abnormality of the uvea Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the uvea, the vascular layer of the eyeball. (Human Phenotype Ontology, HP_0000553)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000553
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Genes

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

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTG1 actin gamma 1
ACVRL1 activin A receptor type II-like 1
ADAMTSL4 ADAMTS-like 4
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ANK1 ankyrin 1, erythrocytic
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARL13B ADP-ribosylation factor-like 13B
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ASPH aspartate beta-hydroxylase
ATOH7 atonal homolog 7 (Drosophila)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
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
C12ORF57 chromosome 12 open reading frame 57
C2ORF71 chromosome 2 open reading frame 71
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CAPN5 calpain 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CDHR1 cadherin-related family member 1
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CERKL ceramide kinase-like
CHD7 chromodomain helicase DNA binding protein 7
CHM choroideremia (Rab escort protein 1)
CHN1 chimerin 1
CHRDL1 chordin-like 1
CLCN2 chloride channel, voltage-sensitive 2
CLCNKB chloride channel, voltage-sensitive Kb
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COX7B cytochrome c oxidase subunit VIIb
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CREBBP CREB binding protein
CRX cone-rod homeobox
CRYAA crystallin, alpha A
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CSPP1 centrosome and spindle pole associated protein 1
CTC1 CTS telomere maintenance complex component 1
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLX5 distal-less homeobox 5
DNM2 dynamin 2
DTNBP1 dystrobrevin binding protein 1
DUX4 double homeobox 4
EDN3 endothelin 3
EDNRB endothelin receptor type B
ELN elastin
ELP4 elongator acetyltransferase complex subunit 4
ENG endoglin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA2 EPH receptor A2
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERF Ets2 repressor factor
ETHE1 ethylmalonic encephalopathy 1
EYS eyes shut homolog (Drosophila)
FAM111A family with sequence similarity 111, member A
FAM161A family with sequence similarity 161, member A
FAM58A family with sequence similarity 58, 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
FBXW4 F-box and WD repeat domain containing 4
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXE3 forkhead box E3
FRG1 FSHD region gene 1
FSCN2 fascin actin-bundling protein 2, retinal
FZD4 frizzled class receptor 4
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GCDH glutaryl-CoA dehydrogenase
GDF2 growth differentiation factor 2
GDF3 growth differentiation factor 3
GJA1 gap junction protein, alpha 1, 43kDa
GJA8 gap junction protein, alpha 8, 50kDa
GMPPA GDP-mannose pyrophosphorylase A
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GPR143 G protein-coupled receptor 143
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HCCS holocytochrome c synthase
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HHAT hedgehog acyltransferase
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
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
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
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG1 interphotoreceptor matrix proteoglycan 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ISPD isoprenoid synthase domain containing
JAG1 jagged 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF11 kinesin family member 11
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
KRIT1 KRIT1, ankyrin repeat containing
KRT71 keratin 71, type II
KRT74 keratin 74, type II
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LIPH lipase, member H
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
LRP5 low density lipoprotein receptor-related protein 5
LTBP2 latent transforming growth factor beta binding protein 2
LYST lysosomal trafficking regulator
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAK male germ cell-associated kinase
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MITF microphthalmia-associated transcription factor
MKS1 Meckel syndrome, type 1
MLPH melanophilin
MPZ myelin protein zero
MT-TK tRNA
MT-TL1 tRNA
MYD88 myeloid differentiation primary response 88
MYH11 myosin, heavy chain 11, smooth muscle
MYO5A myosin VA (heavy chain 12, myoxin)
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NME1 NME/NM23 nucleoside diphosphate kinase 1
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH2 notch 2
NOTCH3 notch 3
NPHP1 nephronophthisis 1 (juvenile)
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
OAT ornithine aminotransferase
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORAI1 ORAI calcium release-activated calcium modulator 1
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
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
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
PHYH phytanoyl-CoA 2-hydroxylase
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)
PITX2 paired-like homeodomain 2
PNPLA6 patatin-like phospholipase domain containing 6
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
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
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)
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
RAB18 RAB18, 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)
RAD51C RAD51 paralog C
RB1 retinoblastoma 1
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RNF216 ring finger protein 216
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
RS1 retinoschisin 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
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
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
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SHH sonic hedgehog
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC45A2 solute carrier family 45, member 2
SLC7A14 solute carrier family 7, member 14
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
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
SOX2 SRY (sex determining region Y)-box 2
SPATA7 spermatogenesis associated 7
SRD5A3 steroid 5 alpha-reductase 3
STIM1 stromal interaction molecule 1
SUFU suppressor of fused homolog (Drosophila)
TBC1D20 TBC1 domain family, member 20
TBL2 transducin (beta)-like 2
TBX22 T-box 22
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TENM3 teneurin transmembrane protein 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
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
TMEM98 transmembrane protein 98
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TREX1 three prime repair exonuclease 1
TRIM37 tripartite motif containing 37
TRNE
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
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
UROC1 urocanate hydratase 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VCAN versican
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX2 visual system homeobox 2
WDPCP WD repeat containing planar cell polarity effector
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT10B wingless-type MMTV integration site family, member 10B
WNT3 wingless-type MMTV integration site family, member 3
WT1 Wilms tumor 1
YAP1 Yes-associated protein 1
ZEB2 zinc finger E-box binding homeobox 2
ZNF423 zinc finger protein 423
ZNF513 zinc finger protein 513