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: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system
0.100 Biomarker disease HPO
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma
0.010 AlteredExpression disease LHGDN Aggressive vestibular schwannomas showing postoperative rapid growth - their association with decreased p27 expression. 16283443 2005
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.030 GeneticVariation disease BEFREE Early onset acromegaly associated with a novel deletion in CDKN1B 5'UTR region. 25645465 2015
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.030 GeneticVariation disease BEFREE To date, the number of molecular genetic factors unequivocally linked to pituitary tumours can be counted on the fingers of one hand: (1) GNAS1 activation in acromegaly; (2) the MENIN and p27Kip1 (CDKN1B) mutations associated with multiple endocrine neoplasia type 1; (3) mutations of PRKA1RA with loss of 17q22-24 in Carney complex, and (4) aryl hydrocarbon receptor interacting protein gene mutations in 15% of familial isolated pituitary adenomas and 50% of familial isolated acromegaly. 21778740 2011
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.030 Biomarker disease BEFREE The relatively high age at diagnosis, as well as its sporadic presentation, suggests that these patients are carriers of mutations with reduced pathogenicity. p27(KIP1) is unlikely to represent the common unifying nonendocrine etiology for acromegaly and cancer. 20530095 2010
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
ACTH-Secreting Pituitary Adenoma
0.100 Biomarker disease HPO
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
0.200 Biomarker disease RGD Role of caspases on cell death, inflammation, and cell cycle in glycerol-induced acute renal failure. 16557226 2006
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.040 Biomarker disease BEFREE No mutations in either TEL or KIP1 were found; this suggest that neither TEL nor KIP1 is the critical 12p tumor suppressor gene in childhood ALL. 8640833 1996
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.040 GeneticVariation disease BEFREE Thus, the present study documents the loss of both ETV6 and CDKN1B genes accompanying the occurrence of a complex rearrangement involving chromosomes 3 and 12 in a case of childhood ALL. 19963112 2009
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.040 GeneticVariation disease BEFREE Acute lymphoblastic leukemia of childhood: identification of two distinct regions of deletion on the short arm of chromosome 12 in the region of TEL and KIP1. 8605354 1996
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.040 GeneticVariation disease BEFREE Its recent assignment to the chromosomal region (12p12.3) prompted us to study the p27KIP1 gene in a series of 61 children with ALL. 7579355 1995
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.030 Biomarker disease BEFREE In this study, the expression of these markers and of EVI1 and CDKN1B was determined using oligonucleotide microarrays in 286 AML comprising all cytogenetic groups. 22072540 2012
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.030 AlteredExpression disease BEFREE ETV6 and CDKN1B had reduced expression levels in CK-AML patients with deletion in 12p13 as compared to CK-AML without deletion in 12p13, while the other genes (BCL2L14, LRP6, DUSP16 and GPRC5D) located within the minimal deleted region in 12p13 had very low or missing expression in CK-AML irrespective of their copy number status. 25213837 2014
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.030 PosttranslationalModification disease BEFREE Absence of p21(CIP 1), p27(KIP 1) and p 57(KIP 2) methylation in MDS and AML. 15936816 2005
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.020 AlteredExpression disease BEFREE Overexpression of p21Cip1 or p27Kip1 in the promyelocytic leukemia cell line HL60 accelerates its lineage-specific differentiation. 10697493 2000
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.020 Biomarker disease BEFREE Taken together, these results suggest a sequential molecular mechanism from MYC reduction, SKP2 reduction, Cdkn1b protein stabilization, G1 phase arrest to granulocytic differentiation by KRGE in human APL. 24095829 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group LHGDN Loss of p27 expression is associated with poor prognosis in stage I-II pancreatic cancer. 14707458 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE In contrast, Cks1 mRNA expression had no such relationship with p27(Kip1), although Cks1 mRNA was significantly elevated in adenocarcinomas. 12670508 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE Therefore, in a series of gastric adenocarcinomas we studied the association of p27(KIP1) expression with H. pylori genotype (vacA, cagA, cagE and virB11) and the involvement of C-MYC in this process. 20059402 2010
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE Therefore, we studied the expression of p16MTS1, p21WAF1, and p27KIP1 by immunohistochemistry in 60 cervical adenocarcinomas. 11499840 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group LHGDN Frequent loss of expression of the cyclin-dependent kinase inhibitor p27(Kip1) in estrogen-related Endometrial adenocarcinomas. 14614018 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE Furthermore, retention of CDK4 in these TA-like pituitary cells synergizes with loss of p27(Kip1) to induce pituitary adenocarcinomas. 18172308 2008
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group LHGDN Prognostic significance of p27(kip-1) expression in colorectal adenocarcinomas is associated with tumor stage. 15014027 2004
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE Prognostic significance of p27(kip-1) expression in colorectal adenocarcinomas is associated with tumor stage. 15014027 2004
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group LHGDN Paradoxical expression of cell cycle inhibitor p27 in endometrioid adenocarcinoma of the uterine corpus - correlation with proliferation and clinicopathological parameters. 12085261 2002