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: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.564 0.690 1.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2015 2015
Entrez Id: 23064
Gene Symbol: SETX
SETX
senataxin 0.627 0.690 0.99
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2015 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.559 0.655 1.9E-23
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2015 2015
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel beta 3 0.659 0.138 5.6E-17
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2015 2015
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.573 0.621 1.1E-20
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2015 2015
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.505 0.724 4.3E-32
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2015 2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.645 0.483 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2017 2017
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.727 0.276
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2015 2015
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.584 0.517 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.130 1.000 1 0 2010 2016
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
oligophrenin 1 0.656 0.414 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2015 2015
Entrez Id: 4693
Gene Symbol: NDP
NDP
NDP, norrin cystine knot growth factor 0.602 0.517 0.67
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2015 2015
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Meckel syndrome, type 1 0.546 0.690 4.6E-16
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2015 2015
Entrez Id: 2581
Gene Symbol: GALC
GALC
galactosylceramidase 0.648 0.448 3.1E-15
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 1 0 2015 2015
Entrez Id: 4935
Gene Symbol: GPR143
GPR143
G protein-coupled receptor 143 0.727 0.241 0.93
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.130 1.000 1 0 2006 2016
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.528 0.690 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR
mitochondrial trans-2-enoyl-CoA reductase 0.735 0.207 2.5E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1
NADH:ubiquinone oxidoreductase complex assembly factor 1 0.667 0.379 3.8E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
solute carrier family 45 member 2 0.619 0.448 2.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 < 0.001 0 0 2014 2014
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5
glutaredoxin 5 0.663 0.414 0.75
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
transmembrane protein 216 0.582 0.552 1.9E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51300
Gene Symbol: TIMMDC1
TIMMDC1
translocase of inner mitochondrial membrane domain containing 1 0.639 0.483 9.3E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51317
Gene Symbol: PHF21A
PHF21A
PHD finger protein 21A 0.762 0.241 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5
abhydrolase domain containing 5 0.667 0.621 4.7E-07
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
tyrosyl-tRNA synthetase 2 0.690 0.379 4.8E-11
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 27229
Gene Symbol: TUBGCP4
TUBGCP4
tubulin gamma complex associated protein 4 0.713 0.345 4.5E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0