CDKN1B, cyclin dependent kinase inhibitor 1B, 1027

N. diseases: 454; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease LHGDN [The significance of cyclin E expression and cyclin E-dependent kinase inhibitor in adult acute leukemia]. 12133429 2002
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 AlteredExpression phenotype LHGDN [Relationship between p27 expression and prognosis of colorectal carcinoma]. 12508646 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.050 AlteredExpression group LHGDN [Relationship between p27 expression and prognosis of colorectal carcinoma]. 12508646 2002
CUI: C0017662
Disease: Glomerulonephritis, Membranoproliferative
Glomerulonephritis, Membranoproliferative 		0.200 Biomarker disease RGD [Protective effects of 15-methyl-lipoxin A4 on mesangioproliferative nephritis in rats]. 16787597 2006
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.200 Biomarker phenotype RGD [Expression of p27 in renal interstital fibrosis in rats induced by unilateral ureteral obstruction]. 16137007 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 AlteredExpression disease LHGDN [Expression and significance of Ser10 phosphorylated p27(kip1) and JAB1 protein in human hepatocellular carcinoma]. 18346358 2007
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.040 Biomarker disease BEFREE ZD1839 (IRESSA) stabilizes p27Kip1 and enhances radiosensitivity in cholangiocarcinoma cell lines. 19414361 2009
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.060 GeneticVariation disease BEFREE XRCC1 T-77C polymorphism affects the genetic susceptibility for PTC development in men, the specific combination of XRCC1 haplotypes correlates with RET/PTC incidence, CDKN1B Val109Gly significantly influences the risk of developing PTC regardless of gender and in PTC cases, selected genotypes of TP53 Arg72Pro and ATM Asp1853Asn were significantly associated with monitored tumour characteristics. 27314298 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE With Cox multivariate analysis loss of p27((Kip1)) expression (hazard ratio 9.3, P = 0.002) and tumor size (hazard ratio 5.9, P = 0.015) were the predictors of cancer-specific survival. 17310312 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 GeneticVariation phenotype BEFREE Whole-genome and -exome sequencing has demonstrated that SINETs are mutationally quiet, with the most frequent known mutation in the cyclin-dependent kinase inhibitor 1B gene (CDKN1B) occurring in only ∼8% of tumors, suggesting that alternative mechanisms may drive tumorigenesis. 26169971 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Whole-genome and -exome sequencing has demonstrated that SINETs are mutationally quiet, with the most frequent known mutation in the cyclin-dependent kinase inhibitor 1B gene (CDKN1B) occurring in only ∼8% of tumors, suggesting that alternative mechanisms may drive tumorigenesis. 26169971 2016
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.300 Biomarker group CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		0.300 Biomarker disease CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.300 Biomarker disease CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.300 Biomarker disease CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.300 Biomarker disease CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE While the majority of CLL displayed strong p27 immunoreactivity, RS tumors were constantly p27-negative. p27(Kip1) gene was in germline configuration in all the tumors analyzed. 12040434 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE While the tumor suppressor function is mediated by p27(KIP1)s inhibitory interactions with the cyclin/CDK complexes, its oncogenic function is cyclin/CDK independent, and in many cases correlates with cytoplasmic localization. 19887899 2009
CUI: C0271846
Disease: Familial hyperparathyroidism
Familial hyperparathyroidism 		0.010 Biomarker disease BEFREE While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism. 26163537 2015
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		0.020 Biomarker disease BEFREE While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism. 26163537 2015
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.030 Biomarker disease BEFREE While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism. 26163537 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 AlteredExpression disease BEFREE While in vitro, following release of breast cancer cell lines from serum starvation, the expression of Jab1, phosphor-Akt (p-Akt) was up-regulated, whereas BRSK1 and p27(Kip1) were decreased. 25036402 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.600 AlteredExpression disease BEFREE While in vitro, following release of breast cancer cell lines from serum starvation, the expression of Jab1, phosphor-Akt (p-Akt) was up-regulated, whereas BRSK1 and p27(Kip1) were decreased. 25036402 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 AlteredExpression disease BEFREE While in vitro, following release of breast cancer cell lines from serum starvation, the expression of Emi1, Skp2, phosphor-Akt (p-Akt) was up-regulated, whereas p27(Kip1) was down-regulated. 24277465 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.200 Biomarker disease BEFREE While immunohistochemical analysis has implicated p27/kip1 in prostate carcinoma, no previous studies had identified genetic abnormalities at this locus. 10840458 2000