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: 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: 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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 2
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: 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: 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: 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: 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: 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
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: 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: 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: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
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: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 1
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
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: 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: 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: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 1
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: 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
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 1