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: 7287
Gene Symbol: TULP1
TULP1
TUB like protein 1 0.623 0.462 5.7E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4
cyclin and CBS domain divalent metal cation transport mediator 4 0.695 0.346 2.9E-07
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2015 2015
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: 51151
Gene Symbol: SLC45A2
SLC45A2
solute carrier family 45 member 2 0.626 0.538 1.7E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
laminin subunit beta 2 0.601 0.654 2.5E-19
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 4535
Gene Symbol: ND1
ND1
NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1
transient receptor potential cation channel subfamily M member 1 0.626 0.462 1.6E-42
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2018 2018
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 0
Entrez Id: 5995
Gene Symbol: RGR
RGR
retinal G protein coupled receptor 0.691 0.385 2.4E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
double PHD fingers 2 0.604 0.731 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 6011
Gene Symbol: GRK1
GRK1
G protein-coupled receptor kinase 1 0.695 0.423 3.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
retinaldehyde binding protein 1 0.644 0.500 1.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 60481
Gene Symbol: ELOVL5
ELOVL5
ELOVL fatty acid elongase 5 0.638 0.462 0.93
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 60506
Gene Symbol: NYX
NYX
nyctalopin 0.678 0.192 0.13
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
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 0 0 2007 2007
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: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 5906
Gene Symbol: RAP1A
RAP1A
RAP1A, member of RAS oncogene family 0.502 0.808 0.62
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0