ZNF142

Summary

ZNF142 (zinc finger protein 142, HGNC:12927) is a protein-coding gene on chromosome 2q35, encoding Zinc finger protein 142 (P52746). May be involved in transcriptional regulation.

The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 7701 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with impaired speech and hyperkinetic movements (Strong, GenCC)
• GWAS associations: 5
• Clinical variants (ClinVar): 460 total — 23 pathogenic, 16 likely-pathogenic
• Phenotypes (HPO): 17
• MANE Select transcript: NM_001379659

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12927
Approved symbol	ZNF142
Name	zinc finger protein 142
Location	2q35
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0236, pHZ-49
Ensembl gene	ENSG00000115568
Ensembl biotype	protein_coding
OMIM	604083
Entrez	7701

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 nonsense_mediated_decay

ENST00000411696, ENST00000433921, ENST00000440934, ENST00000449707, ENST00000450560, ENST00000450765, ENST00000906832, ENST00000906833, ENST00000906834, ENST00000906835, ENST00000906836

RefSeq mRNA: 10 — MANE Select: NM_001379659 NM_001105537, NM_001366287, NM_001366288, NM_001366289, NM_001366290, NM_001366291, NM_001379659, NM_001379660, NM_001379661, NM_001379662

CCDS: CCDS42817, CCDS92944

Canonical transcript exons

ENST00000411696 — 11 exons

Exon	Start	End
ENSE00001617046	218651701	218652300
ENSE00001648520	218659369	218659623
ENSE00001674751	218658980	218659130
ENSE00001743589	218658701	218658876
ENSE00001801615	218633329	218638808
ENSE00002296163	218656150	218656463
ENSE00003502787	218650359	218650526
ENSE00003534346	218648635	218649459
ENSE00003553588	218646171	218646348
ENSE00003664441	218640664	218640769
ENSE00003687077	218642028	218645064

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 84.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.9215 / max 72.8318, expressed in 1780 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
33979	12.4600	1768
33978	2.0477	1057
33977	0.4137	211

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	84.71	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.70	gold quality
olfactory bulb	UBERON:0002264	83.44	gold quality
type B pancreatic cell	CL:0000169	82.95	gold quality
granulocyte	CL:0000094	82.15	gold quality
ganglionic eminence	UBERON:0004023	82.14	gold quality
ventricular zone	UBERON:0003053	81.88	gold quality
hindlimb stylopod muscle	UBERON:0004252	80.92	gold quality
stromal cell of endometrium	CL:0002255	80.02	gold quality
gastrocnemius	UBERON:0001388	79.62	gold quality
muscle of leg	UBERON:0001383	79.40	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.31	gold quality
embryo	UBERON:0000922	79.19	gold quality
tendon of biceps brachii	UBERON:0008188	79.13	gold quality
right hemisphere of cerebellum	UBERON:0014890	79.13	gold quality
lower esophagus muscularis layer	UBERON:0035833	79.13	gold quality
lower esophagus	UBERON:0013473	79.10	gold quality
popliteal artery	UBERON:0002250	79.01	gold quality
tibial artery	UBERON:0007610	78.97	gold quality
muscle layer of sigmoid colon	UBERON:0035805	78.91	gold quality
cerebellar hemisphere	UBERON:0002245	78.75	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	78.72	gold quality
prefrontal cortex	UBERON:0000451	78.68	gold quality
cerebellar cortex	UBERON:0002129	78.68	gold quality
cerebellum	UBERON:0002037	78.57	gold quality
apex of heart	UBERON:0002098	78.43	gold quality
diaphragm	UBERON:0001103	77.95	gold quality
smooth muscle tissue	UBERON:0001135	77.84	gold quality
muscle organ	UBERON:0001630	77.81	gold quality
right frontal lobe	UBERON:0002810	77.79	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.43

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2583.1	ZNF142	Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605530

Literature-anchored findings (GeneRIF, showing 4)

• Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features. (PMID:34531528)
• Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. (PMID:35616059)
• ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review. (PMID:35618198)
• A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review. (PMID:37496384)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf142	ENSDARG00000061373
mus_musculus	Zfp142	ENSMUSG00000026135
rattus_norvegicus	Zfp142	ENSRNOG00000022414

Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)

Protein

Protein identifiers

Zinc finger protein 142 — P52746 (reviewed: P52746)

All UniProt accessions (5): P52746, A0A7P0N7C4, C9J055, F2Z2H3, H7C414

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Disease relevance. Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) [MIM:618425] An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, delayed walking, poor or absent speech, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some patients develop seizures. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (10): NP_001099007, NP_001353216, NP_001353217, NP_001353218, NP_001353219, NP_001353220, NP_001366588, NP_001366589, NP_001366590, NP_001366591 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR056438	Znf-C2H2_CTCF	Domain
IPR057828	Znf_C2H2_ZNF142_13th	Domain
IPR057829	Znf_C2H2_ZN142_21/23	Domain

Pfam: PF00096, PF13912, PF23574, PF23611, PF23612

UniProt features (58 total): zinc finger region 31, region of interest 8, sequence variant 7, compositionally biased region 4, cross-link 4, sequence conflict 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P52746-F1	61.51	0.01

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 (5): 154, 594, 1193, 1242, 1591

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, DANG_BOUND_BY_MYC, PARENT_MTOR_SIGNALING_UP, BLALOCK_ALZHEIMERS_DISEASE_DN, BENPORATH_MYC_MAX_TARGETS, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_DN, GSE13522_WT_VS_IFNAR_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, NKX2_2_TARGET_GENES, SFMBT1_TARGET_GENES

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of gene expression (GO:0010468)

GO Molecular Function (5): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
gene expression	1
regulation of macromolecule biosynthetic process	1
transcription cis-regulatory region binding	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1170 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF142	C16orf96	A6NNT2	610
ZNF142	RUFY4	Q6ZNE9	532
ZNF142	GLB1L	Q6UWU2	476
ZNF142	ZYG11A	Q6WRX3	472
ZNF142	TTLL7	Q6ZT98	461
ZNF142	SLC38A11	Q08AI6	460
ZNF142	STK36	Q9NRP7	457
ZNF142	TEX13B	Q9BXU2	456
ZNF142	OR51Q1	Q8NH59	447
ZNF142	MRPS16	Q9Y3D3	417
ZNF142	OBSL1	O75147	414
ZNF142	TMBIM1	Q969X1	414
ZNF142	LRRC3	Q9BY71	381
ZNF142	SPCS2	Q15005	375
ZNF142	ITIH6	Q6UXX5	373

IntAct

14 interactions, top by confidence:

A	B	Type	Score
CACNG5	ZNF316	psi-mi:“MI:0914”(association)	0.530
RPL30	RRP8	psi-mi:“MI:0914”(association)	0.530
ZNF142	CHMP5	psi-mi:“MI:0915”(physical association)	0.370
MAPT	LANCL1	psi-mi:“MI:0914”(association)	0.350
PURG	ZNF320	psi-mi:“MI:0914”(association)	0.350
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
ZNF460	ZNF320	psi-mi:“MI:0914”(association)	0.350
FBLN2	ZNF316	psi-mi:“MI:0914”(association)	0.350
RPL13		psi-mi:“MI:0914”(association)	0.350
FMR1	ZNF142	psi-mi:“MI:0915”(physical association)	0.000
ZNF142	MAPK14	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): ZNF142 (Affinity Capture-RNA), ZNF142 (Synthetic Growth Defect), ZNF142 (Synthetic Growth Defect), ZNF142 (Affinity Capture-MS), ZNF142 (Affinity Capture-MS), ZNF142 (Affinity Capture-MS), ZNF142 (Affinity Capture-MS), ZNF142 (Affinity Capture-RNA), ZNF142 (Affinity Capture-MS), ZNF142 (Affinity Capture-MS), ZNF142 (Affinity Capture-MS), ZNF142 (Proximity Label-MS), ZNF142 (Affinity Capture-MS), ZNF142 (Affinity Capture-MS), ZNF142 (Affinity Capture-MS)

ESM2 similar proteins: A0JNJ4, A4IHR5, A6H7J1, A7UKY7, D4AE48, E9Q9M8, O15209, O35615, O75081, O95785, P03966, P04198, P39881, P49796, P52746, Q01101, Q1LY51, Q29RS4, Q32KV8, Q4KLY2, Q505G8, Q5T6C5, Q5TJE2, Q61976, Q62511, Q63379, Q63ZV0, Q6AY75, Q6NUJ5, Q6NV74, Q6P0F9, Q7T3H2, Q8BG80, Q8CDC7, Q8CE64, Q8IX07, Q8N554, Q8R4U1, Q96C00, Q96JP5

Diamond homologs: A1L2U9, A2A884, A2ANX9, A7Y7X5, B0X9H6, B0YDH7, B1WAZ8, B1WBU4, E9PW05, E9PZZ1, G5EBU4, O15391, O60315, O62836, O75362, O77459, O95863, P08048, P0CS62, P0CS63, P10925, P15822, P17010, P17012, P20662, P22227, P25490, P28166, P31509, P31629, P36197, P52739, P52746, P56270, P56670, P56671, P60319, P80944, Q00899, Q00900

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	23
Likely pathogenic	16
Uncertain significance	305
Likely benign	74
Benign	21

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1705654	NM_001379659.1(ZNF142):c.4114C>T (p.Gln1372Ter)	Pathogenic
2231946	NM_001379659.1(ZNF142):c.3311C>G (p.Ser1104Ter)	Pathogenic
2231947	NM_001379659.1(ZNF142):c.3904del (p.Ala1302fs)	Pathogenic
2442549	NM_001379659.1(ZNF142):c.1762C>T (p.Gln588Ter)	Pathogenic
2571118	NM_001379659.1(ZNF142):c.4334T>A (p.Leu1445Ter)	Pathogenic
3342865	NM_001379659.1(ZNF142):c.4630C>T (p.Arg1544Ter)	Pathogenic
3896756	NM_001379659.1(ZNF142):c.1127del (p.Thr376fs)	Pathogenic
3896757	NM_001379659.1(ZNF142):c.4861C>T (p.Gln1621Ter)	Pathogenic
3896760	NM_001379659.1(ZNF142):c.5089-1G>A	Pathogenic
3896761	NM_001379659.1(ZNF142):c.1874-2A>G	Pathogenic
3896762	NM_001379659.1(ZNF142):c.4335del (p.Leu1445fs)	Pathogenic
3896764	NM_001379659.1(ZNF142):c.3767dup (p.Gly1257fs)	Pathogenic
3896767	NM_001379659.1(ZNF142):c.2506C>T (p.Arg836Ter)	Pathogenic
3896768	NM_001379659.1(ZNF142):c.3250del (p.His1084fs)	Pathogenic
3896769	NM_001379659.1(ZNF142):c.3451del (p.Glu1151fs)	Pathogenic
3896770	NM_001379659.1(ZNF142):c.3946del (p.Glu1316fs)	Pathogenic
4635119	NM_001379659.1(ZNF142):c.2531del (p.Pro844fs)	Pathogenic
4686170	NM_001379659.1(ZNF142):c.4990C>T (p.Arg1664Ter)	Pathogenic
4689535	NM_001379659.1(ZNF142):c.2029C>T (p.Arg677Ter)	Pathogenic
627542	NM_001379659.1(ZNF142):c.1892del (p.Cys631fs)	Pathogenic
627543	NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs)	Pathogenic
635279	NM_001379659.1(ZNF142):c.4602del (p.Leu1535fs)	Pathogenic
986967	NM_001379659.1(ZNF142):c.1852C>T (p.Arg618Ter)	Pathogenic
1342648	NM_001379659.1(ZNF142):c.3787dup (p.Gln1263fs)	Likely pathogenic
1698427	NM_001379659.1(ZNF142):c.982_983del (p.Lys328fs)	Likely pathogenic
1705330	NM_001379659.1(ZNF142):c.3755dup (p.Arg1253fs)	Likely pathogenic
1805427	NM_001379659.1(ZNF142):c.4522C>T (p.Arg1508Ter)	Likely pathogenic
2442744	NM_001379659.1(ZNF142):c.5467del (p.Cys1823fs)	Likely pathogenic
2499388	NM_001379659.1(ZNF142):c.1915C>T (p.Arg639Ter)	Likely pathogenic
2506451	NM_001379659.1(ZNF142):c.5194+1G>C	Likely pathogenic

SpliceAI

2459 predictions. Top by Δscore:

Variant	Effect	Δscore
2:218633755:G:GT	donor_gain	1.0000
2:218634194:G:GT	donor_gain	1.0000
2:218634195:A:T	donor_gain	1.0000
2:218634217:GATGG:G	donor_gain	1.0000
2:218634220:GG:G	donor_gain	1.0000
2:218634221:GG:G	donor_gain	1.0000
2:218634446:T:TA	acceptor_gain	1.0000
2:218634447:G:A	acceptor_gain	1.0000
2:218634453:CTCA:C	acceptor_loss	1.0000
2:218634454:TCA:T	acceptor_loss	1.0000
2:218634455:CAG:C	acceptor_loss	1.0000
2:218634456:A:AG	acceptor_gain	1.0000
2:218634456:A:AT	acceptor_loss	1.0000
2:218634456:AGT:A	acceptor_gain	1.0000
2:218634456:AGTG:A	acceptor_gain	1.0000
2:218634457:G:GT	acceptor_gain	1.0000
2:218634457:GT:G	acceptor_gain	1.0000
2:218634457:GTG:G	acceptor_gain	1.0000
2:218634457:GTGG:G	acceptor_gain	1.0000
2:218634457:GTGGC:G	acceptor_gain	1.0000
2:218634628:CAGGT:C	donor_loss	1.0000
2:218634631:GTAC:G	donor_loss	1.0000
2:218634632:T:G	donor_loss	1.0000
2:218635932:G:GA	donor_loss	1.0000
2:218635932:G:GG	donor_gain	1.0000
2:218635933:T:G	donor_loss	1.0000
2:218636228:T:TA	acceptor_gain	1.0000
2:218636233:A:AG	acceptor_gain	1.0000
2:218636234:C:G	acceptor_gain	1.0000
2:218636236:A:AG	acceptor_gain	1.0000

