congenital nystagmus Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. (Human Disease Ontology, DOID_9649)
Similar Terms
Downloads & Tools

Genes

59 genes co-occuring with the disease congenital nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
FRMD7 FERM domain containing 7 2.97194
GPR143 G protein-coupled receptor 143 2.16445
LMLN leishmanolysin-like (metallopeptidase M8 family) 1.94548
WDPCP WD repeat containing planar cell polarity effector 1.60726
SLC38A8 solute carrier family 38, member 8 1.48208
SLC25A14 solute carrier family 25 (mitochondrial carrier, brain), member 14 1.47901
PAX6 paired box 6 1.42542
CNGB3 cyclic nucleotide gated channel beta 3 1.3603
CNGA3 cyclic nucleotide gated channel alpha 3 1.32061
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 1.2861
CCDC28B coiled-coil domain containing 28B 1.25341
OCA2 oculocutaneous albinism II 1.20007
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 1.20007
TTC21B tetratricopeptide repeat domain 21B 1.19445
HPS6 Hermansky-Pudlak syndrome 6 1.11898
CABP4 calcium binding protein 4 1.08999
HPS5 Hermansky-Pudlak syndrome 5 1.02566
SDCCAG8 serologically defined colon cancer antigen 8 1.01343
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 1.00752
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 0.97128
PAK2 p21 protein (Cdc42/Rac)-activated kinase 2 0.962472
GJC2 gap junction protein, gamma 2, 47kDa 0.937459
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) 0.935385
MKS1 Meckel syndrome, type 1 0.906498
EZR ezrin 0.88516
HPS3 Hermansky-Pudlak syndrome 3 0.867549
TYRP1 tyrosinase-related protein 1 0.86059
RDX radixin 0.847898
TYR tyrosinase 0.831918
MSN moesin 0.788442
STXBP1 syntaxin binding protein 1 0.752492
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 0.741923
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 0.707961
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 0.70434
AHI1 Abelson helper integration site 1 0.700321
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 0.667947
NYX nyctalopin 0.66199
ALMS1 Alstrom syndrome protein 1 0.625319
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha 0.610838
BBS1 Bardet-Biedl syndrome 1 0.593285
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 0.545093
CHM choroideremia (Rab escort protein 1) 0.533088
NDP Norrie disease (pseudoglioma) 0.502292
RAC3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 0.479047
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 0.473361
CRX cone-rod homeobox 0.468063
GAP43 growth associated protein 43 0.431144
TBP TATA box binding protein 0.425514
BEST1 bestrophin 1 0.421016
FKTN fukutin 0.421016
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 0.418394
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 0.383708
RPE65 retinal pigment epithelium-specific protein 65kDa 0.370368
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 0.329565
COMP cartilage oligomeric matrix protein 0.325552
PPT1 palmitoyl-protein thioesterase 1 0.28831
CYCS cytochrome c, somatic 0.268687
C6ORF25 chromosome 6 open reading frame 25 0.266203
BMP2 bone morphogenetic protein 2 0.186811