abnormality of the glomerulus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A structural anomaly of the glomerulus. (Human Phenotype Ontology, HP_0000095)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000095
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Genes

95 genes associated with the abnormality of the glomerulus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTN4 actinin, alpha 4
ADA adenosine deaminase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALMS1 Alstrom syndrome protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
APOE apolipoprotein E
APOL1 apolipoprotein L, 1
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSND barttin CLCNK-type chloride channel accessory beta subunit
C1QA complement component 1, q subcomponent, A chain
C1QB complement component 1, q subcomponent, B chain
C1QC complement component 1, q subcomponent, C chain
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
CAV1 caveolin 1, caveolae protein, 22kDa
CD2AP CD2-associated protein
CEP83 centrosomal protein 83kDa
CFH complement factor H
CFHR5 complement factor H-related 5
CFI complement factor I
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
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ6 coenzyme Q6 monooxygenase
COX1
COX2
COX3
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DGKE diacylglycerol kinase, epsilon 64kDa
DNASE1L3 deoxyribonuclease I-like 3
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC2 forkhead box C2
G6PC glucose-6-phosphatase, catalytic subunit
GATA3 GATA binding protein 3
GLA galactosidase, alpha
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HNF1B HNF1 homeobox B
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
INF2 inverted formin, FH2 and WH2 domain containing
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
LAMB2 laminin, beta 2 (laminin S)
LMNA lamin A/C
LMNB2 lamin B2
LMX1B LIM homeobox transcription factor 1, beta
LPIN2 lipin 2
MEFV Mediterranean fever
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MUC1 mucin 1, cell surface associated
MYO1E myosin IE
ND1
NOD2 nucleotide-binding oligomerization domain containing 2
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
OCRL oculocerebrorenal syndrome of Lowe
PAX2 paired box 2
PGM3 phosphoglucomutase 3
PLCE1 phospholipase C, epsilon 1
PRKCD protein kinase C, delta
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRO protein tyrosine phosphatase, receptor type, O
REN renin
SCARB2 scavenger receptor class B, member 2
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
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
STAT4 signal transducer and activator of transcription 4
TLR4 toll-like receptor 4
TRNE
TRPC6 transient receptor potential cation channel, subfamily C, member 6
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
WT1 Wilms tumor 1