anophthalmia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Absence of the globe or eyeball. (Human Phenotype Ontology, HP_0000528)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001293
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Genes

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

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APLN apelin
ASXL1 additional sex combs like transcriptional regulator 1
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
CC2D2A coiled-coil and C2 domain containing 2A
CENPJ centromere protein J
CHD2 chromodomain helicase DNA binding protein 2
CNBP CCHC-type zinc finger, nucleic acid binding protein
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNNBIP1 catenin, beta interacting protein 1
DKK1 dickkopf WNT signaling pathway inhibitor 1
DNAH11 dynein, axonemal, heavy chain 11
EHD1 EH-domain containing 1
FAT1 FAT atypical cadherin 1
FKBP8 FK506 binding protein 8, 38kDa
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
GLI3 GLI family zinc finger 3
GRIP1 glutamate receptor interacting protein 1
HESX1 HESX homeobox 1
HHEX hematopoietically expressed homeobox
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
JMJD6 jumonji domain containing 6
KIF7 kinesin family member 7
LHX2 LIM homeobox 2
LRP2 low density lipoprotein receptor-related protein 2
LRP6 low density lipoprotein receptor-related protein 6
MITF microphthalmia-associated transcription factor
MKS1 Meckel syndrome, type 1
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
OTX2 orthodenticle homeobox 2
PAX6 paired box 6
PCSK6 proprotein convertase subtilisin/kexin type 6
PDPK1 3-phosphoinositide dependent protein kinase 1
PGAP1 post-GPI attachment to proteins 1
RAB23 RAB23, member RAS oncogene family
RAX retina and anterior neural fold homeobox
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RPGRIP1L RPGRIP1-like
SHH sonic hedgehog
SIX3 SIX homeobox 3
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLX4 SLX4 structure-specific endonuclease subunit
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SNX17 sorting nexin 17
SOX2 SRY (sex determining region Y)-box 2
SP1 Sp1 transcription factor
TBC1D32 TBC1 domain family, member 32
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TWSG1 twisted gastrulation BMP signaling modulator 1
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
ZIC5 Zic family member 5