SARDH

Summary

SARDH (sarcosine dehydrogenase, HGNC:10536) is a protein-coding gene on chromosome 9q34.2, encoding Sarcosine dehydrogenase, mitochondrial (Q9UL12). Catalyzes the last step of the oxidative degradation of choline to glycine.

This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 1757 — RefSeq curated summary.

At a glance

• Gene–disease (curated): sarcosinemia (Moderate, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 249 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 23
• MANE Select transcript: NM_001134707

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10536
Approved symbol	SARDH
Name	sarcosine dehydrogenase
Location	9q34.2
Locus type	gene with protein product
Status	Approved
Aliases	SDH
Ensembl gene	ENSG00000123453
Ensembl biotype	protein_coding
OMIM	604455
Entrez	1757

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 21 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000298628, ENST00000371867, ENST00000371868, ENST00000371872, ENST00000427237, ENST00000439388, ENST00000469828, ENST00000859362, ENST00000859363, ENST00000859364, ENST00000859365, ENST00000859366, ENST00000859367, ENST00000859368, ENST00000859369, ENST00000859370, ENST00000859371, ENST00000859372, ENST00000859373, ENST00000859374, ENST00000859375, ENST00000928146

RefSeq mRNA: 2 — MANE Select: NM_001134707 NM_001134707, NM_007101

CCDS: CCDS6978

Canonical transcript exons

ENST00000439388 — 21 exons

Exon	Start	End
ENSE00001787799	133738254	133738352
ENSE00003888843	133729765	133729865
ENSE00003890033	133671535	133671697
ENSE00003890832	133663560	133664014
ENSE00003890917	133732423	133732601
ENSE00003891001	133718938	133719042
ENSE00003891533	133708287	133708428
ENSE00003891897	133690380	133690527
ENSE00003892111	133712619	133712709
ENSE00003892144	133730064	133730187
ENSE00003893039	133704948	133705031
ENSE00003893078	133666735	133666870
ENSE00003893149	133694258	133694371
ENSE00003893254	133702916	133703029
ENSE00003893761	133731305	133731484
ENSE00003894383	133685193	133685286
ENSE00003894724	133670584	133670752
ENSE00003894791	133696223	133696361
ENSE00003894975	133733843	133734203
ENSE00003895121	133717326	133717455
ENSE00003895766	133713038	133713124

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 96.20.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5710 / max 136.7981, expressed in 641 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103032	1.2129	602
103033	0.2539	17
103025	0.0596	33
103024	0.0250	6
103030	0.0197	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	96.20	gold quality
buccal mucosa cell	CL:0002336	93.52	gold quality
liver	UBERON:0002107	90.79	gold quality
body of pancreas	UBERON:0001150	87.89	gold quality
corpus epididymis	UBERON:0004359	83.99	gold quality
pancreas	UBERON:0001264	79.24	gold quality
tendon of biceps brachii	UBERON:0008188	77.23	silver quality
adult mammalian kidney	UBERON:0000082	75.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.40	gold quality
granulocyte	CL:0000094	72.69	gold quality
ventricular zone	UBERON:0003053	71.50	gold quality
kidney	UBERON:0002113	71.05	gold quality
sural nerve	UBERON:0015488	70.32	gold quality
ganglionic eminence	UBERON:0004023	70.14	gold quality
right lung	UBERON:0002167	70.11	gold quality
lymph node	UBERON:0000029	69.95	gold quality
periodontal ligament	UBERON:0008266	69.81	gold quality
cingulate cortex	UBERON:0003027	69.39	gold quality
anterior cingulate cortex	UBERON:0009835	69.33	gold quality
caput epididymis	UBERON:0004358	69.22	gold quality
adenohypophysis	UBERON:0002196	69.10	gold quality
right frontal lobe	UBERON:0002810	69.05	gold quality
left adrenal gland cortex	UBERON:0035825	69.03	gold quality
male germ cell	CL:0000015	68.93	gold quality
sperm	CL:0000019	68.91	gold quality
left ovary	UBERON:0002119	68.88	gold quality
upper lobe of left lung	UBERON:0008952	68.80	gold quality
nucleus accumbens	UBERON:0001882	68.72	gold quality
right ovary	UBERON:0002118	68.72	gold quality
right adrenal gland	UBERON:0001233	68.65	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.13
E-HCAD-38	no	130.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting SARDH, 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-498-3P	99.91	71.27	1114
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-3122	99.50	66.33	821
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-6819-5P	97.96	66.59	1071
HSA-MIR-5581-5P	97.91	66.50	965
HSA-MIR-6737-5P	97.75	66.54	1044
HSA-MIR-6812-5P	97.56	65.39	1059
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-3649	96.85	64.10	340
HSA-MIR-6508-3P	96.73	65.48	576
HSA-MIR-4453	95.61	65.84	436
HSA-MIR-4538	95.61	65.34	449
HSA-MIR-492	94.02	64.46	413

