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: 7253
Gene Symbol: TSHR
TSHR
thyroid stimulating hormone receptor 0.486 0.808 3.0E-15
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.130 None 1.000 0 0 2014 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.120 None 1.000 0 0 1995 2010
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
FAM20C golgi associated secretory pathway kinase 0.578 0.731 0.31
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5657
Gene Symbol: PRTN3
PRTN3
proteinase 3 0.503 0.808 3.8E-05
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
kelch like family member 7 0.581 0.731 4.6E-05
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 55697
Gene Symbol: VAC14
VAC14
VAC14 component of PIKFYVE complex 0.588 0.731 0.19
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
FA complementation group I 0.543 0.731 8.9E-37
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
ring finger and WD repeat domain 3 0.569 0.731 3.5E-10
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
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: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 633
Gene Symbol: BGN
BGN
biglycan 0.484 0.808 0.45
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 6237
Gene Symbol: RRAS
RRAS
RAS related 0.543 0.808 4.7E-03
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
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: C0015300
Disease: Exophthalmos
Exophthalmos
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: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 58484
Gene Symbol: NLRC4
NLRC4
NLR family CARD domain containing 4 0.556 0.769 9.9E-12
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 63916
Gene Symbol: ELMO2
ELMO2
engulfment and cell motility 2 0.729 0.538 1.0E-05
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
protein phosphatase 2 catalytic subunit alpha 0.608 0.769 0.99
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0