rs75076352, RET

N. diseases: 24
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parathyroid Diseases
CUI: C0030517
Disease: Parathyroid Diseases
0.040 GeneticVariation BEFREE These data show a low frequency of hyperparathyroidism in our cases and provide further evidence that individuals with C634R as well as with C634Y mutations of the RET proto-oncogene could be at risk for parathyroid disease. 9820617 1998
Parathyroid Diseases
CUI: C0030517
Disease: Parathyroid Diseases
0.040 GeneticVariation BEFREE The frequency of mutations at codon 634 was higher in patients with MEN 2A than with FMTC and a 634 Cys-->Arg mutation was associated with parathyroid disease in three patients. 8625130 1995
Parathyroid Diseases
CUI: C0030517
Disease: Parathyroid Diseases
0.040 GeneticVariation BEFREE Furthermore, our results are in accordance with the observation that MEN 2A patients with Cys 634-->Arg (germline) mutations have a higher risk of developing parathyroid disease than those with other mutations at codon 634. 7495285 1995
Parathyroid Diseases
CUI: C0030517
Disease: Parathyroid Diseases
0.040 GeneticVariation BEFREE MEN 2A patients with a Cys634 to Arg substitution had a greater risk of developing parathyroid disease than those with other codon 634 mutations. 7907913 1994