PMM1

Summary

PMM1 (phosphomannomutase 1, HGNC:9114) is a protein-coding gene on chromosome 22q13.2, encoding Phosphomannomutase 1 (Q92871). Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins.

Source: NCBI Gene 5372 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 58 total — 1 likely-pathogenic
• MANE Select transcript: NM_002676

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9114
Approved symbol	PMM1
Name	phosphomannomutase 1
Location	22q13.2
Locus type	gene with protein product
Status	Approved
Aliases	Sec53
Ensembl gene	ENSG00000100417
Ensembl biotype	protein_coding
OMIM	601786
Entrez	5372

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 16 protein_coding, 6 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000216259, ENST00000414636, ENST00000463617, ENST00000466645, ENST00000472620, ENST00000478337, ENST00000482178, ENST00000485648, ENST00000493389, ENST00000896615, ENST00000896616, ENST00000896617, ENST00000896618, ENST00000896619, ENST00000896620, ENST00000940468, ENST00000940469, ENST00000940470, ENST00000940471, ENST00000940472, ENST00000949536, ENST00000949537, ENST00000949538, ENST00000949539

RefSeq mRNA: 1 — MANE Select: NM_002676 NM_002676

CCDS: CCDS14020

Canonical transcript exons

ENST00000216259 — 8 exons

Exon	Start	End
ENSE00000655964	41583959	41584058
ENSE00001830264	41576900	41577440
ENSE00001862620	41589719	41589840
ENSE00003502121	41586076	41586193
ENSE00003573296	41577808	41577923
ENSE00003619981	41584527	41584603
ENSE00003624734	41584281	41584372
ENSE00003626761	41578806	41578881

Expression profiles

Bgee: expression breadth ubiquitous, 271 present calls, max score 98.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.7241 / max 102.8609, expressed in 1812 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194368	21.9264	1810
194369	0.7977	472

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	98.70	gold quality
mucosa of transverse colon	UBERON:0004991	96.33	gold quality
body of stomach	UBERON:0001161	95.88	gold quality
right lobe of liver	UBERON:0001114	95.82	gold quality
nucleus accumbens	UBERON:0001882	95.49	gold quality
right frontal lobe	UBERON:0002810	95.30	gold quality
right adrenal gland	UBERON:0001233	95.17	gold quality
right lung	UBERON:0002167	95.10	gold quality
left adrenal gland	UBERON:0001234	95.04	gold quality
right adrenal gland cortex	UBERON:0035827	94.87	gold quality
cingulate cortex	UBERON:0003027	94.83	gold quality
left adrenal gland cortex	UBERON:0035825	94.83	gold quality
left ovary	UBERON:0002119	94.80	gold quality
anterior cingulate cortex	UBERON:0009835	94.80	gold quality
putamen	UBERON:0001874	94.77	gold quality
right ovary	UBERON:0002118	94.71	gold quality
esophagus mucosa	UBERON:0002469	94.67	gold quality
prefrontal cortex	UBERON:0000451	94.64	gold quality
right uterine tube	UBERON:0001302	94.58	gold quality
caudate nucleus	UBERON:0001873	94.58	gold quality
adrenal cortex	UBERON:0001235	94.29	gold quality
amygdala	UBERON:0001876	94.13	gold quality
transverse colon	UBERON:0001157	93.87	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.85	gold quality
esophagus	UBERON:0001043	93.62	gold quality
stromal cell of endometrium	CL:0002255	93.57	gold quality
endocervix	UBERON:0000458	93.56	gold quality
popliteal artery	UBERON:0002250	93.49	gold quality
tibial artery	UBERON:0007610	93.48	gold quality
pharyngeal mucosa	UBERON:0000355	93.37	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting PMM1, 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-5193	100.00	67.26	1744
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-3191-3P	99.45	63.94	356
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4504	99.10	69.14	1328
HSA-MIR-2117	98.48	67.97	1307
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4693-5P	97.35	67.02	1234
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-4471	95.11	66.84	755

Literature-anchored findings (GeneRIF, showing 7)

