CDKN1B, cyclin dependent kinase inhibitor 1B, 1027

N. diseases: 454; N. variants: 20
Disease: Familial hyperparathyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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