DMGDH

Summary

DMGDH (dimethylglycine dehydrogenase, HGNC:24475) is a protein-coding gene on chromosome 5q14.1, encoding Dimethylglycine dehydrogenase, mitochondrial (Q9UI17). Catalyzes the demethylation of N,N-dimethylglycine to sarcosine.

This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 29958 — RefSeq curated summary.

At a glance

• Gene–disease (curated): dimethylglycine dehydrogenase deficiency (Supportive, GenCC)
• GWAS associations: 25
• Clinical variants (ClinVar): 191 total — 2 likely-pathogenic
• Phenotypes (HPO): 8
• MANE Select transcript: NM_013391

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24475
Approved symbol	DMGDH
Name	dimethylglycine dehydrogenase
Location	5q14.1
Locus type	gene with protein product
Status	Approved
Aliases	ME2GLYDH
Ensembl gene	ENSG00000132837
Ensembl biotype	protein_coding
OMIM	605849
Entrez	29958

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 10 protein_coding, 4 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined

ENST00000255189, ENST00000517853, ENST00000518477, ENST00000518707, ENST00000520388, ENST00000520855, ENST00000521052, ENST00000523201, ENST00000523732, ENST00000524206, ENST00000895909, ENST00000895910, ENST00000895911, ENST00000895912, ENST00000895913, ENST00000895914, ENST00000895915, ENST00000960912

RefSeq mRNA: 1 — MANE Select: NM_013391 NM_013391

CCDS: CCDS4044

Canonical transcript exons

ENST00000255189 — 16 exons

Exon	Start	End
ENSE00001005084	79005273	79005407
ENSE00001168807	78997564	78998297
ENSE00002093955	79069520	79069674
ENSE00002485836	79055810	79055908
ENSE00003472320	79033239	79033408
ENSE00003478718	79044304	79044552
ENSE00003502764	79024271	79024330
ENSE00003507133	79026424	79026581
ENSE00003523992	79063613	79063787
ENSE00003530587	79029904	79030034
ENSE00003533486	79028433	79028650
ENSE00003556821	79054184	79054348
ENSE00003643398	79030833	79030998
ENSE00003669615	79032687	79032840
ENSE00003684521	79042283	79042481
ENSE00003686344	79051287	79051491

Expression profiles

Bgee: expression breadth ubiquitous, 188 present calls, max score 97.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.8388 / max 171.9056, expressed in 1226 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62261	3.8501	1122
62258	0.7049	210
62259	0.1462	41
62257	0.1260	39
62256	0.0116	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	97.17	gold quality
right lobe of liver	UBERON:0001114	96.22	gold quality
liver	UBERON:0002107	95.34	gold quality
adult mammalian kidney	UBERON:0000082	92.25	gold quality
kidney	UBERON:0002113	89.80	gold quality
cortex of kidney	UBERON:0001225	86.65	gold quality
metanephros cortex	UBERON:0010533	86.43	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.92	gold quality
renal medulla	UBERON:0000362	82.41	gold quality
right adrenal gland cortex	UBERON:0035827	78.43	gold quality
adrenal tissue	UBERON:0018303	78.06	gold quality
left adrenal gland	UBERON:0001234	76.98	gold quality
right adrenal gland	UBERON:0001233	76.43	gold quality
oocyte	CL:0000023	76.40	gold quality
left adrenal gland cortex	UBERON:0035825	76.32	gold quality
caput epididymis	UBERON:0004358	76.16	gold quality
secondary oocyte	CL:0000655	75.61	gold quality
buccal mucosa cell	CL:0002336	75.50	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.32	gold quality
adrenal gland	UBERON:0002369	75.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	75.01	gold quality
stromal cell of endometrium	CL:0002255	74.94	gold quality
corpus epididymis	UBERON:0004359	74.44	gold quality
adrenal cortex	UBERON:0001235	74.23	gold quality
metanephros	UBERON:0000081	74.00	gold quality
sperm	CL:0000019	73.71	gold quality
lower esophagus muscularis layer	UBERON:0035833	73.62	gold quality
lower esophagus	UBERON:0013473	73.55	gold quality
tibial nerve	UBERON:0001323	72.68	gold quality
subcutaneous adipose tissue	UBERON:0002190	72.35	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-99795	no	8.23
E-ANND-3	no	5.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting DMGDH, 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-5696	99.98	72.36	4487
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-7702	99.06	65.95	698
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-154-5P	98.92	66.65	733
HSA-MIR-548AO-5P	98.55	69.57	1362
HSA-MIR-548AX	98.55	69.58	1362
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-6881-5P	98.16	67.38	665

Literature-anchored findings (GeneRIF, showing 6)

• analysis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R (PMID:18937046)
• Genetic variation of DMGDH was associated with higher plasma insulin, increased insulin resistance and increased risk of incident diabetes. (PMID:25795213)
• In agreement with previous studies, we show that the genetic variant rs921943 in DMGDH is significantly associated with selenium status in United Kingdom pregnant women. (PMID:26675765)
• The structure-based analysis provided new insights into the kinetic properties of dimethylglycine dehydrogenase in particular with respect to oxygen reactivity. (PMID:27486859)
• In nonalcoholic fatty liver disease patient, the missense variant p.Ser646Pro (rs1805074) in DMGDH gene was significantly associated with disease severity and circulating levels of dimethylglycine. (PMID:27614103)
• Our study suggested markers in BHMT/BHMT2 and DMGDH might affect the risk of NSCL/P through pairwise interaction. (PMID:29356306)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dmgdh	ENSDARG00000025703
mus_musculus	Dmgdh	ENSMUSG00000042102
rattus_norvegicus	Dmgdh	ENSRNOG00000023588
caenorhabditis_elegans	Y37E3.17	WBGENE00021355

Paralogs (10): L2HGDH (ENSG00000087299), YPEL3 (ENSG00000090238), PDPR (ENSG00000090857), YPEL1 (ENSG00000100027), FOXRED1 (ENSG00000110074), YPEL5 (ENSG00000119801), SARDH (ENSG00000123453), AMT (ENSG00000145020), YPEL4 (ENSG00000166793), YPEL2 (ENSG00000175155)

Protein

Protein identifiers

Dimethylglycine dehydrogenase, mitochondrial — Q9UI17 (reviewed: Q9UI17)

Alternative names: ME2GLYDH

All UniProt accessions (5): E5RG50, E5RGI4, E5RK15, Q9UI17, Q8TCC6

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro.

Subunit / interactions. Monomer. Interacts with FLAD1; which promotes DMGDH holoenzyme formation.

Subcellular location. Mitochondrion.

Disease relevance. DMGDH deficiency (DMGDHD) [MIM:605850] Disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 1 FAD covalently per monomer.

Pathway. Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2.

Similarity. Belongs to the GcvT family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UI17-1	1	yes
Q9UI17-2	2

RefSeq proteins (1): NP_037523* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006076	FAD-dep_OxRdtase	Domain
IPR006222	GCVT_N	Domain
IPR013977	GcvT_C	Domain
IPR027266	TrmE/GcvT-like	Homologous_superfamily
IPR028896	GcvT/YgfZ/DmdA	Family
IPR029043	GcvT/YgfZ_C	Homologous_superfamily
IPR032503	FAO_M	Domain
IPR036188	FAD/NAD-bd_sf	Homologous_superfamily

Pfam: PF01266, PF01571, PF08669, PF16350

Enzyme classification (BRENDA):

• EC 1.5.8.4 — dimethylglycine dehydrogenase (BRENDA: 9 organisms, 23 substrates, 5 inhibitors, 22 Km, 18 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
N,N-DIMETHYLGLYCINE	0.039–32.2	15
FERROCENE	1.4–32.2	2
OXIDIZED 2,6-DICHLOROPHENOLINDOPHENOL	0.3–4.7	2
DIMETHYLGLYCINE	0.05	1
SARCOSINE	14.65	1

Catalyzed reactions (Rhea), 1 shown:

• (6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)(n) + N,N-dimethylglycine + oxidized [electron-transfer flavoprotein] + H(+) = (6R)-5,10-methylenetetrahydrofolyl-(gamma-L-Glu)(n) + sarcosine + reduced [electron-transfer flavoprotein] (RHEA:52856)

