ZBTB47
geneOn this page
Also known as KIAA1190DKFZp434N0615
Summary
ZBTB47 (zinc finger and BTB domain containing 47, HGNC:26955) is a protein-coding gene on chromosome 3p22.1, encoding Zinc finger and BTB domain-containing protein 47 (Q9UFB7). May be involved in transcriptional regulation.
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Source: NCBI Gene 92999 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 175 total — 1 pathogenic
- MANE Select transcript:
NM_145166
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26955 |
| Approved symbol | ZBTB47 |
| Name | zinc finger and BTB domain containing 47 |
| Location | 3p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1190, DKFZp434N0615 |
| Ensembl gene | ENSG00000114853 |
| Ensembl biotype | protein_coding |
| OMIM | 619969 |
| Entrez | 92999 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000232974, ENST00000505904, ENST00000680014, ENST00000889819, ENST00000889820, ENST00000889821, ENST00000889822, ENST00000889823
RefSeq mRNA: 2 — MANE Select: NM_145166
NM_001410746, NM_145166
CCDS: CCDS46805, CCDS93251
Canonical transcript exons
ENST00000232974 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000764558 | 42661485 | 42661632 |
| ENSE00001498484 | 42658275 | 42659828 |
| ENSE00001651725 | 42663012 | 42663127 |
| ENSE00001671510 | 42653697 | 42653883 |
| ENSE00001784559 | 42663797 | 42663941 |
| ENSE00003848492 | 42664237 | 42667580 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 97.29.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4357 / max 142.2280, expressed in 1656 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36274 | 11.7571 | 1650 |
| 36271 | 0.3411 | 207 |
| 36275 | 0.2594 | 127 |
| 36272 | 0.0780 | 30 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ventricle myocardium | UBERON:0006566 | 97.29 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 96.58 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.13 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.96 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.51 | gold quality |
| apex of heart | UBERON:0002098 | 95.43 | gold quality |
| muscle of leg | UBERON:0001383 | 95.18 | gold quality |
| myocardium | UBERON:0002349 | 94.69 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.44 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.32 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.30 | gold quality |
| pancreatic ductal cell | CL:0002079 | 94.22 | silver quality |
| cardiac ventricle | UBERON:0002082 | 94.09 | gold quality |
| amygdala | UBERON:0001876 | 94.08 | gold quality |
| right coronary artery | UBERON:0001625 | 93.91 | gold quality |
| putamen | UBERON:0001874 | 93.84 | gold quality |
| parotid gland | UBERON:0001831 | 93.79 | gold quality |
| cardiac atrium | UBERON:0002081 | 93.70 | gold quality |
| spinal cord | UBERON:0002240 | 93.70 | gold quality |
| right atrium auricular region | UBERON:0006631 | 93.65 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.12 | gold quality |
| ascending aorta | UBERON:0001496 | 93.10 | gold quality |
| aorta | UBERON:0000947 | 92.94 | gold quality |
| heart | UBERON:0000948 | 92.92 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 92.92 | gold quality |
| popliteal artery | UBERON:0002250 | 92.88 | gold quality |
| tibial artery | UBERON:0007610 | 92.87 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 92.77 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 92.53 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.21 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.28 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2543.1 | ZBTB47 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:39605320
miRNA regulators (miRDB)
102 targeting ZBTB47, 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
Literature-anchored findings (GeneRIF, showing 2)
- Data show that ZNF651 is a ZNF652 paralogue that shares a common DNA binding sequence with ZNF652 and represses target gene expression through the formation of a CBFA2T3-ZNF651 corepressor complex. (PMID:20116376)
- De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. (PMID:37743782)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zbtb47a | ENSDARG00000057751 |
| danio_rerio | zbtb47b | ENSDARG00000079547 |
| mus_musculus | Zbtb47 | ENSMUSG00000013419 |
| rattus_norvegicus | Zbtb47 | ENSRNOG00000019382 |
| drosophila_melanogaster | dwg | FBGN0000520 |
| drosophila_melanogaster | CG6654 | FBGN0038301 |
| caenorhabditis_elegans | WBGENE00003933 |
Paralogs (6): ZNF324 (ENSG00000083812), GTF3A (ENSG00000122034), ZUP1 (ENSG00000153975), ZNF513 (ENSG00000163795), ZNF652 (ENSG00000198740), ZNF324B (ENSG00000249471)
Protein
Protein identifiers
Zinc finger and BTB domain-containing protein 47 — Q9UFB7 (reviewed: Q9UFB7)
Alternative names: Zinc finger protein 651
All UniProt accessions (3): Q9UFB7, A0A7P0T820, D6RDG5
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UFB7-1 | 1 | yes |
| Q9UFB7-2 | 2 |
RefSeq proteins (2): NP_001397675, NP_660149* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR049524 | ZBTB47_BTB_POZ | Domain |
Pfam: PF00096, PF00651
UniProt features (24 total): zinc finger region 9, compositionally biased region 4, sequence conflict 4, region of interest 2, chain 1, domain 1, cross-link 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UFB7-F1 | 54.34 | 0.00 |
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 (1): 190
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 60 (showing top):
GCACCTT_MIR18A_MIR18B, TGGTGCT_MIR29A_MIR29B_MIR29C, chr3p22, TGACATY_UNKNOWN, HTF_01, HIF1_Q3, MYB_Q3, HOOI_ST7_TARGETS_DN, ACTTTAT_MIR1425P, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, AP4_01, CCAWNWWNNNGGC_UNKNOWN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, YTAAYNGCT_UNKNOWN, XBP1_01
GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (5): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), 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)
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 |
| 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 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
724 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZBTB47 | CBFA2T3 | O75081 | 662 |
| ZBTB47 | C11orf71 | Q6IPW1 | 533 |
| ZBTB47 | RWDD2A | Q9UIY3 | 476 |
| ZBTB47 | KIAA1755 | Q5JYT7 | 436 |
| ZBTB47 | ZC3H6 | P61129 | 421 |
| ZBTB47 | RNF103 | O00237 | 403 |
| ZBTB47 | XKR5 | Q6UX68 | 396 |
| ZBTB47 | SS18L2 | Q9UHA2 | 379 |
| ZBTB47 | PIK3CA | P42336 | 371 |
| ZBTB47 | TIGD1 | Q96MW7 | 365 |
| ZBTB47 | PRDM11 | Q9NQV5 | 359 |
| ZBTB47 | NEDD9 | Q14511 | 353 |
| ZBTB47 | RBM4B | Q9BQ04 | 348 |
| ZBTB47 | SEC22C | Q9BRL7 | 348 |
| ZBTB47 | USP54 | Q70EL1 | 342 |
IntAct
47 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DENND10 | CCDC93 | psi-mi:“MI:0914”(association) | 0.770 |
| TLE5 | ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF394 | ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| MTUS2 | ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB47 | HOOK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB47 | ZRANB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CEP70 | ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB47 | PNMA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DVL3 | ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NCKIPSD | ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF16 | ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOOK2 | ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CBFA2T3 | ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CUL4B | GGTLC3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB47 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB47 | TLE5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZBTB47 | ZNF394 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| ZBTB47 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZBTB47 | HOOK1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZBTB47 | ZRANB1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (148): ZBTB47 (Two-hybrid), ZBTB47 (Affinity Capture-MS), ZBTB47 (Affinity Capture-MS), ZBTB47 (Affinity Capture-MS), ZBTB47 (Two-hybrid), ZBTB47 (Two-hybrid), ZBTB47 (Two-hybrid), ZBTB47 (Two-hybrid), CCDC136 (Two-hybrid), CBFA2T3 (Two-hybrid), MTUS2 (Two-hybrid), HOOK1 (Two-hybrid), ZNF394 (Two-hybrid), DVL3 (Two-hybrid), ZNF16 (Two-hybrid)
ESM2 similar proteins: A1L1J6, A2A5K6, A2APF3, D3ZUU2, E9Q8T2, G3V893, G5E8B9, O43167, O70237, O95625, P10074, P22227, P52739, P57071, P98169, Q05516, Q13105, Q1H9T6, Q3B725, Q3B7N9, Q3U288, Q3UH06, Q4VBD9, Q5DU09, Q5EAC5, Q5R633, Q5VTD9, Q60821, Q6DDV0, Q6GL52, Q6NS86, Q6YND2, Q6ZSB9, Q7TS63, Q80X44, Q8BKX7, Q8BXX2, Q8C8V1, Q8CCE9, Q8N1W2
Diamond homologs: A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D3Z8N4, E0CZ16, G3X9X1, O15062, O88939, O93567, O95365, P28575, P41182, P41183, Q08CL3, Q08DK3, Q13105, Q16RL8, Q2M0J9, Q3UQV5, Q52KB5, Q5EXX3, Q5R7B8, Q5RDY3, Q5TC79, Q5ZI33, Q5ZKD9, Q5ZM39, Q60821
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZBTB47 | “form complex” | CBFA2T3/ZNF651 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
175 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 145 |
| Likely benign | 15 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1723211 | NM_145166.4(ZBTB47):c.1429G>A (p.Glu477Lys) | Pathogenic |
SpliceAI
1352 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:42658271:GCA:G | acceptor_loss | 1.0000 |
| 3:42658272:CA:C | acceptor_loss | 1.0000 |
| 3:42658273:A:AG | acceptor_gain | 1.0000 |
| 3:42658273:AGTT:A | acceptor_gain | 1.0000 |
| 3:42658274:G:GT | acceptor_gain | 1.0000 |
| 3:42658274:GT:G | acceptor_gain | 1.0000 |
| 3:42658274:GTT:G | acceptor_gain | 1.0000 |
| 3:42658274:GTTG:G | acceptor_gain | 1.0000 |
| 3:42658274:GTTGC:G | acceptor_gain | 1.0000 |
| 3:42661483:A:AG | acceptor_gain | 1.0000 |
| 3:42661483:AGTGT:A | acceptor_gain | 1.0000 |
| 3:42661484:G:GG | acceptor_gain | 1.0000 |
| 3:42661484:GT:G | acceptor_gain | 1.0000 |
| 3:42661484:GTGT:G | acceptor_gain | 1.0000 |
| 3:42661484:GTGTG:G | acceptor_gain | 1.0000 |
| 3:42661614:GTGC:G | donor_gain | 1.0000 |
| 3:42661629:GTTG:G | donor_gain | 1.0000 |
| 3:42663939:CAGG:C | donor_loss | 1.0000 |
| 3:42663940:AGGT:A | donor_loss | 1.0000 |
| 3:42663942:GT:G | donor_loss | 1.0000 |
| 3:42664228:A:AG | acceptor_gain | 1.0000 |
| 3:42664229:A:G | acceptor_gain | 1.0000 |
| 3:42664230:C:G | acceptor_gain | 1.0000 |
| 3:42664235:A:AG | acceptor_gain | 1.0000 |
| 3:42664235:AG:A | acceptor_gain | 1.0000 |
| 3:42664236:G:GA | acceptor_gain | 1.0000 |
| 3:42664236:GG:G | acceptor_gain | 1.0000 |
| 3:42664236:GGA:G | acceptor_gain | 1.0000 |
| 3:42664236:GGAGA:G | acceptor_gain | 1.0000 |
| 3:42658264:T:A | acceptor_gain | 0.9900 |
AlphaMissense
4922 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:42659667:T:C | C438R | 1.000 |
| 3:42659676:T:A | C441S | 1.000 |
| 3:42659676:T:C | C441R | 1.000 |
| 3:42659677:G:C | C441S | 1.000 |
| 3:42659688:T:C | F445L | 1.000 |
| 3:42659689:T:C | F445S | 1.000 |
| 3:42659690:C:A | F445L | 1.000 |
| 3:42659690:C:G | F445L | 1.000 |
| 3:42659748:T:C | C465R | 1.000 |
| 3:42659769:T:C | F472L | 1.000 |
| 3:42659770:T:C | F472S | 1.000 |
| 3:42659771:C:A | F472L | 1.000 |
| 3:42659771:C:G | F472L | 1.000 |
| 3:42661485:T:C | C492R | 1.000 |
| 3:42661575:T:C | C522R | 1.000 |
| 3:42661576:G:A | C522Y | 1.000 |
| 3:42661584:T:C | C525R | 1.000 |
| 3:42661585:G:A | C525Y | 1.000 |
| 3:42661586:T:G | C525W | 1.000 |
| 3:42661596:T:C | F529L | 1.000 |
| 3:42661598:C:A | F529L | 1.000 |
| 3:42661598:C:G | F529L | 1.000 |
| 3:42661625:C:A | H538Q | 1.000 |
| 3:42661625:C:G | H538Q | 1.000 |
| 3:42663016:C:A | H542Q | 1.000 |
| 3:42663016:C:G | H542Q | 1.000 |
| 3:42663032:T:C | F548L | 1.000 |
| 3:42663034:C:A | F548L | 1.000 |
| 3:42663034:C:G | F548L | 1.000 |
| 3:42663038:T:C | C550R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000150159 (3:42660475 G>GC), RS1000401886 (3:42655825 T>C), RS1000472013 (3:42663391 A>G), RS1000690527 (3:42653729 G>T), RS1000822056 (3:42660199 G>A,C), RS1000822976 (3:42663974 CG>C), RS1001145449 (3:42653949 G>A), RS1001308368 (3:42659919 G>C), RS1001488410 (3:42665685 G>A,C,T), RS1001554598 (3:42666688 G>A,T), RS1001792023 (3:42665492 T>C), RS1001893601 (3:42654266 A>C,G), RS1002257190 (3:42659025 G>A), RS1002412908 (3:42652533 G>A,C), RS1002492854 (3:42652951 C>A)
Disease associations
OMIM: gene MIM:619969 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Strong | Autosomal dominant |
| complex neurodevelopmental disorder | Limited | Autosomal dominant |
Mondo (2): complex neurodevelopmental disorder (MONDO:0100038), neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, affects expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| zinc chromate | increases abundance, decreases expression | 1 |
| chromium hexavalent ion | increases abundance, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, affects expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, affects expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cisplatin | increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
204 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder, neurodevelopmental disorder