Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parathyroid Adenoma
CUI: C0262587
Disease: Parathyroid Adenoma
0.030 GeneticVariation BEFREE The S37A mutation was reported to occur in 7.3 % in a single study of parathyroid adenomas, while in other studies no stabilizing mutations of β-catenin exon 3 were identified. 22576020 2013
Parathyroid Adenoma
CUI: C0262587
Disease: Parathyroid Adenoma
0.030 GeneticVariation BEFREE The mutation S37A (TCT > GCT) was detected by direct DNA sequencing of PCR fragments in 6 out of 104 sporadic parathyroid adenomas (5.8%). 18541010 2008
Parathyroid Adenoma
CUI: C0262587
Disease: Parathyroid Adenoma
0.030 GeneticVariation BEFREE The absence of stabilizing mutations of beta-catenin, including the previously reported S37A, encoded in CTNNB1 exon 3 among 97 tumors suggests that such mutations contribute rarely if at all to the development of sporadic parathyroid adenomas. 17284619 2007