• Mutations in phosphomannomutase is associated with ophthalmic manifestations of congenital disorder of glycosylation type 1a (PMID:12789572)
• human alpha-phosphomannomutase 1 crystallographic structure reveals the structural basis of congenital disorder of glycosylation type 1a (PMID:16540464)
• analysis of mental development in a patient with phosphomannomutase deficiency who is compound heterozygous for T237R/C241S mutations [case report] (PMID:17186415)
• The genes GUS and PMM1 are recommended for normalization purposes in gene expression studies of liver tissue from patients with chronic hepatitis. (PMID:18591914)
• PMM1 is responsible for the degradation of Glc-1,6-P(2) in brain (PMID:18927083)
• a triple mutant of phospomannomutase1 that retains mutase and phosphatase activity, but is unable to bind inosine monophosphate, was characterized. (PMID:29261720)
• The 1.93 A resolution structure of PMM1 complexed with inosine monophosphate (IMP) was determined. The structure reveals IMP bound at the substrate recruitment site, thus inhibiting the mutase activity while simultaneously activating a phosphatase activity (IMP Kact = 1.5 muM) resulting from the hydrolysis of the phospho-enzyme. (PMID:29695157)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pmm1	ENSDARG00000038398
danio_rerio		ENSDARG00000115870
mus_musculus	Pmm1	ENSMUSG00000022474
rattus_norvegicus	Pmm1	ENSRNOG00000005358
drosophila_melanogaster	Pmm2	FBGN0036300
caenorhabditis_elegans		WBGENE00009925

Paralogs (1): PMM2 (ENSG00000140650)

Protein

Protein identifiers

Phosphomannomutase 1 — Q92871 (reviewed: Q92871)

Alternative names: PMMH-22

All UniProt accessions (2): Q92871, F8WFD5

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain.

Subunit / interactions. Homodimer.

Subcellular location. Cytoplasm.

Tissue specificity. Strong expression in liver, heart, brain, and pancreas; lower expression in skeletal muscle.

Activity regulation. IMP, a metabolite whose concentration is elevated in anoxia, inhibits phosphomannomutase and phosphoglucomutase activities and strongly enhances glucose-1,6-bisphosphatase activity.

Pathway. Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2.

Similarity. Belongs to the eukaryotic PMM family.

RefSeq proteins (1): NP_002667* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005002	PMM	Family
IPR006379	HAD-SF_hydro_IIB	Family
IPR023214	HAD_sf	Homologous_superfamily
IPR036412	HAD-like_sf	Homologous_superfamily
IPR043169	PMM_cap	Homologous_superfamily

Pfam: PF03332

Enzyme classification (BRENDA):

• EC 5.4.2.8 — phosphomannomutase (BRENDA: 45 organisms, 84 substrates, 44 inhibitors, 90 Km, 35 kcat entries)

Substrate kinetics (BRENDA)

11 substrates with measured Km, best-characterized 11. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ALPHA-D-GLUCOSE 1-PHOSPHATE	0.006–0.4516	31
ALPHA-D-MANNOSE 1-PHOSPHATE	0.0056–1.37	22
GLUCOSE 1-PHOSPHATE	0.0013–0.022	14
MANNOSE 1-PHOSPHATE	0.003–0.2	5
D-GLUCOSE-1-PHOSPHATE	0.0135–3	4
D-MANNOSE 1-PHOSPHATE	0.018–0.15	4
D-MANNOSE-1-PHOSPHATE	0.016–3.2	3
D-GLUCOSE 1-PHOSPHATE	0.0075–0.0654	2
2-DEOXYRIBOSE-1-PHOSPHATE	3.5	1
D-MANNOSE 6-PHOSPHATE	0.0482	1
MANNOSE 6-PHOSPHATE	0.074	1

Catalyzed reactions (Rhea), 1 shown:

• alpha-D-mannose 1-phosphate = D-mannose 6-phosphate (RHEA:11140)

UniProt features (50 total): binding site 13, strand 12, helix 12, turn 5, modified residue 2, sequence conflict 2, active site 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
2FUE	X-RAY DIFFRACTION	1.75
6CFV	X-RAY DIFFRACTION	1.92
6CFR	X-RAY DIFFRACTION	2.07
6CFS	X-RAY DIFFRACTION	2.07
2FUC	X-RAY DIFFRACTION	2.1
6CFU	X-RAY DIFFRACTION	2.24
6CFT	X-RAY DIFFRACTION	2.43

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92871-F1	93.09	0.86

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 (2): 19 (nucleophile); 21 (proton donor/acceptor)

Ligand- & substrate-binding residues (13): 186; 188; 190; 218; 230; 232; 235; 19; 21; 28; 132; 143 …

Post-translational modifications (2): 2, 242

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-446205	Synthesis of GDP-mannose

MSigDB gene sets: 196 (showing top): GOBP_RESPONSE_TO_PEPTIDE, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, HOSHIDA_LIVER_CANCER_LATE_RECURRENCE_DN, AFFAR_YY1_TARGETS_UP

GO Biological Process (5): mannose metabolic process (GO:0006013), protein N-linked glycosylation (GO:0006487), GDP-mannose biosynthetic process (GO:0009298), cellular response to leukemia inhibitory factor (GO:1990830), nucleoside phosphate biosynthetic process (GO:1901293)

