Tuberous sclerosis

Disease Term Disease ID Gene Symbol Classification References Source
Tuberous Sclerosis C0041341 TSC1 Causal Pathogenic evidence from ClinVar 9242607, 9863590, 10227394, 10349994, 11170177, 15888477, 17304050, 18345974, 21062901, 21345208, 27425891 ClinVar
TSC2 Causal Pathogenic evidence from ClinVar 7546221, 7972075, 8944308, 9108092, 9302281, 9463313, 9829910, 10732801, 11112665, 11403047, 11520734, 12015165, 12111193, 15798777, 16114042, 16237225, 16981987, 17120248, 17304050, 18302728, 18345974, 18854862, 19259131, 20165957, 20530489, 21062901, 21309039, 21332470, 21345208, 22867869, 23389244, 24271014, 25432535, 25525159, 25927202, 27406250, 27493206, 28065512, 30763456 ClinVar
IFNG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16845661 -
TUBEROUS SCLEROSIS 1 (disorder) C1854465 TSC1 Causal Pathogenic evidence from ClinVar 9242607, 9328481, 9863590, 10069705, 10227394, 10349994, 10533069, 10570911, 10874311, 11170177, 11829138, 12112044, 15331184, 15888477, 17304050, 18830229, 22161988, 23788249, 27425891 ClinVar
TSC2 Causal Pathogenic evidence from ClinVar 7546221, 7972075, 8944308, 9108092, 9302281, 27493206 ClinVar
Tuberous sclerosis complex 805 TSC1 Causal Pathogenic evidence from ClinVar - ClinVar
TSC2 Causal Pathogenic evidence from ClinVar - ClinVar
TUBEROUS SCLEROSIS 2 (disorder) C1860707 TSC2 Causal Pathogenic evidence from ClinVar 8824881, 9302281, 9328481, 9412784, 9463313, 9829910, 9881533, 10069705, 10090883, 10205261, 10215407, 10330349, 10533066, 10533067, 10570911, 10607950, 10732801, 10735580, 10823953, 10942116, 11068191, 11112665, 11208653, 11403047, 11520734, 11741832, 12015165, 12111193, 12136241, 12271141, 12906785, 14641237, 14718525, 15024740, 15121797, 15340059, 15483652, 15595939, 15798777, 15874888, 15963462, 16114042, 16237225, 16464865, 16554133, 16835931, 16981987, 17120248, 17304050, 17536269, 18302728, 18308511, 18411301, 18550814, 18772611, 18792920, 18854862, 19259131, 20165957, 20399389, 20498439, 20633017, 21309039, 21332470, 21510812, 21520333, 21567926, 21811971, 21910228, 22490766, 22552000, 22748302, 22805177, 22867869, 22903760, 23389244, 23788249, 23955302, 24271014, 24789117, 25039834, 25281918, 25432535, 25498131, 25599672, 25782670, 25900779, 25927202, 26104489, 26540169, 26703369, 27078846, 27174333, 27859028, 28065512, 28087349, 28127866, 28149746, 28968464, 29056246, 29196670, 29926239 ClinVar
IFNG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -