nephrotic syndrome Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Xref MGI. (Human Disease Ontology, DOID_1184)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000100
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Genes

84 genes associated with the nephrotic syndrome phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADA adenosine deaminase
ADCK4 aarF domain containing kinase 4
APOA1 apolipoprotein A-I
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARL6 ADP-ribosylation factor-like 6
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
C3 complement component 3
CASP10 caspase 10, apoptosis-related cysteine peptidase
CEP290 centrosomal protein 290kDa
CHD7 chromodomain helicase DNA binding protein 7
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
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
DCLRE1C DNA cross-link repair 1C
DGKE diacylglycerol kinase, epsilon 64kDa
FGA fibrinogen alpha chain
FN1 fibronectin 1
GATA3 GATA binding protein 3
GLA galactosidase, alpha
GSN gelsolin
IFIH1 interferon induced with helicase C domain 1
IFT27 intraflagellar transport 27
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
INF2 inverted formin, FH2 and WH2 domain containing
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
LAMB2 laminin, beta 2 (laminin S)
LIG4 ligase IV, DNA, ATP-dependent
LMX1B LIM homeobox transcription factor 1, beta
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MEFV Mediterranean fever
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
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-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MYO1E myosin IE
ND1
NLRP3 NLR family, pyrin domain containing 3
NPHP1 nephronophthisis 1 (juvenile)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PAX2 paired box 2
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PLCE1 phospholipase C, epsilon 1
PMM2 phosphomannomutase 2
PRKCD protein kinase C, delta
PTPRO protein tyrosine phosphatase, receptor type, O
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SCARB2 scavenger receptor class B, member 2
SDCCAG8 serologically defined colon cancer antigen 8
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNAP29 synaptosomal-associated protein, 29kDa
TRIM32 tripartite motif containing 32
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TTC8 tetratricopeptide repeat domain 8
WDPCP WD repeat containing planar cell polarity effector
WT1 Wilms tumor 1