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: 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: 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: 6687
Gene Symbol: SPG7
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin 0.436 0.885 2.0E-36
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 1.000 1 8 2016 2016
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.140 None 1.000 0 1 2000 2014
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.473 0.808 5.0E-32
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 1.000 2 1 2012 2015
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 4
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
solute carrier family 19 member 1 0.523 0.692 6.5E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.140 None 1.000 0 2 2010 2017
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
calpain 1 0.539 0.808 5.9E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1