CDKN1B, cyclin dependent kinase inhibitor 1B, 1027

N. diseases: 454; N. variants: 20
Disease: Hyperparathyroidism-Jaw Tumor Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.030 GeneticVariation disease BEFREE Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic <i>MEN1</i> variants (11q13), MEN2A and MEN2B are due to pathogenic <i>RET</i> variants (10q11.21), MEN4 is due to pathogenic <i>CDKN1B</i> variants (12p13.1), and the HPT-JT syndrome is due to pathogenic <i>CDC73</i> variants (1q25). 28674121 2017
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.030 Biomarker disease BEFREE Syndromic PHPT includes multiple endocrine neoplasia (MEN) types 1 to 4 (MEN1 to MEN4) and the hyperparathyroidism-jaw tumour (HPT-JT) syndrome. 27306766 2016
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