HPT, hypoparathyroidism, 3258

N. diseases: 71; N. variants: 0
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 		0.040 GeneticVariation disease BEFREE Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. 28774260 2017
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.040 GeneticVariation disease BEFREE Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. 20052758 2010
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.040 GeneticVariation disease BEFREE Inactivation of the hyperparathyroidism-jaw tumour syndrome (HPT- JT) gene, HRPT2, was recently established as a genetic mechanism in the development of parathyroid tumours. 16728578 2006
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.040 Biomarker disease BEFREE Clonal analysis has shown that in renal hyperparathyroidism (2-HPT), parathyroid glands initially grow diffusely and polyclonally after which the foci of nodular hyperplasia are transformed to monoclonal neoplasia. 10048455 1999