Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	189
Gene name Gene Name - the full gene name approved by the HGNC.	Alanine--glyoxylate aminotransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AGXT
Synonyms (NCBI Gene) Gene synonyms aliases	AGT, AGT1, AGXT1, PH1, SPAT, SPT, Ser-PyrAT, TLH6
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q37.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type

Show/Hide all(174)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34116584	C>A,G,T	Likely-benign, likely-pathogenic, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs61729604	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs111742810	T>A	Pathogenic	Splice donor variant
rs111996685	G>A,C	Pathogenic	Splice donor variant
rs112673831	G>A,C,T	Likely-pathogenic	Splice acceptor variant
rs113681235	T>A,G	Pathogenic	Splice donor variant
rs121908520	T>C	Pathogenic	Coding sequence variant, missense variant
rs121908521	C>G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121908522	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs121908523	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908524	T>A	Pathogenic	Coding sequence variant, missense variant
rs121908525	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908526	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908527	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908528	G>A	Pathogenic	Stop gained, coding sequence variant
rs121908529	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908530	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs138025751	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs138584408	T>C	Pathogenic-likely-pathogenic	Initiator codon variant, missense variant
rs180177155	T>A	Pathogenic	Missense variant, coding sequence variant
rs180177156	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177157	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177158	G>A	Pathogenic	Splice donor variant
rs180177160	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177161	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs180177162	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177163	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177164	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177165	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177166	->CA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177168	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177170	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177171	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177172	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs180177173	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs180177177	G>A	Pathogenic	Splice acceptor variant
rs180177180	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs180177181	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177182	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177183	->TCACACT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177184	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177185	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177186	A>G	Pathogenic	Missense variant, coding sequence variant
rs180177187	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177189	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177190	->GAG	Pathogenic	Inframe insertion, coding sequence variant
rs180177191	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs180177193	->TCCTGGTTG	Pathogenic	Inframe insertion, coding sequence variant
rs180177194	TG>AT	Pathogenic	Missense variant, initiator codon variant
rs180177195	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs180177196	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177197	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177198	G>A	Pathogenic	Stop gained, coding sequence variant
rs180177199	G>T	Pathogenic	Missense variant, coding sequence variant
rs180177200	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177201	CC>-,C,CCC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177202	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs180177203	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs180177207	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs180177208	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177210	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177211	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177213	G>T	Pathogenic	Missense variant, initiator codon variant
rs180177214	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177215	TGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs180177217	G>C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs180177219	A>G	Pathogenic	Splice acceptor variant
rs180177220	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177221	GCTGCTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177222	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177223	T>G	Pathogenic	Missense variant, coding sequence variant
rs180177224	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177225	C>A,T	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs180177227	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177230	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs180177231	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177232	C>A,G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, synonymous variant
rs180177233	CC>GA	Pathogenic	Missense variant, coding sequence variant
rs180177234	G>A	Pathogenic	Splice acceptor variant
rs180177235	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs180177236	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177237	CATCCC>ATCGGT	Pathogenic	Missense variant, coding sequence variant
