Congenital Keratoglobus Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0344530
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Genes

46 genes associated with the disease Congenital Keratoglobus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CHRDL1 chordin-like 1
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL8A1 collagen, type VIII, alpha 1
COL8A2 collagen, type VIII, alpha 2
ELN elastin
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR2 fibroblast growth factor receptor 2
FKRP fukutin related protein
FKTN fukutin
GMPPB GDP-mannose pyrophosphorylase B
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
KIFBP kinesin family binding protein
LARGE like-glycosyltransferase
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LTBP2 latent transforming growth factor beta binding protein 2
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NSD2 nuclear receptor binding SET domain protein 2
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PRDM5 PR domain containing 5
RFC2 replication factor C (activator 1) 2, 40kDa
RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD1 SMAD family member 1
TBL2 transducin (beta)-like 2
TEK TEK tyrosine kinase, endothelial
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZNF469 zinc finger protein 469