Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 85 0.292 0.923 1.00 0.100 None 1.000 1 1 2019 2019
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		SCN1A and SCN9A antisense RNA 1 50 0.636 0.346 0.100 None 0 1
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.100 None 0 1
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		Q9H334 forkhead box P1 21 0.460 0.808 1.00 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 116 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 39 0.477 0.808 1.00 0.100 None 0 1