rs180177238	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177239	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177240	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177241	C>-,CC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177243	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177244	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177245	A>G	Pathogenic	Splice acceptor variant
rs180177246	C>A	Pathogenic	Missense variant, coding sequence variant
rs180177247	C>A	Pathogenic	Stop gained, coding sequence variant
rs180177248	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177250	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177251	TCCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177252	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177253	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177254	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177255	AAGT>-	Pathogenic	Coding sequence variant, splice donor variant
rs180177256	G>C	Pathogenic	Intron variant
rs180177257	->T	Pathogenic	Frameshift variant, coding sequence variant
rs180177258	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177259	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs180177261	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177262	T>G	Pathogenic	Missense variant, coding sequence variant
rs180177263	G>A	Pathogenic	Stop gained, coding sequence variant
rs180177264	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177265	G>A,C	Pathogenic	Splice donor variant
rs180177267	G>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs180177268	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177269	T>A	Pathogenic	Missense variant, coding sequence variant
rs180177270	CATCA>ACAATCTCAG	Pathogenic	Frameshift variant, coding sequence variant
rs180177271	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177272	A>C	Pathogenic	Missense variant, coding sequence variant
rs180177273	AG>-,AGAG	Pathogenic	Frameshift variant, coding sequence variant
rs180177275	->A	Pathogenic	Frameshift variant, coding sequence variant
rs180177276	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177278	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177279	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177281	G>A,T	Pathogenic	Splice donor variant
rs180177284	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177285	G>C	Likely-pathogenic	Splice acceptor variant
rs180177286	C>A,G,T	Pathogenic	Intron variant
rs180177287	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177288	G>T	Pathogenic	Stop gained, coding sequence variant
rs180177289	GC>CG	Pathogenic	Missense variant, coding sequence variant
rs180177291	GCG>-	Pathogenic	Inframe deletion, coding sequence variant
rs180177292	T>C,G	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs180177293	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177294	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs180177295	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177296	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177297	G>T	Pathogenic	Splice donor variant
rs180177298	G>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs180177299	C>T	Pathogenic	Missense variant, coding sequence variant
rs180177300	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177301	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177302	CTGGCT>-	Pathogenic	Inframe indel, coding sequence variant
rs180177303	A>C,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs369664123	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs376844297	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs536352238	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs569643246	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs756437332	C>G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs767586362	G>A	Pathogenic	Coding sequence variant, missense variant
rs786204545	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs796052057	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs796052058	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052059	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052060	G>T	Pathogenic	Coding sequence variant, missense variant
rs796052061	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052062	G>A	Pathogenic	Coding sequence variant, missense variant
rs796052063	T>C	Pathogenic	Coding sequence variant, missense variant
rs796052064	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs796052065	G>A	Pathogenic	Coding sequence variant, missense variant
rs796052066	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052067	G>T	Pathogenic	Splice donor variant
rs796052068	A>G	Pathogenic	Splice acceptor variant
rs796052069	->A	Pathogenic	Frameshift variant, coding sequence variant
rs796052070	GGAGCCCGAGTGCACCCGATGACCA>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs796052071	CCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs796052072	TG>AA	Pathogenic	Coding sequence variant, missense variant
rs796052073	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs796052074	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052075	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057516896	AAGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553648488	->CTGCA	Pathogenic	Frameshift variant, coding sequence variant
rs1553648493	G>A	Likely-pathogenic	Splice donor variant
rs1553648568	T>A	Likely-pathogenic	Splice donor variant
rs1553648931	CCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGA	Pathogenic	Splice donor variant, intron variant, coding sequence variant, splice acceptor variant
rs1553648979	AGA>-,AGAAGA	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs1553649007	T>G	Likely-pathogenic	Splice donor variant
rs1553649375	AG>-	Likely-pathogenic	Splice acceptor variant
rs1575707182	C>T	Pathogenic	Stop gained, coding sequence variant
rs1575711244	G>T	Pathogenic	Stop gained, coding sequence variant

