TRIM13, tripartite motif containing 13, 10206

N. diseases: 275; N. variants: 1
Disease: Hyperparathyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		0.010 GeneticVariation disease BEFREE Here, we investigate a unique variant of familial hypercalcemia, unrelated to multiple endocrine neoplasia and hyperparathyroidism-jaw tumor syndromes, with hypercalcemia due to a point mutation in the intracellular part of the calcium receptor (CaR) gene. 12161540 2002