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: 55120
Gene Symbol: FANCL
FANCL
FA complementation group L 0.551 0.731 5.9E-23
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
prolyl 4-hydroxylase subunit beta 0.488 0.808 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
discoidin domain receptor tyrosine kinase 2 0.541 0.769 0.55
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
notch receptor 3 0.435 0.808 0.41
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
nuclear factor I X 0.547 0.769 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 4771
Gene Symbol: NF2
NF2
neurofibromin 2 0.468 0.885 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
MYD88 innate immune signal transduction adaptor 0.414 0.923 0.12
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
muscle associated receptor tyrosine kinase 0.570 0.769 4.2E-08
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 50937
Gene Symbol: CDON
CDON
cell adhesion associated, oncogene regulated 0.601 0.731 2.1E-15
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 50964
Gene Symbol: SOST
SOST
sclerostin 0.474 0.808 0.87
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 54928
Gene Symbol: IMPAD1
IMPAD1
inositol monophosphatase domain containing 1 0.700 0.385 1.5E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 54820
Gene Symbol: NDE1
NDE1
nudE neurodevelopment protein 1 0.608 0.462 6.7E-03
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5447
Gene Symbol: POR
POR
cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
DNA polymerase delta 1, catalytic subunit 0.507 0.769 2.4E-06
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 53834
Gene Symbol: FGFRL1
FGFRL1
fibroblast growth factor receptor like 1 0.588 0.615 1.2E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
peptidase D 0.621 0.769 1.5E-14
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
platelet derived growth factor subunit B 0.488 0.846 0.77
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
ataxin 3 0.521 0.808 0.11
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0