Strabismus Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0038379
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Genes

713 genes associated with the disease Strabismus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABHD5 abhydrolase domain containing 5
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTL6B actin-like 6B
ADAT3 adenosine deaminase, tRNA-specific 3
ADGRG1 adhesion G protein-coupled receptor G1
ADNP activity-dependent neuroprotector homeobox
ADPRS ADP-ribosylserine hydrolase
ADSL adenylosuccinate lyase
AGK acylglycerol kinase
AGTPBP1 ATP/GTP binding protein 1
AHI1 Abelson helper integration site 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
APC2 adenomatosis polyposis coli 2
ARHGAP31 Rho GTPase activating protein 31
ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARL13B ADP-ribosylation factor-like 13B
ARL3 ADP-ribosylation factor-like 3
ARMC9 armadillo repeat containing 9
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASCL1 achaete-scute family bHLH transcription factor 1
ASXL1 additional sex combs like transcriptional regulator 1
ASXL3 additional sex combs like transcriptional regulator 3
ATM ATM serine/threonine kinase
ATP13A2 ATPase type 13A2
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATR ATR serine/threonine kinase
AUTS2 autism susceptibility candidate 2
AXL AXL receptor tyrosine kinase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BCAP31 B-cell receptor-associated protein 31
BCHE butyrylcholinesterase
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEST1 bestrophin 1
BPTF bromodomain PHD finger transcription factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BRPF1 bromodomain and PHD finger containing, 1
C12ORF65 chromosome 12 open reading frame 65
C5ORF42 chromosome 5 open reading frame 42
CA8 carbonic anhydrase VIII
CABP4 calcium binding protein 4
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CAMK2B calcium/calmodulin-dependent protein kinase II beta
CAMTA1 calmodulin binding transcription activator 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CCDC174 coiled-coil domain containing 174
CCDC28B coiled-coil domain containing 28B
CD96 CD96 molecule
CDC42 cell division cycle 42
CDC45 cell division cycle 45
CDCA7 cell division cycle associated 7
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDK13 cyclin-dependent kinase 13
CDKL5 cyclin-dependent kinase-like 5
CDON cell adhesion associated, oncogene regulated
CENPJ centromere protein J
CEP104 centrosomal protein 104kDa
CEP120 centrosomal protein 120kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHAMP1 chromosome alignment maintaining phosphoprotein 1
CHAT choline O-acetyltransferase
CHD3 chromodomain helicase DNA binding protein 3
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLCN4 chloride channel, voltage-sensitive 4
CLDN16 claudin 16
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
CNTNAP2 contactin associated protein-like 2
COG5 component of oligomeric golgi complex 5
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL18A1 collagen, type XVIII, alpha 1
COL25A1 collagen, type XXV, alpha 1
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
COQ8A coenzyme Q8A
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CPLX1 complexin 1
CRLF1 cytokine receptor-like factor 1
CRYAA crystallin, alpha A
CRYBB1 crystallin, beta B1
CSPP1 centrosome and spindle pole associated protein 1
CTBP1 C-terminal binding protein 1
CTCF CCCTC-binding factor (zinc finger protein)
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYB5R3 cytochrome b5 reductase 3
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DDB2 damage-specific DNA binding protein 2, 48kDa
DDHD2 DDHD domain containing 2
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DEAF1 DEAF1 transcription factor
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DHX30 DEAH (Asp-Glu-Ala-His) box helicase 30
DISP1 dispatched homolog 1 (Drosophila)
DKC1 dyskeratosis congenita 1, dyskerin
DLG3 discs, large homolog 3 (Drosophila)
DLL1 delta-like 1 (Drosophila)
DLL4 delta-like 4 (Drosophila)
DMBX1 diencephalon/mesencephalon homeobox 1
DMPK dystrophia myotonica-protein kinase
DNM1L dynamin 1-like
DOCK6 dedicator of cytokinesis 6
DPF2 D4, zinc and double PHD fingers family 2
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EBF3 early B-cell factor 3
ECEL1 endothelin converting enzyme-like 1
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ERLIN2 ER lipid raft associated 2
ERMARD ER membrane-associated RNA degradation
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXOSC3 exosome component 3
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FA2H fatty acid 2-hydroxylase
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBN1 fibrillin 1
FBXL3 F-box and leucine-rich repeat protein 3
FBXO11 F-box protein 11
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF14 fibroblast growth factor 14
FGF3 fibroblast growth factor 3
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FIBP fibroblast growth factor (acidic) intracellular binding protein
FKRP fukutin related protein
FKTN fukutin
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXE3 forkhead box E3
FOXG1 forkhead box G1
FOXH1 forkhead box H1
FOXL2 forkhead box L2
FOXP1 forkhead box P1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRMD4A FERM domain containing 4A
FRMD7 FERM domain containing 7
FRMPD4 FERM and PDZ domain containing 4
FUK fucokinase
FZD2 frizzled class receptor 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GAS1 growth arrest-specific 1
GATA4 GATA binding protein 4
GATAD2B GATA zinc finger domain containing 2B
GBA glucosidase, beta, acid
GDF1 growth differentiation factor 1
GDF5 growth differentiation factor 5
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GGCX gamma-glutamyl carboxylase
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GK glycerol kinase
GLI1 GLI family zinc finger 1
GLI2 GLI family zinc finger 2
GLRX5 glutaredoxin 5
GMNN geminin, DNA replication inhibitor
GMPPB GDP-mannose pyrophosphorylase B
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPR143 G protein-coupled receptor 143
GPR179 G protein-coupled receptor 179
GRIA4 glutamate receptor, ionotropic, AMPA 4
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRK1 G protein-coupled receptor kinase 1
GRM6 glutamate receptor, metabotropic 6
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H3F3A H3 histone, family 3A
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
HDAC8 histone deacetylase 8
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HESX1 HESX homeobox 1
HHAT hedgehog acyltransferase
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIRA histone cell cycle regulator
HIST1H1E histone cluster 1, H1e
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HOOK2 hook microtubule-tethering protein 2
HOXA13 homeobox A13
HOXB1 homeobox B1
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
HYLS1 hydrolethalus syndrome 1
IFIH1 interferon induced with helicase C domain 1
IFT54 intraflagellar transport 54
IGF1R insulin-like growth factor 1 receptor
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPP5K inositol polyphosphate-5-phosphatase K
IQSEC2 IQ motif and Sec7 domain 2
JAG1 jagged 1
JMJD1C jumonji domain containing 1C
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6A K(lysine) acetyltransferase 6A
KAT6B K(lysine) acetyltransferase 6B
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KDM5B lysine (K)-specific demethylase 5B
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0195 KIAA0195
KIAA0556 KIAA0556
KIAA0586 KIAA0586
KIAA1109 KIAA1109
KIF14 kinesin family member 14
KIF15 kinesin family member 15
KIF21A kinesin family member 21A
KIF7 kinesin family member 7
KLHL7 kelch-like family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT25 keratin 25, type I
KRT71 keratin 71, type II
KRT74 keratin 74, type II
L1CAM L1 cell adhesion molecule
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA1 laminin, alpha 1
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LARP7 La ribonucleoprotein domain family, member 7
LBR lamin B receptor
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPH lipase, member H
LIPT1 lipoyltransferase 1
LONP1 lon peptidase 1, mitochondrial
LPAR6 lysophosphatidic acid receptor 6
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
LRPPRC leucine-rich pentatricopeptide repeat containing
LYST lysosomal trafficking regulator
LZTR1 leucine-zipper-like transcription regulator 1
MAB21L1 mab-21-like 1 (C. elegans)
MAB21L2 mab-21-like 2 (C. elegans)
MACF1 microtubule-actin crosslinking factor 1
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGEL2 melanoma antigen family L2
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MAST1 microtubule associated serine/threonine kinase 1
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCM3AP minichromosome maintenance complex component 3 associated protein
MCOLN1 mucolipin 1
MCTP2 multiple C2 domains, transmembrane 2
