Source: ALL

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: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0033377
Disease: Ptosis
Ptosis
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: C0033377
Disease: Ptosis
Ptosis
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: C0033377
Disease: Ptosis
Ptosis
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: C0033377
Disease: Ptosis
Ptosis
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: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
solute carrier family 18 member A2 0.554 0.769 7.6E-02
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 64359
Gene Symbol: NXN
NXN
nucleoredoxin 0.584 0.577 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1
succinate dehydrogenase complex assembly factor 1 0.656 0.462 8.7E-02
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14
myotubularin related protein 14 0.674 0.615 1.4E-07
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
ARV1 homolog, fatty acid homeostasis modulator 0.691 0.423 3.6E-06
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
transmembrane protein 237 0.612 0.538 1.9E-12
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
solute carrier family 3 member 1 0.593 0.731 7.2E-27
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
solute carrier family 6 member 9 0.641 0.500 2.2E-05
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0