AGMO

Summary

AGMO (alkylglycerol monooxygenase, HGNC:33784) is a protein-coding gene on chromosome 7p21.2, encoding Alkylglycerol monooxygenase (Q6ZNB7). Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids.

The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms.

Source: NCBI Gene 392636 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 20
• Clinical variants (ClinVar): 205 total — 9 pathogenic, 4 likely-pathogenic
• MANE Select transcript: NM_001004320

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33784
Approved symbol	AGMO
Name	alkylglycerol monooxygenase
Location	7p21.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ16237
Ensembl gene	ENSG00000187546
Ensembl biotype	protein_coding
OMIM	613738
Entrez	392636

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000342526, ENST00000407277, ENST00000418075, ENST00000498264, ENST00000859216, ENST00000859217, ENST00000859218, ENST00000859219

RefSeq mRNA: 1 — MANE Select: NM_001004320 NM_001004320

CCDS: CCDS34604

Canonical transcript exons

ENST00000342526 — 13 exons

Exon	Start	End
ENSE00001411716	15200317	15201359
ENSE00001506041	15365514	15365619
ENSE00001506042	15366140	15366222
ENSE00001621183	15418558	15418653
ENSE00001674523	15390840	15390905
ENSE00001676405	15431005	15431108
ENSE00001719737	15390671	15390750
ENSE00001732949	15385446	15385562
ENSE00001734405	15387406	15387540
ENSE00001769037	15544772	15544923
ENSE00001802201	15560141	15560271
ENSE00002308901	15561720	15562015
ENSE00003545046	15394113	15394179

Expression profiles

Bgee: expression breadth ubiquitous, 118 present calls, max score 91.83.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3985 / max 169.4844, expressed in 306 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
82865	1.0103	219
82860	0.2460	35
82862	0.0743	46
82864	0.0415	15
82863	0.0264	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
liver	UBERON:0002107	91.83	gold quality
right lobe of liver	UBERON:0001114	90.25	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.49	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.24	gold quality
duodenum	UBERON:0002114	80.73	gold quality
calcaneal tendon	UBERON:0003701	79.90	gold quality
testis	UBERON:0000473	74.02	gold quality
right testis	UBERON:0004534	73.50	gold quality
left testis	UBERON:0004533	72.78	gold quality
gall bladder	UBERON:0002110	72.15	gold quality
quadriceps femoris	UBERON:0001377	69.42	gold quality
cerebellar vermis	UBERON:0004720	67.75	gold quality
subcutaneous adipose tissue	UBERON:0002190	67.36	gold quality
adipose tissue	UBERON:0001013	67.32	gold quality
adult mammalian kidney	UBERON:0000082	67.30	gold quality
omental fat pad	UBERON:0010414	67.05	gold quality
small intestine	UBERON:0002108	66.79	gold quality
small intestine Peyer’s patch	UBERON:0003454	66.30	gold quality
mucosa of transverse colon	UBERON:0004991	65.90	gold quality
thymus	UBERON:0002370	64.50	silver quality
thoracic mammary gland	UBERON:0005200	64.38	gold quality
tibial nerve	UBERON:0001323	63.64	gold quality
kidney	UBERON:0002113	63.07	gold quality
placenta	UBERON:0001987	61.58	gold quality
tibial artery	UBERON:0007610	59.11	gold quality
popliteal artery	UBERON:0002250	59.06	gold quality
left coronary artery	UBERON:0001626	58.93	gold quality
corpus callosum	UBERON:0002336	58.80	gold quality
sural nerve	UBERON:0015488	58.75	silver quality
transverse colon	UBERON:0001157	57.30	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ENAD-20	yes	142.41
E-ANND-3	yes	5.37

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting AGMO, 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-5692A	100.00	74.40	6850
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-6861-3P	99.60	68.46	444
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-504-3P	99.30	67.18	1745

Literature-anchored findings (GeneRIF, showing 5)

