Focal Segmental Glomerulosclerosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. (Experimental Factor Ontology, EFO_0004236)
External Link https://www.disgenet.org/browser/0/1/0/C1842982
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Genes

41 genes associated with the disease Focal Segmental Glomerulosclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACTB actin, beta
ACTN4 actinin, alpha 4
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
ALB albumin
ANLN anillin, actin binding protein
APOL1 apolipoprotein L, 1
ARHGAP24 Rho GTPase activating protein 24
CALB2 calbindin 2
CD2AP CD2-associated protein
CD40LG CD40 ligand
COL4A5 collagen, type IV, alpha 5
CRB2 crumbs family member 2
CXCR4 chemokine (C-X-C motif) receptor 4
E2F3 E2F transcription factor 3
ECT2 epithelial cell transforming 2
EPHB2 EPH receptor B2
HLA-A major histocompatibility complex, class I, A
ILK integrin-linked kinase
INF2 inverted formin, FH2 and WH2 domain containing
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
MAPK1 mitogen-activated protein kinase 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYH1 myosin, heavy chain 1, skeletal muscle, adult
MYH9 myosin, heavy chain 9, non-muscle
MYO1E myosin IE
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PAX2 paired box 2
PLCE1 phospholipase C, epsilon 1
REN renin
RPL17 ribosomal protein L17
RPL23 ribosomal protein L23
SYNPO synaptopodin
TBPL1 TBP-like 1
TLR4 toll-like receptor 4
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TYRP1 tyrosinase-related protein 1
VEGFA vascular endothelial growth factor A