UniProt features (119 total): strand 38, helix 29, modified residue 18, turn 11, binding site 10, splice variant 4, sequence variant 4, sequence conflict 2, transit peptide 1, chain 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5L46	X-RAY DIFFRACTION	3.09

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UI17-F1	95.13	0.94

Functional residue map

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

Ligand- & substrate-binding residues (10): 676; 683–685; 744; 59–60; 80–81; 87–95; 219; 251; 397–402; 580–582

Post-translational modifications (18): 91, 114, 148, 148, 168, 223, 317, 319, 335, 360, 434, 434, 523, 523, 655, 655, 764, 795

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798163	Choline catabolism
R-HSA-1430728	Metabolism
R-HSA-71291	Metabolism of amino acids and derivatives

MSigDB gene sets: 86 (showing top): GOBP_MODIFIED_AMINO_ACID_CATABOLIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_AMINO_ACID_BETAINE_METABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS, GOBP_MODIFIED_AMINO_ACID_METABOLIC_PROCESS, ZHAN_MULTIPLE_MYELOMA_CD1_VS_CD2_UP, GOCC_MITOCHONDRIAL_MATRIX, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K27ME3, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, REACTOME_CHOLINE_CATABOLISM, GOBP_CHOLINE_METABOLIC_PROCESS, HHEX_TARGET_GENES, MAFG_TARGET_GENES

GO Biological Process (3): amino-acid betaine catabolic process (GO:0006579), choline metabolic process (GO:0019695), choline catabolic process (GO:0042426)

GO Molecular Function (5): RNA binding (GO:0003723), electron transfer activity (GO:0009055), dimethylglycine dehydrogenase activity (GO:0047865), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (3): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of amino acids and derivatives	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
amino-acid betaine metabolic process	1
modified amino acid catabolic process	1
metabolic process	1
choline metabolic process	1
biogenic amine catabolic process	1
nucleic acid binding	1
molecular_function	1
oxidoreductase activity, acting on the CH-NH group of donors, flavin as acceptor	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1830 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DMGDH	BHMT	Q93088	865
DMGDH	BHMT2	Q9H2M3	814
DMGDH	SHMT1	P34896	721
DMGDH	GNMT	Q14749	691
DMGDH	MTHFD1	P11586	658
DMGDH	MTHFD1L	Q6UB35	620
DMGDH	GART	P22102	602
DMGDH	MTHFD2	P13995	589
DMGDH	MTHFD2L	Q9H903	587
DMGDH	GLDC	P23378	585
DMGDH	CHDH	Q8NE62	580
DMGDH	SHMT2	P34897	563
DMGDH	IVD	P26440	559
DMGDH	MTR	Q99707	558
DMGDH	ALDH1L2	Q3SY69	532

IntAct

5 interactions, top by confidence:

A	B	Type	Score
DMGDH	H1-1	psi-mi:“MI:0915”(physical association)	0.400
DMGDH	DHRS4	psi-mi:“MI:0915”(physical association)	0.400
DMGDH	iglC2	psi-mi:“MI:0915”(physical association)	0.370
P		psi-mi:“MI:0914”(association)	0.350

BioGRID (12): DMGDH (Co-fractionation), DMGDH (Proximity Label-MS), DMGDH (Affinity Capture-MS), DHRS4 (Affinity Capture-MS), DMGDH (Cross-Linking-MS (XL-MS)), DMGDH (Protein-RNA), EEA1 (Cross-Linking-MS (XL-MS)), DMGDH (Co-fractionation), DMGDH (Co-fractionation), DMGDH (Co-fractionation), DMGDH (Co-fractionation), DMGDH (Affinity Capture-RNA)

ESM2 similar proteins: A2AV36, A2VD33, A4QP75, A7DZP8, A7MBI3, A8E657, F1QF89, O14531, O35098, O46504, O77784, P32232, P35520, P35571, P37142, P49080, Q17QJ1, Q29RU9, Q3KRD0, Q3TQB2, Q499N5, Q4R510, Q503J2, Q58H57, Q5EA45, Q5R9G9, Q62951, Q63342, Q64FG0, Q64FW2, Q6DCP1, Q6JQN1, Q6NUM9, Q6V1X1, Q7TSQ8, Q80YA7, Q8NCN5, Q8VHE9, Q90635, Q91YP0

