BOC

Summary

BOC (BOC cell adhesion associated, oncogene regulated, HGNC:17173) is a protein-coding gene on chromosome 3q13.2, encoding Brother of CDO (Q9BWV1). Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells.

The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 91653 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 237 total
• MANE Select transcript: NM_001378074

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17173
Approved symbol	BOC
Name	BOC cell adhesion associated, oncogene regulated
Location	3q13.2
Locus type	gene with protein product
Status	Approved
Aliases	CDON2, Boi
Ensembl gene	ENSG00000144857
Ensembl biotype	protein_coding
OMIM	608708
Entrez	91653

Gene structure

Transcript identifiers

Ensembl transcripts: 53 — 46 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000273395, ENST00000355385, ENST00000462425, ENST00000463971, ENST00000464546, ENST00000466059, ENST00000471963, ENST00000473008, ENST00000477178, ENST00000479182, ENST00000484034, ENST00000485230, ENST00000488486, ENST00000494687, ENST00000495514, ENST00000497495, ENST00000498710, ENST00000682979, ENST00000909635, ENST00000909636, ENST00000909637, ENST00000909638, ENST00000909639, ENST00000909640, ENST00000909641, ENST00000909642, ENST00000909643, ENST00000909644, ENST00000909645, ENST00000909646, ENST00000909647, ENST00000909648, ENST00000909649, ENST00000909650, ENST00000909651, ENST00000909652, ENST00000909653, ENST00000909654, ENST00000909655, ENST00000928196, ENST00000928198, ENST00000959892, ENST00000959893, ENST00000959894, ENST00000959895, ENST00000959896, ENST00000959897, ENST00000959898, ENST00000959899, ENST00000959900, ENST00000959901, ENST00000959902, ENST00000959903

RefSeq mRNA: 17 — MANE Select: NM_001378074 NM_001301861, NM_001301867, NM_001378073, NM_001378074, NM_001378075, NM_001387919, NM_001387920, NM_001387921, NM_001387922, NM_001387923, NM_001387924, NM_001387925, NM_001387926, NM_001387927, NM_001387928, NM_001387932, NM_033254

CCDS: CCDS2971, CCDS77788, CCDS77789

Canonical transcript exons

ENST00000682979 — 20 exons

Exon	Start	End
ENSE00000967561	113272410	113272703
ENSE00001954983	113216187	113216274
ENSE00003490364	113273069	113273341
ENSE00003498394	113274375	113274682
ENSE00003518812	113278095	113278257
ENSE00003522651	113279824	113280005
ENSE00003526913	113268299	113268445
ENSE00003548971	113283411	113283632
ENSE00003557781	113285372	113285565
ENSE00003572466	113280558	113280663
ENSE00003586896	113284335	113284567
ENSE00003612248	113284782	113284858
ENSE00003614839	113281031	113281153
ENSE00003617055	113279249	113279455
ENSE00003648291	113250555	113250833
ENSE00003685018	113270801	113270944
ENSE00003686349	113278673	113278783
ENSE00003742577	113286675	113287459
ENSE00003800819	113249722	113249899
ENSE00003917279	113211557	113212016

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 98.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.4758 / max 517.0624, expressed in 1207 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
37956	9.1823	875
37953	1.7571	788
37954	1.3215	572
37959	1.2248	686
37955	0.6939	279
37957	0.5289	178
37960	0.4208	252
37958	0.1275	61
202883	0.0822	40
37952	0.0741	39

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	98.83	gold quality
oviduct epithelium	UBERON:0004804	98.75	gold quality
ventricular zone	UBERON:0003053	98.59	gold quality
left uterine tube	UBERON:0001303	97.75	gold quality
upper arm skin	UBERON:0004263	97.63	gold quality
mucosa of stomach	UBERON:0001199	97.01	gold quality
fallopian tube	UBERON:0003889	96.67	gold quality
parotid gland	UBERON:0001831	96.41	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.35	gold quality
lower esophagus	UBERON:0013473	96.33	gold quality
upper leg skin	UBERON:0004262	96.19	gold quality
right uterine tube	UBERON:0001302	95.90	gold quality
body of uterus	UBERON:0009853	95.88	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.69	gold quality
tibia	UBERON:0000979	95.25	gold quality
pericardium	UBERON:0002407	95.16	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.10	gold quality
cauda epididymis	UBERON:0004360	94.93	gold quality
smooth muscle tissue	UBERON:0001135	94.91	gold quality
myometrium	UBERON:0001296	94.87	gold quality
right ovary	UBERON:0002118	94.70	gold quality
skin of abdomen	UBERON:0001416	94.65	gold quality
zone of skin	UBERON:0000014	94.36	gold quality
skin of leg	UBERON:0001511	94.17	gold quality
nipple	UBERON:0002030	93.96	gold quality
peritoneum	UBERON:0002358	93.86	gold quality
omental fat pad	UBERON:0010414	93.86	gold quality
left ovary	UBERON:0002119	93.81	gold quality
mammalian vulva	UBERON:0000997	93.75	gold quality
ganglionic eminence	UBERON:0004023	93.74	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	13.66
E-CURD-119	yes	9.38
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting BOC, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-155-5P	99.35	70.16	1509
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-130A-5P	99.33	70.26	2623

