PDZD4

gene
On this page

Also known as KIAA1444LU1FLJ34125PDZRN4LLNX5

Summary

PDZD4 (PDZ domain containing 4, HGNC:21167) is a protein-coding gene on chromosome Xq28, encoding PDZ domain-containing protein 4 (Q76G19).

Predicted to be located in cell cortex.

Source: NCBI Gene 57595 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 114 total — 1 pathogenic
  • Phenotypes (HPO): 2
  • MANE Select transcript: NM_001303512

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21167
Approved symbolPDZD4
NamePDZ domain containing 4
LocationXq28
Locus typegene with protein product
StatusApproved
AliasesKIAA1444, LU1, FLJ34125, PDZRN4L, LNX5
Ensembl geneENSG00000067840
Ensembl biotypeprotein_coding
OMIM300634
Entrez57595

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000164640, ENST00000393758, ENST00000468491, ENST00000475140, ENST00000480418, ENST00000480650, ENST00000483693, ENST00000484792, ENST00000544474, ENST00000933007, ENST00000933008, ENST00000933009

RefSeq mRNA: 6 — MANE Select: NM_001303512 NM_001303512, NM_001303513, NM_001303514, NM_001303515, NM_001303516, NM_032512

CCDS: CCDS14732, CCDS78517, CCDS78518

Canonical transcript exons

ENST00000393758 — 8 exons

ExonStartEnd
ENSE00001952046153802166153804900
ENSE00003464827153807279153807369
ENSE00003477577153805505153805606
ENSE00003507047153806742153806840
ENSE00003680668153805097153805207
ENSE00003692386153806071153806133
ENSE00003734314153808342153808595
ENSE00003916725153830239153830544

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 99.46.

FANTOM5 (CAGE): breadth broad, TPM avg 8.9043 / max 373.9959, expressed in 662 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter IDTPM avgSamples expressed
2009147.6114648
2009100.4991106
2009120.4439228
2009130.149076
2009110.105452
2009090.058933
2009080.036622

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right hemisphere of cerebellumUBERON:001489099.46gold quality
cerebellar hemisphereUBERON:000224599.41gold quality
cerebellar cortexUBERON:000212999.38gold quality
right frontal lobeUBERON:000281099.25gold quality
anterior cingulate cortexUBERON:000983598.96gold quality
cortical plateUBERON:000534398.87gold quality
Brodmann (1909) area 9UBERON:001354098.78gold quality
cerebellumUBERON:000203798.77gold quality
prefrontal cortexUBERON:000045198.74gold quality
amygdalaUBERON:000187698.49gold quality
nucleus accumbensUBERON:000188298.27gold quality
dorsolateral prefrontal cortexUBERON:000983498.20gold quality
frontal cortexUBERON:000187097.94gold quality
caudate nucleusUBERON:000187397.92gold quality
neocortexUBERON:000195097.91gold quality
putamenUBERON:000187497.85gold quality
embryoUBERON:000092297.65gold quality
ganglionic eminenceUBERON:000402397.65gold quality
cerebral cortexUBERON:000095697.15gold quality
hypothalamusUBERON:000189896.86gold quality
forebrainUBERON:000189096.66gold quality
brainUBERON:000095596.54gold quality
granulocyteCL:000009496.34gold quality
Ammon’s hornUBERON:000195496.31gold quality
temporal lobeUBERON:000187195.93gold quality
right uterine tubeUBERON:000130295.85gold quality
cerebellar vermisUBERON:000472095.47gold quality
C1 segment of cervical spinal cordUBERON:000646994.90gold quality
superior frontal gyrusUBERON:000266194.78gold quality
adenohypophysisUBERON:000219694.67gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no1.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting PDZD4, 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-8485100.0077.574731
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-6798-5P100.0065.77699
HSA-MIR-4283100.0066.422097
HSA-MIR-6817-3P99.7968.352126
HSA-MIR-430699.7270.503630
HSA-MIR-371499.7170.742671
HSA-MIR-361899.6968.571012
HSA-MIR-128399.6972.423009
HSA-MIR-497-3P99.6169.711990
HSA-MIR-569599.4167.481047
HSA-MIR-185-5P99.3568.602497
HSA-MIR-464499.3569.122514
HSA-MIR-4667-3P99.2665.451608
HSA-MIR-361-3P99.1966.451381
HSA-MIR-544B99.1867.411632
HSA-MIR-6734-3P99.1566.271627
HSA-MIR-6809-5P99.1368.451223
HSA-MIR-6749-3P99.0065.731443
HSA-MIR-6728-3P98.6367.631534
HSA-MIR-31-5P98.5868.351239
HSA-MIR-5088-3P98.2966.631310
HSA-MIR-147098.1163.53399
HSA-MIR-615-5P98.1063.76591
HSA-MIR-5681A97.9967.171658
HSA-MIR-526B-5P97.4167.991074
HSA-MIR-428897.1167.231636
HSA-MIR-60297.0961.68156
HSA-MIR-519296.8963.35879
HSA-MIR-339-5P96.7366.01820

Literature-anchored findings (GeneRIF, showing 2)

  • Might play an important role in the proliferation of SS cells and might be a suitable target for SS drugs. (PMID:15077175)
  • PDZRN4L showed 49.9% total-amino-acid identity with PDZRN4 short isoform (PDZRN4S). PDZ, PR34H1 and PR34H2 domains were conserved between PDZRN4L and PDZRN4S. (PMID:15138636)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_rerioPDZD4ENSDARG00000090564
danio_rerioPDZD4ENSDARG00000098823
mus_musculusPdzd4ENSMUSG00000002006
rattus_norvegicusPdzd4ENSRNOG00000056174
drosophila_melanogasterSlip1FBGN0024728
caenorhabditis_elegansWBGENE00016846

Paralogs (2): PDZRN3 (ENSG00000121440), PDZRN4 (ENSG00000165966)

Protein

Protein identifiers

PDZ domain-containing protein 4Q76G19 (reviewed: Q76G19)

Alternative names: PDZ domain-containing RING finger protein 4-like protein

All UniProt accessions (3): Q76G19, Q17RL8, V9GYN6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cell cortex.

Tissue specificity. Brain-specific. Expressed in fetal and adult brain. Up-regulated in synovial carcinomas.

Isoforms (2)

UniProt IDNamesCanonical?
Q76G19-11yes
Q76G19-22

RefSeq proteins (6): NP_001290441, NP_001290442, NP_001290443, NP_001290444, NP_001290445, NP_115901 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001478PDZDomain
IPR036034PDZ_sfHomologous_superfamily
IPR051971E3_ubiquitin-PDZ_ligaseFamily

Pfam: PF00595

UniProt features (15 total): compositionally biased region 5, modified residue 2, region of interest 2, chain 1, domain 1, splice variant 1, sequence variant 1, sequence conflict 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q76G19-F157.410.07

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): 236, 454

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 53 (showing top): EFC_Q6, AGCTCCT_MIR28, RAAGNYNNCTTY_UNKNOWN, AHR_Q5, RFX1_01, CHENG_IMPRINTED_BY_ESTRADIOL, chrXq28, MTF1_Q4, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, SREBP_Q3, GSE13522_CTRL_VS_T_CRUZI_BRAZIL_STRAIN_INF_SKIN_DN, MIR8485, MIR1283, MIR6809_5P, MIR31_5P

GO Biological Process (0):

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

GO Cellular Component (2): cell cortex (GO:0005938), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
cytoplasm1
cell periphery1
intracellular anatomical structure1
cellular anatomical structure1

Protein interactions and networks

STRING

826 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PDZD4BCAMP50895749
PDZD4CNTN6Q9UQ52549
PDZD4MCAMP43121548
PDZD4LAMA5O15230547
PDZD4LIPNQ5VXI9528
PDZD4FUT2Q10981497
PDZD4CFTRP13569455
PDZD4LNX2Q8N448447
PDZD4HSFX1Q9UBD0447
PDZD4IDH3GP51553444
PDZD4TGM1P22735435
PDZD4KELP23276428
PDZD4NHERF4Q86UT5418
PDZD4RASSF7Q02833416
PDZD4MARVELD1Q9BSK0414

IntAct

31 interactions, top by confidence:

ABTypeScore
MAP2K2PDZD4psi-mi:“MI:0407”(direct interaction)0.440
KIR3DL3PDZD4psi-mi:“MI:0407”(direct interaction)0.440
ABCC4PDZD4psi-mi:“MI:0407”(direct interaction)0.440
ARHGEF16PDZD4psi-mi:“MI:0407”(direct interaction)0.440
ASIC3PDZD4psi-mi:“MI:0407”(direct interaction)0.440
PDZD4ATP2B4psi-mi:“MI:0407”(direct interaction)0.440
CYSLTR2PDZD4psi-mi:“MI:0407”(direct interaction)0.440
DGKKPDZD4psi-mi:“MI:0407”(direct interaction)0.440
DGKZPDZD4psi-mi:“MI:0407”(direct interaction)0.440
DOCK4PDZD4psi-mi:“MI:0407”(direct interaction)0.440
FRMPD4PDZD4psi-mi:“MI:0407”(direct interaction)0.440
FZD7PDZD4psi-mi:“MI:0407”(direct interaction)0.440
TAMALINPDZD4psi-mi:“MI:0407”(direct interaction)0.440
PDZD4E6psi-mi:“MI:0407”(direct interaction)0.440
E6PDZD4psi-mi:“MI:0407”(direct interaction)0.440
ORF putative E6PDZD4psi-mi:“MI:0407”(direct interaction)0.440
KCNA5PDZD4psi-mi:“MI:0407”(direct interaction)0.440
PBKPDZD4psi-mi:“MI:0407”(direct interaction)0.440
RALBP1PDZD4psi-mi:“MI:0407”(direct interaction)0.440
RASSF6PDZD4psi-mi:“MI:0407”(direct interaction)0.440
SLC15A5PDZD4psi-mi:“MI:0407”(direct interaction)0.440
SLCO1C1PDZD4psi-mi:“MI:0407”(direct interaction)0.440
TJP2PDZD4psi-mi:“MI:0407”(direct interaction)0.440
PDZD4APIPpsi-mi:“MI:0915”(physical association)0.370
Prdm16ESYT2psi-mi:“MI:0914”(association)0.350
MecomESYT2psi-mi:“MI:0914”(association)0.350
NDEL1PDZD4psi-mi:“MI:0915”(physical association)0.000
mutLPDZD4psi-mi:“MI:0915”(physical association)0.000
GFI1BPDZD4psi-mi:“MI:0915”(physical association)0.000

BioGRID (22): PDZD4 (Two-hybrid), PDZD4 (Reconstituted Complex), CEP76 (Two-hybrid), KCTD9 (Two-hybrid), ENKD1 (Two-hybrid), TRAF2 (Two-hybrid), TRAF3 (Two-hybrid), MTUS2 (Two-hybrid), DNMT3L (Two-hybrid), CTDSP1 (Two-hybrid), IKZF3 (Two-hybrid), DYDC1 (Two-hybrid), ASCL4 (Two-hybrid), JRK (Two-hybrid), PDZD4 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JUG7, A1L390, E9Q0S6, O08774, O14924, O15085, O43182, O54834, O54960, O60307, O75052, P57095, Q13009, Q3U1V8, Q3U214, Q3UHC7, Q4VAC9, Q5DU25, Q5JU85, Q5RBI7, Q5SXA9, Q5VWQ8, Q60610, Q64512, Q6AX33, Q6DN90, Q6NXJ0, Q6P0Q8, Q6P1I6, Q6ZMN7, Q76G19, Q76LL6, Q76M68, Q7T2V3, Q810W7, Q8CGE9, Q8IX03, Q8R0S2, Q8R4H2, Q8WYP3

Diamond homologs: A0A1L8FG46, A0A8C0TYJ0, D3YY23, E7FDW2, F1MAD2, G2Q0E2, O14907, O14910, O35274, O35867, O55164, O60106, O88951, O88952, P31007, P57105, P68907, Q00940, Q05568, Q09506, Q0P5E6, Q0P5F3, Q0V8R5, Q12959, Q13424, Q13425, Q13884, Q1L5Z9, Q22638, Q28626, Q2KHN1, Q2KIB6, Q2TBT8, Q32LM6, Q3T0C9, Q5F425, Q5FWL3, Q5PYH6, Q5R7T5, Q5RAA5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance79
Likely benign8
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
564868GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1Pathogenic

SpliceAI

1559 predictions. Top by Δscore:

VariantEffectΔscore
X:153804896:CCGGG:Cacceptor_gain1.0000
X:153804897:CGGG:Cacceptor_gain1.0000
X:153804897:CGGGC:Cacceptor_gain1.0000
X:153804898:GGG:Gacceptor_gain1.0000
X:153804899:GG:Gacceptor_gain1.0000
X:153804900:GCTA:Gacceptor_loss1.0000
X:153804901:C:CCacceptor_gain1.0000
X:153804907:C:CTacceptor_gain1.0000
X:153804908:A:Tacceptor_gain1.0000
X:153805092:CTCA:Cdonor_loss1.0000
X:153805093:TCA:Tdonor_loss1.0000
X:153805094:CACCT:Cdonor_loss1.0000
X:153805096:C:CGdonor_loss1.0000
X:153805204:CCAG:Cacceptor_gain1.0000
X:153805205:CAG:Cacceptor_gain1.0000
X:153805205:CAGC:Cacceptor_gain1.0000
X:153805208:C:CCacceptor_gain1.0000
X:153805500:CACA:Cdonor_gain1.0000
X:153805501:ACAC:Adonor_loss1.0000
X:153805503:A:ACdonor_gain1.0000
X:153805504:C:CCdonor_gain1.0000
X:153805504:CCTGA:Cdonor_gain1.0000
X:153805551:T:TAdonor_gain1.0000
X:153805602:TTAAT:Tacceptor_gain1.0000
X:153805603:TAAT:Tacceptor_gain1.0000
X:153805604:AAT:Aacceptor_gain1.0000
X:153805605:AT:Aacceptor_gain1.0000
X:153805607:C:CCacceptor_gain1.0000
X:153805613:C:CTacceptor_gain1.0000
X:153805614:A:Tacceptor_gain1.0000

AlphaMissense

5074 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
X:153803621:C:GR681P1.000
X:153803637:A:GW676R1.000
X:153803637:A:TW676R1.000
X:153803645:C:AG673V1.000
X:153803645:C:TG673D1.000
X:153803646:C:GG673R1.000
X:153803650:C:AK671N1.000
X:153803650:C:GK671N1.000
X:153803659:G:CS668R1.000
X:153803659:G:TS668R1.000
X:153803661:T:GS668R1.000
X:153803673:C:GD664H1.000
X:153803694:G:TR657S1.000
X:153803705:A:CI653S1.000
X:153803705:A:GI653T1.000
X:153803705:A:TI653N1.000
X:153803715:C:GA650P1.000
X:153803717:C:GR649P1.000
X:153803718:G:TR649S1.000
X:153803726:A:GL646P1.000
X:153803749:C:AK638N1.000
X:153803749:C:GK638N1.000
X:153803760:A:CY635D1.000
X:153803760:A:GY635H1.000
X:153803768:C:AG632V1.000
X:153803768:C:TG632E1.000
X:153803782:C:AK627N1.000
X:153803782:C:GK627N1.000
X:153803784:T:CK627E1.000
X:153803791:C:AW624C1.000

dbSNP variants (sampled 300 via entrez): RS1000424478 (X:153806194 C>A,T), RS1000643431 (X:153814331 G>A), RS1000796004 (X:153832469 C>G,T), RS1000912027 (X:153832054 G>C), RS1001228823 (X:153822590 C>T), RS1001574116 (X:153826972 C>T), RS1001611843 (X:153802251 G>A), RS1001899833 (X:153818857 G>A), RS1002210109 (X:153803865 G>T), RS1002499614 (X:153820663 C>T), RS1002505147 (X:153804135 C>T), RS1002750563 (X:153821171 C>T), RS1002988887 (X:153808190 G>A), RS1003063808 (X:153807891 G>A,T), RS1003132992 (X:153825304 C>T)

Disease associations

OMIM: gene MIM:300634 | disease phenotypes: MIM:209850

GenCC curated gene-disease

Mondo (4): intellectual disability (MONDO:0001071), microcephaly (MONDO:0001149), movement disorder (MONDO:0005395), autism (MONDO:0005260)

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

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPOTerm
HP:0000252Microcephaly
HP:0000717Autism

GWAS associations

0 associations (top):

MeSH disease descriptors (4)

DescriptorNameTree numbers
D001321Autistic DisorderF03.625.164.113.500
D008607Intellectual DisabilityC10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831MicrocephalyC05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D009069Movement DisordersC10.228.662

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arseniteincreases expression, affects splicing, decreases expression2
Valproic Acidaffects expression, increases methylation2
triphenyl phosphateaffects expression1
propionaldehydeincreases expression1
butyraldehydeincreases expression1
aflatoxin B2decreases methylation1
pentanalincreases expression1
di-n-butylphosphoric acidaffects expression1
ICG 001increases expression1
abrinedecreases expression1
jinfukangaffects cotreatment, increases expression1
(+)-JQ1 compounddecreases expression1
Aldehydesincreases expression1
Benzo(a)pyreneaffects methylation1
Cisplatinaffects cotreatment, increases expression1
Diethylhexyl Phthalatedecreases expression1
Estradiolaffects cotreatment, increases expression1
Tobacco Smoke Pollutiondecreases expression1

Clinical trials (associated diseases)

296 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
NCT01662414PHASE4COMPLETEDEffect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson’s Disease
NCT04871464PHASE4UNKNOWNRole and Mechanism of Probiotics in Improving Motor Symptoms in Mild to Moderate Parkinson’s Disease
NCT06710574PHASE4RECRUITINGMultimodal Image Technologies Investigate the Role and Mechanism of Probiotics in Improving RBD with Parkinson’s Disease
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
NCT01838278PHASE3UNKNOWNEffectiveness of Vojta Therapy in Motor Development of Preterm Children
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
NCT00001929PHASE2COMPLETEDTreatment of Parkinson’s Disease With Eliprodil
NCT00331669PHASE2UNKNOWNEfficacy and Safety of Deep Brain Stimulation (DBS) of the Pallidal (GPi) in Patients With Tardive Dystonia
NCT00406029PHASE2COMPLETEDDyskinesia in Parkinson’s Disease (Study P04501)
NCT00537017PHASE2COMPLETEDFollow Up Safety Study of SCH 420814 in Subjects With Parkinson’s Disease (P05175)
NCT00693472PHASE2TERMINATEDStudy of Preladenant for the Treatment of Neuroleptic Induced Akathisia (Study P05145)
NCT01385592PHASE2COMPLETEDEvaluation of the Efficacy and Safety of AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT01491529PHASE2COMPLETEDEvaluation of the Efficacy and Safety of Modified Release AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT01491932PHASE2COMPLETEDOpen-label, Long-term Safety Extension Study of AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT02500628PHASE2COMPLETEDHeart Rate Variability in Response to Metformin Challenge
NCT04536987PHASE2COMPLETEDRobot Therapy for Rehabilitation of Hand Movement After Stroke
NCT04912115PHASE2SUSPENDEDRandomized, Double-Blind, Active Placebo-Controlled Study of Ketamine to Treat Levodopa-Induced Dyskinesia
NCT05636852PHASE2TERMINATEDAltropane Dose for Imaging Patients With Suspected Parkinson’s Disease
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)
NCT00001663PHASE1COMPLETEDTreatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation
NCT02589340PHASE1TERMINATEDBuspirone, in Combination With Amantadine, for the Treatment of Levodopa-induced Dyskinesia
NCT03065192PHASE1COMPLETEDSafety and Efficacy Study of VY-AADC01 for Advanced Parkinson’s Disease
NCT07232147PHASE1NOT_YET_RECRUITINGClinical Research on Stem Cell Therapy for Parkinson’s Disease
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
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): movement disorder