Microphthalmos Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0026010
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Genes

327 genes associated with the disease Microphthalmos in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACTB actin, beta
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALDH6A1 aldehyde dehydrogenase 6 family, member A1
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
ANPEP alanyl (membrane) aminopeptidase
APCDD1 adenomatosis polyposis coli down-regulated 1
APRT adenine phosphoribosyltransferase
ARHGAP31 Rho GTPase activating protein 31
ARHGAP6 Rho GTPase activating protein 6
ARSD arylsulfatase D
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATF4 activating transcription factor 4
ATOH7 atonal homolog 7 (Drosophila)
ATR ATR serine/threonine kinase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BCL2 B-cell CLL/lymphoma 2
BCOR BCL6 corepressor
BEST1 bestrophin 1
BFSP2 beaded filament structural protein 2, phakinin
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
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
C3AR1 complement component 3a receptor 1
CC2D2A coiled-coil and C2 domain containing 2A
CD38 CD38 molecule
CDK2 cyclin-dependent kinase 2
CDK4 cyclin-dependent kinase 4
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CENPF centromere protein F, 350/400kDa
CEP120 centrosomal protein 120kDa
CEP290 centrosomal protein 290kDa
CEP55 centrosomal protein 55kDa
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CIB1 calcium and integrin binding 1 (calmyrin)
CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1
CNKSR1 connector enhancer of kinase suppressor of Ras 1
COL4A1 collagen, type IV, alpha 1
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CRYAA crystallin, alpha A
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYGC crystallin, gamma C
CSPP1 centrosome and spindle pole associated protein 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSK cathepsin K
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DAPK3 death-associated protein kinase 3
DCT dopachrome tautomerase
DES desmin
DLL4 delta-like 4 (Drosophila)
DOCK6 dedicator of cytokinesis 6
DONSON downstream neighbor of SON
DPYD dihydropyrimidine dehydrogenase
DSC3 desmocollin 3
DSEL dermatan sulfate epimerase-like
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
E2F1 E2F transcription factor 1
E2F2 E2F transcription factor 2
E2F4 E2F transcription factor 4, p107/p130-binding
EBP emopamil binding protein (sterol isomerase)
EGR1 early growth response 1
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
FFAR4 free fatty acid receptor 4
FGF2 fibroblast growth factor 2 (basic)
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FH fumarate hydratase
FKRP fukutin related protein
FKTN fukutin
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
FZD1 frizzled class receptor 1
FZD5 frizzled class receptor 5
GATA3 GATA binding protein 3
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GJA3 gap junction protein, alpha 3, 46kDa
GJA8 gap junction protein, alpha 8, 50kDa
GLI1 GLI family zinc finger 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GMPPB GDP-mannose pyrophosphorylase B
GOLPH3 golgi phosphoprotein 3 (coat-protein)
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPNMB glycoprotein (transmembrane) nmb
GRIP1 glutamate receptor interacting protein 1
HCCS holocytochrome c synthase
HDAC6 histone deacetylase 6
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIRA histone cell cycle regulator
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
HRAS Harvey rat sarcoma viral oncogene homolog
HYLS1 hydrolethalus syndrome 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INTU inturned planar cell polarity protein
IPO13 importin 13
ISPD isoprenoid synthase domain containing
JMJD1C jumonji domain containing 1C
KIF11 kinesin family member 11
KIF14 kinesin family member 14
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LARGE like-glycosyltransferase
LIM2 lens intrinsic membrane protein 2, 19kDa
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
MAB21L2 mab-21-like 2 (C. elegans)
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAGEL2 melanoma antigen family L2
MAPK10 mitogen-activated protein kinase 10
MAPRE2 microtubule-associated protein, RP/EB family, member 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEIS1 Meis homeobox 1
MET MET proto-oncogene, receptor tyrosine kinase
MFAP1 microfibrillar-associated protein 1
MFN2 mitofusin 2
MFRP membrane frizzled-related protein
MID1 midline 1
MITF microphthalmia-associated transcription factor
MKS1 Meckel syndrome, type 1
MLANA melan-A
MME membrane metallo-endopeptidase
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MSX2 msh homeobox 2
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYO10 myosin X
MYRF myelin regulatory factor
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDP Norrie disease (pseudoglioma)
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NEO1 neogenin 1
NFE2L1 nuclear factor, erythroid 2-like 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NOTCH1 notch 1
NR2E1 nuclear receptor subfamily 2, group E, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OCRL oculocerebrorenal syndrome of Lowe
OLFM2 olfactomedin 2
OSGEP O-sialoglycoprotein endopeptidase
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
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITX3 paired-like homeodomain 3
PLK4 polo-like kinase 4
PMEL premelanosome protein
PNPLA2 patatin-like phospholipase domain containing 2
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMC proopiomelanocortin
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)
POU3F2 POU class 3 homeobox 2
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha
PQBP1 polyglutamine binding protein 1
PRSS1 protease, serine, 1 (trypsin 1)
PRSS56 protease, serine, 56
PTCH1 patched 1
PTCH2 patched 2
PXDN peroxidasin
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)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RALBP1 ralA binding protein 1
RANBP2 RAN binding protein 2
RARB retinoic acid receptor, beta
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated)
RAX retina and anterior neural fold homeobox
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBM24 RNA binding motif protein 24
RBP4 retinol binding protein 4, plasma
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RFWD3 ring finger and WD repeat domain 3
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RREB1 ras responsive element binding protein 1
RSPO2 R-spondin 2
RTL1 retrotransposon-like 1
S100A1 S100 calcium binding protein A1
S100B S100 calcium binding protein B
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SEC24C SEC24 family member C
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SETD5 SET domain containing 5
SH2B1 SH2B adaptor protein 1
SHH sonic hedgehog
SIN3A SIN3 transcription regulator family member A
SIX3 SIX homeobox 3
SIX6 SIX homeobox 6
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SLX4 SLX4 structure-specific endonuclease subunit
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMG9 SMG9 nonsense mediated mRNA decay factor
SMO smoothened, frizzled class receptor
SMOC1 SPARC related modular calcium binding 1
SNX3 sorting nexin 3
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX6 SRY (sex determining region Y)-box 6
SOX8 SRY (sex determining region Y)-box 8
STAU2 staufen double-stranded RNA binding protein 2
STRA6 stimulated by retinoic acid 6
SUFU suppressor of fused homolog (Drosophila)
SYCE1 synaptonemal complex central element protein 1
SYP synaptophysin
TBC1D20 TBC1 domain family, member 20
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TBR1 T-box, brain, 1
TBX1 T-box 1
TBX15 T-box 15
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN2 tectonic family member 2
TENM1 teneurin transmembrane protein 1
TENM3 teneurin transmembrane protein 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFE3 transcription factor binding to IGHM enhancer 3
TFEB transcription factor EB
TFEC transcription factor EC
TMEM107 transmembrane protein 107
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM98 transmembrane protein 98
TMX3 thioredoxin-related transmembrane protein 3
TNF tumor necrosis factor
TP53 tumor protein p53
TRIP13 thyroid hormone receptor interactor 13
TRPC1 transient receptor potential cation channel, subfamily C, member 1
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TUBA1A tubulin, alpha 1a
TUBB tubulin, beta class I
TUBGCP4 tubulin, gamma complex associated protein 4
TUBGCP6 tubulin, gamma complex associated protein 6
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBE2T ubiquitin-conjugating enzyme E2T
UFD1 ubiquitin recognition factor in ER associated degradation 1
USF1 upstream transcription factor 1
VAX1 ventral anterior homeobox 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX2 visual system homeobox 2
WDPCP WD repeat containing planar cell polarity effector
WDR73 WD repeat domain 73
WNT1 wingless-type MMTV integration site family, member 1
WNT3 wingless-type MMTV integration site family, member 3
WNT7B wingless-type MMTV integration site family, member 7B
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XYLT2 xylosyltransferase II
YAP1 Yes-associated protein 1
YME1L1 YME1-like 1 ATPase
ZEB1 zinc finger E-box binding homeobox 1
ZEB2 zinc finger E-box binding homeobox 2
ZGPAT zinc finger, CCCH-type with G patch domain
ZNF219 zinc finger protein 219
ZNRF3 zinc and ring finger 3