|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Dwarfism
|
0.010 |
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 |
|
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 |
|
Fanconi Anemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Consistent with the observed DNA breakage disorder, MCM4 and PRKDC are both involved in the ATM/ATR (ataxia-telangiectasia-mutated/ATM-Rad 3-related) DNA repair pathway, which is defective in patients with Fanconi's anaemia.
|
22499342 |
2012 |
|
Carcinogenesis
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
A dominantly acting murine allele of Mcm4 causes chromosomal abnormalities and promotes tumorigenesis.
|
23133403 |
2012 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Nasopharyngeal carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
has-miR-615-3p might take part in the pathogenetic process of NPC through regulating MCM4 which is enriched in cell cycle.
|
25973099 |
2015 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Squamous cell carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The quantitative reverse transcriptase-polymerase chain reaction analysis verified the upregulation of ASAH1, PCBP2, DDX5, MCM5, TAGLN2, hnRNPA1, ENO1, TYPH, CYC, and MCM4 in squamous cell carcinoma compared to normal cervix ( p < 0.05).
|
28443473 |
2017 |
|
Laryngeal Squamous Cell Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The results showed that siRNA of MCM4 could significantly inhibit LSCC cell line UMSCC 5 proliferation and induce apoptosis.
|
29135113 |
2019 |