Literature-anchored findings (GeneRIF, showing 6)

• Mutations in the SARDH gene are associated with sarcosinemia. (PMID:22825317)
• SARDH and TMEFF2 cooperate to modulate one-carbon metabolism and invasion of prostate cancer cells. (PMID:23824605)
• Expression of sarcosine metabolism-related proteins differed between ILC [invasive lobular carcinoma] and IDC [invasive ductal carcinoma]. (PMID:25837163)
• The SNPs rs2797840 and rs2073817 in SARDH may serve as an indicator for the occurrence of neural tube defects in the Chinese Han population, and rs2797840 may also be an indicator for folate content of brain. (PMID:27001897)
• Data first reported a deleterious c.551C>T mutation in SARDH in sporadic colorectal cancer (sCRC). SARDH was identified as a novel tumor suppressor gene and was abnormally decreased in sCRC at both the transcriptional and the translational level. SARDH overexpression inhibited the proliferation, migration, and invasion of CRC cell lines, whereas its depletion improved these processes. (PMID:30693981)
• SARDH methylation was found to be a significant prognostic factor for recurrencefree survival in renal cell carcinoma patients showing statistical independence from the clinical prognosticators, grade, stage and state of metastasis. (PMID:31545450)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sardh	ENSDARG00000058102
mus_musculus	Sardh	ENSMUSG00000009614
rattus_norvegicus	Sardh	ENSRNOG00000006916
drosophila_melanogaster	Sardh	FBGN0034276

Paralogs (10): L2HGDH (ENSG00000087299), YPEL3 (ENSG00000090238), PDPR (ENSG00000090857), YPEL1 (ENSG00000100027), FOXRED1 (ENSG00000110074), YPEL5 (ENSG00000119801), DMGDH (ENSG00000132837), AMT (ENSG00000145020), YPEL4 (ENSG00000166793), YPEL2 (ENSG00000175155)

Protein

Protein identifiers

Sarcosine dehydrogenase, mitochondrial — Q9UL12 (reviewed: Q9UL12)

Alternative names: BPR-2

All UniProt accessions (5): Q9UL12, Q5SYU9, Q5SYV1, Q5SYV2, Q9UL10

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the last step of the oxidative degradation of choline to glycine. Converts sarcosine into glycine.

Subcellular location. Mitochondrion matrix.

Tissue specificity. Expressed in pancreas, liver and kidney.

Disease relevance. Sarcosinemia (SARCOS) [MIM:268900] A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with intellectual disability and neurologic problems. 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; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1.

Similarity. Belongs to the GcvT family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UL12-1	1	yes
Q9UL12-2	2

RefSeq proteins (2): NP_001128179, NP_009032 (=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

Catalyzed reactions (Rhea), 1 shown:

• (6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)(n) + sarcosine + oxidized [electron-transfer flavoprotein] + H(+) = (6R)-5,10-methylenetetrahydrofolyl-(gamma-L-Glu)(n) + reduced [electron-transfer flavoprotein] + glycine (RHEA:19793)

UniProt features (26 total): modified residue 15, sequence variant 6, transit peptide 1, chain 1, splice variant 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UL12-F1	93.03	0.93

Functional residue map

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

Post-translational modifications (15): 559, 775, 777, 802, 802, 884, 884, 904, 904, 38, 108, 173, 173, 377, 391

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: 163 (showing top): GNF2_GSTM1, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GNF2_HPN, GOBP_MODIFIED_AMINO_ACID_CATABOLIC_PROCESS, SHEPARD_BMYB_MORPHOLINO_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GNF2_LCAT, CAIRO_HEPATOBLASTOMA_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GNF2_HPX, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, GOBP_AMINO_ACID_CATABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS

GO Biological Process (1): obsolete sarcosine catabolic process (GO:1901053)

GO Molecular Function (3): sarcosine dehydrogenase activity (GO:0008480), 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
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

1759 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SARDH	GNMT	Q14749	912
SARDH	BHMT	Q93088	712
SARDH	DHRS7B	Q6IAN0	661
SARDH	PIPOX	Q9P0Z9	653
SARDH	SHMT1	P34896	652
SARDH	CHDH	Q8NE62	623
SARDH	SHMT2	P34897	570
SARDH	FTCD	O95954	559
SARDH	GLDC	P23378	550
SARDH	MTHFR	P42898	533
SARDH	GART	P22102	532
SARDH	MTFMT	Q96DP5	531
SARDH	DHFR	P00374	524
SARDH	MTR	Q99707	523
SARDH	SLC25A32	Q9H2D1	516

