abnormality of the nephron Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A structural anomaly of the nephron. (Human Phenotype Ontology, HP_0012575)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012575
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Genes

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

Symbol Name
ACE angiotensin I converting enzyme
ACP5 acid phosphatase 5, tartrate resistant
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTN4 actinin, alpha 4
ADA adenosine deaminase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
ALDOB aldolase B, fructose-bisphosphate
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALMS1 Alstrom syndrome protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANTXR1 anthrax toxin receptor 1
APOE apolipoprotein E
APOL1 apolipoprotein L, 1
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
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)
CA2 carbonic anhydrase II
CAV1 caveolin 1, caveolae protein, 22kDa
CD2AP CD2-associated protein
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP83 centrosomal protein 83kDa
CFH complement factor H
CFHR5 complement factor H-related 5
CFI complement factor I
CLCN5 chloride channel, voltage-sensitive 5
COG6 component of oligomeric golgi complex 6
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
CPT1A carnitine palmitoyltransferase 1A (liver)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
DGKE diacylglycerol kinase, epsilon 64kDa
DNASE1L3 deoxyribonuclease I-like 3
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FERMT1 fermitin family member 1
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
GBE1 glucan (1,4-alpha-), branching enzyme 1
GLA galactosidase, alpha
GLIS2 GLIS family zinc finger 2
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HNF1B HNF1 homeobox B
IFT122 intraflagellar transport 122
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
INVS inversin
IQCB1 IQ motif containing B1
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
LRP2 low density lipoprotein receptor-related protein 2
MEFV Mediterranean fever
MRPS22 mitochondrial ribosomal protein S22
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
MUT methylmalonyl CoA mutase
MYO1E myosin IE
ND1
NOD2 nucleotide-binding oligomerization domain containing 2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
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
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLCE1 phospholipase C, epsilon 1
PMM2 phosphomannomutase 2
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
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SCARB2 scavenger receptor class B, member 2
SDCCAG8 serologically defined colon cancer antigen 8
SFTPC surfactant protein C
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), 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
TMEM67 transmembrane protein 67
TRNE
TRPC6 transient receptor potential cation channel, subfamily C, member 6
UMOD uromodulin
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WAS Wiskott-Aldrich syndrome
WDR19 WD repeat domain 19
WIPF1 WAS/WASL interacting protein family, member 1
WT1 Wilms tumor 1
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial