BOD1

Summary

BOD1 (biorientation of chromosomes in cell division 1, HGNC:25114) is a protein-coding gene on chromosome 5q35.2, encoding Biorientation of chromosomes in cell division protein 1 (Q96IK1). Required for proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles.

Enables protein phosphatase 2A binding activity and protein phosphatase inhibitor activity. Involved in mitotic sister chromatid biorientation; mitotic sister chromatid cohesion, centromeric; and protein localization to chromosome, centromeric region. Located in centrosome; spindle microtubule; and spindle pole. Part of Set1C/COMPASS complex and outer kinetochore.

Source: NCBI Gene 91272 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 11
• Clinical variants (ClinVar): 47 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_138369

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25114
Approved symbol	BOD1
Name	biorientation of chromosomes in cell division 1
Location	5q35.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000145919
Ensembl biotype	protein_coding
OMIM	616745
Entrez	91272

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000285908, ENST00000311086, ENST00000462674, ENST00000471339, ENST00000477985, ENST00000480951, ENST00000518658, ENST00000857673, ENST00000918841

RefSeq mRNA: 2 — MANE Select: NM_138369 NM_001159651, NM_138369

CCDS: CCDS4389, CCDS54951

Canonical transcript exons

ENST00000311086 — 4 exons

Exon	Start	End
ENSE00001319327	173609238	173609434
ENSE00001933598	173607145	173608292
ENSE00001952492	173616200	173616650
ENSE00003484783	173613131	173613255

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 99.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.9683 / max 367.6164, expressed in 1813 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
64964	52.9683	1813

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	99.98	gold quality
secondary oocyte	CL:0000655	99.92	gold quality
ventricular zone	UBERON:0003053	97.67	gold quality
ganglionic eminence	UBERON:0004023	97.46	gold quality
embryo	UBERON:0000922	97.45	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.94	silver quality
cartilage tissue	UBERON:0002418	96.68	gold quality
cortical plate	UBERON:0005343	96.55	gold quality
gastrocnemius	UBERON:0001388	96.53	gold quality
left ventricle myocardium	UBERON:0006566	96.53	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.50	gold quality
upper arm skin	UBERON:0004263	96.42	gold quality
tibia	UBERON:0000979	96.40	gold quality
kidney epithelium	UBERON:0004819	96.39	silver quality
muscle of leg	UBERON:0001383	96.34	gold quality
left lobe of thyroid gland	UBERON:0001120	96.27	gold quality
quadriceps femoris	UBERON:0001377	96.24	gold quality
adrenal tissue	UBERON:0018303	96.19	gold quality
right lobe of thyroid gland	UBERON:0001119	96.10	gold quality
thyroid gland	UBERON:0002046	96.10	gold quality
body of pancreas	UBERON:0001150	96.09	gold quality
myocardium	UBERON:0002349	96.05	silver quality
vastus lateralis	UBERON:0001379	95.99	gold quality
stromal cell of endometrium	CL:0002255	95.88	gold quality
deltoid	UBERON:0001476	95.87	gold quality
left ovary	UBERON:0002119	95.86	gold quality
skeletal muscle tissue	UBERON:0001134	95.72	gold quality
tibialis anterior	UBERON:0001385	95.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	95.66	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

60 targeting BOD1, 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-6873-3P	100.00	71.42	2626
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-142-3P	99.62	71.30	974
HSA-MIR-6073	99.60	70.36	793
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-5697	99.39	67.74	1249
HSA-MIR-4797-5P	99.39	68.01	1354

Literature-anchored findings (GeneRIF, showing 8)

• Bod1 is a novel kinetochore protein that is required for the detection or resolution of syntelic attachments in mitotic spindles. (PMID:17938248)
• siRNA depeletion of Fam44B (named Bod1 - Biorientation Defective 1 in this publication) resulted in persistent chromosome congression defects in metaphase. (PMID:17938248)
• Bod1 regulates protein phosphatase 2A at mitotic kinetochores. (PMID:24157919)
• we established two Drosophila models, where neuron-specific knockdown of BOD1 caused pronounced learning deficits and significant abnormalities in synapse morphology. Together our results reveal novel postmitotic functions of BOD1 as well as pathogenic mechanisms that strongly support a causative role of BOD1 deficiency in the aetiology of intellectual disability. (PMID:27166630)
• these results suggest that radiation alters miR-142-3p and Bod1 expression in carcinoma cells, and thus contributes to early stages of radiation-induced genomic instability (PMID:27527863)
• Kinetochore targeting of Bod1 depends on Ndc80 and not PP2A-B56. Bod1 depletion functionally affects Ndc80 phosphorylation at S55. (PMID:29142109)
• A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability. (PMID:32578875)
• MiR-142-3p ameliorates high glucose-induced renal tubular epithelial cell injury by targeting BOD1. (PMID:34145485)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Bod1	ENSMUSG00000044502
rattus_norvegicus	Bod1	ENSRNOG00000020717

Paralogs (2): BOD1L1 (ENSG00000038219), BOD1L2 (ENSG00000228075)

Protein

Protein identifiers

Biorientation of chromosomes in cell division protein 1 — Q96IK1 (reviewed: Q96IK1)

Alternative names: Biorientation defective protein 1, Protein FAM44B

All UniProt accessions (4): C9J8U9, C9JNZ5, Q96IK1, H7C5I4

UniProt curated annotations — full annotation on UniProt →

Function. Required for proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles.

