential prognostic markers and therapeutic targets for LUAD. 31545501 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.020 AlteredExpression disease BEFREE Prognosis analysis in TCGA and KM plotter cohorts suggest that high abundance of MCM5, MCM8 and MCM4 notably correlated to poor LUAD overall survival. 31323040 2019
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.020 Biomarker disease BEFREE Novel gene defects in FGD have recently been recognised in mini-chromosome maintenance-deficient 4 homologue (MCM4) and nicotinamide nucleotide transhydrogenase (NNT). 23392095 2013
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.020 Biomarker disease BEFREE Recently mutations in mini chromosome maintenance-deficient 4 homologue (MCM4) and nicotinamide nucleotide transhydrogenase (NNT), genes involved in DNA replication and antioxidant defence respectively, have been recognised in FGD cohorts. 23279877 2013
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.020 Biomarker disease BEFREE HPV-type-specific response of cervical cancer cells to cisplatin after silencing replication licensing factor MCM4. 26188903 2015
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.020 AlteredExpression disease BEFREE MCM4, 5 and 6 also show differential expression in different types of lesion, while MCM2 and MCM10 are over expressed in cervical cancer irrespective of clinico-pathological parameters. 23874974 2013
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		0.020 Biomarker disease BEFREE Thus, partial MCM4 deficiency results in a genetic syndrome of growth retardation with adrenal insufficiency and selective NK deficiency. 22354167 2012
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		0.020 GeneticVariation disease BEFREE In summary, we have identified what we believe to be the first human mutation in MCM4 and have shown that it is associated with adrenal insufficiency, short stature, and NK cell deficiency. 22354170 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 Biomarker disease BEFREE Survival analysis in the GSE14520 cohort suggested that expression of <i>MCM2, MCM4, MCM5,</i> and <i>MCM6</i> were significantly associated with hepatitis B virus-related HCC overall survival (OS). 30026832 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 GeneticVariation disease BEFREE The HCC risk was lower in patients with the MCM4 rs2305952 CC (OR = 0.22, 95%CI: 0.08-0.63, P = 0.01) and with the CHEK1 rs515255 TC, TT, TC/TT (OR = 0.73, 95%CI: 0.56-0.96, P = 0.02; OR = 0.67, 95%CI: 0.46-0.97, P = 0.04; OR = 0.72, 95%CI: 0.56-0.92, P = 0.01, respectively). 27350734 2016
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.020 AlteredExpression disease BEFREE MCM4, 5 and 6 also show differential expression in different types of lesion, while MCM2 and MCM10 are over expressed in cervical cancer irrespective of clinico-pathological parameters. 23874974 2013
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.020 Biomarker disease BEFREE HPV-type-specific response of cervical cancer cells to cisplatin after silencing replication licensing factor MCM4. 26188903 2015
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 GeneticVariation disease BEFREE G364R mutation of MCM4 detected in human skin cancer cells affects DNA helicase activity of MCM4/6/7 complex. 25661590 2015
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma 		0.010 AlteredExpression disease BEFREE Protein expression of MCM4 (66.0 +/- 26.5% vs. 33.9 +/- 22.4%; P = 0.017), MCM6 (70.9 +/- 11.9 vs. 31.7 +/- 22.7; P = 0.0031), and MCM7 (76.5 +/- 16.4% vs. 34.9 +/- 25.5%; P = 0.0013) was significantly increased in tumour cells of MCC when compared to tumour cells of MM. 19453809 2009
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE We then immunohistochemically analyzed MCM4 expression in 156 surgically resected NSCLCs to correlate clinicopathologic characteristics. 20884074 2011