HAO1

Summary

HAO1 (hydroxyacid oxidase 1, HGNC:4809) is a protein-coding gene on chromosome 20p12.3, encoding 2-Hydroxyacid oxidase 1 (Q9UJM8). Broad substrate specificity (S)-2-hydroxy-acid oxidase that preferentially oxidizes glycolate.

This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site.

Source: NCBI Gene 54363 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 95 total — 1 pathogenic
• Phenotypes (HPO): 1
• Druggable target: yes
• MANE Select transcript: NM_017545

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4809
Approved symbol	HAO1
Name	hydroxyacid oxidase 1
Location	20p12.3
Locus type	gene with protein product
Status	Approved
Aliases	GOX
Ensembl gene	ENSG00000101323
Ensembl biotype	protein_coding
OMIM	605023
Entrez	54363

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000378789, ENST00000891783

RefSeq mRNA: 1 — MANE Select: NM_017545 NM_017545

CCDS: CCDS13100

Canonical transcript exons

ENST00000378789 — 8 exons

Exon	Start	End
ENSE00000658554	7885521	7885590
ENSE00000658555	7885706	7885864
ENSE00000658556	7895133	7895224
ENSE00000658557	7906154	7906329
ENSE00000658558	7914164	7914419
ENSE00000658559	7934484	7934635
ENSE00001478762	7882985	7883663
ENSE00001478813	7940286	7940458

Expression profiles

Bgee: expression breadth broad, 28 present calls, max score 98.25.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4986 / max 203.3813, expressed in 9 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186379	0.4986	9

Top tissues by expression

252 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.25	gold quality
liver	UBERON:0002107	96.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.81	gold quality
Brodmann (1909) area 10	UBERON:0013541	68.05	gold quality
endometrium epithelium	UBERON:0004811	67.32	gold quality
frontal pole	UBERON:0002795	67.31	gold quality
paraflocculus	UBERON:0005351	66.98	gold quality
middle frontal gyrus	UBERON:0002702	66.68	gold quality
mucosa of urinary bladder	UBERON:0001259	62.61	gold quality
cerebellar vermis	UBERON:0004720	56.00	gold quality
islet of Langerhans	UBERON:0000006	55.96	gold quality
tibialis anterior	UBERON:0001385	55.10	silver quality
deltoid	UBERON:0001476	52.63	gold quality
quadriceps femoris	UBERON:0001377	52.19	gold quality
buccal mucosa cell	CL:0002336	51.96	silver quality
left ventricle myocardium	UBERON:0006566	51.90	gold quality
thymus	UBERON:0002370	50.90	gold quality
vastus lateralis	UBERON:0001379	50.64	gold quality
metanephric glomerulus	UBERON:0004736	49.64	gold quality
colonic epithelium	UBERON:0000397	49.54	gold quality
renal glomerulus	UBERON:0000074	49.52	gold quality
nephron tubule	UBERON:0001231	49.47	gold quality
layer of synovial tissue	UBERON:0007616	49.33	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
epithelial cell of pancreas	CL:0000083	49.23	gold quality
myocardium	UBERON:0002349	49.21	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
kidney epithelium	UBERON:0004819	49.15	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting HAO1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-6739-5P	99.80	67.87	2806

Literature-anchored findings (GeneRIF, showing 6)

• These inhibitions suggest that glycolate binds to the active site of the reduced enzyme, and that DCIP also has affinity for the oxidized enzyme. (PMID:17669354)
• Active site and loop 4 movements within human glycolate oxidase. (PMID:18215067)
• The inhibitor heteroatoms interact with five active-site residues that have been implicated in catalysis in homologous flavodehydrogenases of L-2-hydroxy acids. In addition, the chlorophenyl substituent is surrounded by nonconserved hydrophobic residues. (PMID:20054120)
• The study presents the first spectroscopic evidence of the formation of an intermediate with absorbance features resembling those of a flavosemiquinone in the oxidative half-reaction of glycolate oxidase. (PMID:21141873)
• Mechanistic insights into the ROS-mediated inactivation of human aldehyde oxidase. (PMID:37247262)
• Glycolate oxidase-1 gene variants influence the risk of hyperoxaluria and renal stone development. (PMID:38214752)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	hao1	ENSDARG00000024160
mus_musculus	Hao1	ENSMUSG00000027261
rattus_norvegicus	Hao1	ENSRNOG00000004601

Paralogs (2): HAO2 (ENSG00000116882), CARNS1 (ENSG00000172508)

Protein

Protein identifiers

2-Hydroxyacid oxidase 1 — Q9UJM8 (reviewed: Q9UJM8)