IntAct

38 interactions, top by confidence:

A	B	Type	Score
CCT2	TXNDC9	psi-mi:“MI:0914”(association)	0.730
CCT3	TXNDC9	psi-mi:“MI:0914”(association)	0.640
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
RPUSD3	HSPD1	psi-mi:“MI:0914”(association)	0.530
SARDH	NPM1	psi-mi:“MI:0915”(physical association)	0.400
TRMU	IFT56	psi-mi:“MI:0914”(association)	0.350
FOXRED2	VWA8	psi-mi:“MI:0914”(association)	0.350
SHC2	VWA8	psi-mi:“MI:0914”(association)	0.350
YARS2	VWA8	psi-mi:“MI:0914”(association)	0.350
MRPS24	VWA8	psi-mi:“MI:0914”(association)	0.350
AMACR	VWA8	psi-mi:“MI:0914”(association)	0.350
ACSM5	VWA8	psi-mi:“MI:0914”(association)	0.350
RASL10B	VWA8	psi-mi:“MI:0914”(association)	0.350
AK4	VWA8	psi-mi:“MI:0914”(association)	0.350
FAHD1	VWA8	psi-mi:“MI:0914”(association)	0.350
GPR45	VWA8	psi-mi:“MI:0914”(association)	0.350
DKKL1	VWA8	psi-mi:“MI:0914”(association)	0.350
GZMH	DENND11	psi-mi:“MI:0914”(association)	0.350
C9orf163	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
KLHL14	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
NIPSNAP3A	NUDT19	psi-mi:“MI:0914”(association)	0.350
NDUFS7	NUDT19	psi-mi:“MI:0914”(association)	0.350
MRPS30		psi-mi:“MI:0914”(association)	0.350
STPG3	HAX1	psi-mi:“MI:0914”(association)	0.350
MRPS2	POLRMT	psi-mi:“MI:0914”(association)	0.350
ADAM7	RIOK3	psi-mi:“MI:0914”(association)	0.350
SNX21	ACOT8	psi-mi:“MI:0914”(association)	0.350
TAFAZZIN	BCKDK	psi-mi:“MI:0914”(association)	0.350
SLC25A10	BCKDK	psi-mi:“MI:0914”(association)	0.350
GCAT	BCKDK	psi-mi:“MI:0914”(association)	0.350

BioGRID (39): SARDH (Synthetic Lethality), SARDH (Proximity Label-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS), SARDH (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8QFQ6, A0A2R8RWN9, A0JN27, A5PKD9, B5DFK7, D3Z7P3, G3MWR8, O94925, P13264, Q01098, Q08DW9, Q14722, Q28528, Q28D01, Q2HJ19, Q2YDM2, Q4R766, Q5JUK3, Q5NVE6, Q5RIC0, Q5SRY7, Q5TA45, Q5XIJ5, Q5ZIN0, Q5ZJ01, Q5ZJX1, Q67FW5, Q6DCC5, Q6DD70, Q6DEY3, Q6GL10, Q6PCB6, Q6ZPR4, Q7RTP6, Q7ZVZ7, Q8BTG7, Q8C6G8, Q8CJ19, Q8N2K0, Q8TF64

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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	171
Likely benign	29
Benign	22

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
4681641	NM_001134707.2(SARDH):c.1568_1575dup (p.Gly526fs)	Pathogenic
2433137	NM_001134707.2(SARDH):c.1306del (p.Asp436fs)	Likely pathogenic

SpliceAI

4698 predictions. Top by Δscore:

Variant	Effect	Δscore
9:133666728:GACTC:G	donor_loss	1.0000
9:133666729:ACT:A	donor_loss	1.0000
9:133666730:CTCAC:C	donor_loss	1.0000
9:133666731:TCAC:T	donor_loss	1.0000
9:133666734:C:T	donor_loss	1.0000
9:133670582:A:AC	donor_gain	1.0000
9:133670582:ACT:A	donor_gain	1.0000
9:133670583:C:CC	donor_gain	1.0000
9:133670583:CTC:C	donor_gain	1.0000
9:133670583:CTCCT:C	donor_gain	1.0000
9:133670750:AGCC:A	acceptor_loss	1.0000
9:133670751:GCC:G	acceptor_loss	1.0000
9:133670752:CCT:C	acceptor_loss	1.0000
9:133670753:C:CA	acceptor_loss	1.0000
9:133670753:C:CC	acceptor_gain	1.0000
9:133671532:CACC:C	donor_loss	1.0000
9:133671533:A:AC	donor_gain	1.0000
9:133671533:AC:A	donor_gain	1.0000
9:133671534:C:CA	donor_loss	1.0000
9:133671534:C:CC	donor_gain	1.0000
9:133671534:CC:C	donor_gain	1.0000
9:133671534:CCT:C	donor_gain	1.0000
9:133671534:CCTTT:C	donor_gain	1.0000
9:133691629:A:AC	donor_gain	1.0000
9:133691630:C:CC	donor_gain	1.0000
9:133694252:CCATA:C	donor_loss	1.0000
9:133694253:CATA:C	donor_loss	1.0000
9:133694254:ATAC:A	donor_loss	1.0000
9:133694255:TA:T	donor_loss	1.0000
9:133694256:ACC:A	donor_loss	1.0000