• Transmembrane protein 195 has tetrahydrobiopterin-dependent alkylglycerol monooxygenase activity (also known as glyceryl-ether monooxygenase activity, E.C. 1.14.16.5). (PMID:20643956)
• Among all of the acidic residues within the eight-histidine motif, only mutation of Glu137 to alanine led to an 18-fold increase in the Michaelis-Menten constant for tetrahydrobiopterin, suggesting a role in tetrahydrobiopterin interaction (PMID:22220568)
• An AGMO mutation was found in a Saudi family underlying primary microcephaly and intellectual disability. (PMID:27000257)
• We identified homozygous and heterozygous mutations of the alkylglycerol monooxygenase (AGMO) gene (MIM 613738) as the likely cause of visceral leishmaniasis relapse in 3 families. (PMID:28586473)
• Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. (PMID:31555905)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	agmo	ENSDARG00000025595
mus_musculus	Agmo	ENSMUSG00000050103
rattus_norvegicus	Agmo	ENSRNOG00000023116
caenorhabditis_elegans		WBGENE00007210

Protein

Protein identifiers

Alkylglycerol monooxygenase — Q6ZNB7 (reviewed: Q6ZNB7)

Alternative names: Transmembrane protein 195

All UniProt accessions (4): H0Y3V1, H7C0E0, Q6ZNB7, X5D773

UniProt curated annotations — full annotation on UniProt →

Function. Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes.

Subcellular location. Endoplasmic reticulum membrane.

Similarity. Belongs to the sterol desaturase family. TMEM195 subfamily.

RefSeq proteins (1): NP_001004320* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006694	Fatty_acid_hydroxylase	Domain
IPR051689	Sterol_desaturase/TMEM195	Family
IPR056853	AGMP_C	Domain

Pfam: PF04116, PF24858

Enzyme classification (BRENDA):

• EC 1.14.16.5 — alkylglycerol monooxygenase (BRENDA: 14 organisms, 93 substrates, 52 inhibitors, 40 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
TETRAHYDROBIOPTERIN	0.0018–0.0335	3
1-O-PYRENEDECYL-SN-GLYCEROL	0.0089–0.011	2
RS-3-HEXADECYLOXYPROPANE-1,2-DIOL	0.012–0.66	2
RS-3-OCTADECYLOXYPROPANE-1,2-DIOL	0.0247–0.072	2
(6R)-TETRAHYDROBIOPTERIN	0.0026	1
1-O-HEXADECYLGLYCEROL	0.66	1
2-HEXADECYLOXYPROPANE-1,3-DIOL	0.0183	1
2-HEXADECYLTHIOETHAN-1-OL	0.228	1
2-OCTADECYLOXYETHAN-1-OL	0.0313	1
2-OCTADECYLTHIOETHAN-1-OL	0.521	1
3-HEXADECYLOXY-1-METHOXYPROPAN-1-OL	0.265	1
6-METHYL-5,6,7,8-TETRAHYDROPTERIN	0.138	1
6R-5,6,7,8-TETRAHYDROBIOPTERIN	0.0246	1
CIS-RS-3-OCTADEC-9’-ENYLOXYPROPANE-1,2-DIOL	0.0397	1
R-3-DODECYLOXYPROPANE-1,2-DIOL	0.0474	1

Catalyzed reactions (Rhea), 1 shown:

• 1-O-(1,2-saturated-alkyl)-sn-glycerol + (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + O2 = a 1-(1-hydroxyalkyl)-sn-glycerol + (6R)-L-erythro-6,7-dihydrobiopterin + H2O (RHEA:36255)

UniProt features (20 total): mutagenesis site 8, transmembrane region 5, short sequence motif 3, sequence variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZNB7-F1	93.90	0.87

Functional residue map

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

Mutagenesis-validated functional residues (8):

Position	Phenotype
132	loss of function; when associated with a-136; a-145; a-148; a-149; a-221; a-224 and a-225.
136	loss of function; when associated with a-132; a-145; a-148; a-149; a-221; a-224 and a-225.
145	loss of function; when associated with a-132; a-136; a-148; a-149; a-221; a-224 and a-225.
148	loss of function; when associated with a-132; a-136; a-145; a-149; a-221; a-224 and a-225.
149	loss of function; when associated with a-132; a-136; a-145; a-148; a-221; a-224 and a-225.
221	loss of function; when associated with a-132; a-136; a-145; a-148; a-149; a-224 and a-225.
224	loss of function; when associated with a-132; a-136; a-145; a-148; a-149; a-221 and a-225.
225	loss of function; when associated with a-132; a-136; a-145; a-148; a-149; a-221 and a-224.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-75109	Triglyceride biosynthesis
R-HSA-1430728	Metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-8979227	Triglyceride metabolism

MSigDB gene sets: 59 (showing top): GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_NEUTRAL_LIPID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_NEUTRAL_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_MEMBRANE_LIPID_METABOLIC_PROCESS, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_IRON_ION_BINDING, GOMF_MONOOXYGENASE_ACTIVITY, GOBP_TRIGLYCERIDE_METABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN_REDUCED_PTERIDINE_AS_ONE_DONOR_AND_INCORPORATION_OF_ONE_ATOM_OF_OXYGEN

GO Biological Process (5): obsolete membrane lipid metabolic process (GO:0006643), triglyceride biosynthetic process (GO:0019432), ether lipid metabolic process (GO:0046485), lipid metabolic process (GO:0006629), lipid biosynthetic process (GO:0008610)

GO Molecular Function (5): iron ion binding (GO:0005506), glyceryl-ether monooxygenase activity (GO:0050479), monooxygenase activity (GO:0004497), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Triglyceride metabolism	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lipid metabolic process	2
triglyceride metabolic process	1
acylglycerol biosynthetic process	1
primary metabolic process	1
biosynthetic process	1
transition metal ion binding	1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen	1
oxidoreductase activity	1
binding	1
catalytic activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

646 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AGMO	ALDH3A2	P51648	949
AGMO	FA2H	Q7L5A8	942
AGMO	DGKB	Q9Y6T7	720
AGMO	ADCY5	O95622	678
AGMO	MTNR1B	P49286	598
AGMO	C2CD4B	A6NLJ0	594
AGMO	TMEM86B	Q8N661	577
AGMO	SPR	P35270	572
AGMO	SLC30A8	Q8IWU4	520
AGMO	GLIS3	Q8NEA6	515
AGMO	CDKAL1	Q5VV42	482
AGMO	PAH	P00439	475
AGMO	CDC123	O75794	455
AGMO	ZBED3	Q96IU2	448
AGMO	PROX1	Q92786	448

IntAct

7 interactions, top by confidence:

A	B	Type	Score
AQP6	AGMO	psi-mi:“MI:0915”(physical association)	0.560
WLS	AGMO	psi-mi:“MI:0915”(physical association)	0.370
AGMO	AQP6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (1): AGMO (Two-hybrid)

ESM2 similar proteins: A0JPQ8, A8MWK0, A9SIZ6, B6JWP7, C4QVU3, C4R613, D6WJ77, F1Q8R9, G5ECD6, I1MSF2, O13846, O17554, O31250, O74787, O94298, O94673, P21147, P25338, P68434, P9WNZ8, P9WNZ9, Q03529, Q296J9, Q2LAM0, Q2U0S9, Q4R4P4, Q567X1, Q5GKZ7, Q5M8F9, Q5MPP0, Q5R7H4, Q6GNM0, Q6NYE4, Q6RS96, Q6ZNB7, Q754G0, Q7L5A8, Q8BS35, Q8NKG9, Q8WZK2

Diamond homologs: A0JPQ8, O17554, P68434, P9WNZ8, P9WNZ9, Q5M8F9, Q6NYE4, Q6ZNB7, Q8BS35, F2VS69

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	4
Uncertain significance	152
Likely benign	13
Benign	10

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
144255	GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1	Pathogenic
147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	Pathogenic
154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	Pathogenic
1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	Pathogenic
3340295	NM_001004320.2(AGMO):c.969del (p.Glu324fs)	Pathogenic
4070975	NM_001004320.2(AGMO):c.798del (p.Asn266fs)	Pathogenic
58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	Pathogenic
814934	GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1	Pathogenic
981203	GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1	Pathogenic
1180394	NM_001004320.2(AGMO):c.706_708del (p.Tyr236del)	Likely pathogenic
1341726	NM_001004320.2(AGMO):c.957_957+18del	Likely pathogenic
443707	GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1	Likely pathogenic
4813375	NM_001004320.2(AGMO):c.958-1G>C	Likely pathogenic

SpliceAI

3774 predictions. Top by Δscore:

Variant	Effect	Δscore
7:15365508:TCTTA:T	donor_loss	1.0000
7:15365509:CTTA:C	donor_loss	1.0000
7:15365510:TTA:T	donor_loss	1.0000
7:15365511:TA:T	donor_loss	1.0000
7:15365512:A:AG	donor_loss	1.0000
7:15365513:CCTC:C	donor_loss	1.0000
7:15365620:C:CC	acceptor_gain	1.0000
7:15366134:T:TA	donor_gain	1.0000
7:15385440:A:AC	donor_gain	1.0000
7:15385440:ACTT:A	donor_loss	1.0000
7:15385441:C:CC	donor_gain	1.0000
7:15385441:CT:C	donor_loss	1.0000
7:15385442:TTACA:T	donor_loss	1.0000
7:15385443:TACAG:T	donor_loss	1.0000
7:15385444:A:AC	donor_gain	1.0000
7:15385444:A:T	donor_loss	1.0000
7:15385444:ACAG:A	donor_gain	1.0000
7:15385445:C:CC	donor_gain	1.0000
7:15385445:CA:C	donor_gain	1.0000
7:15385445:CAG:C	donor_gain	1.0000
7:15385445:CAGC:C	donor_gain	1.0000
7:15385445:CAGCT:C	donor_gain	1.0000
7:15385559:TGACC:T	acceptor_loss	1.0000
7:15385560:GACC:G	acceptor_loss	1.0000
7:15385561:ACC:A	acceptor_loss	1.0000
7:15385562:CCT:C	acceptor_loss	1.0000
7:15385564:T:G	acceptor_loss	1.0000
7:15390665:TGTTA:T	donor_loss	1.0000
7:15390666:GTTAC:G	donor_loss	1.0000
7:15390667:TTAC:T	donor_loss	1.0000

AlphaMissense

2915 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:15544783:C:G	R133P	0.998
7:15394116:G:C	H225D	0.997
7:15431036:C:G	R161T	0.997
7:15431094:A:G	W142R	0.997
7:15431094:A:T	W142R	0.997
7:15394119:G:C	H224D	0.996
7:15394128:G:C	H221D	0.996
7:15418566:G:C	H201D	0.996
7:15431076:G:C	H148D	0.996
7:15431092:C:A	W142C	0.996
7:15431092:C:G	W142C	0.996
7:15544787:G:C	H132D	0.996
7:15390851:T:G	D244A	0.995
7:15390852:C:G	D244H	0.995
7:15394114:A:C	H225Q	0.995
7:15394114:A:T	H225Q	0.995
7:15431035:T:A	R161S	0.995
7:15431035:T:G	R161S	0.995
7:15431036:C:A	R161I	0.995
7:15431068:A:C	S150R	0.995
7:15431068:A:T	S150R	0.995
7:15431070:T:G	S150R	0.995
7:15431071:A:C	H149Q	0.995
7:15431071:A:T	H149Q	0.995
7:15431073:G:C	H149D	0.995
7:15431085:G:C	H145D	0.995
7:15390851:T:A	D244V	0.994
7:15390877:A:C	N235K	0.994
7:15390877:A:T	N235K	0.994
7:15431074:A:C	H148Q	0.994