Alternative names: Glycolate oxidase, Glyoxylate oxidase

All UniProt accessions (2): Q9UJM8, A8K058

UniProt curated annotations — full annotation on UniProt →

Function. Broad substrate specificity (S)-2-hydroxy-acid oxidase that preferentially oxidizes glycolate. The glyoxylate produced by the oxidation of glycolate can then be utilized by alanine-glyoxylate aminotransferase for the peroxisomal synthesis of glycine; this pathway appears to be an important step for the detoxification of glyoxylate which, if allowed to accumulate, may be metabolized to oxalate with formation of kidney stones. Can also catalyze the oxidation of glyoxylate, and long chain hydroxyacids such as 2-hydroxyhexadecanoate and 2-hydroxyoctanoate, albeit with much lower catalytic efficiency. Active in vitro with the artificial electron acceptor 2,6-dichlorophenolindophenol (DCIP), but O2 is believed to be the physiological electron acceptor, leading to the production of H2O2. Is not active on L-lactate and 2-hydroxybutanoate.

Subunit / interactions. Homotetramer.

Subcellular location. Peroxisome matrix.

Tissue specificity. Highly expressed in liver.

Activity regulation. Inhibited by its product oxalate. Inhibited by high concentrations of dichlorophenolindophenol (DCIP) in vitro.

Pathway. Amino-acid biosynthesis; glycine biosynthesis.

Similarity. Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.

RefSeq proteins (1): NP_060015* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000262	FMN-dep_DH	Domain
IPR008259	FMN_hydac_DH_AS	Active_site
IPR012133	Alpha-hydoxy_acid_DH_FMN	Family
IPR013785	Aldolase_TIM	Homologous_superfamily
IPR037396	FMN_HAD	Domain

Pfam: PF01070

Enzyme classification (BRENDA):

• EC 1.1.3.15 — (S)-2-hydroxy-acid oxidase (BRENDA: 44 organisms, 164 substrates, 154 inhibitors, 169 Km, 41 kcat entries)

Substrate kinetics (BRENDA)

52 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GLYCOLATE	0.0056–2.1	24
(S)-LACTATE	0.0052–103	15
L-LACTATE	0.34–16.5	14
L-2-HYDROXYISOCAPROATE	0.3–2.5	11
O2	0.022–0.64	10
DL-2-HYDROXYBUTYRATE	0.6–14	8
GLYOXYLATE	1.41–6.51	7
L-MANDELATE	0.16–20	7
DL-2-HYDROXYCAPROATE	0.15–3.2	4
DL-2-HYDROXYVALERATE	0.25–13	4
GLYCERATE	2.76–7.14	4
L-LEUCINE	5.3–15	4
DL-3-CHLOROLACTATE	0.7–28	3
DL-2-HYDROXY-4-METHYLTHIOBUTANOIC ACID	0.7–1.1	2
DL-2-HYDROXYISOVALERATE	0.6–8	2

Catalyzed reactions (Rhea), 5 shown:

• glyoxylate + O2 + H2O = oxalate + H2O2 + H(+) (RHEA:14837)
• a (2S)-2-hydroxycarboxylate + O2 = a 2-oxocarboxylate + H2O2 (RHEA:16789)
• glycolate + O2 = glyoxylate + H2O2 (RHEA:25311)
• 2-hydroxyoctanoate + O2 = 2-oxooctanoate + H2O2 (RHEA:67940)
• 2-hydroxyhexadecanoate + O2 = 2-oxohexadecanoate + H2O2 (RHEA:67944)

UniProt features (51 total): helix 17, binding site 13, strand 13, modified residue 3, chain 1, domain 1, short sequence motif 1, active site 1, turn 1

Structure

Experimental structures (PDB)

21 structures.

PDB	Method	Resolution (Å)
5QIF	X-RAY DIFFRACTION	1.2
6GMC	X-RAY DIFFRACTION	1.2
5QIH	X-RAY DIFFRACTION	1.33
5QIC	X-RAY DIFFRACTION	1.34
5QIE	X-RAY DIFFRACTION	1.34
2NZL	X-RAY DIFFRACTION	1.35
6GMB	X-RAY DIFFRACTION	1.35
7R4P	X-RAY DIFFRACTION	1.37
5QIG	X-RAY DIFFRACTION	1.42
5QID	X-RAY DIFFRACTION	1.45
5QIB	X-RAY DIFFRACTION	1.48
7R4O	X-RAY DIFFRACTION	1.5
6W44	X-RAY DIFFRACTION	1.64
2RDU	X-RAY DIFFRACTION	1.65
6W45	X-RAY DIFFRACTION	1.7
7R4N	X-RAY DIFFRACTION	1.7
6W4C	X-RAY DIFFRACTION	1.75
2RDT	X-RAY DIFFRACTION	1.95
2RDW	X-RAY DIFFRACTION	1.95
7M2O	X-RAY DIFFRACTION	2.07
2W0U	X-RAY DIFFRACTION	2.84

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJM8-F1	94.55	0.88

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 260 (proton acceptor)

Ligand- & substrate-binding residues (13): 167; 236; 258; 260; 263; 291–295; 314–315; 26; 79–81; 108; 130; 132 …

Post-translational modifications (3): 184, 194, 230

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-389661	Glyoxylate metabolism and glycine degradation
R-HSA-9033241	Peroxisomal protein import

MSigDB gene sets: 129 (showing top): GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_SERINE_FAMILY_AMINO_ACID_BIOSYNTHETIC_PROCESS, GOBP_AMINO_ACID_BIOSYNTHETIC_PROCESS, HNF1_Q6, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, CTAGGAA_MIR384, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, RYTAAWNNNTGAY_UNKNOWN, GOBP_GLYCINE_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS

GO Biological Process (6): fatty acid alpha-oxidation (GO:0001561), glycine biosynthetic process (GO:0006545), response to oxidative stress (GO:0006979), glycolate catabolic process (GO:0046296), amino acid biosynthetic process (GO:0008652), fatty acid oxidation (GO:0019395)

GO Molecular Function (4): (S)-2-hydroxy-acid oxidase activity (GO:0003973), FMN binding (GO:0010181), glyoxylate oxidase activity (GO:0047969), oxidoreductase activity (GO:0016491)

GO Cellular Component (3): peroxisomal matrix (GO:0005782), cytosol (GO:0005829), peroxisome (GO:0005777)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of amino acids and derivatives	1
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fatty acid catabolic process	1
fatty acid oxidation	1
glycine metabolic process	1
serine family amino acid biosynthetic process	1
proteinogenic amino acid biosynthetic process	1
response to stress	1
glycolate metabolic process	1
primary alcohol catabolic process	1
monocarboxylic acid catabolic process	1
amino acid metabolic process	1
biosynthetic process	1
fatty acid metabolic process	1
lipid oxidation	1
oxidoreductase activity, acting on the CH-OH group of donors, oxygen as acceptor	1
ribonucleotide binding	1
anion binding	1
oxidoreductase activity, acting on the aldehyde or oxo group of donors, oxygen as acceptor	1
catalytic activity	1
peroxisome	1
microbody lumen	1
cytoplasm	1
cellular anatomical structure	1
microbody	1

Protein interactions and networks

STRING

2938 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HAO1	ALB	P02768	870
HAO1	AMY1B	P04745	829
HAO1	AMY2B	P19961	825
HAO1	AMY2A	P04746	820
HAO1	GPKOW	Q92917	798
HAO1	ACO1	P21399	770
HAO1	MGAM2	Q2M2H8	753
HAO1	IREB2	P48200	744
HAO1	PXDN	Q92626	724
HAO1	PXDNL	A1KZ92	724
HAO1	MGAM	O43451	724
HAO1	AGXT	P21549	709
HAO1	LOX	P28300	686
HAO1	SHMT1	P34896	675
HAO1	PRODH	O43272	616

IntAct

6 interactions, top by confidence:

A	B	Type	Score
CCAR2	HSPA8	psi-mi:“MI:0914”(association)	0.550
HAO1	KCNAB2	psi-mi:“MI:0915”(physical association)	0.400
HAO1		psi-mi:“MI:0915”(physical association)	0.370
CCAR2	HSPA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): HAO1 (Affinity Capture-MS), KCNAB2 (Affinity Capture-MS), HAO1 (Affinity Capture-MS), HAO1 (Affinity Capture-MS), KCNAB2 (Affinity Capture-MS), HAO1 (Affinity Capture-MS), KCNAB2 (Affinity Capture-MS), CFDP1 (Cross-Linking-MS (XL-MS)), HAO1 (Cross-Linking-MS (XL-MS)), IGF2R (Cross-Linking-MS (XL-MS)), HAO1 (Protein-peptide)

ESM2 similar proteins: A0A0D2YG00, A0A1U8QTA2, A0A3L6E0R4, A0A5N1I561, A0A7T8F1M9, A2TBU0, B0BNF9, B1HZY7, B8AUI3, B8B8K5, B8MKR3, C0XIJ3, C2K1F0, C5H429, E9BDA8, F1DBB2, M1W0Y0, O33655, O49506, P00175, P09437, P0DUR7, P31865, P32746, P32748, P32953, P52489, Q01KC2, Q07523, Q24JJ8, Q3ZBW2, Q44467, Q4QEB3, Q54E41, Q6Z965, Q6ZXC1, Q75CE1, Q7FAS1, Q7XPR4, Q8H3I4

