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: 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: 3508
Gene Symbol: IGHMBP2
IGHMBP2 		immunoglobulin mu DNA binding protein 2 0.636 0.615 3.0E-16
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.130 None 1.000 0 1 2013 2014
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		cholinergic receptor nicotinic delta subunit 0.641 0.462 5.4E-09
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 2
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: 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: 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: 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
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		glutamine rich 1 0.716 0.423 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 57479
Gene Symbol: PRR12
PRR12 		proline rich 12 0.716 0.385 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1