Alport Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. (Human Disease Ontology, DOID_10983)
External Link https://www.disgenet.org/browser/0/1/0/C1567741
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Genes

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

Symbol Name
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACSL4 acyl-CoA synthetase long-chain family member 4
ACVR2A activin A receptor, type IIA
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
B3GAT1 beta-1,3-glucuronyltransferase 1
CASR calcium-sensing receptor
CFH complement factor H
CFHR5 complement factor H-related 5
CHP1 calcineurin-like EF-hand protein 1
CLCN5 chloride channel, voltage-sensitive 5
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COL4A6 collagen, type IV, alpha 6
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ8B coenzyme Q8B
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
DDR1 discoidin domain receptor tyrosine kinase 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
FCGRT Fc fragment of IgG, receptor, transporter, alpha
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IGBP1 immunoglobulin (CD79A) binding protein 1
INF2 inverted formin, FH2 and WH2 domain containing
LAMA5 laminin, alpha 5
LOXL2 lysyl oxidase-like 2
LRPAP1 low density lipoprotein receptor-related protein associated protein 1
MIB1 mindbomb E3 ubiquitin protein ligase 1
MITF microphthalmia-associated transcription factor
MKI67 marker of proliferation Ki-67
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MPV17 MpV17 mitochondrial inner membrane protein
MYH9 myosin, heavy chain 9, non-muscle
NPHP1 nephronophthisis 1 (juvenile)
PAX2 paired box 2
PAX3 paired box 3
PIEZO1 piezo-type mechanosensitive ion channel component 1
REN renin
RHOV ras homolog family member V
SOSTDC1 sclerostin domain containing 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TRPC6 transient receptor potential cation channel, subfamily C, member 6
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
ZEB1 zinc finger E-box binding homeobox 1
ZNF185 zinc finger protein 185 (LIM domain)