Source: CLINVAR

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: 6909
Gene Symbol: TBX2
TBX2 		T-box transcription factor 2 0.544 0.769 0.99
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		disease 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6 		THO complex 6 0.705 0.577 4.8E-04
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		disease 0.100 None 0 2