Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.403 0.759 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 1.000 definitive 0.987 6 0 1990 2018
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.463 0.690 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 1.000 definitive 0.985 6 0 1994 2018