corneal dystrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001131
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Genes

46 genes associated with the corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTSL4 ADAMTS-like 4
AGK acylglycerol kinase
CHRDL1 chordin-like 1
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
COL8A2 collagen, type VIII, alpha 2
CRYAA crystallin, alpha A
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DCN decorin
FBN1 fibrillin 1
FOXC1 forkhead box C1
GJA8 gap junction protein, alpha 8, 50kDa
GLA galactosidase, alpha
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GSN gelsolin
HDAC9 histone deacetylase 9
KRT12 keratin 12, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT3 keratin 3, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MBTPS2 membrane-bound transcription factor peptidase, site 2
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OSMR oncostatin M receptor
PAX6 paired box 6
PIKFYVE phosphoinositide kinase, FYVE finger containing
PITX2 paired-like homeodomain 2
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PRDM5 PR domain containing 5
SAT1 spermidine/spermine N1-acetyltransferase 1
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
TACSTD2 tumor-associated calcium signal transducer 2
TGFB2 transforming growth factor, beta 2
TGFBI transforming growth factor, beta-induced, 68kDa
ZEB1 zinc finger E-box binding homeobox 1
ZNF469 zinc finger protein 469