Subunit / interactions. Component of the SET1B complex composed of the catalytic subunit SETD1B, WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1, DPY30 homotrimer and BOD1.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Chromosome. Centromere. Kinetochore.

Similarity. Belongs to the BOD1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96IK1-1	1	yes
Q96IK1-2	2

RefSeq proteins (2): NP_001153123, NP_612378* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR043244	BOD1L1	Family
IPR055264	BOD1/SHG1_dom	Domain

Pfam: PF05205

UniProt features (8 total): compositionally biased region 3, region of interest 2, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96IK1-F1	77.06	0.44

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9772755	Formation of WDR5-containing histone-modifying complexes
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-74160	Gene expression (Transcription)
R-HSA-9917777	Epigenetic regulation by WDR5-containing histone modifying complexes

MSigDB gene sets: 153 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_CHROMOSOME_ORGANIZATION, GOBP_ATTACHMENT_OF_SPINDLE_MICROTUBULES_TO_KINETOCHORE, GOBP_CHROMOSOME_LOCALIZATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, MODULE_205, GOBP_ORGANELLE_FISSION, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME_CENTROMERIC_REGION, GOBP_SISTER_CHROMATID_COHESION, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME, GOCC_CENTROSOME, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_MITOTIC_CELL_CYCLE, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE

GO Biological Process (5): mitotic metaphase chromosome alignment (GO:0007080), cell division (GO:0051301), protein localization to chromosome, centromeric region (GO:0071459), mitotic sister chromatid cohesion, centromeric (GO:0071962), mitotic sister chromatid biorientation (GO:1990758)

GO Molecular Function (3): protein phosphatase inhibitor activity (GO:0004864), protein phosphatase 2A binding (GO:0051721), protein binding (GO:0005515)

GO Cellular Component (11): spindle pole (GO:0000922), outer kinetochore (GO:0000940), nucleoplasm (GO:0005654), centrosome (GO:0005813), spindle microtubule (GO:0005876), Set1C/COMPASS complex (GO:0048188), chromosome, centromeric region (GO:0000775), kinetochore (GO:0000776), chromosome (GO:0005694), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Epigenetic regulation by WDR5-containing histone modifying complexes	1
Gene expression (Transcription)	1
Epigenetic regulation of gene expression	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular membraneless organelle	3
mitotic cell cycle	2
spindle	2
mitotic sister chromatid segregation	1
metaphase chromosome alignment	1
mitotic cell cycle process	1
cellular process	1
protein localization to chromosome	1
mitotic sister chromatid cohesion	1
centromeric sister chromatid cohesion	1
sister chromatid biorientation	1
microtubule plus-end binding	1
attachment of mitotic spindle microtubules to kinetochore	1
phosphoprotein phosphatase activity	1
phosphatase inhibitor activity	1
protein phosphatase regulator activity	1
protein phosphatase binding	1
binding	1
kinetochore	1
protein-containing complex	1
nuclear lumen	1
centriole	1
microtubule organizing center	1
microtubule	1
histone methyltransferase complex	1
chromosomal region	1
condensed chromosome, centromeric region	1
supramolecular complex	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

888 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BOD1	SETD1B	Q9UPS6	671
BOD1	DPY30	Q9C005	547
BOD1	WDR82	Q6UXN9	533
BOD1	CXXC1	Q9P0U4	519
BOD1	ENSA	O43768	513
BOD1	RBBP5	Q15291	511
BOD1	ASH2L	Q9UBL3	477
BOD1	HADHA	P40939	473
BOD1	ARPP19	P56211	453
BOD1	WDR5	P61964	390
BOD1	PPP2R5B	Q15173	373
BOD1	PPP2R5D	Q14738	371
BOD1	SETD1A	O15047	369
BOD1	TTC29	Q8NA56	353
BOD1	PPP2R5A	Q15172	350

IntAct

31 interactions, top by confidence:

A	B	Type	Score
WDR5	KMT2D	psi-mi:“MI:0914”(association)	0.910
ASH2L	KMT2D	psi-mi:“MI:0914”(association)	0.890
RBBP5	KMT2D	psi-mi:“MI:0914”(association)	0.840
CXXC1	SETD1A	psi-mi:“MI:0914”(association)	0.760
CAMKV	AP3B1	psi-mi:“MI:0914”(association)	0.640
BOD1	WDTC1	psi-mi:“MI:0915”(physical association)	0.620
BOD1	PLXDC2	psi-mi:“MI:0914”(association)	0.530
LRRTM4	AP3B1	psi-mi:“MI:0914”(association)	0.530
CXXC1	HCFC1	psi-mi:“MI:0914”(association)	0.350
Cxxc1	HCFC1	psi-mi:“MI:0914”(association)	0.350
LYPD3	CLASP2	psi-mi:“MI:0914”(association)	0.350
WDR5	KDM6A	psi-mi:“MI:0914”(association)	0.350
CXXC1	SETD1A	psi-mi:“MI:0914”(association)	0.350
BOD1	BPGM	psi-mi:“MI:0914”(association)	0.350
SYT2	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
S100P	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
S100A6	VWA8	psi-mi:“MI:0914”(association)	0.350
CYB5B	QSOX1	psi-mi:“MI:0914”(association)	0.350
LYPD3	TNPO2	psi-mi:“MI:0914”(association)	0.350
SPX	ERI3	psi-mi:“MI:0914”(association)	0.350
BOD1L2	BPGM	psi-mi:“MI:0914”(association)	0.350
BTK	BLTP3B	psi-mi:“MI:0914”(association)	0.350
SYT1	AP3B1	psi-mi:“MI:0914”(association)	0.350
WDR5	ZNF609	psi-mi:“MI:0914”(association)	0.350
MDC1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (54): BOD1 (Affinity Capture-RNA), BOD1 (Affinity Capture-RNA), BOD1 (Affinity Capture-MS), BOD1 (Affinity Capture-MS), BOD1L2 (Affinity Capture-MS), MSL3 (Affinity Capture-MS), DCP1B (Affinity Capture-MS), FMN2 (Affinity Capture-MS), BOD1 (Affinity Capture-MS), BOD1 (Affinity Capture-MS), BOD1L2 (Affinity Capture-MS), BOD1 (Affinity Capture-MS), MSL3 (Affinity Capture-MS), BOD1 (Affinity Capture-MS), BOD1 (Affinity Capture-MS)

ESM2 similar proteins: A4IGK3, B7ZAP0, O08609, O54941, O55047, O60519, P18847, P26801, P28574, P29596, P37285, P52161, P52162, P52164, P60762, P61244, P61245, P97875, Q07016, Q07866, Q08CW1, Q08DJ0, Q0VCP9, Q0VD32, Q13330, Q28772, Q2KII1, Q32KT0, Q32M00, Q3T0B9, Q56A18, Q5BJU6, Q5R581, Q5ZIL4, Q60765, Q62599, Q642H2, Q6PH81, Q78E65, Q7TMY4

Diamond homologs: E9Q6J5, Q5SQY2, Q68FB1, Q6AYJ2, Q6DFL2, Q8IYS8, Q8NFC6, Q96IK1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 35 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:

Pathway	Partners	Fold	FDR
Formation of WDR5-containing histone-modifying complexes	8	88.5×	2e-12
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	5	41.0×	6e-06
PKMTs methylate histone lysines	5	33.5×	1e-05
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	5	25.0×	4e-05
Activation of anterior HOX genes in hindbrain development during early embryogenesis	5	19.0×	1e-04
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis	5	17.2×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	27
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1698073	NM_138369.3(BOD1):c.334C>T (p.Arg112Ter)	Pathogenic
3900237	NM_138369.3(BOD1):c.451C>T (p.Arg151Ter)	Likely pathogenic

SpliceAI

844 predictions. Top by Δscore:

Variant	Effect	Δscore
5:173613129:A:AC	donor_gain	1.0000
5:173613130:C:CC	donor_gain	1.0000
5:173613130:CTGAA:C	donor_gain	1.0000
5:173616195:GCTAC:G	donor_loss	1.0000
5:173616196:CTACC:C	donor_loss	1.0000
5:173616197:TACC:T	donor_loss	1.0000
5:173608291:TT:T	acceptor_gain	0.9900
5:173608291:TTC:T	acceptor_loss	0.9900
5:173608292:TC:T	acceptor_loss	0.9900
5:173608293:C:CC	acceptor_gain	0.9900
5:173608293:CTA:C	acceptor_loss	0.9900
5:173608294:T:G	acceptor_loss	0.9900
5:173609209:ACT:A	donor_gain	0.9900
5:173609210:CTC:C	donor_gain	0.9900
5:173609436:T:C	acceptor_gain	0.9900
5:173613125:A:AC	donor_gain	0.9900
5:173613126:C:CC	donor_gain	0.9900
5:173613126:CTTA:C	donor_gain	0.9900
5:173613252:CTGG:C	acceptor_gain	0.9900
5:173608288:GTATT:G	acceptor_gain	0.9800
5:173608289:TATT:T	acceptor_gain	0.9800
5:173609209:A:AC	donor_gain	0.9800
5:173609210:C:CC	donor_gain	0.9800
5:173609212:CCTGG:C	donor_gain	0.9800
5:173609249:T:TA	donor_gain	0.9800
5:173609436:T:TC	acceptor_gain	0.9800
5:173613256:C:CC	acceptor_gain	0.9800
5:173608591:T:C	donor_gain	0.9700
5:173609212:C:CA	donor_gain	0.9700
5:173609434:CCT:C	acceptor_gain	0.9700