Diamond homologs: B3QLF1, O46504, Q3M859, Q63342, Q64380, Q7TSQ8, Q8GAI3, Q8NCN5, Q99LB7, Q9DBT9, Q9UI17, Q9UL12, A0AIE9, A0RIL1, A4IQV5, A5GPL8, A5I9T7, A5IKL0, A6GXW3, A6TMY6, A7FRV3, A7GB83, A7Z6M4, A8MEG4, A9VH12, B0K242, B0KD95, B1HSN7, B1IEV3, B1KWD5, B2UG80, B7GH71, B7HBA0, B7HNZ1, B7IXL4, B7JMV1, B8DFY0, B8FT33, B8GNE2, B9IXL9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	103
Likely benign	43
Benign	25

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3341079	NM_013391.3(DMGDH):c.269G>A (p.Trp90Ter)	Likely pathogenic
4742	NM_013391.3(DMGDH):c.326A>G (p.His109Arg)	Likely pathogenic

SpliceAI

4780 predictions. Top by Δscore:

Variant	Effect	Δscore
5:79005268:CTCA:C	donor_loss	1.0000
5:79005269:TCAC:T	donor_loss	1.0000
5:79005270:CA:C	donor_loss	1.0000
5:79005271:A:AG	donor_loss	1.0000
5:79005272:C:CT	donor_loss	1.0000
5:79024266:CATA:C	donor_loss	1.0000
5:79024267:ATAC:A	donor_loss	1.0000
5:79024268:TACC:T	donor_loss	1.0000
5:79024269:A:T	donor_loss	1.0000
5:79024270:C:G	donor_loss	1.0000
5:79024326:TTCAT:T	acceptor_gain	1.0000
5:79024327:TCAT:T	acceptor_gain	1.0000
5:79024328:CAT:C	acceptor_gain	1.0000
5:79024328:CATC:C	acceptor_gain	1.0000
5:79024329:AT:A	acceptor_gain	1.0000
5:79024329:ATCTA:A	acceptor_loss	1.0000
5:79024330:TCTA:T	acceptor_loss	1.0000
5:79024331:C:CC	acceptor_gain	1.0000
5:79024331:CTA:C	acceptor_loss	1.0000
5:79024332:T:A	acceptor_loss	1.0000
5:79029899:CTTA:C	donor_loss	1.0000
5:79029902:ACCT:A	donor_loss	1.0000
5:79030030:CCCAC:C	acceptor_gain	1.0000
5:79030031:CCACC:C	acceptor_gain	1.0000
5:79030035:CT:C	acceptor_loss	1.0000
5:79030828:TTTA:T	donor_loss	1.0000
5:79030829:TTA:T	donor_loss	1.0000
5:79030830:TAC:T	donor_loss	1.0000
5:79030832:CCTT:C	donor_loss	1.0000
5:79030999:C:CC	acceptor_gain	1.0000

AlphaMissense

5630 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:79063621:A:G	W90R	1.000
5:79063621:A:T	W90R	1.000
5:79044490:G:C	H270D	0.999
5:79055849:G:C	S112R	0.999
5:79055849:G:T	S112R	0.999
5:79055851:T:G	S112R	0.999
5:79063619:C:A	W90C	0.999
5:79063619:C:G	W90C	0.999
5:79054322:A:C	S134R	0.998
5:79054322:A:T	S134R	0.998
5:79054324:T:G	S134R	0.998
5:79063618:G:C	H91D	0.998
5:79063629:C:T	G87E	0.998
5:79033400:A:T	I401K	0.997
5:79044396:C:G	R301P	0.997
5:79044423:C:G	R292P	0.997
5:79063700:A:C	S63R	0.997
5:79063700:A:T	S63R	0.997
5:79063702:T:G	S63R	0.997
5:79026570:A:G	W682R	0.996
5:79026570:A:T	W682R	0.996
5:79033400:A:C	I401R	0.996
5:79042477:A:C	F333L	0.996
5:79042477:A:T	F333L	0.996
5:79042479:A:G	F333L	0.996
5:79044328:A:G	W324R	0.996
5:79044328:A:T	W324R	0.996
5:79044424:G:T	R292S	0.996
5:79044488:A:C	H270Q	0.996
5:79044488:A:T	H270Q	0.996

dbSNP variants (sampled 300 via entrez): RS1000003587 (5:79033394 T>C), RS1000106992 (5:79026441 TGAA>T), RS1000159440 (5:79026776 G>C), RS1000204926 (5:79039013 A>G), RS1000241362 (5:79071343 A>G), RS1000249330 (5:79064667 G>C), RS1000267669 (5:79019380 A>G), RS1000342284 (5:79053377 G>A), RS1000399706 (5:79000801 A>G), RS1000399854 (5:79053140 T>C), RS1000410956 (5:79011747 G>A), RS1000464119 (5:79045711 G>T), RS1000465941 (5:79037195 T>C), RS1000473946 (5:79058120 T>A), RS1000517898 (5:79037489 C>G,T)

Disease associations

OMIM: gene MIM:605849 | disease phenotypes: MIM:605850

GenCC curated gene-disease

Disease	Classification	Inheritance
dimethylglycine dehydrogenase deficiency	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
dimethylglycine dehydrogenase deficiency	Limited	AR

Mondo (1): dimethylglycine dehydrogenase deficiency (MONDO:0011610)

Orphanet (1): Dimethylglycine dehydrogenase deficiency (Orphanet:243343)

HPO phenotypes

8 total (8 of 8 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001939	Abnormality of metabolism/homeostasis
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003750	Increased muscle fatiguability
HP:0012379	Abnormal circulating enzyme concentration or activity
HP:0031945	Elevated circulating N,N-dimethylglycine concentration
HP:0031946	Elevated urinary N,N-dimethylglycine level
HP:0410020	Fish odor

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST002039_10	Blood trace element (Se levels)	8.000000e-12
GCST002039_2	Blood trace element (Se levels)	9.000000e-28
GCST002670_1	Blood and toenail selenium levels	2.000000e-39
GCST002670_5	Blood and toenail selenium levels	5.000000e-14
GCST002670_6	Blood and toenail selenium levels	5.000000e-10
GCST002670_7	Blood and toenail selenium levels	2.000000e-15
GCST002670_8	Blood and toenail selenium levels	2.000000e-11
GCST002671_15	Toenail selenium levels	3.000000e-13
GCST002671_5	Toenail selenium levels	1.000000e-16
GCST003119_6	Urinary metabolites	2.000000e-28
GCST003358_1	Betaine levels in individuals undergoing cardiac evaluation	7.000000e-13
GCST006997_1	Cerebrospinal fluid t-tau levels in mild cognitive impairment	2.000000e-07
GCST008058_15	Estimated glomerular filtration rate	2.000000e-09
GCST008059_253	Estimated glomerular filtration rate	2.000000e-10
GCST009379_39	Type 2 diabetes	3.000000e-12
GCST009885_3	Salivary metabolite levels	1.000000e-12
GCST010173_140	Triglyceride levels	4.000000e-09
GCST010242_448	HDL cholesterol levels	4.000000e-11
GCST010244_137	Triglyceride levels	8.000000e-13
GCST012020_103	Serum metabolite levels	7.000000e-33
GCST012020_104	Serum metabolite levels	6.000000e-27
GCST012020_105	Serum metabolite levels	3.000000e-13
GCST012020_106	Serum metabolite levels	2.000000e-17
GCST012020_107	Serum metabolite levels	2.000000e-43
GCST012070_1	Plasma selenium concentration	9.000000e-08

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement
EFO:0007787	plasma betaine measurement
EFO:0004760	t-tau measurement
EFO:0010476	dimethylglycine measurement
EFO:0010637	salivary metabolite measurement
EFO:0004530	triglyceride measurement
EFO:0004612	high density lipoprotein cholesterol measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C565278	Dimethylglycine Dehydrogenase Deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	4
Acetaminophen	decreases expression, increases expression	2
Benzo(a)pyrene	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases expression, decreases methylation, affects expression	2
dicrotophos	decreases expression	1
methyleugenol	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
ortho-topolin riboside	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Troglitazone	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Estradiol	affects cotreatment, decreases expression	1
Melatonin	affects cotreatment, increases expression	1
Methotrexate	increases expression	1
Selenium	affects abundance	1
Testosterone	affects cotreatment, increases expression, decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Toluene	increases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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