ZNRD2, zinc ribbon domain containing 2, 10534

N. diseases: 311; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3782089
rs3782089
Entrez Id: 10534;254100
Gene Symbol: ZNRD2;ZNRD2-AS1
ZNRD2;ZNRD2-AS1
CUI: C0005890
Disease:
Body Height
T 0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs3782089
rs3782089
Entrez Id: 10534;254100
Gene Symbol: ZNRD2;ZNRD2-AS1
ZNRD2;ZNRD2-AS1
CUI: C0489786
Disease:
Height
T 0.700 GeneticVariation GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs1190999960
rs1190999960
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0596263
Disease:
Carcinogenesis
0.020 GeneticVariation BEFREE When the role of SCF<sup>Skp2/Cks1</sup>-mediated p27 ubiquitination in cancer was specifically tested by p27 Thr187-to-Ala knockin (p27T187A KI), it was found dispensable for Kras<sup>G12D</sup>-induced lung tumorigenesis but essential for Rb1-deficient pituitary tumorigenesis. 27181203 2017
dbSNP: rs1190999960
rs1190999960
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0596263
Disease:
Carcinogenesis
0.020 GeneticVariation BEFREE Substituting threonine 187 with alanine in p27Kip1 prevents pituitary tumorigenesis by two-hit loss of Rb1 and enhances humoral immunity in old age. 25583987 2015
dbSNP: rs1290923018
rs1290923018
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE Cyclin-Dependent Kinase Inhibitor 3 Promoted Cell Proliferation by Driving Cell Cycle from G1 to S Phase in Esophageal Squamous Cell Carcinoma. 31205550 2019
dbSNP: rs1190999960
rs1190999960
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE When the role of SCF<sup>Skp2/Cks1</sup>-mediated p27 ubiquitination in cancer was specifically tested by p27 Thr187-to-Ala knockin (p27T187A KI), it was found dispensable for Kras<sup>G12D</sup>-induced lung tumorigenesis but essential for Rb1-deficient pituitary tumorigenesis. 27181203 2017
dbSNP: rs1190999960
rs1190999960
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE When the role of SCF<sup>Skp2/Cks1</sup>-mediated p27 ubiquitination in cancer was specifically tested by p27 Thr187-to-Ala knockin (p27T187A KI), it was found dispensable for Kras<sup>G12D</sup>-induced lung tumorigenesis but essential for Rb1-deficient pituitary tumorigenesis. 27181203 2017
dbSNP: rs750814369
rs750814369
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE The p27 rs34330 (-79C/T) polymorphism has been widely studied for human cancer susceptibility. 28317869 2017
dbSNP: rs750814369
rs750814369
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The p27 rs34330 (-79C/T) polymorphism has been widely studied for human cancer susceptibility. 28317869 2017
dbSNP: rs1190999960
rs1190999960
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.010 GeneticVariation BEFREE In contrast, p27 mutations that enhance its stability (p27(T187A)) or nuclear retention (p27(S10A)) attenuate leukemogenesis over wild-type p27, validating the tumor-suppressor function of nuclear p27 in CML. 25293778 2014
dbSNP: rs1190999960
rs1190999960
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0598766
Disease:
Leukemogenesis
0.010 GeneticVariation BEFREE In contrast, p27 mutations that enhance its stability (p27(T187A)) or nuclear retention (p27(S10A)) attenuate leukemogenesis over wild-type p27, validating the tumor-suppressor function of nuclear p27 in CML. 25293778 2014
dbSNP: rs750814369
rs750814369
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE We found that the variant genotypes of p21 Ser31Arg and p27 C-79T were individually associated with a significantly increased risk of HCC, but no associations were observed for other variant genotypes. 23034899 2013
dbSNP: rs745594285
rs745594285
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C2676191
Disease:
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
0.010 GeneticVariation BEFREE In vitro, the K96Q change decreased p27 affinity for Grb2 but did not segregate with pituitary adenoma in the FIPA kindred. 22291433 2012
dbSNP: rs758434928
rs758434928
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE These results suggest that p27 T109G polymorphism individually or in combination with p21 (C98A and C70T) polymorphisms increases risk of SPM in patients with index SCCHN. 22449259 2012
dbSNP: rs758434928
rs758434928
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C2678061
Disease:
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 GeneticVariation BEFREE These results suggest that p27 T109G polymorphism individually or in combination with p21 (C98A and C70T) polymorphisms increases risk of SPM in patients with index SCCHN. 22449259 2012
dbSNP: rs777803098
rs777803098
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE G93A SOD1 alters cell cycle in a cellular model of Amyotrophic Lateral Sclerosis. 20561900 2010
dbSNP: rs1190999960
rs1190999960
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0282160
Disease:
Aplasia Cutis Congenita
0.010 GeneticVariation BEFREE In this study, we transfected nondegradable p27 mutant (T187A) and wild-type gene into A</span>CC cell line. 17431674 2007
dbSNP: rs1190999960
rs1190999960
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0175754
Disease:
Agenesis of corpus callosum
0.010 GeneticVariation BEFREE In this study, we transfected nondegradable p27 mutant (T187A) and wild-type gene into A</span>CC cell line. 17431674 2007
dbSNP: rs1190999960
rs1190999960
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Transduction of p27(T187A) in breast cancer cells with a doxycycline-regulated adenovirus led to greater inhibition of proliferation, more extensive apoptosis, with a markedly reduced protein levels of cyclin E and increased accumulation of cyclin D1, compared with wild-type p27. 15996662 2005
dbSNP: rs1190999960
rs1190999960
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Transduction of p27(T187A) in breast cancer cells with a doxycycline-regulated adenovirus led to greater inhibition of proliferation, more extensive apoptosis, with a markedly reduced protein levels of cyclin E and increased accumulation of cyclin D1, compared with wild-type p27. 15996662 2005
dbSNP: rs1290923018
rs1290923018
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0035335
Disease:
Retinoblastoma
0.010 GeneticVariation BEFREE Conversely, CLA reduced the expression of factors required for G1 to S-phase transition including cyclins D1 and E, and hyperphoshorylated retinoblastoma Rb protein. 14608092 2003
dbSNP: rs1290923018
rs1290923018
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE Vitamin D inhibits G1 to S progression in LNCaP prostate cancer cells through p27Kip1 stabilization and Cdk2 mislocalization to the cytoplasm. 12954644 2003
dbSNP: rs1290923018
rs1290923018
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE Vitamin D inhibits G1 to S progression in LNCaP prostate cancer cells through p27Kip1 stabilization and Cdk2 mislocalization to the cytoplasm. 12954644 2003
dbSNP: rs1290923018
rs1290923018
Entrez Id: 10534;23625;254100
Gene Symbol: ZNRD2;FAM89B;ZNRD2-AS1
ZNRD2;FAM89B;ZNRD2-AS1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Among many candidates for tumor suppressor genes, the main genetic events have been reported to center around the cyclin-dependent kinase inhibitors ((CDKIs) p15INK4A, p16INK4B, p18INK4C, p19INK4D, p21WAF1, p27KIP1, and p57KIP2), p53 and Rb genes; all of them play a major regulatory role during G1 to S transition in the cell cycle. 12040438 2002