Show/Hide all(21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT459353	hsa-miR-3926	PAR-CLIP	23592263
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT459352	hsa-miR-548s	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	27292025
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	27292025
MIRT459353	hsa-miR-3926	PAR-CLIP	27292025
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	27292025
MIRT459352	hsa-miR-548s	PAR-CLIP	27292025
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	27292025
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT459353	hsa-miR-3926	PAR-CLIP	23592263
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT459352	hsa-miR-548s	PAR-CLIP	23592263

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004760	Function	L-serine-pyruvate transaminase activity	IBA
GO:0004760	Function	L-serine-pyruvate transaminase activity	IDA	10347152
GO:0004760	Function	L-serine-pyruvate transaminase activity	IEA
GO:0005515	Function	Protein binding	IPI	15911627, 22529745, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	1703535, 3709805, 7813517, 9053548, 10960483, 12777626
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	IDA	3418107, 22198249
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006563	Process	L-serine metabolic process	IDA	10347152
GO:0007219	Process	Notch signaling pathway	IEA
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IBA
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IDA	10960483, 16971151, 17696873, 18492492, 22198249
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IEA
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IMP	12777626
GO:0008453	Function	Alanine-glyoxylate transaminase activity	TAS	2363689
GO:0008483	Function	Transaminase activity	IDA	18492492, 20133649
GO:0008483	Function	Transaminase activity	IEA
GO:0009436	Process	Glyoxylate catabolic process	IDA	22198249
GO:0016597	Function	Amino acid binding	IDA	18492492
GO:0016740	Function	Transferase activity	IEA
GO:0019265	Process	Glycine biosynthetic process, by transamination of glyoxylate	IBA
GO:0019265	Process	Glycine biosynthetic process, by transamination of glyoxylate	IDA	22198249
GO:0019448	Process	L-cysteine catabolic process	IDA	18492492
GO:0030170	Function	Pyridoxal phosphate binding	IDA	17696873, 20133649
GO:0030170	Function	Pyridoxal phosphate binding	IMP	15802217
GO:0042802	Function	Identical protein binding	IPI	12899834, 22529745, 32296183
GO:0042803	Function	Protein homodimerization activity	IDA	10960483, 12777626, 12899834, 16971151, 20133649
GO:0042853	Process	L-alanine catabolic process	IDA	17696873, 18492492, 22198249
GO:0046487	Process	Glyoxylate metabolic process	IDA	12777626
GO:0046487	Process	Glyoxylate metabolic process	IEA
GO:0046487	Process	Glyoxylate metabolic process	IMP	3709805
GO:0046724	Process	Oxalic acid secretion	IEA

MIM	HGNC	e!Ensembl
604285	341	ENSG00000172482

Protein

UniProt ID

P21549

Protein name

Alanine--glyoxylate aminotransferase (AGT) (EC 2.6.1.44) (Serine--pyruvate aminotransferase) (SPT) (EC 2.6.1.51)

Protein function

Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:23229545, PubMed:24055001, PubMed:26149463). Also catalyzes the tr

PDB

1H0C , 1J04 , 2YOB , 3R9A , 4CBR , 4CBS , 4I8A , 4KXK , 4KYO , 5F9S , 5HHY , 5LUC , 5OFY , 5OG0 , 6RV0 , 6RV1 , 7NS7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00266	Aminotran_5	23 → 376	Aminotransferase class-V	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver.

Sequence

MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEI
KEGIQYVFQTRNPLTLVISGSGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIG
ARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESSTGVLQPLDGFGELCHRYKCLL
LVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHG
RLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLR
IGLLGCNATRENVDRVTEALRAALQHCPKKKL

Sequence length

392

Interactions

View interactions

	KEGG		Reactome
	Alanine, aspartate and glutamate metabolism Glycine, serine and threonine metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways Carbon metabolism 2-Oxocarboxylic acid metabolism Peroxisome		Glyoxylate metabolism and glycine degradation Peroxisomal protein import