dbSNP variants (sampled 300 via entrez): RS1000006026 (7:15395294 G>A,C,T), RS1000008478 (7:15426361 G>A), RS1000011931 (7:15459738 G>A,C), RS1000020862 (7:15245996 G>C,T), RS1000023743 (7:15345358 C>T), RS1000024856 (7:15535151 T>C), RS1000033197 (7:15430177 T>A), RS1000034588 (7:15370741 T>C,G), RS1000042779 (7:15316713 T>A,C), RS1000045842 (7:15230763 C>T), RS1000048885 (7:15332579 T>C), RS1000050228 (7:15136910 T>C), RS1000052102 (7:15173823 CT>C,CTT), RS1000055014 (7:15345144 A>C), RS1000060283 (7:15210517 T>A,C)

Disease associations

OMIM: gene MIM:613738 | disease phenotypes: MIM:192350, MIM:143890, MIM:101400

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal recessive
autism spectrum disorder	Limited	Autosomal dominant

Mondo (5): VACTERL/vater association (MONDO:0008642), hypercholesterolemia, familial, 1 (MONDO:0007750), Saethre-Chotzen syndrome (MONDO:0007042), autism spectrum disorder (MONDO:0005258), neurodevelopmental disorder (MONDO:0700092)

Orphanet (3): VACTERL/VATER association (Orphanet:887), Homozygous familial hypercholesterolemia (Orphanet:391665), Saethre-Chotzen syndrome (Orphanet:794)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST000568_7	Fasting blood glucose	3.000000e-44
GCST001436_13	Metabolic syndrome	1.000000e-13
GCST001762_601	Obesity-related traits	3.000000e-07
GCST002586_8	Fasting plasma glucose	3.000000e-11
GCST003451_1	Tuberculosis	2.000000e-06
GCST004070_16	Cerebrospinal P-tau181p levels	7.000000e-07
GCST005180_8	Homeostasis model assessment of beta-cell function	3.000000e-17
GCST006002_9	Blood sugar levels	5.000000e-13
GCST006483_42	Lung function (FVC)	1.000000e-08
GCST006483_43	Lung function (FVC)	8.000000e-07
GCST006867_57	Type 2 diabetes	3.000000e-19
GCST006979_724	Heel bone mineral density	1.000000e-10
GCST007429_20	Lung function (FVC)	7.000000e-12
GCST007432_177	FEV1	1.000000e-09
GCST007899_6	Fasting blood glucose	4.000000e-12
GCST008114_25	Type 2 diabetes	5.000000e-09
GCST008789_13	Adolescent idiopathic scoliosis	4.000000e-08
GCST009391_578	Metabolite levels	3.000000e-08
GCST010572_8	Sweet taste preference	3.000000e-06
GCST012489_80	Heel bone mineral density x serum urate levels interaction	5.000000e-09

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0000195	metabolic syndrome
EFO:0004847	age at onset
EFO:0004763	p-tau measurement
EFO:0004469	HOMA-B
EFO:0004468	glucose measurement
EFO:0004312	vital capacity
EFO:0009270	heel bone mineral density
EFO:0004314	forced expiratory volume
EFO:0010501	indole-3-propionate measurement
EFO:0010156	sweet liking measurement
EFO:0004531	urate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	3
Aflatoxin B1	decreases methylation, decreases expression	3
sodium arsenite	decreases expression, increases expression	2
methyleugenol	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Rosiglitazone	decreases expression	1
Acetaminophen	decreases expression	1
Cisplatin	decreases expression, affects cotreatment	1
Diethylhexyl Phthalate	decreases expression	1
Methotrexate	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Silicon Dioxide	decreases expression	1
Dronabinol	decreases expression	1
Thiram	increases expression	1
Valproic Acid	decreases methylation	1
Sodium Selenite	decreases expression	1
Palmitic Acid	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in 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
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
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
NCT06231459	PHASE4	COMPLETED	Expression of Pro- and Anti-inflammatory Cytokines During Anti-PCSK9 in Familial Hypercholesterolemia
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD