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: 144568
Gene Symbol: A2ML1
A2ML1
alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
AF4/FMR2 family member 4 0.644 0.769 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 79796
Gene Symbol: ALG9
ALG9
ALG9 alpha-1,2-mannosyltransferase 0.644 0.654 6.4E-04
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
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: 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: 26053
Gene Symbol: AUTS2
AUTS2
activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
beta-1,4-galactosyltransferase 7 0.628 0.654 1.1E-04
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 8815
Gene Symbol: BANF1
BANF1
BAF nuclear assembly factor 1 0.599 0.692 0.65
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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
calcium activated nucleotidase 1 0.619 0.731 2.5E-06
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
cell division cycle 45 0.588 0.692 4.6E-05
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 1009
Gene Symbol: CDH11
CDH11
cadherin 11 0.512 0.808 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.100 None 0 0
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
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