Source: INFERRED

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: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.350 0.724 9.0E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.382 0.828 0.70
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.388 0.759 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.416 0.828 7.2E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.441 0.690 0.99
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.443 0.793 0.71
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 7490
Gene Symbol: WT1
WT1
Wilms tumor 1 0.444 0.690 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.450 0.793 2.4E-18
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2016 2016
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.459 0.759 0.91
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box 2 0.459 0.759 0.73
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit 0.463 0.724 2.1E-07
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 7428
Gene Symbol: VHL
VHL
von Hippel-Lindau tumor suppressor 0.464 0.586 5.5E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.471 0.897 0.55
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2016 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.479 0.655 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.130 1.000 0 0 2000 2014
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
RPE65, retinoid isomerohydrolase 0.479 0.759 9.1E-14
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2000 2000
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
heat shock protein family D (Hsp60) member 1 0.481 0.793 0.99
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 22943
Gene Symbol: DKK1
DKK1
dickkopf WNT signaling pathway inhibitor 1 0.484 0.759 0.18
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
collagen type XVIII alpha 1 chain 0.489 0.759 1.5E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
sequestosome 1 0.490 0.828 1.0E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.491 0.793 0.57
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
endothelin receptor type B 0.492 0.793 1.2E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0