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: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
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: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
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: C0028738
Disease: Nystagmus
Nystagmus
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: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0028738
Disease: Nystagmus
Nystagmus
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: C0028738
Disease: Nystagmus
Nystagmus
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: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
DNA methyltransferase 1 0.406 0.885 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.409 0.885 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 196
Gene Symbol: AHR
AHR
aryl hydrocarbon receptor 0.410 0.923 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
synaptotagmin 1 0.412 0.846 0.60
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 1.000 2 1 2007 2007
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0