abnormal corneal stroma morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the lamellated connective tissue of the cornea between the Bowman and Descemet membranes (Mammalian Phenotype Ontology, MP_0005300)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005300
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Genes

32 gene mutations causing the abnormal corneal stroma morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ARNTL aryl hydrocarbon receptor nuclear translocator-like
CEP41 centrosomal protein 41kDa
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CHUK conserved helix-loop-helix ubiquitous kinase
COL5A2 collagen, type V, alpha 2
COL8A1 collagen, type VIII, alpha 1
COL8A2 collagen, type VIII, alpha 2
CSRP2BP CSRP2 binding protein
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DPT dermatopontin
FOXE3 forkhead box E3
GRIP1 glutamate receptor interacting protein 1
GSK3A glycogen synthase kinase 3 alpha
KERA keratocan
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LMX1B LIM homeobox transcription factor 1, beta
LUM lumican
MAN2B1 mannosidase, alpha, class 2B, member 1
MCPH1 microcephalin 1
PAX6 paired box 6
PEX3 peroxisomal biogenesis factor 3
PLG plasminogen
PLTP phospholipid transfer protein
PSAP prosaposin
PXDN peroxidasin
RXRA retinoid X receptor, alpha
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SPNS2 spinster homolog 2 (Drosophila)
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TGFA transforming growth factor, alpha
TGFB2 transforming growth factor, beta 2
ZEB1 zinc finger E-box binding homeobox 1