SYNPR

gene
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Also known as MGC26651SPO

Summary

SYNPR (synaptoporin, HGNC:16507) is a protein-coding gene on chromosome 3p14.2, encoding Synaptoporin (Q8TBG9). Intrinsic membrane protein of small synaptic vesicles.

Predicted to be involved in modulation of chemical synaptic transmission. Predicted to be located in membrane; neuron projection; and synaptic vesicle. Predicted to be active in hippocampal mossy fiber to CA3 synapse and synaptic vesicle membrane.

Source: NCBI Gene 132204 — RefSeq curated summary.

At a glance

  • GWAS associations: 6
  • Clinical variants (ClinVar): 45 total — 2 pathogenic
  • MANE Select transcript: NM_001130003

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:16507
Approved symbolSYNPR
Namesynaptoporin
Location3p14.2
Locus typegene with protein product
StatusApproved
AliasesMGC26651, SPO
Ensembl geneENSG00000163630
Ensembl biotypeprotein_coding
Entrez132204

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 7 protein_coding, 6 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000295894, ENST00000450542, ENST00000460142, ENST00000460711, ENST00000465156, ENST00000467934, ENST00000468110, ENST00000472899, ENST00000478300, ENST00000478456, ENST00000478744, ENST00000479198, ENST00000493532, ENST00000496889, ENST00000498449

RefSeq mRNA: 2 — MANE Select: NM_001130003 NM_001130003, NM_144642

CCDS: CCDS46859, CCDS46860

Canonical transcript exons

ENST00000478300 — 6 exons

ExonStartEnd
ENSE000017694876327867763278742
ENSE000018729506327830863278551
ENSE000035546396355654363556741
ENSE000035857766348083263480956
ENSE000036208356360912563609316
ENSE000038501156361522463616924

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 99.03.

FANTOM5 (CAGE): breadth broad, TPM avg 6.6554 / max 992.1752, expressed in 230 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter IDTPM avgSamples expressed
371202.6972210
371302.330392
371310.547677
371270.297168
371260.268867
371230.192465
371280.170561
371240.079442
371290.031317
371250.02899

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
lateral nuclear group of thalamusUBERON:000273699.03gold quality
cerebellar vermisUBERON:000472098.97gold quality
nucleus accumbensUBERON:000188298.32gold quality
lateral globus pallidusUBERON:000247698.31gold quality
Brodmann (1909) area 46UBERON:000648398.08gold quality
middle temporal gyrusUBERON:000277197.93gold quality
caudate nucleusUBERON:000187396.96gold quality
cerebellumUBERON:000203796.74gold quality
cerebellar cortexUBERON:000212996.59gold quality
cerebellar hemisphereUBERON:000224596.53gold quality
superior frontal gyrusUBERON:000266196.50gold quality
Brodmann (1909) area 23UBERON:001355496.46gold quality
putamenUBERON:000187496.02gold quality
prefrontal cortexUBERON:000045196.01gold quality
dorsolateral prefrontal cortexUBERON:000983495.88gold quality
Brodmann (1909) area 9UBERON:001354095.81gold quality
postcentral gyrusUBERON:000258195.68gold quality
right hemisphere of cerebellumUBERON:001489095.36gold quality
parietal lobeUBERON:000187295.26gold quality
frontal cortexUBERON:000187094.73gold quality
entorhinal cortexUBERON:000272894.50gold quality
anterior cingulate cortexUBERON:000983594.40gold quality
Ammon’s hornUBERON:000195494.28gold quality
cerebral cortexUBERON:000095694.07gold quality
neocortexUBERON:000195093.72gold quality
temporal lobeUBERON:000187193.64gold quality
amygdalaUBERON:000187692.78gold quality
endothelial cellCL:000011592.06gold quality
occipital lobeUBERON:000202191.73gold quality
right frontal lobeUBERON:000281091.61gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

ExperimentMarker?Max mean expression
E-HCAD-25yes1630.31
E-HCAD-35yes1517.25
E-MTAB-7316yes1349.06
E-MTAB-11268yes823.37
E-GEOD-135922yes22.68
E-GEOD-84465yes6.75
E-ANND-3yes5.05
E-HCAD-30no1073.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting SYNPR, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4262100.0073.263931
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-10401-5P99.9965.79948
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-570-3P99.9672.414910
HSA-MIR-314399.9371.963104
HSA-MIR-6508-5P99.9270.672465
HSA-MIR-990299.8969.152250
HSA-MIR-806799.8669.592260
HSA-MIR-5582-3P99.8672.484221
HSA-MIR-450399.8571.451869
HSA-MIR-469899.8471.414303
HSA-MIR-3121-3P99.8271.963630
HSA-MIR-4694-3P99.7969.532640
HSA-MIR-129999.7771.242389
HSA-MIR-3617-5P99.7569.411968
HSA-MIR-64199.7569.351975
HSA-MIR-128399.6972.423009
HSA-MIR-580-3P99.6769.231841
HSA-MIR-58699.6570.402051
HSA-MIR-3158-5P99.6567.511763
HSA-MIR-570099.6469.882280
HSA-MIR-29899.6367.561916
HSA-MIR-875-3P99.6369.472548

Literature-anchored findings (GeneRIF, showing 3)

  • Tyrosine nitration of synaptophysin is related to Amyloid beta induced impairment of acetylcholine release. (PMID:12740598)
  • cloning and characterization of the human cDNA that encodes the human homologue of synaptoporin (PMID:12974474)
  • Results from genome-wide association studies identify synaptoporin gene as one of the three susceptibility loci candidate for congenital left-sided lesions. (PMID:25138779)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriosynpraENSDARG00000037587
mus_musculusSynprENSMUSG00000056296
rattus_norvegicusSynprENSRNOG00000008203
caenorhabditis_elegansWBGENE00004979

Paralogs (3): SYPL1 (ENSG00000008282), SYP (ENSG00000102003), SYPL2 (ENSG00000143028)

Protein

Protein identifiers

SynaptoporinQ8TBG9 (reviewed: Q8TBG9)

All UniProt accessions (8): Q8TBG9, B3KVD8, C9J0A2, C9J976, F8WDB8, F8WDF9, F8WE43, F8WF23

UniProt curated annotations — full annotation on UniProt →

Function. Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Synapse. Synaptosome.

Similarity. Belongs to the synaptophysin/synaptobrevin family.

Isoforms (2)

UniProt IDNamesCanonical?
Q8TBG9-11yes
Q8TBG9-22

RefSeq proteins (2): NP_001123475, NP_653243 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001285Synaptophysin/porinFamily
IPR008253MarvelDomain

Pfam: PF01284

UniProt features (24 total): topological domain 5, repeat 5, transmembrane region 4, region of interest 2, compositionally biased region 2, glycosylation site 2, chain 1, domain 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8TBG9-F175.980.37

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): 212

Glycosylation sites (2): 33, 38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 100 (showing top): TTTGTAG_MIR520D, TAL1ALPHAE47_01, TCF4_Q5, WTGAAAT_UNKNOWN, TCF11_01, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, AACTTT_UNKNOWN, MAF_Q6, GOCC_NEURON_PROJECTION, IK3_01, OCT1_B, RIGGI_EWING_SARCOMA_PROGENITOR_UP, chr3p14

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): synaptic vesicle membrane (GO:0030672), neuron projection (GO:0043005), synaptic vesicle (GO:0008021), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
synaptic vesicle1
exocytic vesicle membrane1
plasma membrane bounded cell projection1
exocytic vesicle1
presynapse1
cellular anatomical structure1
cytoplasm1
intracellular vesicle1
cell junction1

Protein interactions and networks

STRING

2112 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SYNPRSYNGR1O43759917
SYNPRSYNGR2O43760734
SYNPRSYN1P17600651
SYNPRSV2BQ7L1I2558
SYNPRRAB3AP20336549
SYNPRALS2Q96Q42540
SYNPRSYNGR3O43761474
SYNPRSLC17A7Q9P2U7461
SYNPRSYT1P21579457
SYNPRREELD1A0A1B0GV85448
SYNPRBDNFP23560443
SYNPRSYN2Q92777430
SYNPRLRRTM1Q86UE6415
SYNPRSYT6Q5T7P8406
SYNPRFARP2O94887402
SYNPRPICK1Q9NRD5402

IntAct

35 interactions, top by confidence:

ABTypeScore
SYNPRFATE1psi-mi:“MI:0915”(physical association)0.560
FATE1SYNPRpsi-mi:“MI:0915”(physical association)0.560
SYNPRSMCO4psi-mi:“MI:0915”(physical association)0.560
SYNPRDOLKpsi-mi:“MI:0915”(physical association)0.560
PLPP6SYNPRpsi-mi:“MI:0915”(physical association)0.560
TUSC5SYNPRpsi-mi:“MI:0915”(physical association)0.560
KTN1SYNPRpsi-mi:“MI:0915”(physical association)0.560
GALNT15SYNPRpsi-mi:“MI:0915”(physical association)0.560
SLC1A1SYNPRpsi-mi:“MI:0915”(physical association)0.560
GPR37L1SYNPRpsi-mi:“MI:0915”(physical association)0.560
SYNPRARLNpsi-mi:“MI:0915”(physical association)0.560
SYNPRLNPKpsi-mi:“MI:0915”(physical association)0.500
SYNPRLNPKpsi-mi:“MI:0915”(physical association)0.400
SYNPRCREB3psi-mi:“MI:0915”(physical association)0.370
SYNPRSPAG9psi-mi:“MI:0914”(association)0.350
SMCO4SYNPRpsi-mi:“MI:0915”(physical association)0.000
DOLKSYNPRpsi-mi:“MI:0915”(physical association)0.000
PLPP6SYNPRpsi-mi:“MI:0915”(physical association)0.000
TUSC5SYNPRpsi-mi:“MI:0915”(physical association)0.000
KTN1SYNPRpsi-mi:“MI:0915”(physical association)0.000
GALNT15SYNPRpsi-mi:“MI:0915”(physical association)0.000
SLC1A1SYNPRpsi-mi:“MI:0915”(physical association)0.000
GPR37L1SYNPRpsi-mi:“MI:0915”(physical association)0.000
ARLNSYNPRpsi-mi:“MI:0915”(physical association)0.000

BioGRID (18): SYNPR (Two-hybrid), KIAA1715 (Affinity Capture-MS), KIAA1715 (Affinity Capture-MS), FATE1 (Two-hybrid), CREB3 (Two-hybrid), SYNPR (Two-hybrid), SYNPR (Two-hybrid), SYNPR (Two-hybrid), C4orf3 (Two-hybrid), SMCO4 (Two-hybrid), GPR37L1 (Two-hybrid), DOLK (Two-hybrid), TUSC5 (Two-hybrid), PPAPDC2 (Two-hybrid), KIAA1715 (Affinity Capture-MS)

ESM2 similar proteins: A2VE58, A3KQ86, A6H7B0, A7E3W5, A8MWL6, B2RZ87, O43759, O43760, O43761, O54980, O55100, O55101, O76735, O95473, P07825, P08247, P0DI73, P20488, P22831, P47987, P79826, Q08AU7, Q08DL4, Q28793, Q2YDD6, Q5EBF8, Q5R703, Q5RER2, Q5XGR0, Q5XIT3, Q5YJC1, Q62277, Q62876, Q642A2, Q6RW13, Q7JYV2, Q7TQJ1, Q8BGN8, Q8R191, Q8TBG9

Diamond homologs: O09117, O62646, O89104, P07825, P08247, P20488, P22831, Q16563, Q5VXT5, Q5YJC1, Q62277, Q8BGN8, Q8TBG9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic2
Likely pathogenic0
Uncertain significance38
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (2)

Variant IDHGVSClassification
150755GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1Pathogenic
814449GRCh37/hg19 3p14.2-14.1(chr3:60449667-65561638)x1Pathogenic

SpliceAI

2998 predictions. Top by Δscore:

VariantEffectΔscore
3:63278547:GTCAG:Gdonor_gain1.0000
3:63278550:AG:Adonor_loss1.0000
3:63278551:GGTGA:Gdonor_loss1.0000
3:63278552:G:GAdonor_loss1.0000
3:63288353:TTTAA:Tdonor_gain1.0000
3:63480830:A:AGacceptor_gain1.0000
3:63480831:G:GGacceptor_gain1.0000
3:63480952:TTCAG:Tdonor_loss1.0000
3:63480953:TCAGG:Tdonor_loss1.0000
3:63480954:CAGG:Cdonor_loss1.0000
3:63480955:AGG:Adonor_loss1.0000
3:63480956:GGT:Gdonor_loss1.0000
3:63480957:G:Tdonor_loss1.0000
3:63480958:T:Adonor_loss1.0000
3:63556737:TCATT:Tdonor_gain1.0000
3:63556739:ATT:Adonor_gain1.0000
3:63556740:TT:Tdonor_gain1.0000
3:63556742:G:GGdonor_gain1.0000
3:63609158:T:TAacceptor_gain1.0000
3:63278659:C:Aacceptor_gain0.9900
3:63278665:A:AGacceptor_gain0.9900
3:63278666:T:Gacceptor_gain0.9900
3:63278674:A:Gacceptor_gain0.9900
3:63480826:CCACA:Cacceptor_loss0.9900
3:63480827:CACAG:Cacceptor_loss0.9900
3:63480828:ACAG:Aacceptor_loss0.9900
3:63480829:C:Gacceptor_gain0.9900
3:63480829:CAG:Cacceptor_loss0.9900
3:63480830:A:Cacceptor_loss0.9900
3:63480831:G:GAacceptor_loss0.9900

AlphaMissense

1857 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
3:63480850:T:CF15L1.000
3:63480852:T:AF15L1.000
3:63480852:T:GF15L1.000
3:63480952:T:CF49L1.000
3:63480954:C:AF49L1.000
3:63480954:C:GF49L1.000
3:63609158:T:AW128R1.000
3:63609158:T:CW128R1.000
3:63609179:T:AW135R1.000
3:63609179:T:CW135R1.000
3:63609181:G:CW135C1.000
3:63609181:G:TW135C1.000
3:63609192:T:CL139P1.000
3:63609312:C:TS179F1.000
3:63615230:G:AG183R1.000
3:63615230:G:CG183R1.000
3:63615231:G:AG183E1.000
3:63615241:C:AN186K1.000
3:63615241:C:GN186K1.000
3:63615251:T:AW190R1.000
3:63615251:T:CW190R1.000
3:63615269:T:CF196L1.000
3:63615271:T:AF196L1.000
3:63615271:T:GF196L1.000
3:63615280:G:CK199N1.000
3:63615280:G:TK199N1.000
3:63480848:C:AA14E0.999
3:63480860:G:AC18Y0.999
3:63480861:C:GC18W0.999
3:63480898:T:AC31S0.999

dbSNP variants (sampled 300 via entrez): RS1000006486 (3:63263529 T>C), RS1000007625 (3:63587975 A>G), RS1000011324 (3:63380948 A>C), RS1000013173 (3:63198674 T>C,G), RS1000020356 (3:63367571 G>A,C), RS1000031477 (3:63367944 T>C), RS1000034307 (3:63404549 G>A,T), RS1000035545 (3:63417454 C>T), RS1000036588 (3:63308363 T>C), RS1000042281 (3:63265800 C>T), RS1000048894 (3:63546137 G>C), RS1000050858 (3:63548384 G>A,C,T), RS1000055836 (3:63424170 T>C), RS1000061394 (3:63443073 G>A,T), RS1000069527 (3:63301738 T>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

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

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

StudyTraitp-value
GCST002572_2Congenital left-sided heart lesions3.000000e-07
GCST004718_10Congenital heart disease (inherited effect)4.000000e-06
GCST005231_46Major depressive disorder6.000000e-06
GCST008153_50Lean body mass9.000000e-06
GCST010172_13Idiopathic downbeat nystagmus9.000000e-06
GCST012498_3Autism5.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004995lean body mass

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008607Intellectual DisabilityC10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression7
mercuric bromideincreases expression, affects cotreatment2
Panobinostataffects cotreatment, increases expression2
methylmercuric chloridedecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinaffects cotreatment, increases expression1
Resveratrolaffects cotreatment, decreases expression1
Sunitinibincreases expression1
Benzo(a)pyreneaffects methylation, increases methylation1
Leadaffects expression1
Plant Extractsaffects cotreatment, decreases expression1
Rotenonedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
1-Methyl-4-phenylpyridiniumdecreases expression1
Aflatoxin B1increases methylation1
p-Chloromercuribenzoic Acidincreases expression1

Clinical trials (associated diseases)

197 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT05657860PHASE4COMPLETEDGuanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479PHASE4RECRUITINGMetformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829PHASE4WITHDRAWNValbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198PHASE4NOT_YET_RECRUITINGDeutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736PHASE3COMPLETEDClinical 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
NCT02304302PHASE2COMPLETEDDown Syndrome Memantine Follow-up Study
NCT03862950PHASE2COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226PHASE2UNKNOWNStudy to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856PHASE2COMPLETEDEvaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320PHASE1COMPLETEDClinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361PHASE1ENROLLING_BY_INVITATIONSensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764PHASE1COMPLETEDUse of MRI and cTBS for Catatonia in Autism
NCT06586827PHASE1COMPLETEDImpact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940PHASE1NOT_YET_RECRUITINGEscalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476PHASE2/PHASE3COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796PHASE1/PHASE2COMPLETEDEffects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672EARLY_PHASE1RECRUITINGClinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948Not specifiedCOMPLETEDHealthy Lifestyles for People With Intellectual Disabilities
NCT01087320Not specifiedRECRUITINGGenome Medical Sequencing for Gene Discovery
NCT01652963Not specifiedUNKNOWNPicture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395Not specifiedCOMPLETEDMental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554Not specifiedCOMPLETEDResearch and Characterization of New Genes Involved in Intellectual Disability
NCT01915381Not specifiedCOMPLETEDImproving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623Not specifiedCOMPLETEDPivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773Not specifiedCOMPLETEDSupport Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849Not specifiedCOMPLETEDInter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041Not specifiedCOMPLETEDSedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438Not specifiedCOMPLETEDEstablishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761Not specifiedCOMPLETEDApparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420Not specifiedACTIVE_NOT_RECRUITINGMapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459Not specifiedACTIVE_NOT_RECRUITINGAutism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081Not specifiedCOMPLETEDDevelopment and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502Not specifiedCOMPLETEDEnhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277Not specifiedCOMPLETEDDiabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754Not specifiedCOMPLETEDWeight Management for Adolescents With IDD
NCT02591446Not specifiedCOMPLETEDTranscranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868Not specifiedCOMPLETEDEvaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394Not specifiedUNKNOWNFCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614Not specifiedCOMPLETEDPsychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405Not specifiedCOMPLETEDTMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): congenital left-sided heart lesions