Literature-anchored findings (GeneRIF, showing 10)

• BOC, along with CDO, defines a new subfamily of the immunoglobulin superfamily that is conserved from Drosophila to man. BOC and CDO form a putative receptor complex that stimulates differentiation of myoblasts. (PMID:11782431)
• CDO and BOC play a role in differentiation of cells in the skeletal muscle lineage (PMID:12720294)
• Cdo and Boc bind Shh through a high-affinity interaction with a specific fibronectin repeat that is essential for activity. (PMID:16647304)
• Boc receptor is required for segregation of ipsilateral axons at the optic chiasm and, conversely, Boc expression in contralateral retinal ganglion cells prevents their axons from crossing the optic chiasm. (PMID:20053908)
• Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner (PMID:20519495)
• BOC interacts with ABL and activates JNK thereby promoting neuronal differentiation and neurite outgrowth. (PMID:27871935)
• we report the identification of missense BOC variants in HPE patients. Consistent with these alleles functioning as HPE modifiers, individual variant BOC proteins had either loss- or gain-of-function properties in cell-based SHH signaling assays. (PMID:28677295)
• Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype (PMID:28915250)
• Elevated plasma endocan and BOC in heart failure patients decrease after heart transplantation in association with improved hemodynamics. (PMID:32651845)
• Female-Specific Susceptibility Locus in BOC and SEC16B are Associated with Adolescent Idiopathic Scoliosis. (PMID:33958541)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	boc	ENSDARG00000074335
mus_musculus	Boc	ENSMUSG00000022687
rattus_norvegicus	Boc	ENSRNOG00000002041

Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)

Protein

Protein identifiers

Brother of CDO — Q9BWV1 (reviewed: Q9BWV1)

All UniProt accessions (8): Q9BWV1, C9J2L7, C9J7V2, C9J9M5, C9JZ38, H7C4U8, H7C5J2, Q96DN7

UniProt curated annotations — full annotation on UniProt →

Function. Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells.

Subunit / interactions. Part of a complex that contains BOC, CDON, NEO1, cadherins and CTNNB1. Interacts with NTN3. Interacts with SHH, DHH and IHH. Interacts with CDH2 and CTNNB1. Interacts with CDH15 only during the early stages of myoblast differentiation.

Subcellular location. Cell membrane.

Tissue specificity. Detected in skeletal muscle, heart, thymus, kidney and small intestine. Detected at lower levels in brain, placenta, lung and colon mucosa.

Post-translational modifications. N-glycosylated.

Miscellaneous. The C-terminal cytoplasmic domain is not required for the stimulation of myogenesis.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BWV1-1	1	yes
Q9BWV1-3	2

RefSeq proteins (16): NP_001288790, NP_001288796, NP_001365002, NP_001365003, NP_001365004, NP_001374848, NP_001374849, NP_001374850, NP_001374851, NP_001374852, NP_001374853, NP_001374854, NP_001374855, NP_001374856, NP_001374857, NP_150279 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR003961	FN3_dom	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily

Pfam: PF00041, PF07679, PF13927, PF16625

UniProt features (44 total): glycosylation site 8, domain 7, strand 7, region of interest 4, disulfide bond 4, sequence variant 3, compositionally biased region 2, topological domain 2, helix 2, signal peptide 1, chain 1, transmembrane region 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3N1M	X-RAY DIFFRACTION	1.69
3N1G	X-RAY DIFFRACTION	1.9
3N1P	X-RAY DIFFRACTION	2.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BWV1-F1	63.98	0.11

Functional residue map

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

Disulfide bonds (4): 57–106, 150–200, 252–299, 344–391

Glycosylation sites (8): 65, 76, 98, 189, 275, 517, 725, 759

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-5632681	Ligand-receptor interactions
R-HSA-5635838	Activation of SMO
R-HSA-525793	Myogenesis
R-HSA-5635851	GLI proteins bind promoters of Hh responsive genes to promote transcription
R-HSA-162582	Signal Transduction
R-HSA-5358351	Signaling by Hedgehog
R-HSA-5632684	Hedgehog ‘on’ state

MSigDB gene sets: 142 (showing top): BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, LFA1_Q6, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, CHANDRAN_METASTASIS_DN, COUP_01, NKX61_01, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_MYOBLAST_DIFFERENTIATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, AML_Q6, ROZANOV_MMP14_TARGETS_UP

