abnormality of the anterior segment of the eye Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the anterior segment of the eye. (Human Phenotype Ontology, HP_0004328)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004328
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Genes

725 genes associated with the abnormality of the anterior segment of the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AASS aminoadipate-semialdehyde synthase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ADAMTSL4 ADAMTS-like 4
ADGRV1 adhesion G protein-coupled receptor V1
AGA aspartylglucosaminidase
AGK acylglycerol kinase
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APOA1 apolipoprotein A-I
APOB apolipoprotein B
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
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARSB arylsulfatase B
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASPH aspartate beta-hydroxylase
ASXL1 additional sex combs like transcriptional regulator 1
ATOH7 atonal homolog 7 (Drosophila)
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
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
BCOR BCL6 corepressor
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
BFSP1 beaded filament structural protein 1, filensin
BFSP2 beaded filament structural protein 2, phakinin
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BMP4 bone morphogenetic protein 4
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C10ORF2 chromosome 10 open reading frame 2
C12ORF57 chromosome 12 open reading frame 57
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CA8 carbonic anhydrase VIII
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
CDKL5 cyclin-dependent kinase-like 5
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CERKL ceramide kinase-like
CERS3 ceramide synthase 3
CHD7 chromodomain helicase DNA binding protein 7
CHMP1A charged multivesicular body protein 1A
CHMP4B charged multivesicular body protein 4B
CHN1 chimerin 1
CHRDL1 chordin-like 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CIB2 calcium and integrin binding family member 2
CISD2 CDGSH iron sulfur domain 2
CLDN16 claudin 16
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL7A1 collagen, type VII, alpha 1
COL8A2 collagen, type VIII, alpha 2
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMT catechol-O-methyltransferase
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CREBBP CREB binding protein
CRX cone-rod homeobox
CRYAA crystallin, alpha A
CRYAB crystallin, alpha B
CRYBA1 crystallin, beta A1
CRYBA2 crystallin, beta A2
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYBB3 crystallin, beta B3
CRYGB crystallin, gamma B
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CRYGS crystallin, gamma S
CSPP1 centrosome and spindle pole associated protein 1
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DCN decorin
DDB2 damage-specific DNA binding protein 2, 48kDa
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DFNB31 deafness, autosomal recessive 31
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DLX5 distal-less homeobox 5
DMPK dystrophia myotonica-protein kinase
DNAI1 dynein, axonemal, intermediate chain 1
DOCK6 dedicator of cytokinesis 6
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DRD5 dopamine receptor D5
DSG4 desmoglein 4
DST dystonin
DTNBP1 dystrobrevin binding protein 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
EDN3 endothelin 3
EDNRB endothelin receptor type B
ELN elastin
ELP4 elongator acetyltransferase complex subunit 4
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA2 EPH receptor A2
EPHX2 epoxide hydrolase 2, cytoplasmic
ERCC1 excision repair cross-complementation group 1
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
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EYS eyes shut homolog (Drosophila)
FAM111A family with sequence similarity 111, member A
FAM111B family with sequence similarity 111, member B
FAM126A family with sequence similarity 126, member A
FAM161A family with sequence similarity 161, member A
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
FBN2 fibrillin 2
FBXL4 F-box and leucine-rich repeat protein 4
FBXW4 F-box and WD repeat domain containing 4
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGF3 fibroblast growth factor 3
FGF5 fibroblast growth factor 5
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXE3 forkhead box E3
FOXL2 forkhead box L2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FSCN2 fascin actin-bundling protein 2, retinal
FTL ferritin, light polypeptide
FUCA1 fucosidase, alpha-L- 1, tissue
FZD4 frizzled class receptor 4
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALK1 galactokinase 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GALT galactose-1-phosphate uridylyltransferase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GCM2 glial cells missing homolog 2 (Drosophila)
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GFER growth factor, augmenter of liver regeneration
GJA1 gap junction protein, alpha 1, 43kDa
GJA3 gap junction protein, alpha 3, 46kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GORAB golgin, RAB6-interacting
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPR143 G protein-coupled receptor 143
GRIP1 glutamate receptor interacting protein 1
GSN gelsolin
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HARS histidyl-tRNA synthetase
HBB hemoglobin, beta
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HDAC9 histone deacetylase 9
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HHAT hedgehog acyltransferase
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HRAS Harvey rat sarcoma viral oncogene homolog
HSF4 heat shock transcription factor 4
HSPG2 heparan sulfate proteoglycan 2
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
IQCB1 IQ motif containing B1
ISPD isoprenoid synthase domain containing
ITM2B integral membrane protein 2B
JAG1 jagged 1
JAM3 junctional adhesion molecule 3
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
KERA keratocan
KIAA0196 KIAA0196
KIF11 kinesin family member 11
KIF1B kinesin family member 1B
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT12 keratin 12, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT3 keratin 3, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT71 keratin 71, type II
KRT74 keratin 74, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT86 keratin 86, type II
LAMA3 laminin, alpha 3
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LBR lamin B receptor
LCA5 Leber congenital amaurosis 5
LCAT lecithin-cholesterol acyltransferase
LDLR low density lipoprotein receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPH lipase, member H
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LPAR6 lysophosphatidic acid receptor 6
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LTBP2 latent transforming growth factor beta binding protein 2
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAK male germ cell-associated kinase
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MEFV Mediterranean fever
MERTK MER proto-oncogene, tyrosine kinase
MIR184 microRNA 184
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLPH melanophilin
MMP1 matrix metallopeptidase 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
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-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTAP methylthioadenosine phosphorylase
MVK mevalonate kinase
MYH11 myosin, heavy chain 11, smooth muscle
MYH9 myosin, heavy chain 9, non-muscle
MYO5A myosin VA (heavy chain 12, myoxin)
MYO7A myosin VIIA
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
ND1
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NHP2 NHP2 ribonucleoprotein
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NLRP1 NLR family, pyrin domain containing 1
NME1 NME/NM23 nucleoside diphosphate kinase 1
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OAT ornithine aminotransferase
OCA2 oculocutaneous albinism II
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
ORAI1 ORAI calcium release-activated calcium modulator 1
OSMR oncostatin M receptor
OTX2 orthodenticle homeobox 2
P3H2 prolyl 3-hydroxylase 2
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PCDH15 protocadherin-related 15
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDZD7 PDZ domain containing 7
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
PEX7 peroxisomal biogenesis factor 7
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIKFYVE phosphoinositide kinase, FYVE finger containing
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PNPLA1 patatin-like phospholipase domain containing 1
POLG polymerase (DNA directed), gamma
POLH polymerase (DNA directed), eta
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-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
POU6F2 POU class 6 homeobox 2
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRSS56 protease, serine, 56
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PXDN peroxidasin
PYCR1 pyrroline-5-carboxylate reductase 1
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB27A RAB27A, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RAX retina and anterior neural fold homeobox
RB1 retinoblastoma 1
RBP3 retinol binding protein 3, interstitial
RBP4 retinol binding protein 4, plasma
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RIPK4 receptor-interacting serine-threonine kinase 4
RLBP1 retinaldehyde binding protein 1
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RS1 retinoschisin 1
RTEL1 regulator of telomere elongation helicase 1
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SALL2 spalt-like transcription factor 2
SALL4 spalt-like transcription factor 4
SAT1 spermidine/spermine N1-acetyltransferase 1
SC5D sterol-C5-desaturase
SDCCAG8 serologically defined colon cancer antigen 8
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SETBP1 SET binding protein 1
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SHH sonic hedgehog
SIL1 SIL1 nucleotide exchange factor
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC16A12 solute carrier family 16, member 12
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC38A8 solute carrier family 38, member 8
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC45A2 solute carrier family 45, member 2
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A14 solute carrier family 7, member 14
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
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
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
SNAI2 snail family zinc finger 2
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SPATA7 spermatogenesis associated 7
SPINT2 serine peptidase inhibitor, Kunitz type, 2
SRD5A3 steroid 5 alpha-reductase 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAT4 signal transducer and activator of transcription 4
STIM1 stromal interaction molecule 1
STS steroid sulfatase (microsomal), isozyme S
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
TACSTD2 tumor-associated calcium signal transducer 2
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
TAT tyrosine aminotransferase
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBC1D7 TBC1 domain family, member 7
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX22 T-box 22
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
TDRD7 tudor domain containing 7
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TENM3 teneurin transmembrane protein 3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGFBI transforming growth factor, beta-induced, 68kDa
TGM1 transglutaminase 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TMEM114 transmembrane protein 114
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNXB tenascin XB
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TRAPPC11 trafficking protein particle complex 11
TRAPPC2 trafficking protein particle complex 2
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRNE
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSPAN12 tetraspanin 12
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TUBG1 tubulin, gamma 1
TUBGCP6 tubulin, gamma complex associated protein 6
TULP1 tubby like protein 1
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBIAD1 UbiA prenyltransferase domain containing 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UROC1 urocanate hydratase 1
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VCAN versican
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIM vimentin
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX1 visual system homeobox 1
VSX2 visual system homeobox 2
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WDR81 WD repeat domain 81
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT10B wingless-type MMTV integration site family, member 10B
WNT3 wingless-type MMTV integration site family, member 3
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
YAP1 Yes-associated protein 1
ZBTB20 zinc finger and BTB domain containing 20
ZEB1 zinc finger E-box binding homeobox 1
ZEB2 zinc finger E-box binding homeobox 2
ZNF335 zinc finger protein 335
ZNF423 zinc finger protein 423
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513