renal insufficiency Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000083
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Genes

218 genes associated with the renal insufficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACSL4 acyl-CoA synthetase long-chain family member 4
ADCK4 aarF domain containing kinase 4
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGXT alanine-glyoxylate aminotransferase
AHI1 Abelson helper integration site 1
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
APOA1 apolipoprotein A-I
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSND barttin CLCNK-type chloride channel accessory beta subunit
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CCR6 chemokine (C-C motif) receptor 6
CD151 CD151 molecule (Raph blood group)
CD2AP CD2-associated protein
CEP290 centrosomal protein 290kDa
CEP83 centrosomal protein 83kDa
CFH complement factor H
CFHR5 complement factor H-related 5
CFI complement factor I
CHRM3 cholinergic receptor, muscarinic 3
CISD2 CDGSH iron sulfur domain 2
CLCN5 chloride channel, voltage-sensitive 5
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
COL4A1 collagen, type IV, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COL7A1 collagen, type VII, alpha 1
COX1
COX2
COX3
CPT2 carnitine palmitoyltransferase 2
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DGKE diacylglycerol kinase, epsilon 64kDa
DNASE1L3 deoxyribonuclease I-like 3
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EYA1 EYA transcriptional coactivator and phosphatase 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM20A family with sequence similarity 20, member A
FAM58A family with sequence similarity 58, member A
FAN1 FANCD2/FANCI-associated nuclease 1
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FUZ fuzzy planar cell polarity protein
GATA3 GATA binding protein 3
GLA galactosidase, alpha
GLIS2 GLIS family zinc finger 2
GSN gelsolin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMBS hydroxymethylbilane synthase
HNF1B HNF1 homeobox B
HOXA13 homeobox A13
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPS1 Hermansky-Pudlak syndrome 1
HPSE2 heparanase 2 (inactive)
HRAS Harvey rat sarcoma viral oncogene homolog
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGHV4-34 immunoglobulin heavy variable 4-34
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
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
IQCB1 IQ motif containing B1
IRF5 interferon regulatory factor 5
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCTD1 potassium channel tetramerization domain containing 1
LAMB2 laminin, beta 2 (laminin S)
LCAT lecithin-cholesterol acyltransferase
LDHA lactate dehydrogenase A
LHX1 LIM homeobox 1
LIMK1 LIM domain kinase 1
LIPN lipase, family member N
LMX1B LIM homeobox transcription factor 1, beta
LPIN1 lipin 1
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MEFV Mediterranean fever
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
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
MYD88 myeloid differentiation primary response 88
MYH9 myosin, heavy chain 9, non-muscle
MYO1E myosin IE
ND1
NEK8 NIMA-related kinase 8
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH2 notch 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)
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PEX7 peroxisomal biogenesis factor 7
PGAM2 phosphoglycerate mutase 2 (muscle)
PGK1 phosphoglycerate kinase 1
PHYH phytanoyl-CoA 2-hydroxylase
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLCE1 phospholipase C, epsilon 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PYGM phosphorylase, glycogen, muscle
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
REN renin
RFC2 replication factor C (activator 1) 2, 40kDa
RPGRIP1L RPGRIP1-like
SALL1 spalt-like transcription factor 1
SARS2 seryl-tRNA synthetase 2, mitochondrial
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
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
STAT4 signal transducer and activator of transcription 4
STS steroid sulfatase (microsomal), isozyme S
TBL2 transducin (beta)-like 2
TGM1 transglutaminase 1
TLR4 toll-like receptor 4
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TRNE
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC21B tetratricopeptide repeat domain 21B
UMOD uromodulin
VANGL1 VANGL planar cell polarity protein 1
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60
WFS1 Wolfram syndrome 1 (wolframin)
WT1 Wilms tumor 1
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
ZNF423 zinc finger protein 423