AlphaMissense

1199 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:173609393:T:G	Q135P	1.000
5:173609402:A:C	I132S	1.000
5:173609402:A:G	I132T	1.000
5:173609402:A:T	I132N	1.000
5:173609414:C:T	G128E	1.000
5:173609415:C:G	G128R	1.000
5:173609415:C:T	G128R	1.000
5:173613145:C:A	R116S	1.000
5:173613145:C:G	R116S	1.000
5:173613146:C:A	R116M	1.000
5:173613146:C:G	R116T	1.000
5:173613169:T:A	K108N	1.000
5:173613169:T:G	K108N	1.000
5:173613170:T:A	K108I	1.000
5:173613187:C:A	W102C	1.000
5:173613187:C:G	W102C	1.000
5:173613189:A:G	W102R	1.000
5:173613189:A:T	W102R	1.000
5:173613203:A:G	L97P	1.000
5:173613239:A:G	L85P	1.000
5:173613249:A:C	Y82D	1.000
5:173613249:A:G	Y82H	1.000
5:173613251:G:T	A81D	1.000
5:173616200:C:A	K79N	1.000
5:173616200:C:G	K79N	1.000
5:173616207:T:A	D77V	1.000
5:173616208:C:G	D77H	1.000
5:173616214:C:G	D75H	1.000
5:173616223:A:G	C72R	1.000
5:173616232:G:T	R69S	1.000

dbSNP variants (sampled 300 via entrez): RS1000887395 (5:173611486 T>A), RS1001315661 (5:173615673 C>T), RS1001491903 (5:173615752 G>A), RS1001819665 (5:173616041 G>A,C), RS1001920017 (5:173610567 C>G), RS1002125680 (5:173614490 A>G), RS1002283091 (5:173609902 G>A,T), RS1002585734 (5:173607416 T>A,C), RS1002954287 (5:173612614 A>C), RS1003231237 (5:173613399 G>A), RS1003291244 (5:173611213 T>C), RS1003318976 (5:173610836 G>A,C), RS1004193019 (5:173606856 A>G), RS1004226224 (5:173613429 C>A,G,T), RS1004238386 (5:173616888 C>T)

Disease associations

OMIM: gene MIM:616745 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability	Limited	Autosomal recessive
syndromic intellectual disability	Limited	Autosomal recessive

Mondo (3): breast ductal adenocarcinoma (MONDO:0005590), intellectual disability (MONDO:0001071), syndromic intellectual disability (MONDO:0000508)

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST000817_93	Height	9.000000e-16
GCST001942_9	Prostate cancer	5.000000e-08
GCST002702_120	Height	2.000000e-09
GCST002829_25	Urate levels in overweight individuals	5.000000e-06
GCST002843_19	Sitting height ratio	6.000000e-09
GCST004067_139	Hip circumference adjusted for BMI	1.000000e-06
GCST004067_96	Hip circumference adjusted for BMI	4.000000e-10
GCST006976_102	Macular thickness	3.000000e-13
GCST008942_2	Chromosomal aberration frequency (chromatid type)	6.000000e-06
GCST009391_2003	Metabolite levels	2.000000e-06
GCST010002_43	Refractive error	8.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0007118	sitting height ratio
EFO:0008039	BMI-adjusted hip circumference
EFO:0009862	chromatid-type aberration frequency
EFO:0010347	cholesteryl ester 20:3 measurement

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

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression, decreases expression, affects cotreatment	2
Valproic Acid	affects expression, decreases expression	2
alpha phellandrene	increases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
beta-lapachone	increases expression	1
afimoxifene	decreases reaction, increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	decreases expression	1
perfluoro-n-nonanoic acid	increases expression	1
K 7174	increases expression	1
abrine	increases expression	1
Sunitinib	increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Estrogens	decreases reaction, increases expression	1
Ozone	affects cotreatment, increases expression, increases abundance	1
Smoke	decreases expression	1
Cyclosporine	increases expression	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1
Volatile Organic Compounds	affects cotreatment, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1LF	Abcam HeLa BOD1 KO	Cancer cell line	Female

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
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
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa 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
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
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)
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
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)