Source: ALL
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: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		P31749 AKT serine/threonine kinase 1 Kinase 1250 0.311 0.962 0.98 0.100 None 0 0
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 158 0.570 0.692 2.6E-11 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		P38606 ATPase H+ transporting V1 subunit A Transporter 147 0.579 0.615 0.87 0.100 None 0 0
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1 		P36543 ATPase H+ transporting V1 subunit E1 Transporter 105 0.610 0.769 0.53 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		P01137 transforming growth factor beta 1 Signaling 1558 0.287 0.962 3.7E-02 0.100 None 0 0
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 2