AlphaMissense

5965 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:133732466:G:T	A156E	0.999
9:133713042:G:C	S411R	0.998
9:133713042:G:T	S411R	0.998
9:133713044:T:G	S411R	0.998
9:133713117:G:C	F386L	0.998
9:133713117:G:T	F386L	0.998
9:133713119:A:G	F386L	0.998
9:133729803:G:C	H293D	0.998
9:133732475:A:G	L153P	0.998
9:133732593:A:G	W114R	0.998
9:133732593:A:T	W114R	0.998
9:133733946:G:C	S76R	0.998
9:133733946:G:T	S76R	0.998
9:133733948:T:G	S76R	0.998
9:133717331:C:T	G382D	0.997
9:133717337:A:T	V380D	0.997
9:133719002:A:G	L319P	0.997
9:133719026:C:G	R311P	0.997
9:133719027:G:T	R311S	0.997
9:133729793:A:T	V296D	0.997
9:133730068:A:C	C270W	0.997
9:133730075:A:T	V268D	0.997
9:133731369:C:T	G209D	0.997
9:133732598:A:G	L112P	0.997
9:133732601:C:T	G111D	0.997
9:133733852:G:C	H108D	0.997
9:133733855:A:G	W107R	0.997
9:133733855:A:T	W107R	0.997
9:133708377:G:C	S460R	0.996
9:133708377:G:T	S460R	0.996

dbSNP variants (sampled 300 via entrez): RS1000015654 (9:133692070 G>A,T), RS1000031918 (9:133660467 T>TA), RS1000055650 (9:133713446 C>A,T), RS1000075801 (9:133681346 C>T), RS1000132090 (9:133712446 A>C,G), RS1000187206 (9:133721694 T>C), RS1000196411 (9:133671935 G>A), RS1000327254 (9:133699334 C>A), RS1000333391 (9:133737219 G>A,T), RS1000358367 (9:133682781 T>C), RS1000405877 (9:133737463 C>T), RS1000412574 (9:133682492 C>T), RS1000486819 (9:133704097 G>A,C), RS1000533106 (9:133713267 G>A,C), RS1000587844 (9:133709992 G>A)

Disease associations

OMIM: gene MIM:604455 | disease phenotypes: MIM:268900

GenCC curated gene-disease

Disease	Classification	Inheritance
sarcosinemia	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
sarcosinemia	Limited	AR

Mondo (1): sarcosinemia (MONDO:0010008)

Orphanet (1): Sarcosinemia (Orphanet:3129)

HPO phenotypes

23 total (23 of 23 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000486	Strabismus
HP:0000648	Optic atrophy
HP:0000712	Emotional lability
HP:0001251	Ataxia
HP:0001256	Mild intellectual disability
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001639	Hypertrophic cardiomyopathy
HP:0001642	Pulmonic stenosis
HP:0002069	Bilateral tonic-clonic seizure
HP:0002273	Tetraparesis
HP:0002360	Sleep disturbance
HP:0002371	Loss of speech
HP:0002465	Poor speech
HP:0007875	Congenital blindness
HP:0008610	Infantile sensorineural hearing impairment
HP:0008947	Floppy infant
HP:0010522	Dyslexia
HP:0010896	Hypersarcosinemia
HP:0010897	Hypersarcosinuria
HP:0011727	Peroneal muscle weakness
HP:0100022	Abnormality of movement

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003264_211	Post bronchodilator FEV1/FVC ratio	4.000000e-06
GCST003831_17	Asthma	5.000000e-06
GCST012020_23	Serum metabolite levels	6.000000e-22

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537236	Sarcosinemia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	3
Acetaminophen	decreases expression	2
Aflatoxin B1	affects expression, increases methylation	2
GSK-J4	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	affects expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
periodate-oxidized adenosine	affects expression	1
aflatoxin B2	affects methylation, increases methylation	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	decreases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Amiodarone	increases expression	1
Arsenic	affects expression	1
Carcinogens	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Formaldehyde	increases expression	1
Methapyrilene	increases methylation	1
Mutagens	increases expression	1
N-Nitrosopyrrolidine	decreases expression	1

Clinical trials (associated diseases)

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