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 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: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.120 Biomarker phenotype HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		0.100 Biomarker group HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection 		0.100 Biomarker phenotype HPO
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.100 Biomarker phenotype HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 AlteredExpression group BEFREE Although MCMs are considered of utmost importance in tumor biology and as potential marker proteins, they were not unambiguously identified at the protein level and we therefore aimed to characterize MCM 4 in a medulloblastoma cell line and provide a protein chemical analytical tool. 16051427 2006
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.010 AlteredExpression disease BEFREE The use of mass spectrometrical identification unequivocally allowed determination of MCM 4 expression in a medulloblastoma cell line exclusively. 16051427 2006
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.010 AlteredExpression disease BEFREE The use of mass spectrometrical identification unequivocally allowed determination of MCM 4 expression in a medulloblastoma cell line exclusively. 16051427 2006
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.010 AlteredExpression disease BEFREE The use of mass spectrometrical identification unequivocally allowed determination of MCM 4 expression in a medulloblastoma cell line exclusively. 16051427 2006
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: C0027651
Disease: Neoplasms
Neoplasms 		0.040 AlteredExpression group BEFREE In a multivariable Cox model adjusted for tumor thickness, ulceration, age, and sex, expression of MCM4 (hazard ratio [HR] of death = 4.04, 95% confidence interval [CI] = 1.39 to 11.76; P = .010) and MCM6 (HR of death = 7.42, 95% CI = 1.99 to 27.64; P = .003) proteins was still statistically significantly associated with overall survival. 16595783 2006
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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		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: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE The Mcm4(Chaos3) allele destabilizes the MCM2-7 complex, leading to chromosome instability and the formation of spontaneous tumors in Mcm4(Chaos3) homozygous mice. 19481678 2009
CUI: C0025286
Disease: Meningioma
Meningioma 		0.010 Biomarker disease BEFREE We found a significant increase in MCM2 (8 fold), MCM3 (5 fold), MCM4 (4 fold), MCM5 (4 fold), MCM6 (3 fold), and MCM7 (5 fold) expressions in meningiomas. 19877719 2010
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
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.120 Biomarker phenotype BEFREE Thus, partial MCM4 deficiency results in a genetic syndrome of growth retardation with adrenal insufficiency and selective NK deficiency. 22354167 2012