Diamond homologs: A0A0D2YG00, A0A3L6E0R4, A0A5N1I561, A1AHE2, A4TKI4, A4XYG7, A6VCM8, A7FJF0, A7ZTF9, A8A670, A8ARJ1, A8GIL1, A9R623, B0BNF9, B0RLM2, B0T7X2, B1HZY7, B1IZI5, B1JPU0, B1LK44, B1X8M0, B2JZQ1, B2SUY3, B2U5C2, B5YWA7, B6I3I4, B7L725, B7M492, B7MFG9, B7N251, B7NER0, B7NPB4, B7RR92, B7ULG1, B7V1I3, B8AKX6, B8AUI3, B8B7C5, B8B8K5, B8MKR3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

95 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	76
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2674697	NM_017545.3(HAO1):c.493G>T (p.Gly165Cys)	Pathogenic

SpliceAI

1334 predictions. Top by Δscore:

Variant	Effect	Δscore
20:7883662:CC:C	acceptor_gain	1.0000
20:7883662:CCCTG:C	acceptor_loss	1.0000
20:7883663:CC:C	acceptor_gain	1.0000
20:7883663:CCTG:C	acceptor_loss	1.0000
20:7883665:T:C	acceptor_loss	1.0000
20:7885515:TCTTA:T	donor_loss	1.0000
20:7885516:CTTA:C	donor_loss	1.0000
20:7885517:TTA:T	donor_loss	1.0000
20:7885518:TACCA:T	donor_loss	1.0000
20:7885519:A:AC	donor_gain	1.0000
20:7885520:C:CC	donor_gain	1.0000
20:7885520:C:T	donor_loss	1.0000
20:7885520:CCA:C	donor_gain	1.0000
20:7885520:CCACT:C	donor_gain	1.0000
20:7885587:CCCC:C	acceptor_gain	1.0000
20:7885588:CCC:C	acceptor_gain	1.0000
20:7885588:CCCC:C	acceptor_gain	1.0000
20:7885589:CC:C	acceptor_gain	1.0000
20:7885589:CCC:C	acceptor_gain	1.0000
20:7885590:CC:C	acceptor_gain	1.0000
20:7885591:C:CC	acceptor_gain	1.0000
20:7885592:T:C	acceptor_loss	1.0000
20:7885595:CCAAG:C	acceptor_gain	1.0000
20:7885596:C:T	acceptor_gain	1.0000
20:7885596:CAAG:C	acceptor_gain	1.0000
20:7885599:G:C	acceptor_gain	1.0000
20:7885599:G:GC	acceptor_gain	1.0000
20:7885701:GTTAC:G	donor_loss	1.0000
20:7885702:TTAC:T	donor_loss	1.0000
20:7885703:TA:T	donor_loss	1.0000

AlphaMissense

2400 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:7895166:A:C	H260Q	0.998
20:7895166:A:T	H260Q	0.998
20:7906167:C:A	K236N	0.998
20:7906167:C:G	K236N	0.998
20:7895158:C:G	R263P	0.997
20:7895167:T:G	H260P	0.997
20:7895168:G:C	H260D	0.997
20:7895169:A:C	N259K	0.997
20:7895169:A:T	N259K	0.997
20:7895174:A:G	S258P	0.997
20:7914385:A:C	S108R	0.997
20:7914385:A:T	S108R	0.997
20:7914387:T:G	S108R	0.997
20:7895164:C:T	G261E	0.996
20:7906174:A:T	V234D	0.996
20:7914210:G:T	R167S	0.996
20:7914231:C:G	D160H	0.996
20:7940303:A:C	N40K	0.996
20:7940303:A:T	N40K	0.996
20:7895152:A:G	L265P	0.995
20:7895168:G:A	H260Y	0.995
20:7895176:A:T	V257E	0.995
20:7906166:C:G	G237R	0.995
20:7914230:T:A	D160V	0.995
20:7914327:A:G	W128R	0.995
20:7914327:A:T	W128R	0.995
20:7895167:T:A	H260L	0.994
20:7895168:G:T	H260N	0.994
20:7906168:T:A	K236M	0.994
20:7914209:C:G	R167P	0.994

dbSNP variants (sampled 300 via entrez): RS1000046952 (20:7912019 C>A), RS1000086685 (20:7903236 C>T), RS1000127243 (20:7931633 T>A), RS1000135874 (20:7903032 A>G), RS1000146675 (20:7912252 C>G), RS1000197334 (20:7942068 C>T), RS1000197808 (20:7886854 T>C), RS1000229227 (20:7934950 C>G), RS1000246989 (20:7890661 C>T), RS1000297881 (20:7890259 G>A), RS1000388232 (20:7928911 A>T), RS1000403152 (20:7914819 C>T), RS1000409151 (20:7923084 T>C,G), RS1000434000 (20:7914566 C>T), RS1000434854 (20:7896904 C>T)

Disease associations

OMIM: gene MIM:605023 | disease phenotypes: MIM:167030, MIM:209850

GenCC curated gene-disease

Mondo (3): nephrolithiasis, calcium oxalate (MONDO:0957318), autism (MONDO:0005260), cleft palate (MONDO:0016064)

Orphanet (1): Cleft palate (Orphanet:2014)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000717	Autism

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST001792_4	Colorectal cancer	7.000000e-09
GCST001792_6	Colorectal cancer	2.000000e-07
GCST002454_20	Colorectal cancer	3.000000e-12
GCST002545_1	Ossification of the posterior longitudinal ligament of the spine	1.000000e-13
GCST003155_32	Systemic lupus erythematosus	2.000000e-06
GCST003853_8	Hip minimal joint space width	1.000000e-06
GCST003991_22	Childhood ear infection	7.000000e-07
GCST004512_2	Smoking status (heavy vs light)	3.000000e-08
GCST005171_15	QT interval	3.000000e-06
GCST006110_5	Nose morphology	7.000000e-07
GCST006979_700	Heel bone mineral density	3.000000e-11
GCST007552_12	Colorectal cancer	3.000000e-10
GCST007856_17	Colorectal cancer or advanced adenoma	3.000000e-13
GCST007856_75	Colorectal cancer or advanced adenoma	9.000000e-06
GCST008295_32	Number of decayed, missing and filled tooth surfaces or use of dentures	7.000000e-09
GCST008306_19	Dentures	8.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007873	cartilage thickness measurement
EFO:0007904	susceptibility to childhood ear infection measurement
EFO:0004682	QT interval
EFO:0009270	heel bone mineral density
EFO:0010078	dentures

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D002972	Cleft Palate	C05.500.460.185; C05.660.207.540.460.185; C07.320.440.185; C07.465.525.185; C07.650.500.460.185; C07.650.525.185; C16.131.621.207.540.460.185; C16.131.850.500.460.185; C16.131.850.525.185

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4229 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

Binding affinities (BindingDB)

2 measured of 4 human assays (4 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
4-(4-pentan-2-ylphenoxy)triazolidine	IC50	45 nM	US-11389456: Compounds and methods for treating oxalate-related diseases
4-(3-pentan-2-ylphenoxy)triazolidine	IC50	65 nM	US-11389456: Compounds and methods for treating oxalate-related diseases

ChEMBL bioactivities

318 potent at pChembl≥5 of 339 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.52	IC50	0.3	nM	CHEMBL6034149
9.40	IC50	0.4	nM	CHEMBL6006896
9.05	IC50	0.9	nM	CHEMBL4855986
9.00	IC50	1	nM	CHEMBL5959206
9.00	IC50	1	nM	CHEMBL5839087
9.00	IC50	1	nM	CHEMBL5850203
9.00	IC50	1	nM	CHEMBL5838689
9.00	IC50	1	nM	CHEMBL5954178
9.00	IC50	1	nM	CHEMBL5952776
9.00	IC50	1	nM	CHEMBL5994255
9.00	IC50	1	nM	CHEMBL5985259
9.00	IC50	1	nM	CHEMBL5801102
9.00	IC50	1	nM	CHEMBL5968915
9.00	IC50	1	nM	CHEMBL5777465
9.00	IC50	1	nM	CHEMBL6006430
9.00	IC50	1	nM	CHEMBL5760531
9.00	IC50	1	nM	CHEMBL5854222
9.00	IC50	1	nM	CHEMBL5846042
9.00	IC50	1	nM	CHEMBL5864315
9.00	IC50	1	nM	CHEMBL5782154
9.00	IC50	1	nM	CHEMBL5973858
8.96	IC50	1.1	nM	CHEMBL4861379
8.92	IC50	1.2	nM	CHEMBL4850573
8.70	IC50	2	nM	CHEMBL5978848
8.70	IC50	2	nM	CHEMBL6055355
8.70	IC50	2	nM	CHEMBL6046125
8.70	IC50	2	nM	CHEMBL5823871
8.70	IC50	2	nM	CHEMBL5947976
8.70	IC50	2	nM	CHEMBL6037542
8.70	IC50	2	nM	CHEMBL5753348
8.70	IC50	2	nM	CHEMBL5962104
8.70	IC50	2	nM	CHEMBL6033494
8.70	IC50	2	nM	CHEMBL6002960
8.70	IC50	2	nM	CHEMBL6001061
8.70	IC50	2	nM	CHEMBL5839502
8.70	IC50	2	nM	CHEMBL6051541
8.70	IC50	2	nM	CHEMBL5755685
8.70	IC50	2	nM	CHEMBL5941699
8.70	IC50	2	nM	CHEMBL5844750
8.70	IC50	2	nM	CHEMBL5835259
8.70	IC50	2	nM	CHEMBL5854368
8.70	IC50	2	nM	CHEMBL5814643
8.70	IC50	2	nM	CHEMBL5806146
8.70	IC50	2	nM	CHEMBL5920613
8.70	IC50	2	nM	CHEMBL5984508
8.70	IC50	2	nM	CHEMBL5757823
8.70	IC50	2	nM	CHEMBL5756785
8.52	IC50	3	nM	CHEMBL5978124
8.52	IC50	3	nM	CHEMBL5996587
8.52	IC50	3	nM	CHEMBL6036181

PubChem BioAssay actives

53 with measured affinity, of 98 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-[3-[3-[3-[(5-carboxy-1H-triazol-4-yl)oxy]phenyl]-4-fluorophenyl]-5-(cyclopropylmethyl)-4-[(3-fluoro-4-sulfamoylphenyl)methyl]pyrazol-1-yl]-1,3-thiazole-4-carboxylic acid	1768419: Inhibition of recombinant human GOX expressed in Escherichia coli C41 (DE3) using glycolate as substrate preincubated for 10 mins followed by substrate addition measured by Amplex red and horseradish peroxidase based fluorescence assay	ic50	0.0009	uM
2-[3-[3-[4-[(5-carboxy-2H-triazol-4-yl)sulfanyl]phenyl]-4-fluorophenyl]-5-(cyclopropylmethyl)-4-[(3-fluoro-4-sulfamoylphenyl)methyl]pyrazol-1-yl]-1,3-thiazole-4-carboxylic acid	1768419: Inhibition of recombinant human GOX expressed in Escherichia coli C41 (DE3) using glycolate as substrate preincubated for 10 mins followed by substrate addition measured by Amplex red and horseradish peroxidase based fluorescence assay	ic50	0.0011	uM
2-[3-[3-[4-[(5-carboxy-1H-triazol-4-yl)oxy]phenyl]-4-fluorophenyl]-5-(cyclopropylmethyl)-4-[(3-fluoro-4-sulfamoylphenyl)methyl]pyrazol-1-yl]-1,3-thiazole-4-carboxylic acid	1768419: Inhibition of recombinant human GOX expressed in Escherichia coli C41 (DE3) using glycolate as substrate preincubated for 10 mins followed by substrate addition measured by Amplex red and horseradish peroxidase based fluorescence assay	ic50	0.0012	uM
2-[3-[3-[4-(5-carboxy-2H-triazol-4-yl)phenyl]-4-fluorophenyl]-5-(cyclopropylmethyl)-4-[(3-fluoro-4-sulfamoylphenyl)methyl]pyrazol-1-yl]-1,3-thiazole-4-carboxylic acid	1768419: Inhibition of recombinant human GOX expressed in Escherichia coli C41 (DE3) using glycolate as substrate preincubated for 10 mins followed by substrate addition measured by Amplex red and horseradish peroxidase based fluorescence assay	ic50	0.0036	uM
2-[3-[3-[(5-carboxy-2H-triazol-4-yl)sulfanyl]phenyl]-5-(cyclopropylmethyl)-4-[(3-fluoro-4-sulfamoylphenyl)methyl]pyrazol-1-yl]-1,3-thiazole-4-carboxylic acid	1768419: Inhibition of recombinant human GOX expressed in Escherichia coli C41 (DE3) using glycolate as substrate preincubated for 10 mins followed by substrate addition measured by Amplex red and horseradish peroxidase based fluorescence assay	ic50	0.0047	uM
5-(4-chlorophenyl)sulfanyl-2H-triazole-4-carboxylic acid	1768419: Inhibition of recombinant human GOX expressed in Escherichia coli C41 (DE3) using glycolate as substrate preincubated for 10 mins followed by substrate addition measured by Amplex red and horseradish peroxidase based fluorescence assay	ic50	0.0067	uM
2-[3-[3-[(5-carboxy-1H-triazol-4-yl)oxy]-4-fluorophenyl]-5-(cyclopropylmethyl)-4-[(3-fluoro-4-sulfamoylphenyl)methyl]pyrazol-1-yl]-1,3-thiazole-4-carboxylic acid	1768419: Inhibition of recombinant human GOX expressed in Escherichia coli C41 (DE3) using glycolate as substrate preincubated for 10 mins followed by substrate addition measured by Amplex red and horseradish peroxidase based fluorescence assay	ic50	0.0110	uM
5-dodecylsulfanyl-2H-triazole-4-carboxylic acid	1397957: Inhibition of human N-terminal His-tagged glycolate oxidase expressed in C41(D43) Escherichia coli using glycolate as substrate preincubated for 30 mins followed by substrate addition by DCIP dye-based assay	ki	0.0150	uM
5-[[3-[3-(dimethylamino)-1,2,4-oxadiazol-5-yl]-2-hydroxyphenyl]methyl-methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.0210	uM
5-[[2-hydroxy-3-(4-methyl-1,3-thiazol-2-yl)phenyl]methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.0230	uM
5-[[3-[3-(dimethylamino)-1,2,4-oxadiazol-5-yl]-2-hydroxyphenyl]methyl-ethylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.0240	uM
5-[[3-(4,5-dimethyl-1,3-thiazol-2-yl)-2-hydroxyphenyl]methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.0250	uM
5-[[2-hydroxy-3-(4-propan-2-yl-1,3-thiazol-2-yl)phenyl]methyl-methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.0350	uM
5-[[3-[3-(dimethylamino)-1,2,4-oxadiazol-5-yl]-2-hydroxyphenyl]methyl-propan-2-ylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.0350	uM
5-[[3-[3-(dimethylamino)-1,2,4-oxadiazol-5-yl]-2-hydroxyphenyl]methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.0370	uM
5-[[2-hydroxy-3-(3-propan-2-yl-1,2,4-oxadiazol-5-yl)phenyl]methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.0470	uM
4-[4-[4-[(3-hydroxy-2,4-dihydro-1,5-benzodioxepin-3-yl)methylsulfanyl]phenyl]phenyl]-2,4-dioxobutanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	0.0600	uM
4-[4-(4-bromophenyl)phenyl]-2,4-dioxobutanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	0.0630	uM
5-[[2-hydroxy-3-(4-propan-2-yl-1,3-thiazol-2-yl)phenyl]methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.0650	uM
5-[[2-hydroxy-3-(4-propan-2-yl-1,3-oxazol-2-yl)phenyl]methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.0870	uM
2,4-dioxo-4-[4-[4-(2-pyridin-4-ylethylsulfanyl)phenyl]phenyl]butanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	0.0900	uM
2-chloro-4-[2-[[(6-chloro-1H-indole-2-carbonyl)-methylamino]methyl]-5-fluorophenyl]benzoic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.1100	uM
2,4-dioxo-4-[4-(4-sulfanylphenyl)phenyl]butanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	0.1300	uM
4-[4-(4-methylsulfanylphenyl)phenyl]-2,4-dioxobutanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	0.1600	uM
5-[[3-[3-(dimethylamino)-1,2,4-oxadiazol-5-yl]phenyl]methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.1700	uM
5-[[2-chloro-3-[3-(dimethylamino)-1,2,4-oxadiazol-5-yl]phenyl]methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.1800	uM
2,4-dioxo-4-[4-(2-phenylindol-1-yl)phenyl]butanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	0.1800	uM
4-[4-(4-bromophenyl)phenyl]pyrrolidine-2,3,5-trione	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.1900	uM
5-[[3-(4,5-dimethyl-1,3-thiazol-2-yl)phenyl]methyl-methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.2900	uM
4-[4-(4-benzylsulfanylphenyl)phenyl]-2,4-dioxobutanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	0.4000	uM
4-[4-[(3,4-dichlorophenyl)methyl]phenyl]-2,4-dioxobutanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	0.4400	uM
5-[methyl-[(2-propoxy-3-pyridinyl)methyl]amino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.5100	uM
4-(4-nonylphenyl)-2,4-dioxobutanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	0.6000	uM
5-[methyl-[[3-(4-methyl-1,3-thiazol-2-yl)phenyl]methyl]amino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.6500	uM
5-[methyl-[[3-(4-propan-2-yl-1,3-thiazol-2-yl)phenyl]methyl]amino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.7100	uM
5-[[2-hydroxy-3-(1-propan-2-ylpyrazol-3-yl)phenyl]methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	0.8600	uM
azane;5-[5-[(4-bromoanilino)methyl]furan-2-yl]-2-hydroxybenzoic acid	1868283: Non-competitive mixed inhibition of N-terminal His-tagged human recombinant glycolate oxidase expressed in Escherichia coli BL21 (DE3) cells assessed as inhibition constant using varying concentration of glycolate as substrate measured every 60 sec for 15 mins by Amplex red and horseradish peroxidase based fluorescence assay	ki	1.1000	uM
2,4-dioxo-4-(4-phenylphenyl)butanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	1.1000	uM
2,4-dioxotridecanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	1.4000	uM
(E)-2,4-dioxo-6-(2,6,6-trimethylcyclohexen-1-yl)hex-5-enoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	1.4000	uM
azane;5-[5-[[benzyl-[[5-(3-carboxy-4-hydroxyphenyl)furan-2-yl]methyl]amino]methyl]furan-2-yl]-2-hydroxybenzoic acid	1868275: Inhibition of N-terminal His-tagged human recombinant glycolate oxidase expressed in Escherichia coli BL21 (DE3) cells using glycolate as substrate preincubated for 10 mins followed by substrate addition and measured after 10 mins by Amplex red and horseradish peroxidase based fluorescence assay	ic50	1.5000	uM
azane;5-[5-[[[5-(3-carboxy-4-hydroxyphenyl)furan-2-yl]methyl-prop-2-ynylamino]methyl]furan-2-yl]-2-hydroxybenzoic acid	1868275: Inhibition of N-terminal His-tagged human recombinant glycolate oxidase expressed in Escherichia coli BL21 (DE3) cells using glycolate as substrate preincubated for 10 mins followed by substrate addition and measured after 10 mins by Amplex red and horseradish peroxidase based fluorescence assay	ic50	2.0000	uM
2,4-dioxo-4-[4-(1,2,3,4-tetrahydronaphthalen-1-yl)phenyl]butanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	2.1000	uM
5-[[3-[3-(dimethylamino)-1,2,4-oxadiazol-5-yl]-2-methoxyphenyl]methylamino]-1H-indazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	2.1000	uM
azane;5-[5-[[4-[4-(hex-5-ynoylamino)benzoyl]anilino]methyl]furan-2-yl]-2-hydroxybenzoic acid	1868275: Inhibition of N-terminal His-tagged human recombinant glycolate oxidase expressed in Escherichia coli BL21 (DE3) cells using glycolate as substrate preincubated for 10 mins followed by substrate addition and measured after 10 mins by Amplex red and horseradish peroxidase based fluorescence assay	ic50	2.4000	uM
2-[3-(dimethylamino)-1,2,4-oxadiazol-5-yl]-6-[(2H-triazolo[4,5-b]pyridin-6-ylamino)methyl]phenol	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	2.9000	uM
4-(4-cyclohexylphenyl)-2,4-dioxobutanoic acid	74103: In vitro inhibition of porcine Glycolate oxidase	ic50	3.0000	uM
5-[[3-[3-(dimethylamino)-1,2,4-oxadiazol-5-yl]-2-hydroxyphenyl]methylamino]-1H-indole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	4.0000	uM
5-[[3-[3-(dimethylamino)-1,2,4-oxadiazol-5-yl]-2-hydroxyphenyl]methylamino]-1-methylindazole-3-carboxylic acid	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	4.2000	uM
5-[[3-[3-(dimethylamino)-1,2,4-oxadiazol-5-yl]-2-hydroxyphenyl]methylamino]-1H-indazole-3-carboxamide	1814193: Inhibition of human recombinant HAO1 assessed as detecting hydrogen peroxide using glycolic acid as substrate preincubated for 30 min followed by substrate addition measured after 15 mins by microplate reader	ic50	4.4000	uM

