abnormality of globe location Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality in the placement of the ocular globe (eyeball). (Human Phenotype Ontology, HP_0100886)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100886
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Genes

446 genes associated with the abnormality of globe location phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTB actin, beta
ACTG1 actin gamma 1
ACY1 aminoacylase 1
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ADK adenosine kinase
AGA aspartylglucosaminidase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AHDC1 AT hook, DNA binding motif, containing 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALPL alkaline phosphatase, liver/bone/kidney
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
ARID1B AT rich interactive domain 1B (SWI1-like)
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN3 ataxin 3
AVP arginine vasopressin
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BANF1 barrier to autointegration factor 1
BCR breakpoint cluster region
BLNK B-cell linker
BMP2 bone morphogenetic protein 2
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C12ORF57 chromosome 12 open reading frame 57
CANT1 calcium activated nucleotidase 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCND2 cyclin D2
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDON cell adhesion associated, oncogene regulated
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHN1 chimerin 1
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLP1 cleavage and polyadenylation factor I subunit 1
CNTN1 contactin 1
CNTN4 contactin 4
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CRBN cereblon
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRTAP cartilage associated protein
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNND2 catenin (cadherin-associated protein), delta 2
CTSK cathepsin K
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DNM1L dynamin 1-like
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK6 dedicator of cytokinesis 6
DOK7 docking protein 7
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
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
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FBXO31 F-box protein 31
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGF20 fibroblast growth factor 20
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
FOXC1 forkhead box C1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FUCA1 fucosidase, alpha-L- 1, tissue
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA2 GATA binding protein 2
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GK glycerol kinase
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIP1 glutamate receptor interacting protein 1
GSC goosecoid homeobox
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HHAT hedgehog acyltransferase
HIRA histone cell cycle regulator
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMGA2 high mobility group AT-hook 2
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IL11RA interleukin 11 receptor, alpha
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
IRX5 iroquois homeobox 5
ISPD isoprenoid synthase domain containing
ITCH itchy E3 ubiquitin protein ligase
ITGA8 integrin, alpha 8
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
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCTD1 potassium channel tetramerization domain containing 1
KDM5C lysine (K)-specific demethylase 5C
KIAA0196 KIAA0196
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LRRC8A leucine rich repeat containing 8 family, member A
LTBP4 latent transforming growth factor beta binding protein 4
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN1B1 mannosidase, alpha, class 1B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MEIS2 Meis homeobox 2
MID1 midline 1
MIPOL1 mirror-image polydactyly 1
MKS1 Meckel syndrome, type 1
MMP2 matrix metallopeptidase 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MYD88 myeloid differentiation primary response 88
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBAS neuroblastoma amplified sequence
ND1
NDE1 nudE neurodevelopment protein 1
NDP Norrie disease (pseudoglioma)
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
OTX2 orthodenticle homeobox 2
P3H1 prolyl 3-hydroxylase 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PAX3 paired box 3
PDE4D phosphodiesterase 4D, cAMP-specific
PDHX pyruvate dehydrogenase complex, component X
PEPD peptidase D
PEX1 peroxisomal biogenesis factor 1
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PGAP3 post-GPI attachment to proteins 3
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PITX2 paired-like homeodomain 2
PLEC plectin
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POC1A POC1 centriolar protein A
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POR P450 (cytochrome) oxidoreductase
POU1F1 POU class 1 homeobox 1
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROKR2 prokineticin receptor 2
PRRX1 paired related homeobox 1
PRTN3 proteinase 3
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PYCR1 pyrroline-5-carboxylate reductase 1
QARS glutaminyl-tRNA synthetase
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RB1 retinoblastoma 1
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPL35A ribosomal protein L35a
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEPT9 septin 9
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SH2B1 SH2B adaptor protein 1
SH3BP2 SH3-domain binding protein 2
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIM1 single-minded family bHLH transcription factor 1
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMS spermine synthase
SNAP29 synaptosomal-associated protein, 29kDa
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPINT2 serine peptidase inhibitor, Kunitz type, 2
SPRED1 sprouty-related, EVH1 domain containing 1
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
STAMBP STAM binding protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STIM1 stromal interaction molecule 1
STRADA STE20-related kinase adaptor alpha
SUFU suppressor of fused homolog (Drosophila)
TAZ tafazzin
TBC1D20 TBC1 domain family, member 20
TBCE tubulin folding cofactor E
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TCF12 transcription factor 12
TCF3 transcription factor 3
TCF4 transcription factor 4
TCOF1 Treacher Collins-Franceschetti syndrome 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)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGIF1 TGFB-induced factor homeobox 1
THOC6 THO complex 6
THRB thyroid hormone receptor, beta
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TRAPPC9 trafficking protein particle complex 9
TRIM37 tripartite motif containing 37
TTC37 tetratricopeptide repeat domain 37
TTI2 TELO2 interacting protein 2
TWIST1 twist family bHLH transcription factor 1
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMPS uridine monophosphate synthetase
USB1 U6 snRNA biogenesis 1
VSX1 visual system homeobox 1
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB18 zinc finger and BTB domain containing 18
ZBTB20 zinc finger and BTB domain containing 20
ZBTB24 zinc finger and BTB domain containing 24
ZEB2 zinc finger E-box binding homeobox 2
ZFPM2 zinc finger protein, FOG family member 2
ZIC2 Zic family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZSWIM6 zinc finger, SWIM-type containing 6