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: 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: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 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: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.110 None 1.000 4 4 2002 2016
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: 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: 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: 6016
Gene Symbol: RIT1
RIT1 		Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.110 None 1.000 0 2 2016 2016
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 1.000 1 1 2017 2017
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: 5885
Gene Symbol: RAD21
RAD21 		RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 1.000 1 1 2019 2019