Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 CausalMutation disease CLINVAR
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 Biomarker disease CTD_human
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 GeneticVariation disease BEFREE Cyclin-dependent kinase inhibitor 1B (CDKN1B) pathogenic variants lead to multiple endocrine neoplasia type 4 (MEN4) syndrome, in which pituitary adenomas can occur. 31658440 2019
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 Biomarker disease CLINGEN A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization. 20824794 2010
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 Biomarker disease CLINGEN A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype. 23555276 2013
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 GeneticVariation disease BEFREE A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype. 23555276 2013
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 GeneticVariation disease BEFREE As the CDKN1B (p27) gene causes MEN4 syndrome and it is transcriptionally regulated by the product of the MEN1 gene (menin), we sought to analyze whether p27 influences the phenotype of MEN1-mutated patients. 24920291 2014
Entrez Id: 5979
Gene Symbol: RET
RET
0.100 GeneticVariation disease CLINVAR Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. 10445857 1999
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 Biomarker disease GENOMICS_ENGLAND Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop. 25162666 2014
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 Biomarker disease CLINGEN Eight mutations of CDKN1B in MEN4 patients have been published so far. 24819502 2014
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 GeneticVariation disease BEFREE Eight mutations of CDKN1B in MEN4 patients have been published so far. 24819502 2014
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.010 Biomarker disease BEFREE Gastrointestinal neuroendocrine tumors appear to be less prevalent in MEN4 than in MEN1. 30990521 2019
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 Biomarker disease CLINGEN Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. 17030811 2006
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 Biomarker disease CLINGEN Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. 17519308 2007
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.010 GeneticVariation disease BEFREE Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene and the p27(KIP1) encoding gene CDKN1B have been associated with two well-defined hereditary conditions, familial isolated pituitary adenoma (FIPA) and multiple endocrine neoplasia type 4 (MEN4). 20530095 2010
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.790 GeneticVariation disease BEFREE Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene and the p27(KIP1) encoding gene CDKN1B have been associated with two well-defined hereditary conditions, familial isolated pituitary adenoma (FIPA) and multiple endocrine neoplasia type 4 (MEN4). 20530095 2010
Entrez Id: 10519
Gene Symbol: CIB1
CIB1
0.010 GeneticVariation disease BEFREE Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene and the p27(KIP1) encoding gene CDKN1B have been associated with two well-defined hereditary conditions, familial isolated pituitary adenoma (FIPA) and multiple endocrine neoplasia type 4 (MEN4). 20530095 2010
Entrez Id: 115482696
Gene Symbol: H3P23
H3P23
0.020 Biomarker disease BEFREE Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how they are affected by MENX/4-associated mutations. 22584700 2012
Entrez Id: 100302736
Gene Symbol: TMED7-TICAM2
TMED7-TICAM2
0.020 Biomarker disease BEFREE Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how they are affected by MENX/4-associated mutations. 22584700 2012
Entrez Id: 51014
Gene Symbol: TMED7
TMED7
0.020 Biomarker disease BEFREE Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how they are affected by MENX/4-associated mutations. 22584700 2012
Entrez Id: 5715
Gene Symbol: PSMD9
PSMD9
0.020 Biomarker disease BEFREE Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how they are affected by MENX/4-associated mutations. 22584700 2012
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
0.020 Biomarker disease BEFREE Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how they are affected by MENX/4-associated mutations. 22584700 2012
Entrez Id: 3429
Gene Symbol: IFI27
IFI27
0.020 Biomarker disease BEFREE Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how they are affected by MENX/4-associated mutations. 22584700 2012
Entrez Id: 353376
Gene Symbol: TICAM2
TICAM2
0.020 Biomarker disease BEFREE Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how they are affected by MENX/4-associated mutations. 22584700 2012
Entrez Id: 10534
Gene Symbol: ZNRD2
ZNRD2
0.020 Biomarker disease BEFREE Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how they are affected by MENX/4-associated mutations. 22584700 2012