nephropathy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A urinary system disease that is located_in the kidney. (Human Disease Ontology, DOID_557)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000112
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Genes

66 genes associated with the nephropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
APOA1 apolipoprotein A-I
APRT adenine phosphoribosyltransferase
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CECR1 cat eye syndrome chromosome region, candidate 1
CEP290 centrosomal protein 290kDa
CISD2 CDGSH iron sulfur domain 2
CLDN19 claudin 19
COL7A1 collagen, type VII, alpha 1
CTNS cystinosin, lysosomal cystine transporter
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
FAM20A family with sequence similarity 20, member A
FGA fibrinogen alpha chain
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXI1 forkhead box I1
GLA galactosidase, alpha
HIC1 hypermethylated in cancer 1
HNF1B HNF1 homeobox B
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
LMX1B LIM homeobox transcription factor 1, beta
LYZ lysozyme
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MEFV Mediterranean fever
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NPHP1 nephronophthisis 1 (juvenile)
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PRODH proline dehydrogenase (oxidase) 1
RPGRIP1L RPGRIP1-like
SCARB2 scavenger receptor class B, member 2
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SLC26A4 solute carrier family 26 (anion exchanger), member 4
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TREX1 three prime repair exonuclease 1
TTC21B tetratricopeptide repeat domain 21B
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
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
WT1 Wilms tumor 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZNF423 zinc finger protein 423