ELMOD1
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Also known as DKFZp547C176
Summary
ELMOD1 (ELMO domain containing 1, HGNC:25334) is a protein-coding gene on chromosome 11q22.3, encoding ELMO domain-containing protein 1 (Q8N336). Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family.
Enables GTPase activator activity. Predicted to act upstream of or within cilium assembly and protein transport. Predicted to be active in Golgi apparatus; cilium; and glutamatergic synapse.
Source: NCBI Gene 55531 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 3
- Clinical variants (ClinVar): 56 total
- MANE Select transcript:
NM_018712
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25334 |
| Approved symbol | ELMOD1 |
| Name | ELMO domain containing 1 |
| Location | 11q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp547C176 |
| Ensembl gene | ENSG00000110675 |
| Ensembl biotype | protein_coding |
| OMIM | 615456 |
| Entrez | 55531 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000265840, ENST00000443271, ENST00000524378, ENST00000527036, ENST00000529675, ENST00000531234, ENST00000534236, ENST00000959906, ENST00000959907
RefSeq mRNA: 3 — MANE Select: NM_018712
NM_001130037, NM_001308018, NM_018712
CCDS: CCDS44723, CCDS44724, CCDS76472
Canonical transcript exons
ENST00000265840 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000746412 | 107650335 | 107650403 |
| ENSE00000795444 | 107654172 | 107654222 |
| ENSE00001005031 | 107650885 | 107650908 |
| ENSE00001101496 | 107655933 | 107656066 |
| ENSE00001132697 | 107647468 | 107647601 |
| ENSE00001185310 | 107635636 | 107635765 |
| ENSE00001185313 | 107631580 | 107631677 |
| ENSE00001185317 | 107630700 | 107630728 |
| ENSE00001630985 | 107665025 | 107666779 |
| ENSE00002181706 | 107591147 | 107591409 |
| ENSE00003523396 | 107630417 | 107630562 |
| ENSE00003530847 | 107618105 | 107618206 |
Expression profiles
Bgee: expression breadth ubiquitous, 192 present calls, max score 98.79.
FANTOM5 (CAGE): breadth broad, TPM avg 7.1725 / max 309.4794, expressed in 458 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 116504 | 2.7963 | 306 |
| 116500 | 2.6177 | 230 |
| 116506 | 0.9254 | 123 |
| 116507 | 0.3846 | 92 |
| 116505 | 0.1323 | 73 |
| 116502 | 0.1084 | 60 |
| 116501 | 0.1066 | 62 |
| 116503 | 0.1012 | 60 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lateral nuclear group of thalamus | UBERON:0002736 | 98.79 | gold quality |
| upper arm skin | UBERON:0004263 | 98.19 | gold quality |
| cortical plate | UBERON:0005343 | 97.84 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 97.54 | gold quality |
| cerebellar vermis | UBERON:0004720 | 97.49 | gold quality |
| endothelial cell | CL:0000115 | 96.91 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.69 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 96.61 | gold quality |
| pons | UBERON:0000988 | 96.22 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.18 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 95.89 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.79 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.38 | gold quality |
| parietal lobe | UBERON:0001872 | 95.15 | gold quality |
| postcentral gyrus | UBERON:0002581 | 94.89 | gold quality |
| occipital lobe | UBERON:0002021 | 94.78 | gold quality |
| primary visual cortex | UBERON:0002436 | 94.57 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.23 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.97 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.80 | gold quality |
| medulla oblongata | UBERON:0001896 | 93.43 | gold quality |
| frontal cortex | UBERON:0001870 | 93.15 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.15 | gold quality |
| frontal lobe | UBERON:0016525 | 93.15 | gold quality |
| upper leg skin | UBERON:0004262 | 92.84 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.68 | gold quality |
| entorhinal cortex | UBERON:0002728 | 92.52 | gold quality |
| neocortex | UBERON:0001950 | 92.30 | gold quality |
| cerebral cortex | UBERON:0000956 | 92.23 | gold quality |
| ventral tegmental area | UBERON:0002691 | 91.64 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75367 | yes | 40.32 |
| E-ANND-3 | yes | 5.01 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
136 targeting ELMOD1, 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-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
Literature-anchored findings (GeneRIF, showing 3)
- The non-opioid sigma-1 receptor (S1R) was identified as a novel effector of GAP activity of ELMOD1-3 proteins as its direct binding to either ELMOD1 or ELMOD2 resulted in loss of GAP activity. (PMID:24616099)
- Data suggest that GPR124 promotes cell adhesion via interaction with Elmo1-Dock180 and intersectin 1/2; this constitutes a previously unrecognized heteromeric complex that is putatively involved in GPR124-dependent adhesive/angiogenic responses in vascular endothelial cells. (GPR124 = G-protein coupled receptor 124; Elmo1 = ELMO domain-containing protein 1; Dock180 = dedicator of cytokinesis protein 1 180 kDa) (PMID:28600358)
- ELMOD1 mutation segregates with intellectual disability and autism spectrum disorder in Iranian family. (PMID:31327155)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | elmod1 | ENSDARG00000062056 |
| mus_musculus | Elmod1 | ENSMUSG00000041986 |
| rattus_norvegicus | Elmod1 | ENSRNOG00000009054 |
Paralogs (5): ELMO2 (ENSG00000062598), ELMO3 (ENSG00000102890), ELMOD3 (ENSG00000115459), ELMO1 (ENSG00000155849), ELMOD2 (ENSG00000179387)
Protein
Protein identifiers
ELMO domain-containing protein 1 — Q8N336 (reviewed: Q8N336)
All UniProt accessions (2): Q8N336, E9PLM8
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N336-1 | 1 | yes |
| Q8N336-2 | 2 | |
| Q8N336-3 | 3 |
RefSeq proteins (3): NP_001123509, NP_001294947, NP_061182* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006816 | ELMO_dom | Domain |
| IPR050868 | ELMO_domain-containing | Family |
Pfam: PF04727
UniProt features (4 total): splice variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N336-F1 | 90.80 | 0.72 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 122 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, BENPORATH_ES_WITH_H3K27ME3, PEREZ_TP63_TARGETS, chr11q22, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, EFC_Q6, GOBP_CILIUM_ORGANIZATION, E4F1_Q6, GOBP_ORGANELLE_ASSEMBLY, PEREZ_TP53_AND_TP63_TARGETS, GOBP_CELL_PROJECTION_ORGANIZATION, YNGTTNNNATT_UNKNOWN, LEE_TARGETS_OF_PTCH1_AND_SUFU_DN, TGGAAA_NFAT_Q4_01
GO Biological Process (3): protein transport (GO:0015031), cilium assembly (GO:0060271), intracellular protein localization (GO:0008104)
GO Molecular Function (1): GTPase activator activity (GO:0005096)
GO Cellular Component (4): Golgi apparatus (GO:0005794), cilium (GO:0005929), glutamatergic synapse (GO:0098978), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| macromolecule localization | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| synapse | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1042 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ELMOD1 | ELMOD3 | Q96FG2 | 791 |
| ELMOD1 | ARL2 | P36404 | 569 |
| ELMOD1 | POGLUT3 | Q7Z4H8 | 554 |
| ELMOD1 | SLC35F2 | Q8IXU6 | 540 |
| ELMOD1 | RASA1 | P20936 | 516 |
| ELMOD1 | DOCK1 | Q14185 | 513 |
| ELMOD1 | ARL3 | P36405 | 501 |
| ELMOD1 | ELMO2 | Q96JJ3 | 490 |
| ELMOD1 | ELMO3 | Q96BJ8 | 486 |
| ELMOD1 | ELMO1 | Q92556 | 433 |
| ELMOD1 | ARF6 | P26438 | 400 |
| ELMOD1 | TBC1D24 | Q9ULP9 | 364 |
| ELMOD1 | PIP5K1B | P78518 | 362 |
| ELMOD1 | CYTH2 | Q99418 | 359 |
| ELMOD1 | MYSM1 | Q5VVJ2 | 351 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ELMOD1 | LDHC | psi-mi:“MI:0914”(association) | 0.530 |
| ELMOD1 | S100A10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ELMOD1 | RHOA | psi-mi:“MI:0915”(physical association) | 0.400 |
| ELMOD1 | THG1L | psi-mi:“MI:0915”(physical association) | 0.370 |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| TMED7 | ATP9A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (18): SELENBP1 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), PKP3 (Affinity Capture-MS), LGALS3 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), ELMOD1 (Two-hybrid), LRRC15 (Affinity Capture-MS), LDHC (Affinity Capture-MS), PKP3 (Affinity Capture-MS), ELMOD1 (Affinity Capture-MS), ELMOD1 (Proximity Label-MS), DSG4 (Affinity Capture-MS), PBLD (Affinity Capture-MS), ELMOD1 (Affinity Capture-MS), LDHC (Affinity Capture-MS)
ESM2 similar proteins: A1A5Q4, A1L3F5, B0I564, B1AY13, O15327, O75934, Q0IIE6, Q28DG8, Q29RL1, Q2IA00, Q4R4D7, Q4R6T7, Q4R708, Q5NVD7, Q5RA60, Q5RAX7, Q5RBT3, Q5U1Z0, Q5VZE5, Q5ZHV2, Q62717, Q6DDI6, Q6DFL5, Q6DKG0, Q6GLR7, Q6PBE2, Q6PE87, Q6PHQ8, Q7SYB2, Q7T322, Q7ZXA8, Q86UW7, Q86VS3, Q8BMG7, Q8BYR5, Q8C9J3, Q8CDG3, Q8CF97, Q8CJF7, Q8IYR0
Diamond homologs: Q08DZ3, Q09292, Q0IIE6, Q3V1U8, Q54RS7, Q54UP9, Q54VR8, Q54YW1, Q5NVD7, Q5XIQ2, Q8BGF6, Q8IZ81, Q8N336, Q91YP6, Q58DT5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2656 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:107591437:G:GT | donor_gain | 1.0000 |
| 11:107617914:GC:G | donor_gain | 1.0000 |
| 11:107618103:A:AG | acceptor_gain | 1.0000 |
| 11:107618103:AGTT:A | acceptor_gain | 1.0000 |
| 11:107618104:G:GG | acceptor_gain | 1.0000 |
| 11:107618104:GTT:G | acceptor_gain | 1.0000 |
| 11:107618104:GTTG:G | acceptor_gain | 1.0000 |
| 11:107631678:G:GG | donor_gain | 1.0000 |
| 11:107647463:TACA:T | acceptor_loss | 1.0000 |
| 11:107647464:ACAG:A | acceptor_loss | 1.0000 |
| 11:107647465:C:G | acceptor_gain | 1.0000 |
| 11:107647466:A:AG | acceptor_gain | 1.0000 |
| 11:107647466:AG:A | acceptor_loss | 1.0000 |
| 11:107647467:G:GA | acceptor_gain | 1.0000 |
| 11:107647467:GT:G | acceptor_gain | 1.0000 |
| 11:107647467:GTT:G | acceptor_gain | 1.0000 |
| 11:107647467:GTTA:G | acceptor_gain | 1.0000 |
| 11:107647467:GTTAT:G | acceptor_gain | 1.0000 |
| 11:107647597:TTGCA:T | donor_gain | 1.0000 |
| 11:107647598:TGCA:T | donor_gain | 1.0000 |
| 11:107647599:GCA:G | donor_gain | 1.0000 |
| 11:107647599:GCAG:G | donor_gain | 1.0000 |
| 11:107647600:CA:C | donor_gain | 1.0000 |
| 11:107647601:AG:A | donor_loss | 1.0000 |
| 11:107647602:G:GG | donor_gain | 1.0000 |
| 11:107647603:TA:T | donor_loss | 1.0000 |
| 11:107647604:AAG:A | donor_loss | 1.0000 |
| 11:107647605:AGT:A | donor_loss | 1.0000 |
| 11:107656067:G:GG | donor_gain | 1.0000 |
| 11:107664478:G:GT | donor_gain | 1.0000 |
AlphaMissense
2235 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:107647522:T:A | W159R | 1.000 |
| 11:107647522:T:C | W159R | 1.000 |
| 11:107647524:G:C | W159C | 1.000 |
| 11:107647524:G:T | W159C | 1.000 |
| 11:107647534:G:C | G163R | 1.000 |
| 11:107647535:G:A | G163D | 1.000 |
| 11:107647535:G:T | G163V | 1.000 |
| 11:107647537:T:C | F164L | 1.000 |
| 11:107647538:T:C | F164S | 1.000 |
| 11:107647539:C:A | F164L | 1.000 |
| 11:107647539:C:G | F164L | 1.000 |
| 11:107647542:A:C | Q165H | 1.000 |
| 11:107647542:A:T | Q165H | 1.000 |
| 11:107647552:C:T | P169S | 1.000 |
| 11:107647553:C:A | P169H | 1.000 |
| 11:107647561:G:C | D172H | 1.000 |
| 11:107647562:A:C | D172A | 1.000 |
| 11:107647562:A:G | D172G | 1.000 |
| 11:107647562:A:T | D172V | 1.000 |
| 11:107647563:C:A | D172E | 1.000 |
| 11:107647563:C:G | D172E | 1.000 |
| 11:107647565:T:C | F173S | 1.000 |
| 11:107647576:G:A | G177R | 1.000 |
| 11:107647576:G:C | G177R | 1.000 |
| 11:107647577:G:A | G177E | 1.000 |
| 11:107647577:G:T | G177V | 1.000 |
| 11:107655952:G:C | G240R | 1.000 |
| 11:107665054:T:A | W288R | 1.000 |
| 11:107665054:T:C | W288R | 1.000 |
| 11:107665087:T:C | F299L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000002802 (11:107593838 T>C), RS1000108784 (11:107664276 T>C), RS1000151880 (11:107590364 C>G), RS1000156169 (11:107633856 C>G), RS1000209404 (11:107633638 G>A), RS1000211890 (11:107626952 T>G), RS1000217371 (11:107643252 A>C), RS1000259552 (11:107641623 C>T), RS1000263157 (11:107615297 G>A,T), RS1000291101 (11:107664599 T>C), RS1000370518 (11:107640319 A>G), RS1000394911 (11:107610200 C>A,T), RS1000404271 (11:107597996 C>A,T), RS1000445885 (11:107603290 A>G), RS1000482324 (11:107646304 G>A,T)
Disease associations
OMIM: gene MIM:615456 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Limited | Autosomal recessive |
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006168_1 | Pulse pressure x alcohol consumption interaction (2df test) | 3.000000e-08 |
| GCST007676_13 | 3-month functional outcome in ischaemic stroke (modified Rankin score) | 4.000000e-06 |
| GCST012485_9 | Cerebral amyloid angiopathy x sex interaction in Alzheimer’s disease | 7.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004329 | alcohol drinking |
| EFO:0005763 | pulse pressure measurement |
| EFO:0009603 | stroke outcome severity measurement |
| EFO:0008343 | sex interaction measurement |
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
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression | 9 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| bisphenol A | increases methylation, decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| sotorasib | decreases expression, affects cotreatment | 1 |
| propionaldehyde | increases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| butyraldehyde | increases expression | 1 |
| hydroquinone | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| pentanal | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| deguelin | decreases expression | 1 |
| fenpyroximate | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| pyrimidifen | decreases expression | 1 |
| clothianidin | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| thifluzamide | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Aldehydes | increases expression | 1 |
Clinical trials (associated diseases)
202 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 |
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Related Atlas pages
- Associated diseases: neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cerebral amyloid angiopathy