GO Biological Process (5): nervous system development (GO:0007399), axon guidance (GO:0007411), positive regulation of myoblast differentiation (GO:0045663), cell-cell adhesion (GO:0098609), cell adhesion (GO:0007155)

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

GO Cellular Component (4): plasma membrane (GO:0005886), axon (GO:0030424), axonal growth cone (GO:0044295), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Hedgehog ‘on’ state	3
Developmental Biology	1
Signal Transduction	1
Signaling by Hedgehog	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
system development	1
axonogenesis	1
neuron projection guidance	1
myoblast differentiation	1
positive regulation of cell differentiation	1
regulation of myoblast differentiation	1
cell adhesion	1
cellular process	1
binding	1
membrane	1
cell periphery	1
neuron projection	1
growth cone	1
cellular anatomical structure	1

Protein interactions and networks

STRING

614 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BOC	SHH	Q15465	936
BOC	PTCH1	Q13635	926
BOC	GAS1	P54826	814
BOC	PTCH2	Q9Y6C5	729
BOC	SMO	Q99835	614
BOC	HHIP	Q96QV1	579
BOC	DHH	O43323	571
BOC	TNNT1	P13805	552
BOC	SUFU	Q9UMX1	521
BOC	IHH	Q14623	518
BOC	CDH15	P55291	510
BOC	GLI3	P10071	476
BOC	KIF7	Q2M1P5	476
BOC	GLI1	P08151	462
BOC	SCUBE2	Q9NQ36	453

IntAct

22 interactions, top by confidence:

A	B	Type	Score
IHH	BOC	psi-mi:“MI:0407”(direct interaction)	0.560
DHH	BOC	psi-mi:“MI:0407”(direct interaction)	0.560
BOC	Cdon	psi-mi:“MI:0915”(physical association)	0.520
BOC	Gas1	psi-mi:“MI:0915”(physical association)	0.520
Shh	BOC	psi-mi:“MI:0407”(direct interaction)	0.440
BOC	RRBP1	psi-mi:“MI:0915”(physical association)	0.400
BOC	IL12B	psi-mi:“MI:0915”(physical association)	0.400
LILRA6	BOC	psi-mi:“MI:0915”(physical association)	0.400
MPIG6B	BOC	psi-mi:“MI:0915”(physical association)	0.400
BOC	SIGLEC7	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC9	BOC	psi-mi:“MI:0915”(physical association)	0.400
BOC	LTF	psi-mi:“MI:0915”(physical association)	0.400
BOC	ACOX1	psi-mi:“MI:0914”(association)	0.350
BOC	ALDH1A2	psi-mi:“MI:0914”(association)	0.350
BOC	gntP	psi-mi:“MI:0915”(physical association)	0.000
BOC	TULP3	psi-mi:“MI:0915”(physical association)	0.000
BOC	RIF1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (27): CDH15 (Affinity Capture-Western), KLHL24 (Affinity Capture-MS), OAF (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), ACOX1 (Affinity Capture-MS), WDR54 (Affinity Capture-MS), CTNNB1 (Affinity Capture-Western), CDH2 (Affinity Capture-Western), LRIF1 (Two-hybrid), BOC (Two-hybrid), BANP (Two-hybrid), RRBP1 (Proximity Label-MS), BOC (Two-hybrid), Sgtb (Two-hybrid), KLHL24 (Affinity Capture-MS)

ESM2 similar proteins: A1A5C7, A6H7A0, B0BMW8, B0CM95, B0KWE9, B1MTH4, B2KI79, O43688, O62772, O75147, P0CK96, P35438, P35439, P52875, P57791, Q05586, Q28D01, Q2KJ29, Q3KNV8, Q3SZQ2, Q3UHH2, Q4L208, Q4V899, Q5R1P0, Q5R890, Q5SP67, Q5ZJ75, Q7TPB4, Q86YN1, Q8BTQ0, Q8C6G8, Q8C811, Q8R4D1, Q8VDI9, Q8VE98, Q90812, Q9BWV1, Q9D9E0, Q9H6U8, Q9H7D7

Diamond homologs: A0A1Y9G8H0, A0A452E9Y6, A1KZ92, A2A8L5, A2AJ76, A4IFW2, A4IGL7, A4IIW9, A5JUY8, A7MBJ4, A8WGA3, A8WQH2, B0BNK7, B3A0P3, D2HFT7, D3YXG0, D4A1J9, D4ABX8, G5EBF1, G5EG78, H2A0M7, O15146, O35158, O55005, O89026, P05164, P07202, P09933, P0C6S8, P0C7J6, P11247, P11678, P14650, P16621, P22079, P23468, P35419, P49290, P70193, P80025

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
BOC	“form complex”	CDON/BOC/PTCH1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	187
Likely benign	13
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

