APOLD1

Summary

APOLD1 (apolipoprotein L domain containing 1, HGNC:25268) is a protein-coding gene on chromosome 12p13.1, encoding Apolipoprotein L domain-containing protein 1 (Q96LR9). Is a modulator of endothelial barrier permeability, required for proper organization of endothelial cell-cell junctions and cytoskeleton.

APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).

Source: NCBI Gene 81575 — RefSeq curated summary.

At a glance

• Gene–disease (curated): bleeding disorder, vascular-type (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 30
• Clinical variants (ClinVar): 73 total — 5 pathogenic
• Phenotypes (HPO): 9
• MANE Select transcript: NM_030817

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25268
Approved symbol	APOLD1
Name	apolipoprotein L domain containing 1
Location	12p13.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25138, DKFZP434F0318
Ensembl gene	ENSG00000178878
Ensembl biotype	protein_coding
OMIM	612456
Entrez	81575

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000326765, ENST00000356591, ENST00000534843, ENST00000540583, ENST00000588943, ENST00000895456

RefSeq mRNA: 2 — MANE Select: NM_030817 NM_001130415, NM_030817

CCDS: CCDS44833, CCDS8654

Canonical transcript exons

ENST00000356591 — 2 exons

Exon	Start	End
ENSE00001745474	12785659	12785694
ENSE00001911208	12786909	12791466

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 99.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3417 / max 576.9283, expressed in 1233 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
124363	49.7166	1815
124360	6.7172	392
124356	1.3830	739
124357	0.6084	290
124358	0.5834	287
206630	0.0281	4
124359	0.0216	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.81	gold quality
pericardium	UBERON:0002407	98.48	gold quality
diaphragm	UBERON:0001103	96.55	gold quality
omental fat pad	UBERON:0010414	95.79	gold quality
peritoneum	UBERON:0002358	95.72	gold quality
lower lobe of lung	UBERON:0008949	95.64	gold quality
adipose tissue of abdominal region	UBERON:0007808	95.20	gold quality
mucosa of urinary bladder	UBERON:0001259	95.18	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.56	gold quality
choroid plexus epithelium	UBERON:0003911	93.51	gold quality
left uterine tube	UBERON:0001303	93.36	gold quality
olfactory bulb	UBERON:0002264	93.33	gold quality
inferior olivary complex	UBERON:0002127	92.94	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	92.65	gold quality
adipose tissue	UBERON:0001013	92.55	gold quality
gall bladder	UBERON:0002110	92.01	gold quality
heart right ventricle	UBERON:0002080	91.98	gold quality
medial globus pallidus	UBERON:0002477	91.78	gold quality
tibialis anterior	UBERON:0001385	91.77	gold quality
connective tissue	UBERON:0002384	91.62	gold quality
left lobe of thyroid gland	UBERON:0001120	91.39	gold quality
thyroid gland	UBERON:0002046	91.22	gold quality
tibial artery	UBERON:0007610	91.17	gold quality
popliteal artery	UBERON:0002250	91.13	gold quality
pleura	UBERON:0000977	90.77	gold quality
mucosa of stomach	UBERON:0001199	90.66	gold quality
pigmented layer of retina	UBERON:0001782	90.64	gold quality
visceral pleura	UBERON:0002401	90.58	gold quality
parietal pleura	UBERON:0002400	90.27	gold quality
smooth muscle tissue	UBERON:0001135	90.07	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-GEOD-84465	yes	736.61
E-GEOD-135922	yes	28.52
E-GEOD-137537	yes	7.40
E-MTAB-10553	yes	6.59
E-GEOD-130148	yes	4.33
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

125 targeting APOLD1, 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-7110-3P	100.00	73.18	2486
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-629-3P	99.85	67.99	1875

Literature-anchored findings (GeneRIF, showing 1)

• APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis. (PMID:35638551)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	apol1	ENSDARG00000007425
danio_rerio	apold1a	ENSDARG00000023185
danio_rerio	apold1b	ENSDARG00000068030
danio_rerio	si:cabz01007807.1	ENSDARG00000089961
mus_musculus	Apold1	ENSMUSG00000090698
rattus_norvegicus	Apold1	ENSRNOG00000007830
caenorhabditis_elegans		WBGENE00017219
caenorhabditis_elegans		WBGENE00017220

Paralogs (6): APOL4 (ENSG00000100336), APOL1 (ENSG00000100342), APOL3 (ENSG00000128284), APOL5 (ENSG00000128313), APOL2 (ENSG00000128335), APOL6 (ENSG00000221963)

Protein

Protein identifiers

Apolipoprotein L domain-containing protein 1 — Q96LR9 (reviewed: Q96LR9)

Alternative names: Vascular early response gene protein

All UniProt accessions (3): A0AVN6, F5GX34, Q96LR9

UniProt curated annotations — full annotation on UniProt →

Function. Is a modulator of endothelial barrier permeability, required for proper organization of endothelial cell-cell junctions and cytoskeleton. It also plays a role in the modulation of secretory autophagy. May affect blood-brain barrier permeability.

Subcellular location. Cell membrane. Cell junction. Cytoplasmic vesicle. Secretory vesicle.

Tissue specificity. Expressed in neonatal dermal microvascular endothelial cells.

Disease relevance. Bleeding disorder, vascular-type (BDVAS) [MIM:620715] An autosomal dominant disorder characterized by increased bleeding tendency, without platelet dysfunction. Affected individuals experience spontaneous episodic bleeding, usually beginning in childhood. Clinical manifestations include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth. The disease may be caused by variants affecting the gene represented in this entry.

Induction. In neonatal dermal microvascular endothelial cells, by hypoxia.

Similarity. Belongs to the apolipoprotein L family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96LR9-1	1	yes
Q96LR9-2	2

RefSeq proteins (2): NP_001123887, NP_110444* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008405	ApoL	Family

Pfam: PF05461

UniProt features (9 total): transmembrane region 3, sequence variant 2, chain 1, coiled-coil region 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LR9-F1	61.17	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 223 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION, AP4_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_EXOCYTOSIS, KMCATNNWGGA_UNKNOWN, GOCC_COATED_VESICLE, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_ENDOTHELIUM_DEVELOPMENT, GOBP_SECRETION

GO Biological Process (6): angiogenesis (GO:0001525), lipid transport (GO:0006869), lipoprotein metabolic process (GO:0042157), regulation of endothelial cell differentiation (GO:0045601), regulation of membrane permeability (GO:0090559), autophagosome-dependent secretion (GO:0160192)

GO Molecular Function (1): lipid binding (GO:0008289)

GO Cellular Component (8): extracellular region (GO:0005576), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), transport vesicle (GO:0030133), Weibel-Palade body (GO:0033093), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
transport	1
lipid localization	1
protein metabolic process	1
regulation of epithelial cell differentiation	1
endothelial cell differentiation	1
regulation of biological quality	1
exocytosis	1
establishment of organelle localization	1
autophagosome localization	1
binding	1
membrane	1
cell periphery	1
anchoring junction	1
endomembrane system	1
cytoplasmic vesicle	1
clathrin-coated vesicle	1
secretory granule	1
cytoplasm	1
intracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

804 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APOLD1	FGF13	Q92913	513
APOLD1	FGF2	P09038	447
APOLD1	GPRC5A	Q8NFJ5	445
APOLD1	SLC35F1	Q5T1Q4	426
APOLD1	ZNF516	Q92618	425
APOLD1	RTL9	Q8NET4	424
APOLD1	SDK2	Q58EX2	418
APOLD1	CDH4	P55283	410
APOLD1	MANSC1	Q9H8J5	393
APOLD1	BICC1	Q9H694	392
APOLD1	SEMA5A	Q13591	375
APOLD1	CREBL2	O60519	373
APOLD1	FAM234B	A2RU67	369
APOLD1	ITGB8	P26012	369
APOLD1	COL4A2	P08572	369

IntAct

0 interactions, top by confidence:

BioGRID (7): APOLD1 (Affinity Capture-MS), APOLD1 (Affinity Capture-MS), APOLD1 (Affinity Capture-MS), APOLD1 (Affinity Capture-RNA), APOLD1 (Affinity Capture-RNA), APOLD1 (Affinity Capture-RNA), APOLD1 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LIF8, A0JN92, A1Z198, A6H5X4, D9I2F9, D9I2G1, D9I2G3, D9I2G4, D9I2H0, G1SRW8, O14791, O95236, P05012, P70499, Q0GKD5, Q19Q52, Q1WBT4, Q28C41, Q2LKU9, Q2LKV2, Q2LKV5, Q2LKW6, Q32KW9, Q3B7D9, Q56XQ0, Q5I0E2, Q5I0J8, Q5NCI0, Q5RFJ8, Q5ZJY9, Q60766, Q6AXZ4, Q6AYC2, Q6AYF9, Q6B959, Q6NTF7, Q6NXR0, Q810S1, Q8BVM9, Q8TCY9

Diamond homologs: Q6B959, Q96LR9, Q9BWW8, O14791, O95236, Q9BQE5, Q9BWW9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	60
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	Pathogenic
2506545	GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	Pathogenic
563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	Pathogenic
57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	Pathogenic
58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	Pathogenic

SpliceAI

1452 predictions. Top by Δscore:

Variant	Effect	Δscore
12:12813428:G:GT	donor_gain	1.0000
12:12813432:A:T	donor_gain	1.0000
12:12813452:CTGGT:C	donor_loss	1.0000
12:12813453:TGG:T	donor_loss	1.0000
12:12813454:GGT:G	donor_loss	1.0000
12:12813455:G:GG	donor_gain	1.0000
12:12813455:G:T	donor_loss	1.0000
12:12813456:T:G	donor_loss	1.0000
12:12814128:A:AG	acceptor_gain	1.0000
12:12814128:AAGG:A	acceptor_gain	1.0000
12:12814129:A:G	acceptor_gain	1.0000
12:12814130:GGGT:G	acceptor_gain	1.0000
12:12814224:GGTA:G	donor_loss	1.0000
12:12821204:TTAG:T	acceptor_loss	1.0000
12:12821207:G:GT	acceptor_loss	1.0000
12:12821392:GAGTG:G	donor_gain	1.0000
12:12821393:AGTGG:A	donor_loss	1.0000
12:12821394:GTG:G	donor_gain	1.0000
12:12821394:GTGGT:G	donor_loss	1.0000
12:12821395:TGGTA:T	donor_loss	1.0000
12:12821396:GGTAA:G	donor_loss	1.0000
12:12821397:G:C	donor_loss	1.0000
12:12821398:T:A	donor_loss	1.0000
12:12821950:A:AG	acceptor_gain	1.0000
12:12821951:A:AG	acceptor_gain	1.0000
12:12821952:C:G	acceptor_gain	1.0000
12:12821959:T:TA	acceptor_gain	1.0000
12:12821960:G:A	acceptor_gain	1.0000
12:12821960:GGTA:G	acceptor_loss	1.0000
12:12821961:GTAGC:G	acceptor_loss	1.0000

AlphaMissense

1565 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:12787134:A:C	S108R	0.989
12:12787136:C:A	S108R	0.989
12:12787136:C:G	S108R	0.989
12:12787195:C:A	A128D	0.975
12:12787102:G:A	G97D	0.968
12:12787123:G:A	G104E	0.964
12:12787122:G:A	G104R	0.963
12:12787122:G:C	G104R	0.963
12:12787182:G:A	G124R	0.962
12:12787182:G:C	G124R	0.962
12:12787114:C:A	A101D	0.955
12:12787183:G:A	G124E	0.955
12:12787171:C:A	A120D	0.954
12:12787177:G:A	G122E	0.954
12:12787081:G:A	G90D	0.953
12:12787189:C:A	A126D	0.952
12:12787092:A:C	S94R	0.951
12:12787094:C:A	S94R	0.951
12:12787094:C:G	S94R	0.951
12:12787176:G:A	G122R	0.949
12:12787176:G:C	G122R	0.949
12:12787198:G:A	G129E	0.946
12:12787510:T:C	L233P	0.945
12:12787207:T:A	V132D	0.944
12:12787111:C:A	A100D	0.941
12:12787204:C:A	A131D	0.937
12:12787194:G:C	A128P	0.935
12:12787117:T:A	I102N	0.931
12:12787101:G:C	G97R	0.930
12:12787522:T:C	L237P	0.926

dbSNP variants (sampled 300 via entrez): RS1000020586 (12:12775704 AT>A,ATT), RS1000040322 (12:12775426 C>A), RS1000055864 (12:12743365 T>G), RS1000068014 (12:12783174 C>G), RS1000072639 (12:12748227 G>A), RS1000118542 (12:12728509 CAA>C,CA,CAAA), RS1000135310 (12:12789385 G>A), RS1000165030 (12:12772815 G>C), RS1000191935 (12:12741143 T>A,C), RS1000237481 (12:12737400 C>G), RS1000241672 (12:12748029 G>A,C), RS1000301977 (12:12734399 C>G), RS1000341934 (12:12787755 G>A,C,T), RS1000421402 (12:12731247 A>G), RS1000451813 (12:12740055 C>G)

Disease associations

OMIM: gene MIM:612456 | disease phenotypes: MIM:620715

GenCC curated gene-disease

Disease	Classification	Inheritance
bleeding disorder, vascular-type	Moderate	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
inherited blood coagulation disorder	Limited	AD

Mondo (3): breast ductal adenocarcinoma (MONDO:0005590), intellectual disability (MONDO:0001071), bleeding disorder, vascular-type (MONDO:0958229)

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

HPO phenotypes

9 total (9 of 9 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000132	Menorrhagia
HP:0000421	Epistaxis
HP:0002239	Gastrointestinal hemorrhage
HP:0006298	Prolonged bleeding after dental extraction
HP:0011463	Childhood onset
HP:0030880	Raynaud phenomenon
HP:0033505	Livedo reticularis
HP:0040184	Oral bleeding

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST004627_141	Lymphocyte count	5.000000e-15
GCST005146_59	Birth weight	2.000000e-08
GCST005997_2	Lymphocyte count	2.000000e-08
GCST006190_48	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	9.000000e-14
GCST006190_86	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	3.000000e-07
GCST006192_35	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	2.000000e-09
GCST006192_69	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	4.000000e-15
GCST006193_31	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	9.000000e-11
GCST006195_13	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	9.000000e-08
GCST006195_62	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	5.000000e-13
GCST006624_116	Systolic blood pressure	1.000000e-19
GCST006979_886	Heel bone mineral density	7.000000e-14
GCST007928_11	Medication use (diuretics)	2.000000e-10
GCST008362_8	Birth weight	4.000000e-12
GCST008839_546	Height	2.000000e-13
GCST008860_2	Prostate cancer	6.000000e-12
GCST009066_25	Mosaic loss of chromosome Y (Y chromosome dosage)	3.000000e-19
GCST009067_20	Mosaic loss of chromosome Y (Y chromosome dosage)	3.000000e-15
GCST010002_209	Refractive error	4.000000e-34
GCST010703_173	Brain morphology (MOSTest)	4.000000e-11
GCST012227_638	Hip circumference adjusted for BMI	1.000000e-08
GCST012490_216	Femur bone mineral density x serum urate levels interaction	2.000000e-09
GCST90002388_425	Lymphocyte count	3.000000e-31
GCST90002389_386	Lymphocyte percentage of white cells	6.000000e-14
GCST90002390_52	Mean corpuscular hemoglobin	4.000000e-09
GCST90002392_374	Mean corpuscular volume	8.000000e-12
GCST90002396_520	Mean reticulocyte volume	8.000000e-13
GCST90002397_420	Mean spheric corpuscular volume	2.000000e-14
GCST90002402_365	Platelet count	4.000000e-14
GCST90002407_278	White blood cell count	9.000000e-15

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004587	lymphocyte count
EFO:0004344	birth weight
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006335	systolic blood pressure
EFO:0009270	heel bone mineral density
EFO:0009928	Diuretic use measurement
EFO:0007783	mosaic loss of chromosome Y measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004531	urate measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004527	mean corpuscular hemoglobin
EFO:0010701	mean reticulocyte volume
EFO:0004309	platelet count

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D008607	Intellectual Disability	C10.597.606.360; 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	4
entinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Tobacco Smoke Pollution	increases expression, decreases expression	2
Triclosan	decreases expression, increases methylation	2
Particulate Matter	increases expression, decreases expression	2
aristolochic acid I	increases expression	1
aminomethylphosphonic acid (AMPA)	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
2-methyl-4-isothiazolin-3-one	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
bisphenol S	increases methylation	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
Temozolomide	increases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants	decreases expression, increases abundance, affects cotreatment	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT02270736	PHASE3	COMPLETED	Clinical 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
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability