ZNF41
geneOn this page
Also known as MGC8941MRX89
Summary
ZNF41 (zinc finger protein 41, HGNC:13107) is a protein-coding gene on chromosome Xp11.3, encoding Zinc finger protein 41 (P51814). May be involved in transcriptional regulation.
This gene encodes a protein that contains KRAB-A and KRAB-B domains multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. An initial study suggested that this gene may be associated with X-linked cognitive disability, but a later study has called this finding into question (PMID:23871722).
Source: NCBI Gene 7592 — RefSeq curated summary.
At a glance
- Gene–disease (curated): non-syndromic X-linked intellectual disability (Limited, GenCC)
- Clinical variants (ClinVar): 137 total
- Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_001324144
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13107 |
| Approved symbol | ZNF41 |
| Name | zinc finger protein 41 |
| Location | Xp11.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC8941, MRX89 |
| Ensembl gene | ENSG00000147124 |
| Ensembl biotype | protein_coding |
| OMIM | 314995 |
| Entrez | 7592 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 28 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000313116, ENST00000377065, ENST00000432977, ENST00000465311, ENST00000684689, ENST00000894174, ENST00000894175, ENST00000894176, ENST00000894177, ENST00000894178, ENST00000894179, ENST00000894180, ENST00000894181, ENST00000894182, ENST00000894183, ENST00000915705, ENST00000915706, ENST00000915707, ENST00000915708, ENST00000968632, ENST00000968633, ENST00000968634, ENST00000968635, ENST00000968636, ENST00000968637, ENST00000968638, ENST00000968639, ENST00000968640, ENST00000968641
RefSeq mRNA: 20 — MANE Select: NM_001324144
NM_001324139, NM_001324140, NM_001324141, NM_001324142, NM_001324143, NM_001324144, NM_001324145, NM_001324147, NM_001324148, NM_001324149, NM_001324150, NM_001324151, NM_001324152, NM_001324153, NM_001324154, NM_001324155, NM_001324156, NM_001324157, NM_007130, NM_153380
CCDS: CCDS14279
Canonical transcript exons
ENST00000684689 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003479680 | 47456272 | 47456398 |
| ENSE00003626057 | 47467410 | 47467760 |
| ENSE00003627117 | 47455921 | 47456016 |
| ENSE00003917920 | 47445178 | 47449474 |
| ENSE00003922279 | 47483095 | 47483222 |
Expression profiles
Bgee: expression breadth ubiquitous, 179 present calls, max score 82.56.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.3103 / max 172.2434, expressed in 1687 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199088 | 4.8670 | 1601 |
| 199087 | 1.4433 | 786 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| muscle of leg | UBERON:0001383 | 82.56 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.30 | gold quality |
| gastrocnemius | UBERON:0001388 | 82.21 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 81.91 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.10 | gold quality |
| apex of heart | UBERON:0002098 | 79.62 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 79.38 | gold quality |
| cortical plate | UBERON:0005343 | 79.35 | gold quality |
| rectum | UBERON:0001052 | 78.57 | gold quality |
| ganglionic eminence | UBERON:0004023 | 78.39 | gold quality |
| embryo | UBERON:0000922 | 78.38 | gold quality |
| ventricular zone | UBERON:0003053 | 78.37 | gold quality |
| leukocyte | CL:0000738 | 78.35 | gold quality |
| monocyte | CL:0000576 | 78.33 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.25 | silver quality |
| heart left ventricle | UBERON:0002084 | 78.01 | gold quality |
| right atrium auricular region | UBERON:0006631 | 77.50 | gold quality |
| vermiform appendix | UBERON:0001154 | 77.18 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 77.17 | gold quality |
| cardiac ventricle | UBERON:0002082 | 77.12 | gold quality |
| colonic epithelium | UBERON:0000397 | 77.00 | gold quality |
| calcaneal tendon | UBERON:0003701 | 76.92 | gold quality |
| cardiac atrium | UBERON:0002081 | 76.56 | gold quality |
| stromal cell of endometrium | CL:0002255 | 76.16 | gold quality |
| bone marrow cell | CL:0002092 | 75.99 | gold quality |
| heart | UBERON:0000948 | 75.86 | gold quality |
| pancreas | UBERON:0001264 | 74.98 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 74.32 | gold quality |
| granulocyte | CL:0000094 | 74.30 | gold quality |
| cerebellar cortex | UBERON:0002129 | 74.22 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.62 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
87 targeting ZNF41, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
Functional genomics
ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 1)
- ZNF41 is critical for cognitive development (PMID:14628291)
Cross-species orthologs
0 orthologs
Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631), ZNF3 (ENSG00000166526)
Protein
Protein identifiers
Zinc finger protein 41 — P51814 (reviewed: P51814)
All UniProt accessions (2): P51814, B1AQ29
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Tissue specificity. Expressed in the heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Disease relevance. A chromosomal aberration involving ZNF41 has been found in a patient with severe intellectual disability. Translocation t(X;7)(p11.3;q11.21).
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (8)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P51814-1 | 1 | yes |
| P51814-2 | 2 | |
| P51814-3 | 3 | |
| P51814-4 | 4 | |
| P51814-5 | 5 | |
| P51814-6 | 6 | |
| P51814-7 | 7 | |
| P51814-8 | 8 |
RefSeq proteins (20): NP_001311068, NP_001311069, NP_001311070, NP_001311071, NP_001311072, NP_001311073, NP_001311074, NP_001311076, NP_001311077, NP_001311078, NP_001311079, NP_001311080, NP_001311081, NP_001311082, NP_001311083, NP_001311084, NP_001311085, NP_001311086, NP_009061, NP_700359 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096, PF01352
UniProt features (34 total): zinc finger region 18, splice variant 6, sequence variant 3, cross-link 2, chain 1, domain 1, region of interest 1, compositionally biased region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P51814-F1 | 64.52 | 0.13 |
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 (2): 120, 647
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 48 (showing top):
YY1_Q6, KMCATNNWGGA_UNKNOWN, NKX25_01, YY1_01, GCCATNTTG_YY1_Q6, chrXp11, CIITA_TARGET_GENES, CSHL1_TARGET_GENES, E2F5_TARGET_GENES, FEV_TARGET_GENES, HMG20B_TARGET_GENES, SOX3_TARGET_GENES, UBN1_TARGET_GENES, MIR95_5P, MIR627_3P
GO Biological Process (1): regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (4): DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
910 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF41 | FTSJ1 | Q9UET6 | 843 |
| ZNF41 | ZNF385B | Q569K4 | 836 |
| ZNF41 | ARAF | P07557 | 828 |
| ZNF41 | PQBP1 | O60828 | 684 |
| ZNF41 | TIMP1 | P01033 | 626 |
| ZNF41 | CTSV | O60911 | 553 |
| ZNF41 | PHF8 | Q9UPP1 | 544 |
| ZNF41 | TRIM28 | Q13263 | 515 |
| ZNF41 | CHST7 | Q9NS84 | 461 |
| ZNF41 | CD99 | P14209 | 427 |
| ZNF41 | POGZ | Q7Z3K3 | 405 |
| ZNF41 | ARHGEF6 | Q15052 | 400 |
| ZNF41 | NXF5 | Q9H1B4 | 400 |
| ZNF41 | HSFX1 | Q9UBD0 | 399 |
| ZNF41 | OPHN1 | O60890 | 390 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRTAP10-7 | ZNF41 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM9B | ZNF41 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF41 | FAM9B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF41 | TLX3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF41 | SMAD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| ZNF41 | NR4A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (11): FAM9B (Two-hybrid), KRTAP10-7 (Two-hybrid), FAM9B (Two-hybrid), ZNF41 (Two-hybrid), C11orf57 (Two-hybrid), FAM9B (Two-hybrid), RNPS1 (Two-hybrid), ZNF41 (Affinity Capture-RNA), ZNF41 (Affinity Capture-MS), TLX3 (Two-hybrid), ZNF41 (Two-hybrid)
ESM2 similar proteins: A0A087WUV0, A0JNB1, A2VDP4, B2RUI1, P0CG31, P10072, P17025, P17036, P17097, P18733, P51814, Q08ER8, Q09FC8, Q0VGE8, Q14590, Q15937, Q16600, Q2M3X9, Q4V8A8, Q5CZA5, Q5R8G9, Q5RBX0, Q5VIY5, Q68DI1, Q6J6I6, Q6NX49, Q6P1L6, Q6PG37, Q6ZMS4, Q6ZMW2, Q80YP6, Q86UD4, Q86Y25, Q8IZ26, Q8N184, Q8NB42, Q8NEK5, Q8TAF7, Q8TF47, Q8WXB4
Diamond homologs: A0JPL0, A2VDP4, A6QLU5, A6QPT6, A8MQ14, A8MUZ8, A8MWA4, B1APH4, B2RXC5, E9PYI1, E9Q8G5, O75290, O94892, P08042, P0CH99, P0CI00, P17014, P17025, P17030, P17031, P17032, P17098, P21506, P51508, P51523, P51786, P51814, P52736, P52738, Q02525, Q03923, Q03936, Q06730, Q06732, Q0VCB0, Q13401, Q14587, Q16587, Q2M218, Q2M3X9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
137 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 15 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
715 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:47456266:GCTTA:G | donor_loss | 1.0000 |
| X:47456267:CTTAC:C | donor_loss | 1.0000 |
| X:47456270:A:AC | donor_gain | 1.0000 |
| X:47456270:AC:A | donor_gain | 1.0000 |
| X:47456271:C:CC | donor_gain | 1.0000 |
| X:47456271:CC:C | donor_gain | 1.0000 |
| X:47456271:CCCA:C | donor_gain | 1.0000 |
| X:47456274:A:AC | donor_gain | 1.0000 |
| X:47456275:C:CC | donor_gain | 1.0000 |
| X:47449470:CTCAC:C | acceptor_gain | 0.9900 |
| X:47449472:CAC:C | acceptor_gain | 0.9900 |
| X:47449474:CCTAA:C | acceptor_loss | 0.9900 |
| X:47449475:C:CA | acceptor_loss | 0.9900 |
| X:47456015:CC:C | acceptor_gain | 0.9900 |
| X:47456016:CC:C | acceptor_gain | 0.9900 |
| X:47456270:ACC:A | donor_gain | 0.9900 |
| X:47456271:CCC:C | donor_gain | 0.9900 |
| X:47456399:C:CC | acceptor_gain | 0.9900 |
| X:47482457:A:AC | donor_gain | 0.9900 |
| X:47482457:ACTC:A | donor_gain | 0.9900 |
| X:47482458:C:CC | donor_gain | 0.9900 |
| X:47482458:CTCC:C | donor_gain | 0.9900 |
| X:47482460:C:CA | donor_gain | 0.9900 |
| X:47482471:AAGT:A | donor_gain | 0.9900 |
| X:47449475:C:CC | acceptor_gain | 0.9800 |
| X:47454492:AGT:A | donor_gain | 0.9800 |
| X:47456310:T:TA | donor_gain | 0.9800 |
| X:47482457:ACT:A | donor_gain | 0.9800 |
| X:47482458:CT:C | donor_gain | 0.9800 |
| X:47482458:CTC:C | donor_gain | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000151085 (X:47478823 C>T), RS1000180152 (X:47449600 T>C), RS1000328433 (X:47469183 C>G,T), RS1000531967 (X:47453717 T>C,G), RS1000702671 (X:47462689 T>C), RS1000762925 (X:47462162 C>T), RS1000789386 (X:47471464 AAAAAG>A), RS1000932343 (X:47471374 G>A,T), RS1000966171 (X:47453973 G>A), RS1000990142 (X:47484794 C>G), RS1001386237 (X:47471769 G>T), RS1001410066 (X:47446905 A>G), RS1001571917 (X:47455986 A>G), RS1001646679 (X:47460406 G>T), RS1001703102 (X:47464835 T>C)
Disease associations
OMIM: gene MIM:314995 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| non-syndromic X-linked intellectual disability | Limited | X-linked |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| non-syndromic X-linked intellectual disability | Disputed | XL |
Mondo (2): intellectual disability (MONDO:0001071), non-syndromic X-linked intellectual disability (MONDO:0019181)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| C564490 | Mental Retardation, X-Linked Nonsyndromic (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Allergens | affects cotreatment, increases abundance, increases expression | 1 |
| Arbutin | decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Vehicle Emissions | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Gallic Acid | decreases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Urethane | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | affects cotreatment, increases abundance, increases expression | 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 |
Related Atlas pages
- Associated diseases: non-syndromic X-linked intellectual disability
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): non-syndromic X-linked intellectual disability