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: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.400 None 1.000 0 1 1997 1997
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1 		EMC1 antisense RNA 1 15 0.792 0.385 0.100 None 1.000 2 1 2016 2017
Entrez Id: 23065
Gene Symbol: EMC1
EMC1 		Q8N766 ER membrane protein complex subunit 1 15 0.700 0.462 6.7E-26 0.100 None 1.000 2 1 2016 2017
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		Q13426 X-ray repair cross complementing 4 6 0.528 0.769 8.3E-07 0.100 None 1.000 1 1 2014 2014
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		Q05193 dynamin 1 Enzyme modulator 11 0.595 0.692 1.00 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		O14773 tripeptidyl peptidase 1 Enzyme 27 0.551 0.808 6.3E-07 0.100 None 0 1
Entrez Id: 5528
Gene Symbol: PPP2R5D
PPP2R5D 		Q14738 protein phosphatase 2 regulatory subunit B'delta Enzyme 7 0.722 0.462 1.00 0.100 None 0 1
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: 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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 34 0.388 0.808 0.99 0.100 None 0 1
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		Q9ULV3 CDKN1A interacting zinc finger protein 1 11 0.617 0.500 6.3E-02 0.100 None 0 1