Corneal Dystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0521723
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Genes

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

Symbol Name
ACD adrenocortical dysplasia homolog (mouse)
AGBL1 ATP/GTP binding protein-like 1
AGK acylglycerol kinase
ARMC4 armadillo repeat containing 4
BCL2 B-cell CLL/lymphoma 2
C11ORF70 chromosome 11 open reading frame 70
CAT catalase
CCDC103 coiled-coil domain containing 103
CCDC151 coiled-coil domain containing 151
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCNO cyclin O
CDK13 cyclin-dependent kinase 13
CFAP298 cilia and flagella associated protein 298
CHIC2 cysteine-rich hydrophobic domain 2
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CLDN1 claudin 1
CLDN7 claudin 7
COL10A1 collagen, type X, alpha 1
COL17A1 collagen, type XVII, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL8A1 collagen, type VIII, alpha 1
COL8A2 collagen, type VIII, alpha 2
COX2
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CRYAA crystallin, alpha A
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CSRP2BP CSRP2 binding protein
CTSA cathepsin A
CXCL8 chemokine (C-X-C motif) ligand 8
DCN decorin
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF4 dynein axonemal assembly factor 4
DNAAF5 dynein, axonemal, assembly factor 5
DNAH1 dynein, axonemal, heavy chain 1
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAJB13 DnaJ (Hsp40) homolog, subfamily B, member 13
DNAL1 dynein, axonemal, light chain 1
DRC1 dynein regulatory complex subunit 1
DZANK1 double zinc ribbon and ankyrin repeat domains 1
EPYC epiphycan
EXOSC2 exosome component 2
FAP fibroblast activation protein, alpha
FAS Fas cell surface death receptor
FIP1L1 factor interacting with PAPOLA and CPSF1
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GAS2L2 growth arrest-specific 2 like 2
GAS8 growth arrest-specific 8
GCDH glutaryl-CoA dehydrogenase
GCG glucagon
GGT1 gamma-glutamyltransferase 1
GJA8 gap junction protein, alpha 8, 50kDa
GLA galactosidase, alpha
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPR35 G protein-coupled receptor 35
GRHL2 grainyhead-like 2 (Drosophila)
GSN gelsolin
HTRA1 HtrA serine peptidase 1
HYDIN HYDIN, axonemal central pair apparatus protein
IL10 interleukin 10
IL13 interleukin 13
IL2 interleukin 2
IL4 interleukin 4
IL6 interleukin 6
JAG1 jagged 1
JUN jun proto-oncogene
KERA keratocan
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
LOX lysyl oxidase
LOXHD1 lipoxygenase homology domains 1
LRRC56 leucine rich repeat containing 56
LRRC6 leucine rich repeat containing 6
LTF lactotransferrin
LUM lumican
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MATN4 matrilin 4
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein
MLYCD malonyl-CoA decarboxylase
MMRN1 multimerin 1
MPDZ multiple PDZ domain protein
MUC1 mucin 1, cell surface associated
NFE2L2 nuclear factor, erythroid 2-like 2
NME8 NME/NM23 family member 8
NOD2 nucleotide-binding oligomerization domain containing 2
OCLN occludin
ODAD1 outer dynein arm docking complex subunit 1
OFD1 oral-facial-digital syndrome 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OVOL2 ovo-like zinc finger 2
PAX6 paired box 6
PDCD1 programmed cell death 1
PET117 PET117 homolog (S. cerevisiae)
PIH1D3 PIH1 domain containing 3
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POSTN periostin, osteoblast specific factor
PRDM5 PR domain containing 5
PTPRG protein tyrosine phosphatase, receptor type, G
RPGR retinitis pigmentosa GTPase regulator
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH3 radial spoke 3 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
SBK1 SH3 domain binding kinase 1
SECTM1 secreted and transmembrane 1
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SELPLG selectin P ligand
SHH sonic hedgehog
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SOX2 SRY (sex determining region Y)-box 2
SPAG1 sperm associated antigen 1
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
STK36 serine/threonine kinase 36
STS steroid sulfatase (microsomal), isozyme S
TACSTD2 tumor-associated calcium signal transducer 2
TBCD tubulin folding cofactor D
TCF4 transcription factor 4
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBI transforming growth factor, beta-induced, 68kDa
TTC25 tetratricopeptide repeat domain 25
UBIAD1 UbiA prenyltransferase domain containing 1
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae)
VSX1 visual system homeobox 1
WDHD1 WD repeat and HMG-box DNA binding protein 1
WNT7A wingless-type MMTV integration site family, member 7A
ZEB1 zinc finger E-box binding homeobox 1
ZMYND10 zinc finger, MYND-type containing 10
ZNF133 zinc finger protein 133
ZNF143 zinc finger protein 143
ZNF469 zinc finger protein 469