abnormal conjugate eye movement Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. (Human Phenotype Ontology, HP_0000549)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000549
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Genes

436 genes associated with the abnormal conjugate eye movement phenotype by mapping known disease genes to disease phenotypes from the HPO 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
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACSL4 acyl-CoA synthetase long-chain family member 4
ADAT3 adenosine deaminase, tRNA-specific 3
ADGRG1 adhesion G protein-coupled receptor G1
ADSL adenylosuccinate lyase
AGK acylglycerol kinase
AHDC1 AT hook, DNA binding motif, containing 1
AHI1 Abelson helper integration site 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 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
ALX4 ALX homeobox 4
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANKRD11 ankyrin repeat domain 11
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
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
ATM ATM serine/threonine kinase
ATOH7 atonal homolog 7 (Drosophila)
ATP10A ATPase, class V, type 10A
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GAT3 beta-1,3-glucuronyltransferase 3
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCAP31 B-cell receptor-associated protein 31
BCOR BCL6 corepressor
BEST1 bestrophin 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
C12ORF65 chromosome 12 open reading frame 65
C5ORF42 chromosome 5 open reading frame 42
CA8 carbonic anhydrase VIII
CAMTA1 calmodulin binding transcription activator 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CD96 CD96 molecule
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP83 centrosomal protein 83kDa
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHMP1A charged multivesicular body protein 1A
CHN1 chimerin 1
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLDN16 claudin 16
CLIP2 CAP-GLY domain containing linker protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
COG8 component of oligomeric golgi complex 8
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL18A1 collagen, type XVIII, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CREBBP CREB binding protein
CRYAA crystallin, alpha A
CSPP1 centrosome and spindle pole associated protein 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CYB5R3 cytochrome b5 reductase 3
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DCN decorin
DDHD2 DDHD domain containing 2
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DKC1 dyskeratosis congenita 1, dyskerin
DLG3 discs, large homolog 3 (Drosophila)
DMPK dystrophia myotonica-protein kinase
DOCK6 dedicator of cytokinesis 6
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPP6 dipeptidyl-peptidase 6
EFNB1 ephrin-B1
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EMX2 empty spiracles homeobox 2
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ERLIN2 ER lipid raft associated 2
ERMARD ER membrane-associated RNA degradation
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 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
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF14 fibroblast growth factor 14
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOXL2 forkhead box L2
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GBA glucosidase, beta, acid
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GK glycerol kinase
GLRB glycine receptor, beta
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPR143 G protein-coupled receptor 143
GPR179 G protein-coupled receptor 179
GRM1 glutamate receptor, metabotropic 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HESX1 HESX homeobox 1
HHAT hedgehog acyltransferase
HIRA histone cell cycle regulator
HMGB3 high mobility group box 3
HOXA13 homeobox A13
HOXB1 homeobox B1
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
IFT27 intraflagellar transport 27
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA2022 KIAA2022
KIF21A kinesin family member 21A
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
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
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
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
LZTFL1 leucine zipper transcription factor-like 1
MAGEL2 melanoma antigen family L2
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBD5 methyl-CpG binding domain protein 5
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MFN2 mitofusin 2
MFRP membrane frizzled-related protein
MID2 midline 2
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MPST mercaptopyruvate sulfurtransferase
MTFMT mitochondrial methionyl-tRNA formyltransferase
MUSK muscle, skeletal, receptor tyrosine 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
NBAS neuroblastoma amplified sequence
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
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
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)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NOTCH1 notch 1
NPHP1 nephronophthisis 1 (juvenile)
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
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NUBPL nucleotide binding protein-like
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPA1 optic atrophy 1 (autosomal dominant)
OPHN1 oligophrenin 1
ORC1 origin recognition complex, subunit 1
OTX2 orthodenticle homeobox 2
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
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
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PITX2 paired-like homeodomain 2
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PMM2 phosphomannomutase 2
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-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROKR2 prokineticin receptor 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPS19 ribosomal protein S19
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SATB2 SATB homeobox 2
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SETX senataxin
SH2B1 SH2B adaptor protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIL1 SIL1 nucleotide exchange factor
SIM1 single-minded family bHLH transcription factor 1
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC38A8 solute carrier family 38, member 8
SLC45A2 solute carrier family 45, member 2
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
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
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
SNRPN small nuclear ribonucleoprotein polypeptide N
SOBP sine oculis binding protein homolog (Drosophila)
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SRCAP Snf2-related CREBBP activator protein
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUFU suppressor of fused homolog (Drosophila)
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TCF12 transcription factor 12
TCF4 transcription factor 4
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
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
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMCO1 transmembrane and coiled-coil domains 1
TMEM126A transmembrane protein 126A
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM98 transmembrane protein 98
TRAPPC11 trafficking protein particle complex 11
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TUBB3 tubulin, beta 3 class III
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
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
VLDLR very low density lipoprotein receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR81 WD repeat domain 81
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
YAP1 Yes-associated protein 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
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
ZNF423 zinc finger protein 423
ZNF592 zinc finger protein 592