MDH2 malate dehydrogenase 2, NAD (mitochondrial)
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED13L mediator complex subunit 13-like
MED25 mediator complex subunit 25
MEF2C myocyte enhancer factor 2C
MFRP membrane frizzled-related protein
MID2 midline 2
MITF microphthalmia-associated transcription factor
MKS1 Meckel syndrome, type 1
MLXIPL MLX interacting protein-like
MPDU1 mannose-P-dolichol utilization defect 1
MPDZ multiple PDZ domain protein
MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
MRAS muscle RAS oncogene homolog
MT-ND2 MTND2
MT-ND3 NADH dehydrogenase, subunit 3 (complex I)
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYO5A myosin VA (heavy chain 12, myoxin)
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NAXE NAD(P)HX epimerase
NCAPG2 non-SMC condensin II complex, subunit G2
ND1
NDP Norrie disease (pseudoglioma)
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA4 NDUFA4, mitochondrial complex associated
NDUFA6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFB10 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEB nebulin
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NELFA negative elongation factor complex member A
NEUROD2 neuronal differentiation 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NGLY1 N-glycanase 1
NHLRC2 NHL repeat containing 2
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPBL Nipped-B homolog (Drosophila)
NKX6-2 NK6 homeobox 2
NODAL nodal growth differentiation factor
NOG noggin
NONO non-POU domain containing, octamer-binding
NOTCH1 notch 1
NPHP1 nephronophthisis 1 (juvenile)
NPLOC4 nuclear protein localization 4 homolog (S. cerevisiae)
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
NSD2 nuclear receptor binding SET domain protein 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NUBPL nucleotide binding protein-like
NUP133 nucleoporin 133kDa
NXN nucleoredoxin
NYX nyctalopin
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
OPA1 optic atrophy 1 (autosomal dominant)
OPHN1 oligophrenin 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
ORC1 origin recognition complex, subunit 1
OSCAR osteoclast associated, immunoglobulin-like receptor
OSGEP O-sialoglycoprotein endopeptidase
OTX2 orthodenticle homeobox 2
PACS1 phosphofurin acidic cluster sorting protein 1
PACS2 phosphofurin acidic cluster sorting protein 2
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PBX1 pre-B-cell leukemia homeobox 1
PCDH19 protocadherin 19
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PHF21A PHD finger protein 21A
PHIP pleckstrin homology domain interacting protein
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PIBF1 progesterone immunomodulatory binding factor 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PITX2 paired-like homeodomain 2
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLK4 polo-like kinase 4
PLPBP pyridoxal phosphate binding protein
PLXNA2 plexin A2
PLXND1 plexin D1
PMM2 phosphomannomutase 2
PNKP polynucleotide kinase 3'-phosphatase
PNPLA6 patatin-like phospholipase domain containing 6
POGZ pogo transposable element with ZNF domain
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
POU3F4 POU class 3 homeobox 4
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PPP2R5D protein phosphatase 2, regulatory subunit B', delta
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRMT7 protein arginine methyltransferase 7
PROKR2 prokineticin receptor 2
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PRSS56 protease, serine, 56
PSG9 pregnancy specific beta-1-glycoprotein 9
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
PURA purine-rich element binding protein A
PUS3 pseudouridylate synthase 3
PYCR1 pyrroline-5-carboxylate reductase 1
QARS1 glutaminyl-tRNA synthetase 1
RAB11B RAB11B, member RAS oncogene family
RAB39B RAB39B, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RAP1A RAP1A, member of RAS oncogene family
RAP1B RAP1B, member of RAS oncogene family
RASA2 RAS p21 protein activator 2
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RERE arginine-glutamic acid dipeptide (RE) repeats
RET ret proto-oncogene
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RFC2 replication factor C (activator 1) 2, 40kDa
RFT1 RFT1 homolog (S. cerevisiae)
RFWD3 ring finger and WD repeat domain 3
RHO rhodopsin
RIT1 Ras-like without CAAX 1
RNF111 ring finger protein 111
RNF135 ring finger protein 135
RNH1 ribonuclease/angiogenin inhibitor 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRAS related RAS viral (r-ras) oncogene homolog
