Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74799832
rs74799832
RET
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		C 0.740 CausalMutation CLINVAR

dbSNP: rs74799832
rs74799832
RET
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR

dbSNP: rs74799832
rs74799832
RET
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		C 0.700 CausalMutation CLINVAR

dbSNP: rs74799832
rs74799832
RET
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		C 0.700 CausalMutation CLINVAR

dbSNP: rs74799832
rs74799832
RET
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		C 0.700 CausalMutation CLINVAR

dbSNP: rs74799832
rs74799832
RET
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		C 0.700 CausalMutation CLINVAR

dbSNP: rs74799832
rs74799832
RET
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		C 0.700 CausalMutation CLINVAR

dbSNP: rs74799832
rs74799832
RET
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		C 0.700 CausalMutation CLINVAR

dbSNP: rs74799832
rs74799832
RET
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		C 0.700 CausalMutation CLINVAR

dbSNP: rs74799832
rs74799832
RET
CUI: C0009806
Disease: Constipation
Constipation 		C 0.700 CausalMutation CLINVAR

dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. 7906866

1994
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. 7906417

1994
dbSNP: rs74799832
rs74799832
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. 7906417

1994
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. 7824936

1995
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995
dbSNP: rs74799832
rs74799832
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		C 0.720 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995
dbSNP: rs74799832
rs74799832
RET
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
Multiple Endocrine Neoplasia, Type IV 		C 0.700 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995
dbSNP: rs74799832
rs74799832
RET
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		C 0.700 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995
dbSNP: rs74799832
rs74799832
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). 8880581

1996
dbSNP: rs74799832
rs74799832
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		C 0.720 CausalMutation CLINVAR The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 8918855

1996
dbSNP: rs74799832
rs74799832
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 8918855

1996
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997
dbSNP: rs74799832
rs74799832
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		C 0.720 CausalMutation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997
dbSNP: rs74799832
rs74799832
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997