abnormality of fluid regulation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the regulation of body fluids. (Human Phenotype Ontology, HP_0011032)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011032
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACAD9 acyl-CoA dehydrogenase family, member 9
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACAT1 acetyl-CoA acetyltransferase 1
ACSF3 acyl-CoA synthetase family member 3
ACTB actin, beta
ACTG1 actin gamma 1
ACTN4 actinin, alpha 4
ADA adenosine deaminase
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADCK4 aarF domain containing kinase 4
AGGF1 angiogenic factor with G patch and FHA domains 1
AIP aryl hydrocarbon receptor interacting protein
AK2 adenylate kinase 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAS2 5'-aminolevulinate synthase 2
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALOX12B arachidonate 12-lipoxygenase, 12R type
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD55 ankyrin repeat domain 55
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
APOA1 apolipoprotein A-I
APOE apolipoprotein E
AQP2 aquaporin 2 (collecting duct)
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATN1 atrophin 1
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
AVPR2 arginine vasopressin receptor 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BLNK B-cell linker
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSND barttin CLCNK-type chloride channel accessory beta subunit
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CA12 carbonic anhydrase XII
CAMTA1 calmodulin binding transcription activator 1
CCBE1 collagen and calcium binding EGF domains 1
CD247 CD247 molecule
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CDAN1 codanin 1
CEP57 centrosomal protein 57kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL8A2 collagen, type VIII, alpha 2
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DBT dihydrolipoamide branched chain transacylase E2
DCLRE1C DNA cross-link repair 1C
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DUX4 double homeobox 4
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
ELN elastin
ERBB3 erb-b2 receptor tyrosine kinase 3
F12 coagulation factor XII (Hageman factor)
FAS Fas cell surface death receptor
FAT4 FAT atypical cadherin 4
FECH ferrochelatase
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNB filamin B, beta
FLT4 fms-related tyrosine kinase 4
FN1 fibronectin 1
FOXC2 forkhead box C2
FOXG1 forkhead box G1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRG1 FSHD region gene 1
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GLA galactosidase, alpha
GLE1 GLE1 RNA export mediator
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC6 glypican 6
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
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
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC8 histone deacetylase 8
HFE hemochromatosis
HGD homogentisate 1,2-dioxygenase
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
IFT80 intraflagellar transport 80
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1RN interleukin 1 receptor antagonist
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL2RG interleukin 2 receptor, gamma
IL6 interleukin 6
IL7R interleukin 7 receptor
INPPL1 inositol polyphosphate phosphatase-like 1
ITGB4 integrin, beta 4
IVD isovaleryl-CoA dehydrogenase
KAT6B K(lysine) acetyltransferase 6B
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCTD1 potassium channel tetramerization domain containing 1
KIF11 kinesin family member 11
KLF1 Kruppel-like factor 1 (erythroid)
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT2 keratin 2, type II
LAMA3 laminin, alpha 3
LAMB2 laminin, beta 2 (laminin S)
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LBR lamin B receptor
LCT lactase
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPN lipase, family member N
LMX1B LIM homeobox transcription factor 1, beta
LPIN2 lipin 2
LRRC8A leucine rich repeat containing 8 family, member A
LYZ lysozyme
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MCEE methylmalonyl CoA epimerase
MED12 mediator complex subunit 12
MEFV Mediterranean fever
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MKKS McKusick-Kaufman syndrome
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MPI mannose phosphate isomerase
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
MYO1E myosin IE
MYO5B myosin VB
NAGA N-acetylgalactosaminidase, alpha-
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEK1 NIMA-related kinase 1
NEU1 sialidase 1 (lysosomal sialidase)
NEUROG3 neurogenin 3
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
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR3C2 nuclear receptor subfamily 3, group C, member 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NUBPL nucleotide binding protein-like
OCRL oculocerebrorenal syndrome of Lowe
OTC ornithine carbamoyltransferase
PAX2 paired box 2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PEX5 peroxisomal biogenesis factor 5
PHGDH phosphoglycerate dehydrogenase
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKLR pyruvate kinase, liver and RBC
PLCE1 phospholipase C, epsilon 1
PLEC plectin
PMM2 phosphomannomutase 2
PRF1 perforin 1 (pore forming protein)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRSS1 protease, serine, 1 (trypsin 1)
PRTN3 proteinase 3
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRO protein tyrosine phosphatase, receptor type, O
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RANBP2 RAN binding protein 2
RAPSN receptor-associated protein of the synapse
RBM8A RNA binding motif protein 8A
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RYR1 ryanodine receptor 1 (skeletal)
SCARB2 scavenger receptor class B, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
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
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETBP1 SET binding protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SOS1 son of sevenless homolog 1 (Drosophila)
SOX18 SRY (sex determining region Y)-box 18
SPINK1 serine peptidase inhibitor, Kazal type 1
SPINK5 serine peptidase inhibitor, Kazal type 5
STAT4 signal transducer and activator of transcription 4
SUMF1 sulfatase modifying factor 1
TBL2 transducin (beta)-like 2
TCF3 transcription factor 3
TGM1 transglutaminase 1
TMPRSS15 transmembrane protease, serine 15
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TREX1 three prime repair exonuclease 1
TRIP11 thyroid hormone receptor interactor 11
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYK2 tyrosine kinase 2
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UROD uroporphyrinogen decarboxylase
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WISP3 WNT1 inducible signaling pathway protein 3
WNT7A wingless-type MMTV integration site family, member 7A
ZFP57 ZFP57 zinc finger protein