ARHGAP23

gene
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Also known as KIAA1501

Summary

ARHGAP23 (Rho GTPase activating protein 23, HGNC:29293) is a protein-coding gene on chromosome 17q12, encoding Rho GTPase-activating protein 23 (Q9P227). GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.

The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).

Source: NCBI Gene 57636 — RefSeq curated summary.

At a glance

  • GWAS associations: 9
  • Clinical variants (ClinVar): 313 total
  • Phenotypes (HPO): 1
  • MANE Select transcript: NM_001199417

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29293
Approved symbolARHGAP23
NameRho GTPase activating protein 23
Location17q12
Locus typegene with protein product
StatusApproved
AliasesKIAA1501
Ensembl geneENSG00000275832
Ensembl biotypeprotein_coding
OMIM610590
Entrez57636

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000614693, ENST00000616767, ENST00000616909, ENST00000617798, ENST00000618325, ENST00000618942, ENST00000619156, ENST00000620325, ENST00000620329, ENST00000620417, ENST00000622683, ENST00000633445

RefSeq mRNA: 1 — MANE Select: NM_001199417 NM_001199417

CCDS: CCDS56027

Canonical transcript exons

ENST00000610551 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.6965 / max 739.2196, expressed in 1472 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter IDTPM avgSamples expressed
16048515.29171382
1604895.98691153
1604885.61801146
1604831.9308346
1604870.6105450
1604840.150773
1604900.060417
1604930.04746

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
sural nerveUBERON:001548897.35gold quality
corpus callosumUBERON:000233697.28gold quality
C1 segment of cervical spinal cordUBERON:000646996.82gold quality
substantia nigraUBERON:000203895.08gold quality
olfactory segment of nasal mucosaUBERON:000538694.68gold quality
skin of legUBERON:000151194.46gold quality
right hemisphere of cerebellumUBERON:001489094.45gold quality
cortical plateUBERON:000534394.42gold quality
Ammon’s hornUBERON:000195494.28gold quality
cerebellumUBERON:000203794.26gold quality
cerebellar cortexUBERON:000212994.22gold quality
cerebellar hemisphereUBERON:000224594.20gold quality
zone of skinUBERON:000001494.18gold quality
esophagus mucosaUBERON:000246994.06gold quality
temporal lobeUBERON:000187193.87gold quality
amygdalaUBERON:000187693.85gold quality
skin of abdomenUBERON:000141693.71gold quality
stromal cell of endometriumCL:000225593.49gold quality
primary visual cortexUBERON:000243693.14gold quality
putamenUBERON:000187492.90gold quality
right frontal lobeUBERON:000281092.90gold quality
anterior cingulate cortexUBERON:000983592.72gold quality
esophagusUBERON:000104392.67gold quality
hypothalamusUBERON:000189892.57gold quality
cerebral cortexUBERON:000095692.50gold quality
frontal cortexUBERON:000187092.47gold quality
placentaUBERON:000198792.40gold quality
Brodmann (1909) area 9UBERON:001354092.38gold quality
popliteal arteryUBERON:000225092.32gold quality
tibial arteryUBERON:000761092.30gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no2.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

81 targeting ARHGAP23, 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-4533100.0069.482758
HSA-MIR-5193100.0067.261744
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-4725-3P99.9669.532520
HSA-MIR-6780B-5P99.9669.602562
HSA-MIR-128-3P99.9571.172484
HSA-MIR-216A-3P99.9571.192505
HSA-MIR-101-3P99.9475.032230
HSA-MIR-144-3P99.9473.982698
HSA-MIR-338-5P99.9272.342951
HSA-MIR-374A-5P99.9071.342923
HSA-MIR-374B-5P99.9069.982734
HSA-MIR-95-5P99.8972.173973
HSA-MIR-430299.8967.941187
HSA-MIR-427199.8868.322244
HSA-MIR-3681-3P99.8870.462254
HSA-MIR-394199.8670.542735
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-444799.8567.812900
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-3150A-3P99.7664.441640
HSA-MIR-6763-5P99.7664.681767
HSA-MIR-6794-5P99.7666.381048
HSA-MIR-3680-3P99.7572.513095
HSA-MIR-149-3P99.7268.223963

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioarhgap23aENSDARG00000052950
mus_musculusArhgap23ENSMUSG00000049807
rattus_norvegicusArhgap23ENSRNOG00000022771
drosophila_melanogasterRhoGAP19DFBGN0031118
caenorhabditis_elegansWBGENE00015418

Paralogs (1): ARHGAP21 (ENSG00000107863)

Protein

Protein identifiers

Rho GTPase-activating protein 23Q9P227 (reviewed: Q9P227)

Alternative names: Rho-type GTPase-activating protein 23

All UniProt accessions (9): Q9P227, A0A087WTU4, A0A087WXU2, A0A087WZ73, A0A087WZZ2, A0A087X0Z0, A0A087X1W6, A0A9L9PXQ2, A0A9L9PXS4

UniProt curated annotations — full annotation on UniProt →

Function. GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.

Tissue specificity. Expressed in placenta, prostate, hippocampus and brain medulla. Also expressed in brain tumor, salivary gland tumor, head and neck tumor.

Isoforms (2)

UniProt IDNamesCanonical?
Q9P227-11yes
Q9P227-22

RefSeq proteins (1): NP_001186346* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000198RhoGAP_domDomain
IPR001478PDZDomain
IPR001849PH_domainDomain
IPR008936Rho_GTPase_activation_protHomologous_superfamily
IPR011993PH-like_dom_sfHomologous_superfamily
IPR036034PDZ_sfHomologous_superfamily
IPR041489PDZ_6Domain
IPR041681PH_9Domain

Pfam: PF00620, PF15410, PF17820

UniProt features (31 total): modified residue 11, region of interest 8, compositionally biased region 4, domain 3, splice variant 2, chain 1, site 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9P227-F149.820.16

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 942 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (12): 361, 372, 423, 517, 583, 611, 623, 656, 659, 662, 677, 854

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-8980692RHOA GTPase cycle
R-HSA-9013149RAC1 GTPase cycle

MSigDB gene sets: 104 (showing top): MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, CERVERA_SDHB_TARGETS_1_UP, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, BOCHKIS_FOXA2_TARGETS, GOMF_ENZYME_ACTIVATOR_ACTIVITY, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, LIU_PROSTATE_CANCER_DN, BAKKER_FOXO3_TARGETS_DN, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, ZWANG_CLASS_1_TRANSIENTLY_INDUCED_BY_EGF, REACTOME_RHO_GTPASE_CYCLE, GSE13522_WT_VS_IFNAR_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN

GO Biological Process (2): signal transduction (GO:0007165), regulation of small GTPase mediated signal transduction (GO:0051056)

GO Molecular Function (2): GTPase activator activity (GO:0005096), protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
RHO GTPase cycle2

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
small GTPase-mediated signal transduction1
regulation of intracellular signal transduction1
GTPase activity1
enzyme activator activity1
GTPase regulator activity1
binding1
cytoplasm1
cellular anatomical structure1
extracellular vesicle1

Protein interactions and networks

STRING

694 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ARHGAP23CCDC85CA6NKD9605
ARHGAP23PRICKLE1Q96MT3592
ARHGAP23CCDC85AQ96PX6576
ARHGAP23ZNF541Q9H0D2528
ARHGAP23CCDC51Q96ER9508
ARHGAP23RASA1P20936497
ARHGAP23SRCIN1Q9C0H9489
ARHGAP23ARHGAP21Q5T5U3470
ARHGAP23PLEK2Q9NYT0468
ARHGAP23PLEKP08567454
ARHGAP23CCDC85BQ15834421
ARHGAP23GPR137CQ8N3F9397
ARHGAP23TCP11L2Q8N4U5387
ARHGAP23SOCS4Q8WXH5379
ARHGAP23SOCS7O14512378

IntAct

43 interactions, top by confidence:

ABTypeScore
CSNK2BNMT2psi-mi:“MI:0914”(association)0.660
ASF1BHAT1psi-mi:“MI:0914”(association)0.640
PNMA2CCDC85Cpsi-mi:“MI:0914”(association)0.530
ZNRD2CCDC85Cpsi-mi:“MI:0914”(association)0.530
YWHABPLEKHG3psi-mi:“MI:0914”(association)0.480
YWHAQPLEKHG3psi-mi:“MI:0914”(association)0.480
ABCC4ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
ARHGEF16ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
ASIC3ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
ATP2B4ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
CYSLTR2ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
DGKKARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
ARHGAP23DGKZpsi-mi:“MI:0407”(direct interaction)0.440
DOCK4ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
FRMPD4ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
FZD7ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
ARHGAP23TAMALINpsi-mi:“MI:0407”(direct interaction)0.440
E6ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
ORF putative E6ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
KCNA5ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
KIR3DL3ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
MAP2K2ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
PBKARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
RALBP1ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
SLC15A5ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
SLCO1C1ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
TJP2ARHGAP23psi-mi:“MI:0407”(direct interaction)0.440
NEK4E2F8psi-mi:“MI:0914”(association)0.350

BioGRID (69): ARHGAP23 (Affinity Capture-MS), ARHGAP23 (Proximity Label-MS), ARHGAP23 (Affinity Capture-MS), ARHGAP23 (Affinity Capture-MS), ARHGAP23 (Affinity Capture-RNA), ARHGAP23 (Proximity Label-MS), ARHGAP23 (Affinity Capture-MS), ARHGAP23 (FRET), ARHGAP23 (FRET), ARHGAP23 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), CTNNA1 (Affinity Capture-MS), FASTKD1 (Affinity Capture-MS), GSPT1 (Affinity Capture-MS), HP1BP3 (Affinity Capture-MS)

ESM2 similar proteins: A1L1I3, A5PKW4, O08919, O70405, O75385, O75420, O75553, P16554, P42128, P49757, P53814, P85037, P97318, P98081, Q04637, Q2LC84, Q3UCQ1, Q4KMP7, Q5DTT2, Q5I1X5, Q5RBR0, Q5VZ18, Q69ZH9, Q69ZI1, Q7TN02, Q7Z6J0, Q80VC9, Q80XI3, Q80Z38, Q86V15, Q8BGT6, Q8BHL3, Q8BSD5, Q8C120, Q8CI12, Q8IY33, Q8K4J6, Q8N3F8, Q8TEH3, Q8TEJ3

Diamond homologs: A0A0G2JTR4, A1A4S6, A2AB59, A2RUV4, A4IF90, A4II46, A6QNS3, A6X8Z5, A7KAX9, A7YY57, A8WRJ2, D3ZFJ3, E7EZG2, E7F3F0, F1LXF1, O14559, O94466, P11274, P15882, P30337, P34288, P38339, P46941, P52757, P55194, P81128, P97393, Q03070, Q08DP6, Q10164, Q12979, Q13017, Q15311, Q17QN0, Q20498, Q2M1Z3, Q3TBD2, Q3UIA2, Q52LW3, Q53QZ3

SIGNOR signaling

2 interactions.

AEffectBMechanism
ARHGAP23“down-regulates activity”RHOA“gtpase-activating protein”
ARHGAP23“down-regulates activity”RAC1“gtpase-activating protein”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 49 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Apoptosis525.4×2e-04
RHOG GTPase cycle522.5×2e-04
Programmed Cell Death522.2×2e-04
CDC42 GTPase cycle613.1×2e-04
RAC1 GTPase cycle59.2×3e-03
Signaling by Rho GTPases66.2×4e-03
Signaling by Rho GTPases, Miro GTPases and RHOBTB366.1×5e-03

GO biological processes:

GO termPartnersFoldFDR
regulation of small GTPase mediated signal transduction516.4×5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance288
Likely benign7
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4545 predictions. Top by Δscore:

VariantEffectΔscore
17:38458261:AAGG:Adonor_loss1.0000
17:38458262:AGG:Adonor_loss1.0000
17:38458264:GT:Gdonor_loss1.0000
17:38458265:T:Gdonor_loss1.0000
17:38463112:CCCCA:Cacceptor_loss1.0000
17:38463113:CCCA:Cacceptor_loss1.0000
17:38463114:CCAG:Cacceptor_loss1.0000
17:38463115:CAG:Cacceptor_loss1.0000
17:38463116:A:AGacceptor_gain1.0000
17:38463117:G:GGacceptor_gain1.0000
17:38463117:GGA:Gacceptor_gain1.0000
17:38463194:TAGGT:Tdonor_loss1.0000
17:38463195:AGGT:Adonor_loss1.0000
17:38463196:GGT:Gdonor_loss1.0000
17:38463197:G:Cdonor_loss1.0000
17:38463197:G:GGdonor_gain1.0000
17:38463325:TAGTG:Tacceptor_loss1.0000
17:38463326:A:AGacceptor_gain1.0000
17:38463326:A:Cacceptor_loss1.0000
17:38463326:AGT:Aacceptor_gain1.0000
17:38463327:G:GTacceptor_gain1.0000
17:38463327:GT:Gacceptor_gain1.0000
17:38463327:GTG:Gacceptor_gain1.0000
17:38463327:GTGAT:Gacceptor_gain1.0000
17:38466160:T:TAacceptor_gain1.0000
17:38467330:TGGT:Tdonor_loss1.0000
17:38467331:GGT:Gdonor_loss1.0000
17:38467332:G:GGdonor_gain1.0000
17:38467332:G:Tdonor_loss1.0000
17:38467333:T:Gdonor_loss1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000003840 (17:38446317 G>A), RS1000035807 (17:38428991 C>T), RS1000119538 (17:38485790 C>T), RS1000131812 (17:38480941 T>C), RS1000176129 (17:38419556 G>A), RS1000228825 (17:38512560 A>C), RS1000242894 (17:38491803 A>G), RS1000300631 (17:38440212 T>C), RS1000328513 (17:38470241 C>T), RS1000395896 (17:38507750 T>G), RS1000418974 (17:38424901 T>C), RS1000433289 (17:38480625 C>A,T), RS1000449980 (17:38423163 C>T), RS1000481215 (17:38437979 A>AG), RS1000508338 (17:38466788 G>A)

Disease associations

OMIM: gene MIM:610590 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): microcephaly (MONDO:0001149)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPOTerm
HP:0000252Microcephaly

GWAS associations

9 associations (top):

StudyTraitp-value
GCST001941_16Ovarian cancer8.000000e-10
GCST004613_62Sum neutrophil eosinophil counts6.000000e-10
GCST004614_58Granulocyte count7.000000e-10
GCST004626_141Myeloid white cell count2.000000e-10
GCST012485_14Cerebral amyloid angiopathy x sex interaction in Alzheimer’s disease1.000000e-05
GCST90002393_519Monocyte count1.000000e-09
GCST90002398_269Neutrophil count1.000000e-11
GCST90002404_161Red cell distribution width1.000000e-12
GCST90002407_130White blood cell count1.000000e-13

EFO canonical traits (6, from GWAS)

EFO IDTrait name
EFO:0004833neutrophil count
EFO:0004842eosinophil count
EFO:0007987granulocyte count
EFO:0008343sex interaction measurement
EFO:0005091monocyte count
EFO:0009188Red cell distribution width

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008831MicrocephalyC05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

55 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Particulate Matterdecreases expression, increases abundance, increases expression, affects cotreatment4
Air Pollutantsaffects cotreatment, decreases expression, increases abundance, increases expression3
Aflatoxin B1decreases methylation, increases expression, affects methylation3
(+)-JQ1 compounddecreases expression2
Arsenicaffects methylation, affects cotreatment, decreases expression, increases abundance2
Benzo(a)pyreneaffects methylation2
Phenylmercuric Acetateincreases expression, affects cotreatment2
aristolochic acid Iincreases expression1
FR900359affects phosphorylation1
TAK-243increases sumoylation1
methylmercuric chlorideincreases expression1
alpha-pineneaffects cotreatment, decreases expression, increases abundance1
pirinixic acidaffects binding, decreases expression, increases activity1
bisphenol Aaffects cotreatment, increases methylation, affects methylation1
testosterone undecanoateaffects cotreatment, increases expression1
cinnamaldehydeincreases expression1
beta-lapachonedecreases expression1
sodium arseniteaffects cotreatment, decreases expression, increases abundance1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
coumarinincreases phosphorylation1
muconaldehydedecreases expression1
methacrylaldehydeaffects cotreatment, decreases expression, increases abundance1
S-(1,2-dichlorovinyl)cysteineincreases expression, affects cotreatment, decreases expression, affects response to substance1
beta-methylcholineaffects expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
erucylphospho-N,N,N-trimethylpropylammoniumdecreases expression1
abrineincreases expression1
dorsomorphinincreases expression, affects cotreatment1
MT19c compounddecreases expression1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinonedecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT05518188PHASE1/PHASE2RECRUITINGMelpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT00001639Not specifiedCOMPLETEDEvaluation of Patients With Unresolved Chromosome Abnormalities
NCT01151462Not specifiedWITHDRAWNPostnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.
NCT01565005Not specifiedCOMPLETEDMicrocephaly Genetic Deficiency in Neural Progenitors
NCT02510170Not specifiedCOMPLETEDFetal and Maternal Head Circumference During Pregnancy in Israeli Population
NCT02741882Not specifiedCOMPLETEDZika and Microcephaly: Case-control Study
NCT02943304Not specifiedCOMPLETEDNeurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
NCT03255369Not specifiedUNKNOWNVertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
NCT03325946Not specifiedRECRUITINGThe FBRI VTC Neuromotor Research Clinic
NCT03330600Not specifiedCOMPLETEDEfficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome
NCT03548779Not specifiedCOMPLETEDNorth Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
NCT03651687Not specifiedCOMPLETEDGuangzhou Surveillance and Clinical Study in Microcephaly (GSCSM)
NCT03922594Not specifiedTERMINATEDSurveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia
NCT04816175Not specifiedCOMPLETEDIntensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay
NCT05322980Not specifiedCOMPLETEDSummary of Infants Weighing 500 Grams or Less
NCT06019182Not specifiedRECRUITINGMEHMO Natural History and Biomarkers
NCT06566066Not specifiedRECRUITINGRegister for Patients With Thyroid Hormone Resistance.
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cerebral amyloid angiopathy