GO Molecular Function (4): phosphomannomutase activity (GO:0004615), metal ion binding (GO:0046872), protein binding (GO:0005515), isomerase activity (GO:0016853)

GO Cellular Component (3): cytosol (GO:0005829), neuronal cell body (GO:0043025), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
hexose metabolic process	1
glycoprotein biosynthetic process	1
phosphomannomutase activity	1
nucleotide-sugar biosynthetic process	1
GDP-mannose metabolic process	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
nucleoside phosphate metabolic process	1
nucleobase-containing compound biosynthetic process	1
organophosphate biosynthetic process	1
intramolecular phosphotransferase activity	1
cation binding	1
binding	1
catalytic activity	1
cytoplasm	1
somatodendritic compartment	1
cell body	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1592 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PMM1	MPI	P34949	557
PMM1	GMPPB	Q9Y5P6	542
PMM1	GMPPA	Q96IJ6	500
PMM1	CSNK1D	P48730	497
PMM1	CRYM	Q14894	497
PMM1	HMOX2	P30519	492
PMM1	GPI	P06744	490
PMM1	DPM1	O60762	488
PMM1	CRYBB1	P53674	470
PMM1	DOLK	Q9UPQ8	465
PMM1	TPI1	P00938	457
PMM1	ALG6	Q9Y672	440
PMM1	SSTR1	P30872	429
PMM1	CRYBA1	P05813	426
PMM1	GALK1	P51570	425

IntAct

26 interactions, top by confidence:

A	B	Type	Score
PMM1	RAB6A	psi-mi:“MI:0915”(physical association)	0.670
RAB6A	PMM1	psi-mi:“MI:0915”(physical association)	0.670
PMM1	RAB6B	psi-mi:“MI:0915”(physical association)	0.560
RAB6A	PMM1	psi-mi:“MI:0915”(physical association)	0.560
PMM1	PMM2	psi-mi:“MI:0914”(association)	0.530
PMM1	MFHAS1	psi-mi:“MI:0407”(direct interaction)	0.440
	PMM1	psi-mi:“MI:0407”(direct interaction)	0.440
CACNA1A	PMM1	psi-mi:“MI:0915”(physical association)	0.370
PMM1	RCHY1	psi-mi:“MI:0915”(physical association)	0.370
ZSCAN26	TDG	psi-mi:“MI:0914”(association)	0.350
ABCA9	PMM2	psi-mi:“MI:0914”(association)	0.350
DDX28	UBA6	psi-mi:“MI:0914”(association)	0.350
VENTX	UBA6	psi-mi:“MI:0914”(association)	0.350
E2F3	MYO1C	psi-mi:“MI:0914”(association)	0.350
RAB6B	PMM1	psi-mi:“MI:0915”(physical association)	0.000
RAB6A	PMM1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (37): RAB6A (Two-hybrid), POTEE (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), VSIG8 (Affinity Capture-MS), PMM2 (Affinity Capture-MS), QRICH1 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), GNB2 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), RAB6A (Two-hybrid), PMM1 (Affinity Capture-MS), PMM2 (Affinity Capture-MS), POTEE (Affinity Capture-MS), QRICH1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0K9RL25, A0A0U1WZ18, A0A1S4A695, B4G0F3, B8BKI7, B9N1F9, C6JS30, E0CSI1, M2VWL5, O14023, O15305, O24653, O35077, O35621, O57656, O80840, P00949, P38652, Q02908, Q08DP0, Q1W374, Q1W377, Q1ZXC6, Q23651, Q259G4, Q29NT9, Q2R483, Q3SZJ9, Q3ULJ0, Q4R5E4, Q5TNH5, Q5XIZ6, Q5ZID6, Q5ZJ08, Q5ZKF6, Q60HD6, Q60LW7, Q7SYN4, Q7XPW5, Q8GWU0

Diamond homologs: A0A0K9RL25, A0A0U1WZ18, A0A1S4A695, M2VWL5, O15305, O35621, O43976, O80840, P07283, P31353, Q1W374, Q1W375, Q1W376, Q1W377, Q259G4, Q3SZJ9, Q54X03, Q60HD6, Q7XPW5, Q86B09, Q8SVM5, Q92871, Q9UTJ2, Q9VTZ6, Q9XUE6, Q9Z2M7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	46
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3600317	NM_002676.3(PMM1):c.388G>A (p.Glu130Lys)	Likely pathogenic

SpliceAI

1674 predictions. Top by Δscore:

Variant	Effect	Δscore
22:41577439:CC:C	acceptor_gain	1.0000
22:41577440:CC:C	acceptor_gain	1.0000
22:41577803:CTCA:C	donor_loss	1.0000
22:41577804:TCACA:T	donor_loss	1.0000
22:41577805:C:CC	donor_loss	1.0000
22:41577806:A:AC	donor_gain	1.0000
22:41577806:ACA:A	donor_loss	1.0000
22:41577807:C:CC	donor_gain	1.0000
22:41577807:CA:C	donor_gain	1.0000
22:41577807:CAG:C	donor_gain	1.0000
22:41577807:CAGG:C	donor_gain	1.0000
22:41577807:CAGGG:C	donor_gain	1.0000
22:41577822:T:A	donor_gain	1.0000
22:41577919:GCCTC:G	acceptor_gain	1.0000
22:41577920:CCTCC:C	acceptor_gain	1.0000
22:41577921:CTC:C	acceptor_gain	1.0000
22:41577922:TC:T	acceptor_gain	1.0000
22:41577923:CC:C	acceptor_gain	1.0000
22:41577924:C:A	acceptor_loss	1.0000
22:41577924:C:CC	acceptor_gain	1.0000
22:41577925:T:A	acceptor_loss	1.0000
22:41578879:TTT:T	acceptor_gain	1.0000
22:41578882:C:CC	acceptor_gain	1.0000
22:41583953:TGGTA:T	donor_loss	1.0000
22:41583954:GGTAC:G	donor_loss	1.0000
22:41583955:GTAC:G	donor_loss	1.0000
22:41583956:TA:T	donor_loss	1.0000
22:41583957:A:T	donor_loss	1.0000
22:41583958:C:CA	donor_loss	1.0000
22:41584054:TTCCA:T	acceptor_gain	1.0000

AlphaMissense

1734 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:41577429:G:C	D226E	0.999
22:41577429:G:T	D226E	0.999
22:41577430:T:A	D226V	0.999
22:41577430:T:G	D226A	0.999
22:41577824:C:T	G217E	0.999
22:41577829:G:C	F215L	0.999
22:41577829:G:T	F215L	0.999
22:41577831:A:G	F215L	0.999
22:41577880:C:A	K198N	0.999
22:41577880:C:G	K198N	0.999
22:41577910:G:C	S188R	0.999
22:41577910:G:T	S188R	0.999
22:41577912:T:G	S188R	0.999
22:41583974:G:C	F153L	0.999
22:41583974:G:T	F153L	0.999
22:41583976:A:G	F153L	0.999
22:41584008:C:T	G142D	0.999
22:41584022:G:C	N137K	0.999
22:41584022:G:T	N137K	0.999
22:41584567:C:T	G81E	0.999
22:41589744:T:A	D21V	0.999
22:41577430:T:C	D226G	0.998
22:41577431:C:G	D226H	0.998
22:41577824:C:A	G217V	0.998
22:41577825:C:A	G217W	0.998
22:41577881:T:A	K198M	0.998
22:41577882:T:C	K198E	0.998
22:41577882:T:G	K198Q	0.998
22:41577911:C:T	S188N	0.998
22:41583975:A:G	F153S	0.998

dbSNP variants (sampled 300 via entrez): RS1000042826 (22:41587128 G>T), RS1000098396 (22:41580574 C>T), RS1000126999 (22:41580006 C>T), RS1000499164 (22:41580267 G>A,C,T), RS1000841928 (22:41579633 C>T), RS1000918129 (22:41585641 G>A), RS1001076213 (22:41578996 C>G), RS1001098486 (22:41579259 C>T), RS1001759819 (22:41589861 C>A,T), RS1001842346 (22:41578233 G>T), RS1001939846 (22:41579341 C>G), RS1001991139 (22:41586018 A>C), RS1002022381 (22:41585714 A>T), RS1002601086 (22:41582000 C>T), RS1002658647 (22:41589271 A>G)

Disease associations

OMIM: gene MIM:601786 | disease phenotypes: MIM:617260

GenCC curated gene-disease

Mondo (1): global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (MONDO:0014994)

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003043_197	Inflammatory bowel disease	3.000000e-06
GCST003044_35	Crohn’s disease	2.000000e-10
GCST005232_52	Neuroticism	3.000000e-18
GCST010002_83	Refractive error	2.000000e-27
GCST010143_2	Meat-related diet	4.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Cisplatin	affects expression, increases expression	2
Cyclosporine	increases expression, decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
ciglitazone	affects binding, increases expression	1
ICG 001	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	decreases expression	1
Decitabine	affects expression	1
Leflunomide	decreases expression	1
Cadmium	increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Estradiol	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	increases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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