PROSER1
geneOn this page
Also known as bA50D16.2FLJ12661
Summary
PROSER1 (proline and serine rich 1, HGNC:20291) is a protein-coding gene on chromosome 13q13.3, encoding Proline and serine-rich protein 1 (Q86XN7). Mediates OGT interaction with and O-GlcNAcylation of TET2 to control TET2 stabilization at enhancers and CpG islands (CGIs).
This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions.
Source: NCBI Gene 80209 — RefSeq curated summary.
At a glance
- Gene–disease (curated): syndromic disease (Limited, GenCC) — +1 more curated relationship
- GWAS associations: 2
- Clinical variants (ClinVar): 169 total
- MANE Select transcript:
NM_025138
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20291 |
| Approved symbol | PROSER1 |
| Name | proline and serine rich 1 |
| Location | 13q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bA50D16.2, FLJ12661 |
| Ensembl gene | ENSG00000120685 |
| Ensembl biotype | protein_coding |
| OMIM | 620773 |
| Entrez | 80209 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 7 protein_coding, 6 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000352251, ENST00000418503, ENST00000436678, ENST00000468017, ENST00000484434, ENST00000492646, ENST00000496138, ENST00000602512, ENST00000602534, ENST00000602899, ENST00000625998, ENST00000897453, ENST00000897454, ENST00000897455, ENST00000922251
RefSeq mRNA: 2 — MANE Select: NM_025138
NM_025138, NM_170719
CCDS: CCDS45041, CCDS9368
Canonical transcript exons
ENST00000352251 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001602249 | 39012691 | 39014476 |
| ENSE00001795498 | 39022326 | 39022412 |
| ENSE00003461538 | 39023052 | 39023130 |
| ENSE00003572812 | 39024473 | 39024556 |
| ENSE00003573875 | 39031563 | 39031631 |
| ENSE00003607500 | 39029281 | 39029375 |
| ENSE00003640320 | 39026277 | 39026387 |
| ENSE00003642079 | 39012083 | 39012233 |
| ENSE00003657597 | 39017500 | 39017544 |
| ENSE00003682056 | 39034131 | 39034196 |
| ENSE00003788216 | 39028227 | 39028320 |
| ENSE00003844266 | 39037198 | 39038089 |
| ENSE00003845398 | 39009865 | 39011487 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 99.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.1496 / max 379.9191, expressed in 1807 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 136882 | 9.2428 | 1714 |
| 136878 | 7.7164 | 1603 |
| 136881 | 2.0522 | 872 |
| 136873 | 1.8331 | 904 |
| 136872 | 0.8445 | 525 |
| 136875 | 0.7809 | 473 |
| 136876 | 0.4923 | 246 |
| 136877 | 0.4562 | 237 |
| 136871 | 0.3575 | 185 |
| 136874 | 0.1452 | 49 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.91 | gold quality |
| oocyte | CL:0000023 | 99.84 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.31 | gold quality |
| body of pancreas | UBERON:0001150 | 90.26 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.67 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.59 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.59 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.54 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 89.48 | gold quality |
| skin of leg | UBERON:0001511 | 89.31 | gold quality |
| placenta | UBERON:0001987 | 89.18 | gold quality |
| rectum | UBERON:0001052 | 88.86 | gold quality |
| granulocyte | CL:0000094 | 88.74 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 88.15 | gold quality |
| transverse colon | UBERON:0001157 | 88.10 | gold quality |
| cerebellum | UBERON:0002037 | 88.03 | gold quality |
| monocyte | CL:0000576 | 88.00 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 87.94 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 87.81 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.68 | gold quality |
| leukocyte | CL:0000738 | 87.67 | gold quality |
| cortical plate | UBERON:0005343 | 87.67 | gold quality |
| mononuclear cell | CL:0000842 | 87.66 | gold quality |
| upper lobe of lung | UBERON:0008948 | 87.62 | gold quality |
| zone of skin | UBERON:0000014 | 87.55 | gold quality |
| ventricular zone | UBERON:0003053 | 87.55 | gold quality |
| minor salivary gland | UBERON:0001830 | 87.26 | gold quality |
| pancreas | UBERON:0001264 | 86.81 | gold quality |
| spleen | UBERON:0002106 | 86.72 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.57 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
156 targeting PROSER1, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
Literature-anchored findings (GeneRIF, showing 2)
- Genomic regions have been identified demonstrating significant evidence for single nucleotide polymorphism linkage to Crohn’s disease on chromosomes 16q12.1 and 13q13.3, and suggestive evidence for linkage to ulcerative colitis on chromosome 19p12. (PMID:18246054)
- PROSER1 mediates TET2 O-GlcNAcylation to regulate DNA demethylation on UTX-dependent enhancers and CpG islands. (PMID:34667079)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | proser1 | ENSDARG00000086302 |
| mus_musculus | Proser1 | ENSMUSG00000049504 |
| rattus_norvegicus | Proser1 | ENSRNOG00000010980 |
Protein
Protein identifiers
Proline and serine-rich protein 1 — Q86XN7 (reviewed: Q86XN7)
All UniProt accessions (2): Q86XN7, Q5JS36
UniProt curated annotations — full annotation on UniProt →
Function. Mediates OGT interaction with and O-GlcNAcylation of TET2 to control TET2 stabilization at enhancers and CpG islands (CGIs).
Subunit / interactions. Interacts with TET2 and OGT; this interaction mediates TET2 O-GlcNAcylation and stability by promoting the interaction between OGT and TET2. Interacts with KDM6A. Interacts with TET1.
Post-translational modifications. Glycosylated. Interaction with OGT leads to GlcNAcylation.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86XN7-1 | 1 | yes |
| Q86XN7-2 | 2 |
RefSeq proteins (2): NP_079414, NP_733837 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028011 | DUF4476 | Domain |
| IPR042616 | PROSER1 | Family |
Pfam: PF14771
UniProt features (15 total): region of interest 4, sequence conflict 3, compositionally biased region 3, sequence variant 2, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86XN7-F1 | 45.64 | 0.08 |
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): 1
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 127 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, chr13q13, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, WTGAAAT_UNKNOWN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, LAIHO_COLORECTAL_CANCER_SERRATED_DN, SCGGAAGY_ELK1_02, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_UP, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_DN, BENPORATH_PROLIFERATION, STAT6_01, STK33_DN, STK33_NOMO_DN
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
442 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PROSER1 | NHLRC3 | Q5JS37 | 664 |
| PROSER1 | CABP7 | Q86V35 | 507 |
| PROSER1 | FREM2 | Q5SZK8 | 497 |
| PROSER1 | QSER1 | Q2KHR3 | 477 |
| PROSER1 | CCDC169 | A6NNP5 | 475 |
| PROSER1 | STOML3 | Q8TAV4 | 474 |
| PROSER1 | KIAA0825 | Q8IV33 | 447 |
| PROSER1 | TOR1AIP1 | Q5JTV8 | 433 |
| PROSER1 | SACS | Q9NZJ4 | 425 |
| PROSER1 | TMEM185B | Q9H7F4 | 418 |
| PROSER1 | NAA16 | Q6N069 | 376 |
| PROSER1 | SERTM1 | A2A2V5 | 375 |
| PROSER1 | ATOSA | Q32MH5 | 370 |
| PROSER1 | CSNK1A1L | Q8N752 | 365 |
| PROSER1 | VWA8 | A3KMH1 | 356 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NONO | SFPQ | psi-mi:“MI:0914”(association) | 0.900 |
| NONO | SERPINB7 | psi-mi:“MI:0914”(association) | 0.530 |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| NONO | GYG2 | psi-mi:“MI:0914”(association) | 0.350 |
| PSPC1 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAP7 | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| TOMM20 | NUDT19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HNF1B | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PAX8 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PAX9 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SOX10 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SOX2 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SOX5 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SOX6 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SP7 | IGF2BP3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TBR1 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TLX3 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FHIP1B | MED19 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (41): PROSER1 (Proximity Label-MS), PROSER1 (Affinity Capture-MS), PROSER1 (Affinity Capture-MS), PROSER1 (Proximity Label-MS), PROSER1 (Proximity Label-MS), PROSER1 (Affinity Capture-RNA), PROSER1 (Affinity Capture-MS), PROSER1 (Proximity Label-MS), PROSER1 (Affinity Capture-MS), PROSER1 (Affinity Capture-MS), PROSER1 (Affinity Capture-MS), PROSER1 (Proximity Label-MS), PROSER1 (Proximity Label-MS), PROSER1 (Proximity Label-MS), PROSER1 (Proximity Label-MS)
ESM2 similar proteins: A0JME2, A5H447, A6NF01, A8CG34, E9Q3G8, F4ID16, G0SDP9, G5E8Z2, O08587, O15504, O88797, O95081, P20676, P49790, P49791, P52591, P52594, P98082, Q03173, Q0VA45, Q2TA45, Q4KLH5, Q5FVW4, Q5PRE5, Q5RB98, Q5SV85, Q5XGN1, Q5ZI22, Q5ZIE8, Q5ZM88, Q64028, Q640Z6, Q6P0U9, Q80WC7, Q86XN7, Q8CIC2, Q8K2K6, Q8K3Z9, Q8L7F7, Q8R080
Diamond homologs: Q5PRE5, Q86XN7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
169 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 129 |
| Likely benign | 8 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2183 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:39012078:CTTAC:C | donor_loss | 1.0000 |
| 13:39012079:TTA:T | donor_loss | 1.0000 |
| 13:39012080:TA:T | donor_loss | 1.0000 |
| 13:39012081:A:AC | donor_gain | 1.0000 |
| 13:39012081:A:AG | donor_loss | 1.0000 |
| 13:39012082:C:CC | donor_gain | 1.0000 |
| 13:39012082:CCTG:C | donor_gain | 1.0000 |
| 13:39012229:ATAAA:A | acceptor_gain | 1.0000 |
| 13:39012230:TAAA:T | acceptor_gain | 1.0000 |
| 13:39012231:AAA:A | acceptor_gain | 1.0000 |
| 13:39012231:AAAC:A | acceptor_loss | 1.0000 |
| 13:39012232:AA:A | acceptor_gain | 1.0000 |
| 13:39012232:AAC:A | acceptor_loss | 1.0000 |
| 13:39012233:ACTA:A | acceptor_loss | 1.0000 |
| 13:39012234:C:CA | acceptor_loss | 1.0000 |
| 13:39012234:C:CC | acceptor_gain | 1.0000 |
| 13:39017492:CTACT:C | donor_loss | 1.0000 |
| 13:39017493:TACTT:T | donor_loss | 1.0000 |
| 13:39017494:ACTTA:A | donor_loss | 1.0000 |
| 13:39017495:CTTA:C | donor_loss | 1.0000 |
| 13:39017496:TTA:T | donor_loss | 1.0000 |
| 13:39017497:TA:T | donor_loss | 1.0000 |
| 13:39017498:A:AC | donor_gain | 1.0000 |
| 13:39017499:C:CA | donor_loss | 1.0000 |
| 13:39017499:C:CC | donor_gain | 1.0000 |
| 13:39017499:CT:C | donor_gain | 1.0000 |
| 13:39017545:C:CC | acceptor_gain | 1.0000 |
| 13:39017549:A:C | acceptor_gain | 1.0000 |
| 13:39023050:A:AC | donor_gain | 1.0000 |
| 13:39023051:C:CC | donor_gain | 1.0000 |
AlphaMissense
5918 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:39029296:A:G | L87P | 1.000 |
| 13:39029335:A:G | L74P | 1.000 |
| 13:39031618:A:G | L42P | 1.000 |
| 13:39034144:A:G | F33S | 1.000 |
| 13:39028234:A:G | L121P | 0.999 |
| 13:39028276:A:G | F107S | 0.999 |
| 13:39029296:A:T | L87H | 0.999 |
| 13:39029299:G:T | A86D | 0.999 |
| 13:39029319:G:C | F79L | 0.999 |
| 13:39029319:G:T | F79L | 0.999 |
| 13:39029321:A:G | F79L | 0.999 |
| 13:39029326:A:G | F77S | 0.999 |
| 13:39029335:A:T | L74H | 0.999 |
| 13:39031583:C:G | A54P | 0.999 |
| 13:39031604:A:G | W47R | 0.999 |
| 13:39031604:A:T | W47R | 0.999 |
| 13:39031608:A:C | F45L | 0.999 |
| 13:39031608:A:T | F45L | 0.999 |
| 13:39031609:A:G | F45S | 0.999 |
| 13:39031610:A:G | F45L | 0.999 |
| 13:39034150:C:T | G31E | 0.999 |
| 13:39037214:A:G | L10P | 0.999 |
| 13:39026318:A:C | Y147D | 0.998 |
| 13:39028245:G:C | C117W | 0.998 |
| 13:39029320:A:G | F79S | 0.998 |
| 13:39029335:A:C | L74R | 0.998 |
| 13:39029338:A:C | I73R | 0.998 |
| 13:39029338:A:T | I73K | 0.998 |
| 13:39029362:A:T | V65D | 0.998 |
| 13:39029373:T:A | K61N | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000196293 (13:39019378 C>T), RS1000290460 (13:39028182 G>A,C,T), RS1000306303 (13:39034393 C>G), RS1000369874 (13:39033671 G>A), RS1000530719 (13:39018048 C>T), RS1000660589 (13:39027864 C>A), RS1000763337 (13:39035429 T>C,G), RS1000787924 (13:39009807 C>T), RS1000978094 (13:39016639 T>C), RS1001011706 (13:39031141 T>C), RS1001060976 (13:39029682 G>C,T), RS1001087122 (13:39024675 T>C), RS1001094070 (13:39023065 T>C), RS1001193173 (13:39011714 T>C), RS1001402850 (13:39017898 C>T)
Disease associations
OMIM: gene MIM:620773 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| syndromic disease | Limited | Autosomal recessive |
| neurodevelopmental disorder | Limited | Autosomal recessive |
Mondo (2): syndromic disease (MONDO:0002254), neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003518_90 | Daytime sleep phenotypes | 5.000000e-06 |
| GCST007511_14 | Alzheimer’s disease (late onset) | 4.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007828 | daytime rest measurement |
| EFO:1001870 | late-onset Alzheimers disease |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
| D013577 | Syndrome | C23.550.288.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenite | increases abundance, increases expression, affects cotreatment | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| abrine | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cadmium | increases abundance, decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Lead | affects expression | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
227 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 |
| NCT00027456 | PHASE2 | COMPLETED | Leptin to Treat Severe Insulin Resistance - Pilot Study |
| 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 |
| NCT00213447 | Not specified | COMPLETED | T Cell Response in Hypersensitivity Syndrome |
| NCT02240888 | Not specified | COMPLETED | Vaccination in Inflammatory Rheumatic Disease (VACCIMIL). The Impact of Antirheumatic Treatment on Antibody Response |
| NCT02526082 | Not specified | ACTIVE_NOT_RECRUITING | Long-term Follow-up of the Helsinki Businessmen Study |
| NCT02637518 | Not specified | UNKNOWN | Comprehensive Validation of Frailty Assessment Tools in Older Adults in Different Clinical and Social Settings |
| NCT02971072 | Not specified | COMPLETED | Neurophysiology of Weakness and Exercise in Rotator Cuff Tendinopathy |
| NCT02974569 | Not specified | COMPLETED | Improving Symptom Self-management in Adolescents & Young Adults With Cancer |
| NCT03265561 | Not specified | COMPLETED | Spinal Infection Management With Structural Allograft |
| NCT04190342 | Not specified | COMPLETED | Effects of a Traditional Chinese Exercise Program on Symptom Cluster in Breast Cancer Patients |
| NCT04874584 | Not specified | COMPLETED | Culturally Tailored Nurse Coaching Study for Cancer Symptom Management |
| NCT04909489 | Not specified | UNKNOWN | PDR and SKYD of Dyslipidemia’s Characteristics From the Oxidative Stress Enhancement Caused by Inhibition of Serine Metabolic Pathway |
| NCT05218122 | Not specified | UNKNOWN | Characteristics of LKDS and PBSS of KOA Based on the Enhancement of Inflammatory Response by TGF-β/Smad Pathway Inhibited |
| NCT05266118 | Not specified | COMPLETED | Patient Reported Symptoms the First Week After Intensive Care Unit Discharge and up to Hospital Discharge |
| NCT05321966 | Not specified | COMPLETED | The Effect of Video Training on Symptom Burden Patients Undergoing Hemodialysis Treatment |
| NCT05818748 | Not specified | UNKNOWN | Effect Of Virtual Reality Distraction on Symptom Control and Anxiety in Children With Leukemia |
| NCT05837988 | Not specified | UNKNOWN | Construction of Symptom Network in Maintenance Hemodialysis Patients |
| NCT06143436 | Not specified | UNKNOWN | TCM Constitution, Pattern Types, and Disease Factors in Primary Lung Cancer. |
| NCT06222008 | Not specified | UNKNOWN | Study on Symptom Clusters During Chemotherapy in Ovarian Cancer Patients With Different Chinese Medicine Constitution |
| NCT06412107 | Not specified | COMPLETED | Somatic Acupressure for Symptom Cluster Management in Breast Cancer Survivors |
| NCT06847360 | Not specified | RECRUITING | Home-based Transcutaneous Auricular Vagus Nerve Stimulation (taVNS) for IBS Pain |
| NCT07281300 | Not specified | RECRUITING | Mindfulness-Oriented Respiratory Distress Symptom Intervention for Lung Cancer |
| NCT07315672 | Not specified | RECRUITING | Acupressure for Cough in Lung Cancer Survivors |
| NCT07479654 | Not specified | NOT_YET_RECRUITING | AI-Enabled Frailty Risk Prediction in Adult Congenital Heart Disease |
| NCT07495358 | Not specified | NOT_YET_RECRUITING | Development and Usability Evaluation of a Knowledge Graph-Based Symptom Management System for Patients With Breast Cancer Undergoing Chemotherapy |
| NCT07576114 | Not specified | RECRUITING | Comparison of Gluteal Muscle Activation and Core Strengthening in Dead Butt Syndrome Syndrome |
| 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 |
Related Atlas pages
- Associated diseases: syndromic disease, neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): syndromic disease