focal segmental glomerulosclerosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0000097
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Genes

19 genes associated with the focal segmental glomerulosclerosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTN4 actinin, alpha 4
APOL1 apolipoprotein L, 1
CD2AP CD2-associated protein
CLCN5 chloride channel, voltage-sensitive 5
COQ6 coenzyme Q6 monooxygenase
G6PC glucose-6-phosphatase, catalytic subunit
INF2 inverted formin, FH2 and WH2 domain containing
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
MYO1E myosin IE
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PAX2 paired box 2
PLCE1 phospholipase C, epsilon 1
PTPRO protein tyrosine phosphatase, receptor type, O
REN renin
SCARB2 scavenger receptor class B, member 2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TRPC6 transient receptor potential cation channel, subfamily C, member 6
WT1 Wilms tumor 1