NAALADL2

gene
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Summary

NAALADL2 (N-acetylated alpha-linked acidic dipeptidase like 2, HGNC:23219) is a protein-coding gene on chromosome 3q26.31, encoding Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 (Q58DX5). May be catalytically inactive.

Predicted to act upstream of or within response to bacterium. Located in nucleoplasm.

Source: NCBI Gene 254827 — RefSeq curated summary.

At a glance

  • GWAS associations: 21
  • Clinical variants (ClinVar): 177 total — 1 likely-pathogenic
  • Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
  • MANE Select transcript: NM_207015

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:23219
Approved symbolNAALADL2
NameN-acetylated alpha-linked acidic dipeptidase like 2
Location3q26.31
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000177694
Ensembl biotypeprotein_coding
OMIM608806
Entrez254827

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding_CDS_not_defined, 2 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000414826, ENST00000434257, ENST00000454872, ENST00000473253, ENST00000478624, ENST00000481679, ENST00000482228, ENST00000485853, ENST00000489299, ENST00000489729, ENST00000491329, ENST00000495900

RefSeq mRNA: 1 — MANE Select: NM_207015 NM_207015

CCDS: CCDS46960

Canonical transcript exons

ENST00000454872 — 14 exons

ExonStartEnd
ENSE00001431711175737306175737399
ENSE00001434155175755220175755418
ENSE00001694236174859334174859450
ENSE00003466642175324175175324325
ENSE00003472529175471639175471758
ENSE00003513222175576041175576187
ENSE00003534674175627291175627386
ENSE00003539606175256411175256530
ENSE00003582619175233931175234204
ENSE00003618219175466979175467184
ENSE00003634427175096790175097291
ENSE00003660982175463401175463493
ENSE00003674142175447229175447372
ENSE00003767036175803005175810548

Expression profiles

Bgee: expression breadth ubiquitous, 183 present calls, max score 93.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4573 / max 152.7241, expressed in 1375 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
398704.24311310
398731.0923206
398690.6438380
398750.3963127
398740.081847

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370193.87gold quality
colonic epitheliumUBERON:000039782.32gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099181.87gold quality
sural nerveUBERON:001548879.98gold quality
tendonUBERON:000004379.66gold quality
gall bladderUBERON:000211079.42gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047379.10gold quality
stromal cell of endometriumCL:000225578.84gold quality
ventricular zoneUBERON:000305377.50gold quality
smooth muscle tissueUBERON:000113576.69gold quality
adrenal tissueUBERON:001830376.04gold quality
popliteal arteryUBERON:000225075.67gold quality
tibial arteryUBERON:000761075.64gold quality
descending thoracic aortaUBERON:000234575.63gold quality
aortaUBERON:000094775.07gold quality
olfactory segment of nasal mucosaUBERON:000538674.95gold quality
left testisUBERON:000453374.84gold quality
right testisUBERON:000453474.67gold quality
thoracic aortaUBERON:000151574.66gold quality
ascending aortaUBERON:000149674.61gold quality
rectumUBERON:000105274.51gold quality
tibial nerveUBERON:000132374.15gold quality
ganglionic eminenceUBERON:000402374.08gold quality
minor salivary glandUBERON:000183073.95gold quality
right coronary arteryUBERON:000162573.94gold quality
islet of LangerhansUBERON:000000673.92gold quality
testisUBERON:000047373.55gold quality
endocervixUBERON:000045872.96gold quality
saliva-secreting glandUBERON:000104472.95gold quality
hindlimb stylopod muscleUBERON:000425272.90gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

ExperimentMarker?Max mean expression
E-ANND-2yes2415.07
E-CURD-119yes43.10
E-HCAD-10yes18.27
E-ANND-3yes8.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

224 targeting NAALADL2, 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-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-5692A100.0074.406850
HSA-MIR-3163100.0077.238605
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-548AW99.9972.573559
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-428299.9975.366408
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-318599.9968.121959
HSA-MIR-33A-5P99.9968.621055
HSA-MIR-33B-5P99.9968.581062
HSA-MIR-366299.9973.825684
HSA-MIR-1213699.9872.815713
HSA-MIR-569699.9872.364487
HSA-MIR-19A-3P99.9875.332762
HSA-MIR-19B-3P99.9875.442754
HSA-MIR-548N99.9871.944170
HSA-MIR-480399.9871.993117
HSA-MIR-3692-3P99.9870.272139
HSA-MIR-60799.9773.625593
HSA-MIR-314899.9775.066478
HSA-MIR-548AA99.9670.643753

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 2)

  • Data suggest that changes in expression of N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 (NAALADL2) can impact upon a number of pro-oncogenic pathways and processes, making it a useful biomarker for both diagnosis and prognosis. (PMID:24240687)
  • GWAS showed intestinal Behcet’s disease-specific associations with YIPF7 gene locus rs6838327. Down-regulation of YIPF7 expression was associated with exacerbating intestinal inflammatory responses both in vitro and in vivo. (PMID:28045058)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusNaaladl2ENSMUSG00000102758
rattus_norvegicusNaaladl2ENSRNOG00000065021

Paralogs (5): TFRC (ENSG00000072274), NAALAD2 (ENSG00000077616), FOLH1 (ENSG00000086205), TFR2 (ENSG00000106327), NAALADL1 (ENSG00000168060)

Protein

Protein identifiers

Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2Q58DX5 (reviewed: Q58DX5)

All UniProt accessions (3): Q58DX5, C9JQ86, Q6H9J7

UniProt curated annotations — full annotation on UniProt →

Function. May be catalytically inactive.

Subcellular location. Membrane.

Tissue specificity. Expressed at higher level in kidney and placenta. In embryo, it is mainly confined to duodenal and stomach endoderm, mesonephros, metanephros and pancreas.

Miscellaneous. The gene maps to 3q26.31, a region associated with Cornelia de Lange syndrome. However, PubMed:15168106 failed to identify specific mutations in a panel of DNA samples from patients with Cornelia de Lange syndrome.

Similarity. Belongs to the peptidase M28 family. M28B subfamily.

Isoforms (2)

UniProt IDNamesCanonical?
Q58DX5-11yes
Q58DX5-22

RefSeq proteins (1): NP_996898* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR007484Peptidase_M28Domain
IPR036757TFR-like_dimer_dom_sfHomologous_superfamily
IPR039373Peptidase_M28BFamily
IPR046450PA_dom_sfHomologous_superfamily

Pfam: PF04389

UniProt features (19 total): sequence variant 6, glycosylation site 4, splice variant 3, topological domain 2, chain 1, transmembrane region 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q58DX5-F178.780.51

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): 92

Glycosylation sites (4): 295, 373, 534, 759

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 128 (showing top): chr3q26, NKX62_Q2, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, IRF_Q6, TATA_C, HNF1_C, FREAC4_01, RYTTCCTG_ETS2_B, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, XU_GH1_AUTOCRINE_TARGETS_DN, ATGTTTC_MIR494, TGGAAA_NFAT_Q4_01, TAATTA_CHX10_01, GOBP_RESPONSE_TO_BACTERIUM, STAMBOLSKY_RESPONSE_TO_VITAMIN_D3_DN

GO Biological Process (1): response to bacterium (GO:0009617)

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

GO Cellular Component (2): nucleoplasm (GO:0005654), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
response to other organism1
binding1
nuclear lumen1

Protein interactions and networks

STRING

894 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
NAALADL2NIPBLQ6KC79716
NAALADL2SMC1AQ14683640
NAALADL2PAPPAQ13219588
NAALADL2SMC3Q9UQE7587
NAALADL2CDH13P55290569
NAALADL2LNX1Q8TBB1558
NAALADL2TCP1P17987542
NAALADL2TAFA2Q8N3H0525
NAALADL2ZFHX3Q15911525
NAALADL2ITPKCQ96DU7494
NAALADL2CSMD1Q96PZ7472
NAALADL2KBTBD12Q3ZCT8465
NAALADL2PPP1R14CQ8TAE6464
NAALADL2YIPF7Q8N8F6461
NAALADL2TMEM117Q9H0C3460

IntAct

20 interactions, top by confidence:

ABTypeScore
NAALADL2GPR25psi-mi:“MI:0915”(physical association)0.560
GRM2NAALADL2psi-mi:“MI:0915”(physical association)0.560
NAALADL2LAPTM4Bpsi-mi:“MI:0915”(physical association)0.560
SLC30A3NAALADL2psi-mi:“MI:0915”(physical association)0.560
ITM2BNAALADL2psi-mi:“MI:0915”(physical association)0.560
NAALADL2GRM2psi-mi:“MI:0915”(physical association)0.560
NAALADL2SLC30A3psi-mi:“MI:0915”(physical association)0.560
GPR25NAALADL2psi-mi:“MI:0915”(physical association)0.560
NAALADL2ITM2Bpsi-mi:“MI:0915”(physical association)0.560
NAALADL2psi-mi:“MI:0915”(physical association)0.370
CUL3PXDNLpsi-mi:“MI:0914”(association)0.350
Ppsi-mi:“MI:0914”(association)0.350
NAALADL2IGSF3psi-mi:“MI:0914”(association)0.350

BioGRID (34): NAALADL2 (Two-hybrid), NAALADL2 (Two-hybrid), NAALADL2 (Two-hybrid), NAALADL2 (Two-hybrid), NAALADL2 (Two-hybrid), SCAP (Affinity Capture-MS), KLC2 (Affinity Capture-MS), NAALAD2 (Affinity Capture-MS), KCTD17 (Affinity Capture-MS), IGSF3 (Affinity Capture-MS), ERBB2 (Affinity Capture-MS), KCNJ8 (Affinity Capture-MS), CELSR2 (Affinity Capture-MS), SCARB2 (Affinity Capture-MS), HLA-DRB1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S4FGH1, A0A7H0DN13, A4KX74, A4KX75, A8WQV9, G5EBL2, G5EBY8, G5ED05, G5ED65, G5EGA9, H2KZ72, H2KZM6, H2KZU7, I1FQB6, O14138, O45201, O45879, P12393, P13731, P16708, P18384, P18475, P20532, P21814, P33831, P34751, P41361, P46201, P46202, P46557, P54631, Q09219, Q09245, Q09271, Q0E8C8, Q17405, Q17678, Q18143, Q2KJH6, Q58DX5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance140
Likely benign11
Benign1

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
694264GRCh37/hg19 3q26.31-26.32(chr3:175507453-177095072)Likely pathogenic

SpliceAI

1644 predictions. Top by Δscore:

VariantEffectΔscore
3:175077860:G:GTdonor_gain1.0000
3:175096785:CACAG:Cacceptor_loss1.0000
3:175096788:AGG:Aacceptor_loss1.0000
3:174963576:T:Gacceptor_gain0.9900
3:175053540:TTTC:Tdonor_gain0.9900
3:175077889:A:Tdonor_gain0.9900
3:175096788:A:AGacceptor_gain0.9900
3:175096788:AG:Aacceptor_gain0.9900
3:175096789:G:GAacceptor_gain0.9900
3:175096789:GG:Gacceptor_gain0.9900
3:175096789:GGT:Gacceptor_gain0.9900
3:175096789:GGTA:Gacceptor_gain0.9900
3:175096789:GGTAA:Gacceptor_gain0.9900
3:175077906:G:GTdonor_gain0.9800
3:175096780:A:AGacceptor_gain0.9800
3:175096786:A:AGacceptor_gain0.9800
3:175096786:ACAG:Aacceptor_gain0.9800
3:175096787:C:Gacceptor_gain0.9800
3:175097287:TTCAG:Tdonor_loss0.9700
3:175097288:TCAGG:Tdonor_loss0.9700
3:175097290:AGGTA:Adonor_loss0.9700
3:175097291:GGTA:Gdonor_loss0.9700
3:175097292:GTAG:Gdonor_loss0.9700
3:175097293:T:Adonor_loss0.9700
3:175053534:A:Gdonor_gain0.9600
3:175053541:TTCA:Tdonor_gain0.9500
3:175029304:AG:Adonor_gain0.9400
3:175096781:T:Gacceptor_gain0.9400
3:174919491:TTC:Tdonor_gain0.9300
3:174951063:A:AGdonor_gain0.9300