4574 predictions. Top by Δscore:

Variant	Effect	Δscore
3:113250830:GCCA:G	donor_gain	1.0000
3:113250834:G:GG	donor_gain	1.0000
3:113264024:GAGT:G	donor_gain	1.0000
3:113268294:CACA:C	acceptor_loss	1.0000
3:113268297:A:AG	acceptor_gain	1.0000
3:113268298:G:GC	acceptor_gain	1.0000
3:113268298:GAT:G	acceptor_gain	1.0000
3:113268443:GAG:G	donor_gain	1.0000
3:113268447:T:A	donor_loss	1.0000
3:113269099:G:GT	donor_gain	1.0000
3:113270902:G:GT	donor_gain	1.0000
3:113270931:GC:G	donor_gain	1.0000
3:113270932:C:G	donor_gain	1.0000
3:113270940:GCGCC:G	donor_gain	1.0000
3:113270942:GCC:G	donor_gain	1.0000
3:113270945:G:GG	donor_gain	1.0000
3:113272699:GTTTG:G	donor_gain	1.0000
3:113272700:TTTGG:T	donor_loss	1.0000
3:113272701:TTGGT:T	donor_loss	1.0000
3:113272703:GGTGA:G	donor_loss	1.0000
3:113272704:G:GG	donor_gain	1.0000
3:113272704:GTGAG:G	donor_loss	1.0000
3:113272705:TGAGT:T	donor_loss	1.0000
3:113272706:GAGTG:G	donor_loss	1.0000
3:113273342:G:GG	donor_gain	1.0000
3:113278784:G:GG	donor_gain	1.0000
3:113278820:G:GT	donor_gain	1.0000
3:113280001:GGATG:G	donor_gain	1.0000
3:113280002:GATGG:G	donor_gain	1.0000
3:113280003:ATGGT:A	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000020093 (3:113265632 A>C), RS1000137851 (3:113229989 T>C), RS1000153801 (3:113220967 G>T), RS1000173671 (3:113211604 C>T), RS1000246193 (3:113259836 C>T), RS1000356045 (3:113276276 C>A,T), RS1000361532 (3:113217720 G>A), RS1000365353 (3:113253878 G>A), RS1000381359 (3:113270351 A>AT), RS1000405791 (3:113217887 A>G), RS1000448405 (3:113240983 G>C), RS1000471760 (3:113253119 T>A), RS1000490774 (3:113229797 C>T), RS1000493678 (3:113287104 C>A,T), RS1000529771 (3:113239548 C>T)

Disease associations

OMIM: gene MIM:608708 | disease phenotypes: MIM:236100

GenCC curated gene-disease

Mondo (1): holoprosencephaly (MONDO:0016296)

Orphanet (1): Holoprosencephaly (Orphanet:2162)

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST001786_12	Dental caries	2.000000e-06
GCST001942_7	Prostate cancer	4.000000e-13
GCST005588_19	Idiopathic dilated cardiomyopathy	4.000000e-09
GCST006585_1081	Blood protein levels	1.000000e-13
GCST007856_62	Colorectal cancer or advanced adenoma	7.000000e-08
GCST008788_8	Adolescent idiopathic scoliosis	3.000000e-09
GCST008839_351	Height	3.000000e-09
GCST009360_1	LDL cholesterol levels x long total sleep time interaction (1df test)	5.000000e-06
GCST009366_13	LDL cholesterol levels x long total sleep time interaction (2df test)	3.000000e-07
GCST009366_6	LDL cholesterol levels x long total sleep time interaction (2df test)	1.000000e-09
GCST010397_68	Gut microbiota (bacterial taxa, rank normal transformation method)	5.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009094	idiopathic dilated cardiomyopathy
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0007874	gut microbiome measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016142	Holoprosencephaly	C05.660.207.410; C10.500.034.875; C16.131.077.410; C16.131.260.380; C16.131.621.207.410; C16.131.666.034.875; C16.320.180.380

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	4
Benzo(a)pyrene	decreases methylation, increases expression, affects methylation	3
mercuric bromide	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Estradiol	affects cotreatment, increases expression	2
methylmercuric chloride	decreases expression, increases expression	1
bisphenol A	decreases methylation	1
trichostatin A	increases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	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	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	decreases methylation	1
Chelating Agents	affects binding, decreases expression	1
Cisplatin	decreases expression, affects cotreatment	1
Copper	affects binding, decreases expression	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	decreases expression, affects cotreatment	1
Methapyrilene	increases methylation	1
Nickel	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00005016	Not specified	COMPLETED	Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly
NCT00088426	Not specified	COMPLETED	Clinical and Genetic Studies on Holoprosencephaly
NCT00645645	Not specified	COMPLETED	A Study of the Genetic Analysis of Brain Disorders
NCT04691414	Not specified	COMPLETED	Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.