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases mutagenesis	3
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	affects expression, decreases expression, decreases methylation	2
propionaldehyde	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
abrine	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression	1
Aldehydes	decreases expression	1
Estradiol	decreases expression	1
Silicon Dioxide	decreases expression	1
Valproic Acid	decreases expression	1
Palmitic Acid	decreases expression	1
Okadaic Acid	decreases expression	1

ChEMBL screening assays

30 unique, capped per target: 30 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4234427	Binding	Inhibition of human N-terminal His-tagged glycolate oxidase expressed in C41(D43) Escherichia coli using glycolate as substrate preincubated for 30 mins followed by substrate addition by DCIP dye-based assay	Salicylic Acid Derivatives Inhibit Oxalate Production in Mouse Hepatocytes with Primary Hyperoxaluria Type 1. — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1TG	Abcam HeLa HAO1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00036231	PHASE3	TERMINATED	Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244	PHASE3	COMPLETED	Synthetic Human Secretin in Children With Autism
NCT00065884	PHASE3	UNKNOWN	Valproate Response in Aggressive Autistic Adolescents
NCT00065962	PHASE3	COMPLETED	Secretin for the Treatment of Autism
NCT00252603	PHASE3	COMPLETED	Galantamine Versus Placebo in Childhood Autism
NCT00346736	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00352248	PHASE3	COMPLETED	Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder
NCT00352352	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00355329	PHASE3	COMPLETED	Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation
NCT00498173	PHASE3	COMPLETED	Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism
NCT00541346	PHASE3	COMPLETED	A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms