rs79658334, RET

N. diseases: 29
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
0.880 CausalMutation CLINVAR
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
0.880 CausalMutation CLINVAR
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.800 GeneticVariation CLINVAR
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.740 GeneticVariation CLINVAR
Multiple Endocrine Neoplasia Type 2b
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
0.720 CausalMutation CLINVAR
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.710 CausalMutation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR
Multiple Endocrine Neoplasia
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
0.700 CausalMutation CLINVAR
Congenital central hypoventilation
CUI: C1275808
Disease: Congenital central hypoventilation
0.700 CausalMutation CLINVAR
RENAL ADYSPLASIA
CUI: C1619700
Disease: RENAL ADYSPLASIA
0.700 CausalMutation CLINVAR
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.720 CausalMutation CLINVAR "Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET proto-oncogene. ""Study Group Multiple Endocrine Neoplasia Austria (SMENA)""." 8797874 1996
Columnar Cell Hyperplasia of the Breast
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
0.020 GeneticVariation BEFREE CCH associated with V804M RET mutation is a precancerous condition and surgery is recommended. 18299477 2008
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
0.880 GeneticVariation BEFREE V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers. 12019403 2002
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.800 GeneticVariation BEFREE A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation. 23341727 2013
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma. 9452077 1998
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.720 CausalMutation CLINVAR A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma. 9452077 1998
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma. 9452077 1998
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization. 20039896 2010
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.720 CausalMutation CLINVAR A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization. 20039896 2010
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.740 GeneticVariation BEFREE A NOVEL DOUBLE MUTATION VAL648ILE AND VAL804LEU OF RET PROTO-ONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2. 26247112 2015
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.720 GeneticVariation BEFREE A NOVEL DOUBLE MUTATION VAL648ILE AND VAL804LEU OF RET PROTO-ONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2. 26247112 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A NOVEL DOUBLE MUTATION VAL648ILE AND VAL804LEU OF RET PROTO-ONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2. 26247112 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. 9398735 1997