CMAS

Summary

CMAS (cytidine monophosphate N-acetylneuraminic acid synthetase, HGNC:18290) is a protein-coding gene on chromosome 12p12.1, encoding N-acylneuraminate cytidylyltransferase (Q8NFW8). Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5’-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid.

This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5’-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55907 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability (Limited, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 54 total
• MANE Select transcript: NM_018686

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18290
Approved symbol	CMAS
Name	cytidine monophosphate N-acetylneuraminic acid synthetase
Location	12p12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000111726
Ensembl biotype	protein_coding
OMIM	603316
Entrez	55907

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000229329, ENST00000534981, ENST00000535610, ENST00000537658, ENST00000538498, ENST00000889996, ENST00000889997, ENST00000889998, ENST00000889999, ENST00000890000, ENST00000947440

RefSeq mRNA: 1 — MANE Select: NM_018686 NM_018686

CCDS: CCDS8696

Canonical transcript exons

ENST00000229329 — 8 exons

Exon	Start	End
ENSE00001161958	22058567	22058700
ENSE00001161973	22055149	22055291
ENSE00002205401	22046218	22046563
ENSE00002269626	22065121	22065668
ENSE00003566663	22061281	22061452
ENSE00003583489	22055455	22055610
ENSE00003656955	22060832	22060926
ENSE00003684901	22062281	22062434

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 97.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.0836 / max 343.8527, expressed in 1811 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
124694	16.7133	1802
124695	2.4337	1295
124696	0.9366	547

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	97.44	gold quality
mucosa of transverse colon	UBERON:0004991	97.30	gold quality
rectum	UBERON:0001052	96.88	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	96.63	gold quality
lower esophagus mucosa	UBERON:0035834	96.45	gold quality
right testis	UBERON:0004534	96.44	gold quality
right adrenal gland cortex	UBERON:0035827	96.44	gold quality
right adrenal gland	UBERON:0001233	96.33	gold quality
left testis	UBERON:0004533	96.07	gold quality
prefrontal cortex	UBERON:0000451	96.05	gold quality
anterior cingulate cortex	UBERON:0009835	95.99	gold quality
left adrenal gland	UBERON:0001234	95.98	gold quality
cingulate cortex	UBERON:0003027	95.92	gold quality
esophagus mucosa	UBERON:0002469	95.78	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.59	gold quality
left adrenal gland cortex	UBERON:0035825	95.54	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.50	gold quality
cortical plate	UBERON:0005343	95.46	gold quality
testis	UBERON:0000473	95.29	gold quality
adrenal gland	UBERON:0002369	95.29	gold quality
transverse colon	UBERON:0001157	95.20	gold quality
right frontal lobe	UBERON:0002810	95.00	gold quality
adrenal cortex	UBERON:0001235	94.61	gold quality
amygdala	UBERON:0001876	94.31	gold quality
islet of Langerhans	UBERON:0000006	94.30	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.93	gold quality
neocortex	UBERON:0001950	93.85	gold quality
esophagus	UBERON:0001043	93.83	gold quality
frontal cortex	UBERON:0001870	93.82	gold quality
frontal lobe	UBERON:0016525	93.82	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	37.14
E-CURD-112	yes	34.25
E-MTAB-10042	yes	30.37
E-HCAD-6	yes	18.40
E-MTAB-9067	yes	11.60
E-ANND-3	yes	8.61
E-MTAB-9388	yes	8.20

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

37 targeting CMAS, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-1276	99.36	68.18	1642
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-2116-5P	99.32	69.34	1273
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-520G-3P	98.91	67.38	1914
HSA-MIR-520H	98.91	67.38	1914
HSA-MIR-2355-5P	98.83	65.51	1589

Literature-anchored findings (GeneRIF, showing 2)

• FXR1P interacts with CMAS, and that FXR1P may enhance the activation of sialic acid via interaction with CMAS, and increase GM1 levels to affect the development of the nervous system, thus providing evidence for further research into the pathogenesis of FXS. (PMID:27357083)
• A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family. (PMID:31495922)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cmasa	ENSDARG00000057334
danio_rerio		ENSDARG00000089903
mus_musculus	Cmas	ENSMUSG00000030282
rattus_norvegicus	Cmas	ENSRNOG00000013816
drosophila_melanogaster	Csas	FBGN0052220

Protein

Protein identifiers

N-acylneuraminate cytidylyltransferase — Q8NFW8 (reviewed: Q8NFW8)

Alternative names: CMP-N-acetylneuraminic acid synthase

All UniProt accessions (3): Q8NFW8, F5GYM0, F5H296

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5’-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN).

Subunit / interactions. Homotetramer; the active enzyme is formed by a dimer of dimers.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed. Expressed in pancreas, kidney, liver, skeletal muscle, lung, placenta, brain, heart, colon, PBL, small intestine, ovary, testis, prostate, thymus and spleen.

Domain organisation. The BC2 (basic cluster 2) motif is necessary and sufficient for the nuclear localization and contains the catalytic active site. The localization in the nucleus is however not required for the enzyme activity.

Pathway. Amino-sugar metabolism; N-acetylneuraminate metabolism.

Similarity. Belongs to the CMP-NeuNAc synthase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NFW8-1	1	yes
Q8NFW8-2	2

RefSeq proteins (1): NP_061156* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003329	Cytidylyl_trans	Family
IPR023214	HAD_sf	Homologous_superfamily
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR036412	HAD-like_sf	Homologous_superfamily
IPR050793	CMP-NeuNAc_synthase	Family

Pfam: PF02348

Enzyme classification (BRENDA):

• EC 2.7.7.43 — N-acylneuraminate cytidylyltransferase (BRENDA: 26 organisms, 107 substrates, 97 inhibitors, 125 Km, 43 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
CTP	0.0005–4	38
N-ACETYLNEURAMINATE	0.0004–7.6	37
N-GLYCOLYLNEURAMINATE	1.2–6.2	9
N-ACYLNEURAMINATE	0.127–4	8
N-ACETYL-4-O-ACETYLNEURAMINATE	1.2–1.4	3
N-ACETYLNEURAMINIC ACID	0.26–2.8	3
SIALIC ACID	0.045–0.07	3
2-KETO-3-DEOXY-D-GLYCERO-D-GALACTO-NONONIC ACID	0.56–3	2
3-DEOXY-D-GLYCERO-D-GALACTO-NONONATE	0.56–3	2
8-O-METHYL-N-ACETYLNEURAMINATE	1.5–5.3	2
N-ACETYL-7(8)-O-ACETYLNEURAMINATE	1.1–1.6	2
N-GLYCOLNEURAMINATE	1.483–3.5	2
N-GLYCOLYLNEURAMINIC ACID	0.16–0.35	2
N-METHYLGLYCOLYLNEURAMINATE	2–7	2
4-O-METHYL-N-ACETYLNEURAMINATE	2.5	1

Catalyzed reactions (Rhea), 1 shown:

• an N-acylneuraminate + CTP = a CMP-N-acyl-beta-neuraminate + diphosphate (RHEA:11344)

UniProt features (17 total): binding site 6, modified residue 3, short sequence motif 3, chain 1, region of interest 1, splice variant 1, sequence conflict 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NFW8-F1	88.10	0.72

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): 201

Ligand- & substrate-binding residues (6): 122; 143; 52; 62; 111; 120

Post-translational modifications (3): 1, 37, 52

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-4085001	Sialic acid metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-446193	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-446219	Synthesis of substrates in N-glycan biosythesis
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 181 (showing top): AP1_01, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, IVANOVA_HEMATOPOIESIS_MATURE_CELL, 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, AP1_Q4_01, GATA3_01, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, TGCTGAY_UNKNOWN, BACH2_01

GO Biological Process (3): N-acetylneuraminate metabolic process (GO:0006054), CMP-N-acetylneuraminate biosynthetic process (GO:0006055), obsolete glycosylation (GO:0070085)

GO Molecular Function (3): N-acylneuraminate cytidylyltransferase activity (GO:0008781), transferase activity (GO:0016740), nucleotidyltransferase activity (GO:0016779)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1
Asparagine N-linked glycosylation	1
Post-translational protein modification	1
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
amino sugar metabolic process	1
carboxylic acid metabolic process	1
nucleotide-sugar biosynthetic process	1
CMP-N-acetylneuraminate metabolic process	1
cytidylyltransferase activity	1
catalytic activity	1
transferase activity, transferring phosphorus-containing groups	1
intracellular membrane-bounded organelle	1
nuclear lumen	1

Protein interactions and networks

STRING

846 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CMAS	NANS	Q9NR45	735
CMAS	SLC35A1	P78382	703
CMAS	NANP	Q8TBE9	652
CMAS	GNE	Q9Y223	621
CMAS	ST3GAL4	Q11206	567
CMAS	NPL	Q9BXD5	524
CMAS	ST6GAL1	P15907	491
CMAS	SLC17A5	Q9NRA2	471
CMAS	ST8SIA5	O15466	463
CMAS	NEU4	Q8WWR8	457
CMAS	NEU1	Q99519	406
CMAS	ST3GAL1	Q11201	377
CMAS	TCHH	Q07283	372
CMAS	ATOSB	Q7L5A3	370
CMAS	SCARA3	Q6AZY7	356

IntAct

98 interactions, top by confidence:

A	B	Type	Score
LIMS1	ILK	psi-mi:“MI:0914”(association)	0.960
CLOCK	BMAL1	psi-mi:“MI:0914”(association)	0.880
MED17	MED19	psi-mi:“MI:0914”(association)	0.840
FAM98A	HERC2	psi-mi:“MI:0914”(association)	0.640
CHCHD10	CLPX	psi-mi:“MI:0914”(association)	0.640
RPL28	MAGEB2	psi-mi:“MI:0914”(association)	0.560
LIMS1	TYMS	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
CMAS	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.440
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
CMAS	HSPD1	psi-mi:“MI:0915”(physical association)	0.400
Cep170	NEURL4	psi-mi:“MI:0914”(association)	0.350
Srp72		psi-mi:“MI:0914”(association)	0.350
C1qbp		psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
FGL1	DNM1L	psi-mi:“MI:0914”(association)	0.350
CHCHD10	ZNF593	psi-mi:“MI:0914”(association)	0.350
LUC7L	CASC3	psi-mi:“MI:0914”(association)	0.350
DBNL	ECI2	psi-mi:“MI:0914”(association)	0.350
RAD1	PRMT5	psi-mi:“MI:0914”(association)	0.350

BioGRID (155): CMAS (Affinity Capture-MS), CMAS (Affinity Capture-MS), CMAS (Affinity Capture-MS), CMAS (Affinity Capture-MS), CMAS (Affinity Capture-MS), CMAS (Affinity Capture-MS), CMAS (Affinity Capture-MS), CMAS (Co-fractionation), DDB1 (Co-fractionation), NAA15 (Co-fractionation), CMAS (Proximity Label-MS), CMAS (Proximity Label-MS), CMAS (Affinity Capture-MS), CMAS (Affinity Capture-MS), CMAS (Affinity Capture-MS)

ESM2 similar proteins: A0A1S3YEG8, A0A1S4BJT3, A7M6E7, A7M6E8, B2RFT0, B4G0F3, B5WWZ8, B5WWZ9, E0CTF3, E9Q4Z2, F4JVN6, H9BFW7, K7WIZ6, O00763, O74351, O82663, P31039, P32296, P69060, P93568, Q02166, Q0QF01, Q10D00, Q28ED0, Q3SZM5, Q5R6R5, Q5Z856, Q6PA58, Q6TAS3, Q6Z836, Q6ZDY8, Q6ZHE5, Q801S2, Q8K2B3, Q8L5Z4, Q8LPN3, Q8NFW8, Q8ZD80, Q91WT9, Q93Z70

Diamond homologs: A0A140N5J7, A4TN08, A7FJV8, A7HIF1, A9R7J3, B1JQT6, B2KA34, B4UIT7, B8JBN7, H9BFW7, P0ABZ4, P0ABZ5, P0DY07, P67653, P67654, P69060, Q083F6, Q0E671, Q0P8U6, Q1CA60, Q1CGH5, Q2IH80, Q2M5Q2, Q3SZM5, Q5R6R5, Q66CH8, Q6G4U6, Q8NFW8, Q8Z3G5, Q8ZB47, Q8ZGA4, Q8ZLS0, Q90WG6, Q99KK2, A5FBA3, P0A0Z7, P0A0Z8, P0A4V0, P0A4V1, P13266

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1144 predictions. Top by Δscore:

