Source: HPO

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: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
dynamin 2 0.542 0.769 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
endothelin 1 0.380 0.846 0.46
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 10736
Gene Symbol: SIX2
SIX2
SIX homeobox 2 0.604 0.654 0.94
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
tubulin beta 3 class III 0.486 0.808 2.6E-10
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 5980
Gene Symbol: REV3L
REV3L
REV3 like, DNA directed polymerase zeta catalytic subunit 0.588 0.654 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
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: 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: 57688
Gene Symbol: ZSWIM6
ZSWIM6
zinc finger SWIM-type containing 6 0.626 0.577 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
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: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
double PHD fingers 2 0.604 0.731 1.00
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: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5908
Gene Symbol: RAP1B
RAP1B
RAP1B, member of RAS oncogene family 0.565 0.769 0.91
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: 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: 5913
Gene Symbol: RAPSN
RAPSN
receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5906
Gene Symbol: RAP1A
RAP1A
RAP1A, member of RAS oncogene family 0.502 0.808 0.62
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5922
Gene Symbol: RASA2
RASA2
RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0