Source: INFERRED

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: 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
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: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.543 0.731 2.4E-15
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
zinc finger SWIM-type containing 6 0.626 0.577 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
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: 55714
Gene Symbol: TENM3
TENM3
teneurin transmembrane protein 3 0.599 0.692 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
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: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
WD repeat domain 11 0.524 0.808 1.4E-08
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B
transmembrane protein 126B 0.716 0.385 1.9E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2
zinc finger C4H2-type containing 0.561 0.731 0.91
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0