abnormality of urine homeostasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the composition of urine or the levels of its components. (Human Phenotype Ontology, HP_0003110)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003110
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Genes

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

Symbol Name
AASS aminoadipate-semialdehyde synthase
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACAD9 acyl-CoA dehydrogenase family, member 9
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACSF3 acyl-CoA synthetase family member 3
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTN4 actinin, alpha 4
ACVRL1 activin A receptor type II-like 1
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
AGK acylglycerol kinase
AGXT alanine-glyoxylate aminotransferase
ALDH4A1 aldehyde dehydrogenase 4 family, member A1
ALDOB aldolase B, fructose-bisphosphate
ALPL alkaline phosphatase, liver/bone/kidney
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
AMN amnion associated transmembrane protein
AMT aminomethyltransferase
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APOA1 apolipoprotein A-I
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
ARG1 arginase 1
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARSB arylsulfatase B
ASL argininosuccinate lyase
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
AVPR2 arginine vasopressin receptor 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTD biotinidase
CAMKMT calmodulin-lysine N-methyltransferase
CARD9 caspase recruitment domain family, member 9
CASR calcium-sensing receptor
CBS cystathionine-beta-synthase
CD2AP CD2-associated protein
CD320 CD320 molecule
CD59 CD59 molecule, complement regulatory protein
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CFH complement factor H
CFHR5 complement factor H-related 5
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
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
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)
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT2 carnitine palmitoyltransferase 2
CTH cystathionine gamma-lyase
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DGKE diacylglycerol kinase, epsilon 64kDa
DGUOK deoxyguanosine kinase
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLD dihydrolipoamide dehydrogenase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNASE1L3 deoxyribonuclease I-like 3
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
ELN elastin
ENG endoglin
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
ETHE1 ethylmalonic encephalopathy 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAN1 FANCD2/FANCI-associated nuclease 1
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FASTKD2 FAST kinase domains 2
FGA fibrinogen alpha chain
FGF23 fibroblast growth factor 23
FH fumarate hydratase
FKRP fukutin related protein
FMO3 flavin containing monooxygenase 3
FN1 fibronectin 1
FOXC2 forkhead box C2
FTCD formimidoyltransferase cyclodeaminase
FUCA1 fucosidase, alpha-L- 1, tissue
FXYD2 FXYD domain containing ion transport regulator 2
G6PC glucose-6-phosphatase, catalytic subunit
GALE UDP-galactose-4-epimerase
GALNS galactosamine (N-acetyl)-6-sulfatase
GALT galactose-1-phosphate uridylyltransferase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA3 GATA binding protein 3
GATA6 GATA binding protein 6
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GBA glucosidase, beta, acid
GCDH glutaryl-CoA dehydrogenase
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDF2 growth differentiation factor 2
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLYCTK glycerate kinase
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBB hemoglobin, beta
HCFC1 host cell factor C1
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMBS hydroxymethylbilane synthase
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HMOX1 heme oxygenase 1
HNF1B HNF1 homeobox B
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HYAL1 hyaluronoglucosaminidase 1
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
INF2 inverted formin, FH2 and WH2 domain containing
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
ISCU iron-sulfur cluster assembly enzyme
ITGA8 integrin, alpha 8
IVD isovaleryl-CoA dehydrogenase
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
KIF1B kinesin family member 1B
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMB2 laminin, beta 2 (laminin S)
LCAT lecithin-cholesterol acyltransferase
LDHA lactate dehydrogenase A
LIMK1 LIM domain kinase 1
LMBRD1 LMBR1 domain containing 1
LMNB2 lamin B2
LMX1B LIM homeobox transcription factor 1, beta
LPIN1 lipin 1
LPIN2 lipin 2
LRP2 low density lipoprotein receptor-related protein 2
LYZ lysozyme
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCEE methylmalonyl CoA epimerase
MEFV Mediterranean fever
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPC1 mitochondrial pyruvate carrier 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-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUC1 mucin 1, cell surface associated
MUT methylmalonyl CoA mutase
MYH9 myosin, heavy chain 9, non-muscle
MYO1E myosin IE
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
ND1
NEU1 sialidase 1 (lysosomal sialidase)
NIPBL Nipped-B homolog (Drosophila)
NME1 NME/NM23 nucleoside diphosphate kinase 1
NPHP1 nephronophthisis 1 (juvenile)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NT5C3A 5'-nucleotidase, cytosolic IIIA
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OTC ornithine carbamoyltransferase
OXCT1 3-oxoacid CoA transferase 1
PAH phenylalanine hydroxylase
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX2 paired box 2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2 (muscle)
PGK1 phosphoglycerate kinase 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PLCE1 phospholipase C, epsilon 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PMM2 phosphomannomutase 2
PNP purine nucleoside phosphorylase
POLG polymerase (DNA directed), gamma
POU6F2 POU class 6 homeobox 2
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PREPL prolyl endopeptidase-like
PRODH proline dehydrogenase (oxidase) 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRTN3 proteinase 3
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTH1R parathyroid hormone 1 receptor
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN3 protein tyrosine phosphatase, non-receptor type 3
PTPRO protein tyrosine phosphatase, receptor type, O
PYGM phosphorylase, glycogen, muscle
RAB40AL RAB40A, member RAS oncogene family-like
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
SARS2 seryl-tRNA synthetase 2, mitochondrial
SCARB2 scavenger receptor class B, member 2
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SERAC1 serine active site containing 1
SGSH N-sulfoglucosamine sulfohydrolase
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC16A12 solute carrier family 16, member 12
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SLITRK6 SLIT and NTRK-like family, member 6
SMAD4 SMAD family member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNAP29 synaptosomal-associated protein, 29kDa
SPINK5 serine peptidase inhibitor, Kazal type 5
SQSTM1 sequestosome 1
STAR steroidogenic acute regulatory protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STX16 syntaxin 16
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAT tyrosine aminotransferase
TBL2 transducin (beta)-like 2
TCN2 transcobalamin II
TK2 thymidine kinase 2, mitochondrial
TMEM70 transmembrane protein 70
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TRAF3IP2 TRAF3 interacting protein 2
TREX1 three prime repair exonuclease 1
TRNE
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
UMPS uridine monophosphate synthetase
UROS uroporphyrinogen III synthase
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDR19 WD repeat domain 19
WT1 Wilms tumor 1
YAP1 Yes-associated protein 1