Variant	Effect	Δscore
12:22055148:GT:G	acceptor_gain	1.0000
12:22055452:AAGAG:A	acceptor_gain	1.0000
12:22055453:A:AG	acceptor_gain	1.0000
12:22055454:G:GG	acceptor_gain	1.0000
12:22055454:GA:G	acceptor_gain	1.0000
12:22055607:GGAG:G	donor_gain	1.0000
12:22055608:G:GT	donor_gain	1.0000
12:22055608:G:T	donor_gain	1.0000
12:22055609:A:T	donor_gain	1.0000
12:22055610:GGT:G	donor_loss	1.0000
12:22055611:G:GA	donor_loss	1.0000
12:22055612:T:A	donor_loss	1.0000
12:22058562:TTTAG:T	acceptor_loss	1.0000
12:22058565:A:AG	acceptor_gain	1.0000
12:22058565:A:C	acceptor_loss	1.0000
12:22058566:G:GG	acceptor_gain	1.0000
12:22058566:GTT:G	acceptor_gain	1.0000
12:22058566:GTTC:G	acceptor_gain	1.0000
12:22060827:TTTA:T	acceptor_loss	1.0000
12:22060828:TTA:T	acceptor_loss	1.0000
12:22060829:TA:T	acceptor_loss	1.0000
12:22060830:A:AG	acceptor_gain	1.0000
12:22060830:AG:A	acceptor_gain	1.0000
12:22060830:AGGG:A	acceptor_loss	1.0000
12:22060830:AGGGT:A	acceptor_gain	1.0000
12:22060831:G:GG	acceptor_gain	1.0000
12:22060831:G:GT	acceptor_loss	1.0000
12:22060831:GG:G	acceptor_gain	1.0000
12:22060831:GGGT:G	acceptor_gain	1.0000
12:22060831:GGGTG:G	acceptor_gain	1.0000

AlphaMissense

2813 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:22046486:G:C	K61N	1.000
12:22046486:G:T	K61N	1.000
12:22055589:T:A	W180R	1.000
12:22055589:T:C	W180R	1.000
12:22046443:C:A	A47D	0.999
12:22046455:C:A	A51D	0.999
12:22046484:A:G	K61E	0.999
12:22046485:A:T	K61M	0.999
12:22046489:C:A	N62K	0.999
12:22046489:C:G	N62K	0.999
12:22046539:C:A	A79D	0.999
12:22055153:T:A	W89R	0.999
12:22055153:T:C	W89R	0.999
12:22055157:T:A	V90D	0.999
12:22055159:T:C	S91P	0.999
12:22055190:C:A	A101D	0.999
12:22055220:G:C	R111T	0.999
12:22055221:A:C	R111S	0.999
12:22055221:A:T	R111S	0.999
12:22055273:T:C	F129L	0.999
12:22055274:T:C	F129S	0.999
12:22055275:T:A	F129L	0.999
12:22055275:T:G	F129L	0.999
12:22055553:T:C	S168P	0.999
12:22055557:T:A	V169D	0.999
12:22055566:T:A	V172D	0.999
12:22055587:G:C	R179P	0.999
12:22055590:G:C	W180S	0.999
12:22055591:G:C	W180C	0.999
12:22055591:G:T	W180C	0.999

dbSNP variants (sampled 300 via entrez): RS1000063281 (12:22063270 T>C,G), RS1000169303 (12:22052489 G>A), RS1000318991 (12:22046157 C>A,G,T), RS1000644341 (12:22052269 G>C), RS1000844079 (12:22065005 T>C), RS1000899515 (12:22058327 A>C,G), RS1000996453 (12:22057931 G>A), RS1001065237 (12:22064275 T>A,C), RS1001069471 (12:22057616 G>C), RS1001094630 (12:22045777 C>A,T), RS1001508930 (12:22065420 G>A,C,T), RS1001710479 (12:22061070 A>G), RS1001914036 (12:22053488 G>A), RS1001989620 (12:22047505 C>T), RS1002020776 (12:22047262 T>C)

Disease associations

OMIM: gene MIM:603316 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability	Limited	Autosomal recessive

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST000894_4	Entorhinal cortical thickness	6.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004840	cortical thickness

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects methylation, decreases expression	2
aristolochic acid I	increases expression	1
dicrotophos	decreases expression	1
N-acetylmannosamine	affects abundance	1
triphenyl phosphate	affects expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	increases abundance, increases expression	1
cobaltous chloride	increases expression	1
perfluorooctanoic acid	increases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
nutlin 3	increases secretion, affects cotreatment	1
abrine	decreases expression	1
bisphenol S	increases expression	1
Arsenic	increases abundance, increases expression	1
Cytidine Monophosphate N-Acetylneuraminic Acid	affects abundance	1
Dactinomycin	affects cotreatment, increases secretion	1
Ivermectin	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
N-Acetylneuraminic Acid	affects abundance	1
Lactic Acid	decreases expression	1
Particulate Matter	increases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1M2	Abcam K-562 CMAS KO	Cancer cell line	Female
CVCL_D2IM	Abcam Raji CMAS KO	Cancer cell line	Male
CVCL_SJ32	HAP1 CMAS (-)	Cancer cell line	Male
CVCL_UQ34	Abcam Jurkat CMAS KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders