Cystinosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C4316899
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Genes

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

Symbol Name
APRT adenine phosphoribosyltransferase
CASP1 caspase 1, apoptosis-related cysteine peptidase
CCL2 chemokine (C-C motif) ligand 2
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
IFNG interferon, gamma
IL10 interleukin 10
IL18 interleukin 18
IL1B interleukin 1, beta
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)
LDLR low density lipoprotein receptor
LGALS3 lectin, galactoside-binding, soluble, 3
LRP2 low density lipoprotein receptor-related protein 2
MFAP1 microfibrillar-associated protein 1
NAGLU N-acetylglucosaminidase, alpha
NBAS neuroblastoma amplified sequence
NLRP2 NLR family, pyrin domain containing 2
PQLC2 PQ loop repeat containing 2
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PTH parathyroid hormone
RAB11A RAB11A, member RAS oncogene family
RAB27A RAB27A, member RAS oncogene family
RAB7A RAB7A, member RAS oncogene family
RAB7B RAB7B, member RAS oncogene family
RILP Rab interacting lysosomal protein
SCN7A sodium channel, voltage gated, type VII alpha subunit
TFEB transcription factor EB
TRPV1 transient receptor potential cation channel, subfamily V, member 1
UNC13D unc-13 homolog D (C. elegans)
YBX3 Y box binding protein 3