microphthalmia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An eye disease where one or both eyeballs are abnormally small. (Human Disease Ontology, DOID_10629)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001297
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Genes

127 gene mutations causing the microphthalmia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABI2 abl-interactor 2
ADAM17 ADAM metallopeptidase domain 17
AGPS alkylglycerone phosphate synthase
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ARHGAP35 Rho GTPase activating protein 35
ASXL1 additional sex combs like transcriptional regulator 1
ATF4 activating transcription factor 4
ATOX1 antioxidant 1 copper chaperone
B9D1 B9 protein domain 1
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BRD4 bromodomain containing 4
CASP3 caspase 3, apoptosis-related cysteine peptidase
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CDKN2A cyclin-dependent kinase inhibitor 2A
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CRYAA crystallin, alpha A
CRYAB crystallin, alpha B
CRYBA1 crystallin, beta A1
CRYBB2 crystallin, beta B2
CRYGA crystallin, gamma A
CRYGC crystallin, gamma C
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DNAH11 dynein, axonemal, heavy chain 11
DNM2 dynamin 2
DSC1 desmocollin 1
EGFR epidermal growth factor receptor
EHD1 EH-domain containing 1
EP300 E1A binding protein p300
FANCA Fanconi anemia, complementation group A
FANCD2 Fanconi anemia, complementation group D2
FAT1 FAT atypical cadherin 1
FGF10 fibroblast growth factor 10
FH fumarate hydratase
FIGN fidgetin
FKBP8 FK506 binding protein 8, 38kDa
FOXC1 forkhead box C1
FOXE3 forkhead box E3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FRS2 fibroblast growth factor receptor substrate 2
FUZ fuzzy planar cell polarity protein
GAS1 growth arrest-specific 1
GJA8 gap junction protein, alpha 8, 50kDa
GJE1 gap junction protein, epsilon 1, 23kDa
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
GRIP1 glutamate receptor interacting protein 1
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HESX1 HESX homeobox 1
HHAT hedgehog acyltransferase
HIP1 huntingtin interacting protein 1
HMX1 H6 family homeobox 1
HSF4 heat shock transcription factor 4
HSPG2 heparan sulfate proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INTU inturned planar cell polarity protein
KAT6B K(lysine) acetyltransferase 6B
KIF7 kinesin family member 7
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LIM2 lens intrinsic membrane protein 2, 19kDa
LMX1B LIM homeobox transcription factor 1, beta
LRP2 low density lipoprotein receptor-related protein 2
LRP6 low density lipoprotein receptor-related protein 6
MAB21L1 mab-21-like 1 (C. elegans)
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MIP major intrinsic protein of lens fiber
MITF microphthalmia-associated transcription factor
MKS1 Meckel syndrome, type 1
MSX2 msh homeobox 2
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NF1 neurofibromin 1
NOTCH2 notch 2
OTX2 orthodenticle homeobox 2
PAH phenylalanine hydroxylase
PAX6 paired box 6
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PDGFB platelet-derived growth factor beta polypeptide
PGAP1 post-GPI attachment to proteins 1
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRSS56 protease, serine, 56
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL3 poliovirus receptor-related 3
PXDN peroxidasin
PYGO2 pygopus family PHD finger 2
RAX retina and anterior neural fold homeobox
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RERE arginine-glutamic acid dipeptide (RE) repeats
RPGRIP1L RPGRIP1-like
RPS7 ribosomal protein S7
RYK receptor-like tyrosine kinase
SCRIB scribbled planar cell polarity protein
SFN stratifin
SHH sonic hedgehog
SIRT1 sirtuin 1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLX4 SLX4 structure-specific endonuclease subunit
SMOC1 SPARC related modular calcium binding 1
SOX1 SRY (sex determining region Y)-box 1
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SPNS2 spinster homolog 2 (Drosophila)
STRA6 stimulated by retinoic acid 6
TBC1D20 TBC1 domain family, member 20
TBC1D32 TBC1 domain family, member 32
TCTN2 tectonic family member 2
TGFA transforming growth factor, alpha
THBS1 thrombospondin 1
TKT transketolase
TMEM107 transmembrane protein 107
TMEM231 transmembrane protein 231
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1
TWSG1 twisted gastrulation BMP signaling modulator 1
VAX2 ventral anterior homeobox 2
VSX2 visual system homeobox 2
ZIC5 Zic family member 5