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 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: 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: 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: 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
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.120 GeneticVariation phenotype 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: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.120 Biomarker phenotype HPO
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
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 Among these, MCM4, 6 and 10 show increased frequency of over expression along with advancement of tumor stages. 23874974 2013
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