abnormality of corneal stroma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the stroma of cornea, also known as the substantia propria of cornea. (Human Phenotype Ontology, HP_0011492)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011492
Similar Terms
Downloads & Tools

Genes

138 genes associated with the abnormality of corneal stroma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
AIRE autoimmune regulator
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
APOA1 apolipoprotein A-I
APOB apolipoprotein B
ARSB arylsulfatase B
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CEP57 centrosomal protein 57kDa
CHRDL1 chordin-like 1
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
COL8A2 collagen, type VIII, alpha 2
COX7B cytochrome c oxidase subunit VIIb
CRYAA crystallin, alpha A
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
ELN elastin
ELP4 elongator acetyltransferase complex subunit 4
EPHX2 epoxide hydrolase 2, cytoplasmic
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FERMT1 fermitin family member 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FOXC1 forkhead box C1
FOXE3 forkhead box E3
FUCA1 fucosidase, alpha-L- 1, tissue
GALNS galactosamine (N-acetyl)-6-sulfatase
GBA glucosidase, beta, acid
GJA8 gap junction protein, alpha 8, 50kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HCCS holocytochrome c synthase
HDAC9 histone deacetylase 9
IDUA iduronidase, alpha-L-
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
ISPD isoprenoid synthase domain containing
JAG1 jagged 1
KERA keratocan
KRT12 keratin 12, type I
KRT3 keratin 3, type II
LAMA3 laminin, alpha 3
LARGE like-glycosyltransferase
LCAT lecithin-cholesterol acyltransferase
LDLR low density lipoprotein receptor
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCOLN1 mucolipin 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
NAGA N-acetylgalactosaminidase, alpha-
NDP Norrie disease (pseudoglioma)
NEU1 sialidase 1 (lysosomal sialidase)
NF2 neurofibromin 2 (merlin)
NOD2 nucleotide-binding oligomerization domain containing 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX6 paired box 6
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
RAB23 RAB23, member RAS oncogene family
RFC2 replication factor C (activator 1) 2, 40kDa
RIPK4 receptor-interacting serine-threonine kinase 4
SAT1 spermidine/spermine N1-acetyltransferase 1
SC5D sterol-C5-desaturase
SETBP1 SET binding protein 1
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
STS steroid sulfatase (microsomal), isozyme S
SUMF1 sulfatase modifying factor 1
TAT tyrosine aminotransferase
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TGFB2 transforming growth factor, beta 2
TGFBI transforming growth factor, beta-induced, 68kDa
TMEM5 transmembrane protein 5
TRAPPC2 trafficking protein particle complex 2
TRPV3 transient receptor potential cation channel, subfamily V, member 3
UBIAD1 UbiA prenyltransferase domain containing 1
YAP1 Yes-associated protein 1