Source: CLINVAR

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: 9786
Gene Symbol: KIAA0586
KIAA0586
KIAA0586 0.565 0.731 5.1E-16
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
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: 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: 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: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
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: 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: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
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: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
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
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: 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: 9711
Gene Symbol: RUBCN
RUBCN
rubicon autophagy regulator 0.716 0.423 1.4E-13
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.650 0.654 2.1E-15
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: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
PHD finger protein 6 0.581 0.692 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
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: 81570
Gene Symbol: CLPB
CLPB
caseinolytic mitochondrial matrix peptidase chaperone subunit B 0.631 0.654 5.0E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2
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: 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: 79876
Gene Symbol: UBA5
UBA5
ubiquitin like modifier activating enzyme 5 0.582 0.731 2.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2