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: 1947
Gene Symbol: EFNB1
EFNB1
ephrin B1 0.561 0.769 0.93
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.400 None 1.000 0 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 1.000 4 13 2001 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 1.000 2 4 2006 2006
Entrez Id: 8925
Gene Symbol: HERC1
HERC1
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 0.674 0.500 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
transmembrane protein 87B 0.861 0.115 3.7E-13
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 5922
Gene Symbol: RASA2
RASA2
RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
lysine methyltransferase 2C 0.558 0.692 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
double PHD fingers 2 0.604 0.731 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0