TRIM13, tripartite motif containing 13, 10206

N. diseases: 275; N. variants: 1
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.010 Biomarker disease BEFREE Inactivating mutations of the parathyroid cell calcium receptor (CaR) gene cause one form of familial benign/hypocalciuric hypercalcemia, and in homozygous form, cause neonatal severe primary hyperparathyroidism with parathyroid hyperplasia. 7593455 1995