Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1250394819
rs1250394819
Entrez Id: 51014;100302736;101927100
Gene Symbol: TMED7;TMED7-TICAM2;LOC101927100
TMED7;TMED7-TICAM2;LOC101927100
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: rs1250394819
rs1250394819
Entrez Id: 51014;100302736;101927100
Gene Symbol: TMED7;TMED7-TICAM2;LOC101927100
TMED7;TMED7-TICAM2;LOC101927100
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: rs1250394819
rs1250394819
Entrez Id: 51014;100302736;101927100
Gene Symbol: TMED7;TMED7-TICAM2;LOC101927100
TMED7;TMED7-TICAM2;LOC101927100
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: rs1250394819
rs1250394819
Entrez Id: 51014;100302736;101927100
Gene Symbol: TMED7;TMED7-TICAM2;LOC101927100
TMED7;TMED7-TICAM2;LOC101927100
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: rs1250394819
rs1250394819
Entrez Id: 51014;100302736;101927100
Gene Symbol: TMED7;TMED7-TICAM2;LOC101927100
TMED7;TMED7-TICAM2;LOC101927100
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: rs1250394819
rs1250394819
Entrez Id: 51014;100302736;101927100
Gene Symbol: TMED7;TMED7-TICAM2;LOC101927100
TMED7;TMED7-TICAM2;LOC101927100
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: rs1483790387
rs1483790387
Entrez Id: 51014;100302736
Gene Symbol: TMED7;TMED7-TICAM2
TMED7;TMED7-TICAM2
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: rs1483790387
rs1483790387
Entrez Id: 51014;100302736
Gene Symbol: TMED7;TMED7-TICAM2
TMED7;TMED7-TICAM2
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: rs776977530
rs776977530
Entrez Id: 51014;100302736
Gene Symbol: TMED7;TMED7-TICAM2
TMED7;TMED7-TICAM2
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: rs776977530
rs776977530
Entrez Id: 51014;100302736
Gene Symbol: TMED7;TMED7-TICAM2
TMED7;TMED7-TICAM2
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: rs1250394819
rs1250394819
Entrez Id: 51014;100302736;101927100
Gene Symbol: TMED7;TMED7-TICAM2;LOC101927100
TMED7;TMED7-TICAM2;LOC101927100
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: rs1250394819
rs1250394819
Entrez Id: 51014;100302736;101927100
Gene Symbol: TMED7;TMED7-TICAM2;LOC101927100
TMED7;TMED7-TICAM2;LOC101927100
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: rs1250394819
rs1250394819
Entrez Id: 51014;100302736;101927100
Gene Symbol: TMED7;TMED7-TICAM2;LOC101927100
TMED7;TMED7-TICAM2;LOC101927100
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: rs1250394819
rs1250394819
Entrez Id: 51014;100302736;101927100
Gene Symbol: TMED7;TMED7-TICAM2;LOC101927100
TMED7;TMED7-TICAM2;LOC101927100
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