Multiple endocrine neoplasia

Disease Term Disease ID Gene Symbol Classification References Source
Multiple Endocrine Neoplasia C0027662 CDKN1B Causal Pathogenic evidence from ClinVar - ClinVar
MEN1 Causal Pathogenic evidence from ClinVar 23788249 ClinVar
RET Causal Pathogenic evidence from ClinVar 17664273, 23788249 ClinVar
Multiple endocrine neoplasia type 1 652 CDKN1B Causal Pathogenic evidence from ClinVar - ClinVar
MEN1 Causal Pathogenic evidence from ClinVar - ClinVar
CDKN1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDKN2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDKN2C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Multiple Endocrine Neoplasia Type 1 C0025267 CDKN1B Causal Pathogenic evidence from ClinVar 22026581, 25824098 ClinVar
MEN1 Causal Pathogenic evidence from ClinVar 9103196, 9215689, 9215690, 9463336, 9506756, 9671267, 9683585, 9709921, 9709976, 9709985, 9740255, 9747036, 9820618, 9832038, 9888389, 9989505, 10090472, 10229909, 10534569, 10576763, 10617276, 10660339, 10664520, 10849016, 10993647, 11102994, 11134142, 11241849, 12050235, 12112656, 12417605, 12652570, 12699448, 12746426, 12791038, 14686752, 14992727, 15714081, 15730416, 17555499, 19847644, 22327296, 23788249, 25162666 ClinVar
RET Causal Pathogenic evidence from ClinVar 8570194, 9012462, 9242375, 10445857, 10490816, 15753368 ClinVar
CDKN1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19141585 -
CDKN2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19141585 -
CDKN2C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19141585 -
Multiple endocrine neoplasia type 4 276152, C4274947 CDKN1B Causal Pathogenic evidence from ClinVar 8646779, 17030811, 17519308, 18354415, 19141585, 20824794, 22129891, 23555276, 24819502 ClinVar
Multiple Endocrine Neoplasia, Type IV C1970712 CDKN1B Causal Pathogenic evidence from ClinVar 8646779, 17030811, 17519308, 18354415, 19141585, 20824794, 22129891, 23555276, 24819502, 25162666, 25416039 ClinVar
RET Causal Pathogenic evidence from ClinVar 8570194, 9012462, 9242375, 10445857, 10490816, 15753368 ClinVar
Multiple endocrine neoplasia Type 2 C4048306 RET Causal Pathogenic evidence from ClinVar 2008030, 7491519, 7595167, 7595171, 7608256, 7633441, 7670926, 7716719, 7784092, 7824936, 7835899, 7845675, 7849720, 7874109, 7881414, 7906417, 7907913, 7914213, 7915165, 7915822, 7916559, 8099202, 8103403, 8570194, 8612479, 8625130, 8626834, 8640806, 8675603, 8765374, 8797874, 8807338, 8849576, 8855832, 8909322, 8918855, 9003111, 9012462, 9068588, 9075701, 9090527, 9111992, 9111993, 9174404, 9223675, 9230192, 9242375, 9259198, 9384613, 9398735, 9452077, 9490783, 9498388, 9506724, 9677065, 9681851, 9681852, 9699127, 9745455, 9820617, 9839497, 9879991, 9950371, 10024437, 10235148, 10445857, 10462620, 10549772, 10790203, 10876191, 10951350, 10982477, 11073534, 11114642, 11230481, 11238493, 11331212, 11502806, 11524247, 11694544, 11732489, 11900218, 11932300, 11935126, 11939755, 11987030, 12000816, 12016484, 12019403, 12116277, 12150334, 12193298, 12409662, 12490841, 12604374, 12686527, 12711285, 12734540, 12788868, 12864791, 14517954, 14561794, 14602786, 14715928, 14718397, 14739494, 15164440, 15184865, 1524064 ClinVar
Multiple endocrine neoplasia type 2A 247698 RET Causal Pathogenic evidence from ClinVar - ClinVar
Multiple Endocrine Neoplasia Type 2a C0025268 RET Causal Pathogenic evidence from ClinVar 7608256, 7824936, 7860065, 7874109, 7881414, 7907913, 7915165, 8099202, 8103403, 8557249, 8570194, 8626834, 8807338, 8855832, 8909322, 8918855, 9012462, 9097963, 9146685, 9230192, 9242375, 9384613, 9398735, 9452064, 9452077, 9498388, 9506724, 9824583, 9950371, 10049754, 10445857, 10490816, 10522989, 10679286, 10826520, 10918602, 11230481, 11524247, 11739416, 11932300, 11939755, 12000816, 12016484, 12037758, 12050290, 12116277, 12746565, 12864791, 14718397, 15184865, 15326638, 15386323, 15452453, 15753368, 15858153, 16099853, 16314641, 16343103, 16715139, 16813623, 16839264, 17209045, 18062802, 18063059, 18976013, 19443294, 19469690, 19475497, 19826964, 20039896, 20103606, 20554711, 20664475, 20833330, 20979234, 21690267, 21711375, 21765987, 21810974, 21934104, 22068382, 22274720, 23295303, 23756355, 24134185, 24331334, 24449023, 24845513, 25162666, 25440022, 25628771, 25810047, 26269449, 26356818, 26687385, 26732158, 26765577, 27673361, 27798940, 28946813, 29408964 ClinVar
Multiple endocrine neoplasia type 2B 247709 RET Causal Pathogenic evidence from ClinVar - ClinVar
Multiple Endocrine Neoplasia Type 2b C0025269 RET Causal Pathogenic evidence from ClinVar 7824936, 7874109, 7906417, 7906866, 7911697, 7915165, 8570194, 8595427, 8807338, 8880581, 8909322, 9012462, 9242375, 9294615, 9360560, 10445857, 10490816, 10679286, 11230481, 12016484, 12116277, 15281979, 15753368, 17848262, 18976013, 19240193, 19443294, 19826964, 20664475, 20833330, 20979234, 21186952, 21934104, 22992277, 23788249, 25162666, 28323957 ClinVar