abnormal renal physiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal functionality of the kidney. (Human Phenotype Ontology, HP_0012211)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012211
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Genes

363 genes associated with the abnormal renal physiology 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
ACE angiotensin I converting enzyme
ACSL4 acyl-CoA synthetase long-chain family member 4
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADCK4 aarF domain containing kinase 4
AGGF1 angiogenic factor with G patch and FHA domains 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGXT alanine-glyoxylate aminotransferase
AHI1 Abelson helper integration site 1
AIP aryl hydrocarbon receptor interacting protein
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
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
AQP2 aquaporin 2 (collecting duct)
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARL6 ADP-ribosylation factor-like 6
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
ATP7B ATPase, Cu++ transporting, beta polypeptide
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
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
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
C1QA complement component 1, q subcomponent, A chain
C1QB complement component 1, q subcomponent, B chain
C1QC complement component 1, q subcomponent, C chain
C1R complement component 1, r subcomponent
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
CA2 carbonic anhydrase II
CARD9 caspase recruitment domain family, member 9
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
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
CECR1 cat eye syndrome chromosome region, candidate 1
CEP290 centrosomal protein 290kDa
CEP83 centrosomal protein 83kDa
CFH complement factor H
CFHR5 complement factor H-related 5
CFI complement factor I
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
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
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
COA5 cytochrome c oxidase assembly factor 5
COL3A1 collagen, type III, alpha 1
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
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ6 coenzyme Q6 monooxygenase
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCLRE1C DNA cross-link repair 1C
DGKE diacylglycerol kinase, epsilon 64kDa
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
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
ENG endoglin
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
FASTKD2 FAST kinase domains 2
FBXL4 F-box and leucine-rich repeat protein 4
FGA fibrinogen alpha chain
FGF10 fibroblast growth factor 10
FGF23 fibroblast growth factor 23
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXI1 forkhead box I1
FUZ fuzzy planar cell polarity protein
G6PC glucose-6-phosphatase, catalytic subunit
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GATA3 GATA binding protein 3
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDF2 growth differentiation factor 2
GLA galactosidase, alpha
GLIS2 GLIS family zinc finger 2
GSN gelsolin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBB hemoglobin, beta
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HIC1 hypermethylated in cancer 1
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
HMOX1 heme oxygenase 1
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
IFIH1 interferon induced with helicase C domain 1
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
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
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL23R interleukin 23 receptor
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 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
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
JAG1 jagged 1
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCTD1 potassium channel tetramerization domain containing 1
KL klotho
LAMB2 laminin, beta 2 (laminin S)
LCAT lecithin-cholesterol acyltransferase
LDHA lactate dehydrogenase A
LHX1 LIM homeobox 1
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPN lipase, family member N
LMNB2 lamin B2
LMX1B LIM homeobox transcription factor 1, beta
LPIN1 lipin 1
LPIN2 lipin 2
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MEFV Mediterranean fever
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
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
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PC pyruvate carboxylase
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PET100 PET100 homolog (S. cerevisiae)
PEX19 peroxisomal biogenesis factor 19
PEX7 peroxisomal biogenesis factor 7
PGAM2 phosphoglycerate mutase 2 (muscle)
PGK1 phosphoglycerate kinase 1
PGM3 phosphoglucomutase 3
PHEX phosphate regulating endopeptidase homolog, X-linked
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
PLG plasminogen
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
POU6F2 POU class 6 homeobox 2
PRKCD protein kinase C, delta
PRODH proline dehydrogenase (oxidase) 1
PROKR2 prokineticin receptor 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRO protein tyrosine phosphatase, receptor type, O
PYGM phosphorylase, glycogen, muscle
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
REN renin
RFC2 replication factor C (activator 1) 2, 40kDa
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
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
SDCCAG8 serologically defined colon cancer antigen 8
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
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
SLITRK6 SLIT and NTRK-like family, member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
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
SNAP29 synaptosomal-associated protein, 29kDa
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT4 signal transducer and activator of transcription 4
STS steroid sulfatase (microsomal), isozyme S
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
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
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TRAF3IP2 TRAF3 interacting protein 2
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRNE
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
UMOD uromodulin
UMPS uridine monophosphate synthetase
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
VANGL1 VANGL planar cell polarity protein 1
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
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
XDH xanthine dehydrogenase
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
YAP1 Yes-associated protein 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZNF423 zinc finger protein 423