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hyperoxaluria	hyperoxaluria, primary hyperoxaluria, type i, primary hyperoxaluria	rs121908530, rs180177243, rs180177199, rs180177158, rs778567956, rs34116584, rs180177272, rs180177173, rs180177287, rs180177168, rs180177252, rs796052070, rs180177222, rs180177234, rs180177184 View all (142 more)	N/A
cardiac arrhythmia	Cardiac arrhythmia	rs180177272	N/A
Nephrotic Syndrome	nephrotic syndrome	rs180177201	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agnosia	Stimulate	1742479
Atherosclerosis	Associate	19592499
Blast Crisis	Associate	265737, 2724649
Cakut	Associate	27151922
Carcinoma Hepatocellular	Associate	25975536, 28430663, 35625596
Carcinoma Non Small Cell Lung	Associate	33408043
Carcinoma Renal Cell	Associate	32144299, 38297313
Cerebral Infarction	Associate	26352407
Cholangiocarcinoma	Associate	36158120
Chromosome Aberrations	Stimulate	1062222, 1976121
Chromosome Aberrations	Associate	264384, 6581840
Ciliopathies	Associate	24257694
Colorectal Neoplasms	Associate	22868256
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	36409364
Deafness	Associate	19376777
Death	Associate	15253729, 37874369
Diabetes Mellitus	Associate	25567748
Drug Related Side Effects and Adverse Reactions	Associate	22868256
Hematologic Neoplasms	Associate	2224129
Hereditary Sensory and Autonomic Neuropathies	Associate	19376777, 20920666, 21618344, 25567748, 26681808, 34059824
Hodgkin Disease	Associate	2183888
Hyperoxaluria	Associate	18951670, 24934730
Hyperoxaluria Primary	Associate	15840016, 18782763, 21612638, 25644115, 32221050, 35612621, 35661454, 36151119, 40225159
Hypertension Pulmonary	Associate	26352407
Kidney Calculi	Associate	22923379, 27644547, 35612621, 35830169
Kidney Diseases	Associate	21612638, 22529745, 27151922, 35830169
Kidney Failure Chronic	Associate	15253729, 24988064, 32569165, 37874369
Leukemia	Inhibit	10595741
Leukemia	Associate	1515646, 1985699, 2046206, 2328318, 265177, 3465378, 6451143, 6574794, 6972238, 8204887
Leukemia Lymphocytic Chronic B Cell	Associate	4528599
Leukemia Lymphoid	Associate	1683797
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	10398316, 1055011, 1060474, 1062222, 10651725, 1371078, 1383271, 1515646, 1742479, 1976121, 2039825, 2040694, 2175222, 2205309, 2224129 View all (49 more)
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	1985690
Leukemia Myeloid	Associate	3478105
Leukemia Myeloid Acute	Associate	1054612, 1067875, 1985690, 2581635, 265737, 2678002, 2930840, 3478106
Leukemia Myeloid Acute	Stimulate	7049266
Liver Failure	Associate	10960483
Metabolic Syndrome	Associate	25567748
Mitochondrial Diseases	Associate	1703535
Multiple Myeloma	Associate	2183888
Myelocytic leukemia like syndrome familial chronic	Associate	2260501
Myelodysplastic Syndromes	Associate	3478106
Myeloproliferative Disorders	Associate	1054612, 278632
Neoplasm Metastasis	Associate	28430663
Neoplasms	Inhibit	32144299
Neoplasms	Associate	35625596
Neoplasms Bone Tissue	Associate	278632
Nephrocalcinosis	Associate	24934730, 28893421, 33721035, 35612621
Nervous System Diseases	Associate	20308030
Neurotoxicity Syndromes	Associate	35904184
Pain	Associate	19376777
Peroxisomal Disorders	Associate	24990153
Philadelphia Chromosome	Associate	15327387, 21612638, 26252291, 28906061, 31715429, 33274618, 33691640, 3416075, 35218550, 36151119, 38243391, 6581842
Philadelphia Chromosome	Stimulate	3456250
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	1515646, 2498881, 2581635, 264384, 2678002, 2896031, 2930840, 3118359, 6581840, 8608244
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	1586748, 2040694, 6930307
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	9217185
Primary hyperoxaluria type 1	Inhibit	10960483, 2925788
Primary hyperoxaluria type 1	Associate	15253729, 15840016, 15849465, 16957746, 1703535, 17696873, 18782763, 18951670, 20056599, 20133649, 20150937, 20208150, 20564000, 22529745, 22923379 View all (24 more)
Pyridoxamine 5 Prime Phosphate Oxidase Deficiency	Associate	10960483
Renal Insufficiency Chronic	Associate	24257694, 35306035
Rufous oculocutaneous albinism	Associate	22781098
Turner Syndrome	Associate	6594170
Urolithiasis	Associate	24934730

AGXT (alanine--glyoxylate aminotransferase)