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: 23389
Gene Symbol: MED13L
MED13L 		mediator complex subunit 13L 0.617 0.538 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
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: 29123
Gene Symbol: ANKRD11
ANKRD11 		ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
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: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 2
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 2
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: 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: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
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