RREB1 ras responsive element binding protein 1
RSPRY1 ring finger and SPRY domain containing 1
RSRC2 arginine/serine-rich coiled-coil 2
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SARDH sarcosine dehydrogenase
SATB2 SATB homeobox 2
SCAMP4 secretory carrier membrane protein 4
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEC24C SEC24 family member C
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETD2 SET domain containing 2
SETD5 SET domain containing 5
SETX senataxin
SGPL1 sphingosine-1-phosphate lyase 1
SH2B1 SH2B adaptor protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHC3 SHC (Src homology 2 domain containing) transforming protein 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHROOM4 shroom family member 4
SIK1 salt-inducible kinase 1
SIL1 SIL1 nucleotide exchange factor
SIM1 single-minded family bHLH transcription factor 1
SIN3A SIN3 transcription regulator family member A
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC39A8 solute carrier family 39 (zinc transporter), member 8
SLC45A2 solute carrier family 45, member 2
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNIP1 Smad nuclear interacting protein 1
SNX27 sorting nexin family member 27
SON SON DNA binding protein
SOS1 son of sevenless homolog 1 (Drosophila)
SOS2 son of sevenless homolog 2 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SOX4 SRY (sex determining region Y)-box 4
SOX5 SRY (sex determining region Y)-box 5
SPART spartin
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SPTBN2 spectrin, beta, non-erythrocytic 2
SRCAP Snf2-related CREBBP activator protein
SSR4 signal sequence receptor, delta
STRADA STE20-related kinase adaptor alpha
STXBP1 syntaxin binding protein 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUFU suppressor of fused homolog (Drosophila)
SURF1 surfeit 1
SYNE1 spectrin repeat containing, nuclear envelope 1
SYT1 synaptotagmin I
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX4 T-box 4
TCF12 transcription factor 12
TCF20 transcription factor 20 (AR1)
TCF4 transcription factor 4
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TDGF1 teratocarcinoma-derived growth factor 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFBI transforming growth factor, beta-induced, 68kDa
TGIF1 TGFB-induced factor homeobox 1
THOC2 THO complex 2
TIMMDC1 translocase of inner mitochondrial membrane domain containing 1
TLK2 tousled-like kinase 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM126B transmembrane protein 126B
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM98 transmembrane protein 98
TOR1A torsin family 1, member A (torsin A)
TRAPPC11 trafficking protein particle complex 11
TRAPPC6B trafficking protein particle complex 6B
TREX1 three prime repair exonuclease 1
TRIM37 tripartite motif containing 37
TRIM8 tripartite motif containing 8
TRIO trio Rho guanine nucleotide exchange factor
TRIP11 thyroid hormone receptor interactor 11
TRIP12 thyroid hormone receptor interactor 12
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TSHR thyroid stimulating hormone receptor
TSPAN10 tetraspanin 10
TTI2 TELO2 interacting protein 2
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TUBGCP4 tubulin, gamma complex associated protein 4
TUBGCP6 tubulin, gamma complex associated protein 6
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
UBE2T ubiquitin-conjugating enzyme E2T
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1 ubiquitin recognition factor in ER associated degradation 1
UNC80 unc-80 homolog (C. elegans)
USP7 ubiquitin specific peptidase 7 (herpes virus-associated)
USP9X ubiquitin specific peptidase 9, X-linked
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
VIP vasoactive intestinal peptide
VLDLR very low density lipoprotein receptor
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS4B vacuolar protein sorting 4 homolog B (S. cerevisiae)
WAC WW domain containing adaptor with coiled-coil
WDR26 WD repeat domain 26
WDR73 WD repeat domain 73
WDR81 WD repeat domain 81
WNT5A wingless-type MMTV integration site family, member 5A
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YAP1 Yes-associated protein 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YME1L1 YME1-like 1 ATPase
YY1 YY1 transcription factor
ZBTB16 zinc finger and BTB domain containing 16
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZIC1 Zic family member 1
ZIC2 Zic family member 2
ZNF423 zinc finger protein 423