abnormality of acid-base homeostasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. (Human Phenotype Ontology, HP_0004360)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004360
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Genes

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

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
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
ACAT1 acetyl-CoA acetyltransferase 1
ACAT2 acetyl-CoA acetyltransferase 2
ACSF3 acyl-CoA synthetase family member 3
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADCK3 aarF domain containing kinase 3
AGK acylglycerol kinase
AGXT alanine-glyoxylate aminotransferase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIP aryl hydrocarbon receptor interacting protein
ALDOB aldolase B, fructose-bisphosphate
ARG1 arginase 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
AUH AU RNA binding protein/enoyl-CoA hydratase
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BOLA3 bolA family member 3
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTD biotinidase
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
CA2 carbonic anhydrase II
CA5A carbonic anhydrase VA, mitochondrial
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
COA5 cytochrome c oxidase assembly factor 5
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ9 coenzyme Q9
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT1A carnitine palmitoyltransferase 1A (liver)
CTNS cystinosin, lysosomal cystine transporter
CUL3 cullin 3
CYC1 cytochrome c-1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
DBT dihydrolipoamide branched chain transacylase E2
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DGUOK deoxyguanosine kinase
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DNM1L dynamin 1-like
DPYS dihydropyrimidinase
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
ELAC2 elaC ribonuclease Z 2
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
ETHE1 ethylmalonic encephalopathy 1
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FASTKD2 FAST kinase domains 2
FBP1 fructose-1,6-bisphosphatase 1
FBXL4 F-box and leucine-rich repeat protein 4
FH fumarate hydratase
FN1 fibronectin 1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
G6PC glucose-6-phosphatase, catalytic subunit
GALT galactose-1-phosphate uridylyltransferase
GCDH glutaryl-CoA dehydrogenase
GCK glucokinase (hexokinase 4)
GFM1 G elongation factor, mitochondrial 1
GK glycerol kinase
GLYCTK glycerate kinase
GSS glutathione synthetase
GYS2 glycogen synthase 2 (liver)
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
HCFC1 host cell factor C1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HPD 4-hydroxyphenylpyruvate dioxygenase
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
INS insulin
INSR insulin receptor
INVS inversin
ISCU iron-sulfur cluster assembly enzyme
IVD isovaleryl-CoA dehydrogenase
JAG1 jagged 1
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KLHL3 kelch-like family member 3
LCT lactase
LDHA lactate dehydrogenase A
LIAS lipoic acid synthetase
LMBRD1 LMBR1 domain containing 1
LRPPRC leucine-rich pentatricopeptide repeat containing
LYRM4 LYR motif containing 4
LYRM7 LYR motif containing 7
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCEE methylmalonyl CoA epimerase
MLYCD malonyl-CoA decarboxylase
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
MPC1 mitochondrial pyruvate carrier 1
MPV17 MpV17 mitochondrial inner membrane protein
MRPL3 mitochondrial ribosomal protein L3
MRPL44 mitochondrial ribosomal protein L44
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTO1 mitochondrial tRNA translation optimization 1
MUT methylmalonyl CoA mutase
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
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
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
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)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEUROG3 neurogenin 3
NFU1 NFU1 iron-sulfur cluster scaffold
NOTCH2 notch 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR3C2 nuclear receptor subfamily 3, group C, member 2
NUBPL nucleotide binding protein-like
OCRL oculocerebrorenal syndrome of Lowe
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
OTC ornithine carbamoyltransferase
OXCT1 3-oxoacid CoA transferase 1
PAH phenylalanine hydroxylase
PAX4 paired box 4
PC pyruvate carboxylase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHB pyruvate dehydrogenase (lipoamide) beta
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PET100 PET100 homolog (S. cerevisiae)
PHKG2 phosphorylase kinase, gamma 2 (testis)
PNPO pyridoxamine 5'-phosphate oxidase
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PUS1 pseudouridylate synthase 1
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
SARS2 seryl-tRNA synthetase 2, mitochondrial
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
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SERAC1 serine active site containing 1
SFXN4 sideroflexin 4
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SURF1 surfeit 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TAZ tafazzin
TK2 thymidine kinase 2, mitochondrial
TMEM70 transmembrane protein 70
TPK1 thiamin pyrophosphokinase 1
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TSFM Ts translation elongation factor, mitochondrial
TUFM Tu translation elongation factor, mitochondrial
TYMP thymidine phosphorylase
UMPS uridine monophosphate synthetase
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UQCRB ubiquinol-cytochrome c reductase binding protein
UQCRC2 ubiquinol-cytochrome c reductase core protein II
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VTI1A vesicle transport through interaction with t-SNAREs 1A
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial