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: 51091
Gene Symbol: SEPSECS
SEPSECS 		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.656 0.423 1.6E-08
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 2
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 1.000 5 4 2007 2011
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7 		TNF receptor associated factor 7 0.623 0.423 2.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		transcription factor 20 0.644 0.423 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.120 None 1.000 0 1 1997 2006
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 2
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		UTP23 small subunit processome component 0.711 0.385 8.6E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462 		zinc finger protein 462 0.711 0.462 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.400 strong 1.000 0 1 2003 2003