AlphaMissense

5238 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
3:175467117:G:CR489P0.994
3:175233995:T:AW204R0.988
3:175233995:T:CW204R0.988
3:175256493:C:AA301E0.984
3:175471739:T:CL545P0.984
3:175467137:T:AW496R0.983
3:175467137:T:CW496R0.983
3:175755364:T:CL712P0.983
3:175755352:T:CL708P0.979
3:175755356:T:AN709K0.979
3:175755356:T:GN709K0.979
3:175755265:T:CL679P0.978
3:175256502:A:TK304I0.977
3:175466982:G:CR444P0.976
3:175463467:G:AG434E0.972
3:175466999:A:CS450R0.972
3:175467001:C:AS450R0.972
3:175467001:C:GS450R0.972
3:175256503:A:CK304N0.971
3:175256503:A:TK304N0.971
3:175324199:T:CF322L0.968
3:175324201:T:AF322L0.968
3:175324201:T:GF322L0.968
3:175467176:T:AW509R0.967
3:175467176:T:CW509R0.967
3:175755355:A:TN709I0.967
3:175097035:T:CF97L0.966
3:175097037:C:AF97L0.966
3:175097037:C:GF97L0.966
3:175256499:T:CL303P0.966

dbSNP variants (sampled 300 via entrez): RS1000000179 (3:175402745 C>G,T), RS1000000785 (3:175470378 A>G), RS1000001543 (3:175218883 G>A), RS1000002864 (3:175627751 A>G,T), RS1000004025 (3:175239786 G>A,T), RS1000007970 (3:175787235 TC>T), RS1000016058 (3:174786400 G>A), RS1000018631 (3:174844152 C>T), RS1000030402 (3:175011618 C>G,T), RS1000032223 (3:174734987 C>G,T), RS1000032672 (3:175432948 T>C), RS1000033329 (3:175220228 G>A), RS1000035233 (3:174460142 A>C), RS1000035695 (3:175312914 G>A), RS1000035935 (3:175470645 G>A)

Disease associations

OMIM: gene MIM:608806 | 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

21 associations (top):

StudyTraitp-value
GCST000314_2Kawasaki disease1.000000e-06
GCST000996_23Systemic lupus erythematosus8.000000e-06
GCST001822_5Metabolite levels (MHPG)1.000000e-06
GCST001885_8Height8.000000e-06
GCST002053_4Sleep duration3.000000e-06
GCST002886_2Prostate cancer aggressiveness4.000000e-08
GCST003126_1Influenza A (H1N1) severity6.000000e-07
GCST003130_1Autism spectrum disorder4.000000e-06
GCST003771_10Loneliness4.000000e-06
GCST004370_2Deep ovarian and/or rectovaginal disease with dense adhesions1.000000e-07
GCST005439_3Response to alcohol consumption (flushing response)4.000000e-06
GCST006087_20Familial lung adenocarcinoma3.000000e-06
GCST007326_52Number of sexual partners2.000000e-09
GCST007393_2Mitochondrial DNA copy number2.000000e-08
GCST007473_13Rapid automatized naming of pictures2.000000e-06
GCST007673_33-month functional outcome in ischaemic stroke (modified Rankin score)3.000000e-07
GCST009550_2Priapism in sickle cell disease3.000000e-08
GCST010172_2Idiopathic downbeat nystagmus9.000000e-06
GCST010923_12Beta blocker survival benefit in heart failure with reduced ejection fraction (time to all cause mortality x beta blocker interaction)9.000000e-06
GCST011742_45Triglyceride levels in HIV infection3.000000e-06
GCST012490_93Femur bone mineral density x serum urate levels interaction4.000000e-10

EFO canonical traits (13, from GWAS)

EFO IDTrait name
EFO:0005133MHPG measurement
EFO:0006999cancer aggressiveness measurement
EFO:0007000Gleason score measurement
EFO:0007743influenza A severity measurement
EFO:0007865loneliness measurement
EFO:0006953family history of lung cancer
EFO:0006312mitochondrial DNA measurement
EFO:0005301reading and spelling ability
EFO:0009603stroke outcome severity measurement
EFO:0004352mortality
EFO:0007766response to beta blocker
EFO:0004530triglyceride measurement
EFO:0004531urate measurement

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

15 total (human), top 15 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases expression3
Aflatoxin B1decreases expression, decreases methylation3
lasiocarpinedecreases expression2
methyleugenoldecreases expression2
N-Nitrosopyrrolidinedecreases expression2
Tobacco Smoke Pollutiondecreases methylation, affects expression2
Valproic Acidincreases methylation2
aristolochic acid Idecreases expression1
aflatoxin B2increases methylation1
rofecoxibdecreases expression1
(+)-JQ1 compounddecreases expression1
Resveratrolaffects cotreatment, decreases expression1
Phthalic Acidsincreases methylation1
Plant Extractsaffects cotreatment, decreases expression1
Palmitic 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
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  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): endometriosis, Kawasaki disease