aplasia/hypoplasia affecting the eye Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008056
Similar Terms
Downloads & Tools

Genes

246 genes associated with the aplasia/hypoplasia affecting the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTSL4 ADAMTS-like 4
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
ARHGAP31 Rho GTPase activating protein 31
ARL6 ADP-ribosylation factor-like 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATOH7 atonal homolog 7 (Drosophila)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
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
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
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
C12ORF57 chromosome 12 open reading frame 57
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CLIP2 CAP-GLY domain containing linker protein 2
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
CRYAA crystallin, alpha A
CRYBA4 crystallin, beta A4
CSPP1 centrosome and spindle pole associated protein 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DDHD2 DDHD domain containing 2
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLX5 distal-less homeobox 5
DOCK6 dedicator of cytokinesis 6
DPYD dihydropyrimidine dehydrogenase
EBP emopamil binding protein (sterol isomerase)
ELN elastin
ELP4 elongator acetyltransferase complex subunit 4
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
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
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM111A family with sequence similarity 111, 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
FGFR1 fibroblast growth factor receptor 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FNBP4 formin binding protein 4
FOXC1 forkhead box C1
FOXE3 forkhead box E3
FOXL2 forkhead box L2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
GALNTL5 polypeptide N-acetylgalactosaminyltransferase-like 5
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HCCS holocytochrome c synthase
HDAC6 histone deacetylase 6
HDAC9 histone deacetylase 9
HESX1 HESX homeobox 1
HHAT hedgehog acyltransferase
HIRA histone cell cycle regulator
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
IFT27 intraflagellar transport 27
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
ISPD isoprenoid synthase domain containing
KIF11 kinesin family member 11
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIMK1 LIM domain kinase 1
LMX1B LIM homeobox transcription factor 1, beta
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
LZTFL1 leucine zipper transcription factor-like 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MFRP membrane frizzled-related protein
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDP Norrie disease (pseudoglioma)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NOTCH1 notch 1
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
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
PEX7 peroxisomal biogenesis factor 7
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 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-)
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)
POU1F1 POU class 1 homeobox 1
POU6F2 POU class 6 homeobox 2
PQBP1 polyglutamine binding protein 1
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PTCH1 patched 1
PTCH2 patched 2
PTF1A pancreas specific transcription factor, 1a
PXDN peroxidasin
RAB18 RAB18, 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
RARB retinoic acid receptor, beta
RAX retina and anterior neural fold homeobox
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RIPK4 receptor-interacting serine-threonine kinase 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SH2B1 SH2B adaptor protein 1
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SHH sonic hedgehog
SIX3 SIX homeobox 3
SIX6 SIX homeobox 6
SLC38A8 solute carrier family 38, member 8
SLC45A2 solute carrier family 45, member 2
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMOC1 SPARC related modular calcium binding 1
SNAP29 synaptosomal-associated protein, 29kDa
SNX3 sorting nexin 3
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
STIM1 stromal interaction molecule 1
STRA6 stimulated by retinoic acid 6
SUFU suppressor of fused homolog (Drosophila)
TBC1D20 TBC1 domain family, member 20
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN2 tectonic family member 2
TENM3 teneurin transmembrane protein 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TMEM114 transmembrane protein 114
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM98 transmembrane protein 98
TP63 tumor protein p63
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TTC8 tetratricopeptide repeat domain 8
TUBA8 tubulin, alpha 8
TUBB tubulin, beta class I
TUBGCP6 tubulin, gamma complex associated protein 6
TYR tyrosinase
UFD1L ubiquitin fusion degradation 1 like (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX2 visual system homeobox 2
WDPCP WD repeat containing planar cell polarity effector
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