abnormal amino acid level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group (Mammalian Phenotype Ontology, MP_0005332)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005332
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Genes

205 gene mutations causing the abnormal amino acid level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACADL acyl-CoA dehydrogenase, long chain
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
ACE angiotensin I converting enzyme
ADCY6 adenylate cyclase 6
ADORA1 adenosine A1 receptor
ADORA3 adenosine A3 receptor
AGA aspartylglucosaminidase
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGXT2 alanine--glyoxylate aminotransferase 2
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
AQP11 aquaporin 11
AR androgen receptor
ARG1 arginase 1
ARG2 arginase 2
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATG5 autophagy related 5
ATG7 autophagy related 7
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
BCKDK branched chain ketoacid dehydrogenase kinase
BCL2 B-cell CLL/lymphoma 2
BDKRB2 bradykinin receptor B2
BHMT betaine--homocysteine S-methyltransferase
BSND barttin CLCNK-type chloride channel accessory beta subunit
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CBX6 chromobox homolog 6
CCNI cyclin I
CCR2 chemokine (C-C motif) receptor 2
CD2AP CD2-associated protein
CD320 CD320 molecule
CD44 CD44 molecule (Indian blood group)
CDO1 cysteine dioxygenase type 1
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CISD2 CDGSH iron sulfur domain 2
CLCN5 chloride channel, voltage-sensitive 5
COL18A1 collagen, type XVIII, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
CRH corticotropin releasing hormone
CTH cystathionine gamma-lyase
CTNS cystinosin, lysosomal cystine transporter
CXCR3 chemokine (C-X-C motif) receptor 3
CYBB cytochrome b-245, beta polypeptide
CYS1 cystin 1
DAO D-amino-acid oxidase
DBT dihydrolipoamide branched chain transacylase E2
DCTN1 dynactin 1
DDAH1 dimethylarginine dimethylaminohydrolase 1
DDO D-aspartate oxidase
DNASE1 deoxyribonuclease I
EGFR epidermal growth factor receptor
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
ERCC2 excision repair cross-complementation group 2
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FOLR1 folate receptor 1 (adult)
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GAMT guanidinoacetate N-methyltransferase
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GCDH glutaryl-CoA dehydrogenase
GCLM glutamate-cysteine ligase, modifier subunit
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GGT1 gamma-glutamyltransferase 1
GJB6 gap junction protein, beta 6, 30kDa
GLIS2 GLIS family zinc finger 2
GNMT glycine N-methyltransferase
GPR107 G protein-coupled receptor 107
GPR22 G protein-coupled receptor 22
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HAL histidine ammonia-lyase
HGD homogentisate 1,2-dioxygenase
HNF1A HNF1 homeobox A
HPD 4-hydroxyphenylpyruvate dioxygenase
HRAS Harvey rat sarcoma viral oncogene homolog
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
IKZF3 IKAROS family zinc finger 3 (Aiolos)
IL10 interleukin 10
IL1R1 interleukin 1 receptor, type I
ITGA1 integrin, alpha 1
JAK1 Janus kinase 1
KLF15 Kruppel-like factor 15
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LDLR low density lipoprotein receptor
LGMN legumain
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LIAS lipoic acid synthetase
LMNB2 lamin B2
LOC102724788 proline dehydrogenase 1, mitochondrial
LPAR1 lysophosphatidic acid receptor 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MARCH9 membrane-associated ring finger (C3HC4) 9
MAT1A methionine adenosyltransferase I, alpha
MEP1A meprin A, alpha (PABA peptide hydrolase)
MEP1B meprin A, beta
MOCS1 molybdenum cofactor synthesis 1
MPV17 MpV17 mitochondrial inner membrane protein
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUT methylmalonyl CoA mutase
MYO10 myosin X
MYO7A myosin VIIA
NAGS N-acetylglutamate synthase
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEK8 NIMA-related kinase 8
NFE2L2 nuclear factor, erythroid 2-like 2
NOS2 nitric oxide synthase 2, inducible
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
OAT ornithine aminotransferase
OTC ornithine carbamoyltransferase
PAH phenylalanine hydroxylase
PANK1 pantothenate kinase 1
PARP1 poly (ADP-ribose) polymerase 1
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PEMT phosphatidylethanolamine N-methyltransferase
PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRKCZ protein kinase C, zeta
PRMT1 protein arginine methyltransferase 1
PTGIS prostaglandin I2 (prostacyclin) synthase
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTS 6-pyruvoyltetrahydropterin synthase
QTRT1 queuine tRNA-ribosyltransferase 1
REN renin
RGN regucalcin
RNASE10 ribonuclease, RNase A family, 10 (non-active)
RNF10 ring finger protein 10
RRAGA Ras-related GTP binding A
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SCTR secretin receptor
SELK selenoprotein K
SETMAR SET domain and mariner transposase fusion gene
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
SLC16A10 solute carrier family 16 (aromatic amino acid transporter), member 10
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC38A10 solute carrier family 38, member 10
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC47A1 solute carrier family 47 (multidrug and toxin extrusion), member 1
SLC4A5 solute carrier family 4 (sodium bicarbonate cotransporter), member 5
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC6A13 solute carrier family 6 (neurotransmitter transporter), member 13
SLC6A18 solute carrier family 6 (neutral amino acid transporter), member 18
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11
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
SMAD3 SMAD family member 3
SPP1 secreted phosphoprotein 1
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SRR serine racemase
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
SYK spleen tyrosine kinase
TDO2 tryptophan 2,3-dioxygenase
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1 transforming growth factor, beta 1
TMEM27 transmembrane protein 27
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TSTA3 tissue specific transplantation antigen P35B
UMOD uromodulin
UNC93B1 unc-93 homolog B1 (C. elegans)
UOX urate oxidase, pseudogene
UPK2 uroplakin 2
UPK3A uroplakin 3A
USP21 ubiquitin specific peptidase 21
USP38 ubiquitin specific peptidase 38
VEGFA vascular endothelial growth factor A
VIM vimentin
WDR83 WD repeat domain 83
WTAP Wilms tumor 1 associated protein
XBP1 X-box binding protein 1
XDH xanthine dehydrogenase