AlphaMissense

12374 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:218638486:G:C	H1639Q	1.000
2:218638486:G:T	H1639Q	1.000
2:218638501:G:C	F1634L	1.000
2:218638501:G:T	F1634L	1.000
2:218638503:A:G	F1634L	1.000
2:218638507:T:A	Q1632H	1.000
2:218638507:T:G	Q1632H	1.000
2:218638534:G:C	C1623W	1.000
2:218638536:A:G	C1623R	1.000
2:218638540:G:C	F1621L	1.000
2:218638540:G:T	F1621L	1.000
2:218638542:A:G	F1621L	1.000
2:218638558:G:C	H1615Q	1.000
2:218638558:G:T	H1615Q	1.000
2:218638572:G:C	H1611D	1.000
2:218638597:G:C	F1602L	1.000
2:218638597:G:T	F1602L	1.000
2:218638598:A:G	F1602S	1.000
2:218638599:A:G	F1602L	1.000
2:218638599:A:T	F1602I	1.000
2:218638609:G:C	C1598W	1.000
2:218638610:C:G	C1598S	1.000
2:218638610:C:T	C1598Y	1.000
2:218638611:A:G	C1598R	1.000
2:218638611:A:T	C1598S	1.000
2:218638618:G:C	C1595W	1.000
2:218638619:C:T	C1595Y	1.000
2:218638620:A:G	C1595R	1.000
2:218640668:A:C	H1530Q	1.000
2:218640668:A:T	H1530Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000183179 (2:218656064 C>T), RS1000200367 (2:218653662 C>A,T), RS1000352446 (2:218659981 G>A), RS1000371514 (2:218653410 T>C), RS1000424259 (2:218656334 A>G), RS1000522183 (2:218657555 A>C), RS1000653795 (2:218650872 G>A), RS1000761034 (2:218657827 C>G), RS1000996131 (2:218633849 A>G), RS1001015733 (2:218637479 T>G), RS1001099251 (2:218641478 T>A), RS1001147500 (2:218655428 G>T), RS1001262481 (2:218647584 C>G), RS1001269890 (2:218653007 G>A), RS1001332878 (2:218639249 G>T)

Disease associations

OMIM: gene MIM:604083 | disease phenotypes: MIM:618425

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with impaired speech and hyperkinetic movements	Strong	Autosomal recessive

Mondo (2): neurodevelopmental disorder with impaired speech and hyperkinetic movements (MONDO:0032741), intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

17 total (17 of 17 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000268	Dolichocephaly
HP:0000473	Torticollis
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001251	Ataxia
HP:0001263	Global developmental delay
HP:0001332	Dystonia
HP:0001337	Tremor
HP:0002069	Bilateral tonic-clonic seizure
HP:0002072	Chorea
HP:0002395	Lower limb hyperreflexia
HP:0002487	Hyperkinetic movements
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0008936	Axial hypotonia
HP:0025336	Delayed ability to sit

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001664_1	Amyotrophic lateral sclerosis	6.000000e-07
GCST006661_114	Male-pattern baldness	2.000000e-16
GCST010002_409	Refractive error	2.000000e-17
GCST010083_351	Hemoglobin levels	1.000000e-15
GCST90020028_764	Hip circumference adjusted for BMI	6.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0008039	BMI-adjusted hip circumference

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

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
Estradiol	increases expression	2
aristolochic acid I	increases expression	1
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
AM 251	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Cisplatin	decreases expression	1
Coal	increases abundance, increases expression	1
Doxorubicin	decreases expression	1
Smoke	increases abundance, increases expression	1
Thiram	increases expression	1
Valproic Acid	affects expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

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