SEMA6D

Summary

SEMA6D (semaphorin 6D, HGNC:16770) is a protein-coding gene on chromosome 15q21.1, encoding Semaphorin-6D (Q8NFY4). Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro.

Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner.

Source: NCBI Gene 80031 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 63
• Clinical variants (ClinVar): 148 total
• MANE Select transcript: NM_001358351

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16770
Approved symbol	SEMA6D
Name	semaphorin 6D
Location	15q21.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1479, FLJ11598
Ensembl gene	ENSG00000137872
Ensembl biotype	protein_coding
OMIM	609295
Entrez	80031

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 35 protein_coding, 2 retained_intron

ENST00000316364, ENST00000354744, ENST00000355997, ENST00000358066, ENST00000389425, ENST00000389428, ENST00000536845, ENST00000558014, ENST00000558431, ENST00000558816, ENST00000559064, ENST00000559184, ENST00000559196, ENST00000560006, ENST00000560636, ENST00000561106, ENST00000561133, ENST00000864669, ENST00000864670, ENST00000864671, ENST00000864672, ENST00000864673, ENST00000864674, ENST00000864675, ENST00000864676, ENST00000864677, ENST00000864678, ENST00000864679, ENST00000864680, ENST00000864681, ENST00000864682, ENST00000864683, ENST00000864684, ENST00000864685, ENST00000864686, ENST00000962906, ENST00000962907

RefSeq mRNA: 9 — MANE Select: NM_001358351 NM_001198999, NM_001358351, NM_001358352, NM_020858, NM_024966, NM_153616, NM_153617, NM_153618, NM_153619

CCDS: CCDS32224, CCDS32225, CCDS32226, CCDS32227, CCDS32228, CCDS32229

Canonical transcript exons

ENST00000536845 — 19 exons

Exon	Start	End
ENSE00000931292	47761330	47761431
ENSE00000931293	47761661	47761751
ENSE00001177529	47764883	47765056
ENSE00001177540	47764638	47764793
ENSE00001177549	47764174	47764305
ENSE00001182298	47765869	47766009
ENSE00001182339	47763850	47764067
ENSE00001182407	47761158	47761220
ENSE00001216179	47768581	47768748
ENSE00001216198	47767037	47767093
ENSE00001216628	47760978	47761038
ENSE00001216633	47760304	47760415
ENSE00001216682	47759745	47759907
ENSE00001505847	47763016	47763104
ENSE00002298011	47770497	47774228
ENSE00002540565	47717505	47717692
ENSE00003585217	47766616	47766677
ENSE00003686809	47766105	47766182
ENSE00003788842	47762200	47762319

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 97.63.

FANTOM5 (CAGE): breadth broad, TPM avg 8.3042 / max 355.5909, expressed in 893 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146528	2.5798	645
146527	2.5672	559
146530	0.9147	315
146509	0.7404	218
146510	0.3837	155
146514	0.2429	12
146526	0.1764	88
146511	0.1664	81
146531	0.1532	77
146529	0.1525	62

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	97.63	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.54	gold quality
substantia nigra pars compacta	UBERON:0001965	97.38	gold quality
medial globus pallidus	UBERON:0002477	96.29	gold quality
globus pallidus	UBERON:0001875	96.27	gold quality
lateral globus pallidus	UBERON:0002476	96.08	gold quality
pigmented layer of retina	UBERON:0001782	94.98	gold quality
renal medulla	UBERON:0000362	94.88	gold quality
postcentral gyrus	UBERON:0002581	94.83	gold quality
superior vestibular nucleus	UBERON:0007227	94.22	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.91	gold quality
jejunum	UBERON:0002115	93.88	gold quality
parietal lobe	UBERON:0001872	93.76	gold quality
parietal pleura	UBERON:0002400	93.73	gold quality
corpus callosum	UBERON:0002336	93.65	gold quality
colonic mucosa	UBERON:0000317	93.60	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.49	gold quality
cartilage tissue	UBERON:0002418	93.25	gold quality
germinal epithelium of ovary	UBERON:0001304	92.97	gold quality
entorhinal cortex	UBERON:0002728	92.40	gold quality
middle temporal gyrus	UBERON:0002771	92.28	gold quality
tendon of biceps brachii	UBERON:0008188	91.83	gold quality
superior frontal gyrus	UBERON:0002661	91.75	gold quality
primary visual cortex	UBERON:0002436	91.74	gold quality
pons	UBERON:0000988	91.33	gold quality
occipital lobe	UBERON:0002021	90.59	gold quality
duodenum	UBERON:0002114	90.27	gold quality
sural nerve	UBERON:0015488	90.09	gold quality
pleura	UBERON:0000977	90.05	gold quality
subthalamic nucleus	UBERON:0001906	89.85	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	43.34
E-CURD-112	yes	9.07
E-HCAD-25	yes	8.82
E-ANND-3	yes	4.72
E-GEOD-98556	no	454.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting SEMA6D, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-4519	99.48	66.10	859
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-20A-3P	99.44	69.10	1575
HSA-MIR-297	99.40	69.58	1418
HSA-MIR-324-3P	99.26	66.31	1034
HSA-MIR-6807-3P	99.15	69.23	1275
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-4751	98.80	64.95	525
HSA-MIR-4686	98.77	66.87	964
HSA-MIR-2276-3P	98.76	67.75	1384
HSA-MIR-147A	98.33	66.40	795
HSA-MIR-4772-3P	98.04	65.60	1203
HSA-MIR-8055	97.62	66.09	1023
HSA-MIR-6818-5P	97.50	67.10	1167
HSA-MIR-125A-3P	97.04	66.92	902

Literature-anchored findings (GeneRIF, showing 7)

• identification, characterization, and functional study of the two novel human members of the semaphorin gene family (PMID:12110693)
• Semaphorin 6D may play an important role in the occurrence and development of gastric carcinoma, and is related to tumor angiogenesis. (PMID:17143962)
• Study provide the first evidence that SEMA3C, SEMA5A and SEMA6D can be considered as markers of liver injury in chronic hepatitis C. While serum concentrations of SEMA3C and SEMA6D significantly increased with fibrosis stage in both HCV-g1 and HCV-g3 infections, the concentration of SEMA5A inversely correlated with fibrosis stage in both HCV genotypes. (PMID:30592759)
• The high expression of SEMA6D and Snail in gastric cancer are related to the malignant clinicopathological indexes of gastric cancer. (PMID:31814570)
• CircUBAP2 promotes SEMA6D expression to enhance the cisplatin resistance in osteosarcoma through sponging miR-506-3p by activating Wnt/beta-catenin signaling pathway. (PMID:32472335)
• Neuroimaging genetic associations between SEMA6D, brain structure, and reading skills. (PMID:33960276)
• Semaphorin 6D tunes amygdalar circuits for emotional, metabolic, and inflammatory outputs. (PMID:39002542)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	sema6d	ENSDARG00000011533
mus_musculus	Sema6d	ENSMUSG00000027200
rattus_norvegicus	Sema6d	ENSRNOG00000004812

Paralogs (19): SEMA3F (ENSG00000001617), SEMA3G (ENSG00000010319), SEMA3B (ENSG00000012171), SEMA3A (ENSG00000075213), SEMA3C (ENSG00000075223), SEMA5B (ENSG00000082684), SEMA6A (ENSG00000092421), SEMA4G (ENSG00000095539), SEMA5A (ENSG00000112902), SEMA4F (ENSG00000135622), SEMA7A (ENSG00000138623), SEMA6C (ENSG00000143434), SEMA3D (ENSG00000153993), SEMA6B (ENSG00000167680), SEMA4C (ENSG00000168758), SEMA3E (ENSG00000170381), SEMA4B (ENSG00000185033), SEMA4D (ENSG00000187764), SEMA4A (ENSG00000196189)

Protein

Protein identifiers

Semaphorin-6D — Q8NFY4 (reviewed: Q8NFY4)

All UniProt accessions (7): A0A185QE25, Q8NFY4, H0YL82, H0YM97, H0YMA6, H0YMP7, H0YMV0

UniProt curated annotations — full annotation on UniProt →

Function. Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections. Ligand of TREM2 with PLXNA1 as coreceptor in dendritic cells, plays a role in the generation of immune responses and skeletal homeostasis.

Subcellular location. Cell membrane Cell membrane Cell membrane Cell membrane Cell membrane Cytoplasm.

Similarity. Belongs to the semaphorin family.

Isoforms (8)

UniProt ID	Names	Canonical?
Q8NFY4-1	4, SEMA6D.4	yes
Q8NFY4-2	1, SEMA6D.1
Q8NFY4-3	2, SEMA6D.2
Q8NFY4-4	3, SEMA6D.3
Q8NFY4-5	5
Q8NFY4-6	6
Q8NFY4-7	7, SEMA6Ds, Short
Q8NFY4-8	8

RefSeq proteins (9): NP_001185928, NP_001345280, NP_001345281, NP_065909, NP_079242, NP_705869, NP_705870, NP_705871, NP_705872 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001627	Semap_dom	Domain
IPR002165	Plexin_repeat	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR016201	PSI	Domain
IPR027231	Semaphorin	Family
IPR036352	Semap_dom_sf	Homologous_superfamily

Pfam: PF01403, PF01437

UniProt features (45 total): disulfide bond 8, modified residue 7, splice variant 6, region of interest 5, glycosylation site 5, compositionally biased region 4, sequence variant 3, topological domain 2, domain 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NFY4-F1	67.95	0.45

Functional residue map

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

Post-translational modifications (7): 723, 734, 744, 773, 931, 957, 983

Disulfide bonds (8): 108–118, 136–145, 259–370, 284–329, 477–506, 515–533, 521–568, 525–541

Glycosylation sites (5): 51, 283, 435, 461, 631

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-416700	Other semaphorin interactions
R-HSA-1266738	Developmental Biology
R-HSA-373755	Semaphorin interactions
R-HSA-422475	Axon guidance
R-HSA-9675108	Nervous system development

MSigDB gene sets: 381 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, TAATAAT_MIR126, BENPORATH_ES_WITH_H3K27ME3, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_NEGATIVE_REGULATION_OF_AXON_EXTENSION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, PEREZ_TP63_TARGETS, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, REACTOME_OTHER_SEMAPHORIN_INTERACTIONS, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN

GO Biological Process (13): neural crest cell migration (GO:0001755), T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291), axon guidance (GO:0007411), smooth muscle cell migration (GO:0014909), positive regulation of smooth muscle cell migration (GO:0014911), negative regulation of smooth muscle cell migration (GO:0014912), ventricular system development (GO:0021591), positive regulation of cell migration (GO:0030335), negative regulation of axon extension (GO:0030517), semaphorin-plexin signaling pathway (GO:0071526), nervous system development (GO:0007399), cell differentiation (GO:0030154), negative chemotaxis (GO:0050919)

GO Molecular Function (4): semaphorin receptor binding (GO:0030215), chemorepellent activity (GO:0045499), receptor ligand activity (GO:0048018), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Semaphorin interactions	1
Axon guidance	1
Nervous system development	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
smooth muscle cell migration	2
regulation of smooth muscle cell migration	2
system development	2
signaling receptor binding	2
neural crest cell development	1
mesenchymal cell migration	1
T cell activation involved in immune response	1
axonogenesis	1
neuron projection guidance	1
muscle cell migration	1
positive regulation of cell migration	1
negative regulation of cell migration	1
brain development	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
negative regulation of cell growth	1
regulation of axon extension	1
negative regulation of developmental growth	1
axon extension	1
negative regulation of axonogenesis	1
cell surface receptor signaling pathway	1
cellular developmental process	1
chemotaxis	1
receptor ligand activity	1
negative chemotaxis	1
signal transduction	1
signaling receptor activator activity	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

902 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEMA6D	PLXNA1	Q9UIW2	989
SEMA6D	PLXNA4	Q9HCM2	921
SEMA6D	NRCAM	Q92823	845
SEMA6D	PLXNA2	O75051	820
SEMA6D	TREM2	Q9NZC2	788
SEMA6D	SPG11	Q96JI7	758
SEMA6D	TYROBP	O43914	727
SEMA6D	SPG21	Q9NZD8	715
SEMA6D	SPG7	Q9UQ90	689
SEMA6D	PLXNA3	P51805	682
SEMA6D	NRP1	O14786	581
SEMA6D	SLC12A6	Q9UHW9	547
SEMA6D	CALB1	P05937	496
SEMA6D	PLXNC1	O60486	486
SEMA6D	PLXND1	Q9Y4D7	486

IntAct

3 interactions, top by confidence:

A	B	Type	Score
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (18): TPM2 (Affinity Capture-MS), SEMA6D (Affinity Capture-RNA), SEMA6D (Affinity Capture-RNA), SEMA6D (Affinity Capture-RNA), SEMA6D (Proximity Label-MS), SEMA6D (Affinity Capture-RNA), SEMA6D (Affinity Capture-MS), SEMA6D (Affinity Capture-MS), SEMA6D (Affinity Capture-MS), SEMA6D (Affinity Capture-MS), SEMA6D (Affinity Capture-MS), SEMA6D (Proximity Label-MS), SEMA6D (Proximity Label-MS), SEMA6D (Proximity Label-MS), SEMA6D (Proximity Label-MS)

ESM2 similar proteins: A0A8M2B818, A0A8M9PFP2, A1XQX3, A1XQY0, A1XQY3, B0S5G3, D0PRN4, F1N4M2, L7VG99, O35158, O35464, O61307, Q01083, Q14DG7, Q24322, Q3KN41, Q3UHK6, Q3UN70, Q568T5, Q58EG3, Q5R7F5, Q62765, Q62889, Q66IV1, Q76KF0, Q7T2X6, Q8BMA3, Q8N2Q7, Q8NFY4, Q8VDA1, Q90Z04, Q91713, Q96LU7, Q9DER5, Q9ER65, Q9H2E6, Q9H4D0, Q9HDB5, Q9NT68, Q9NZ94

Diamond homologs: A7MB70, D3ZTD8, O08665, O09126, O15041, O35464, O42236, O42237, O88632, O95025, O95754, P70275, Q13214, Q13275, Q13591, Q14563, Q17330, Q24322, Q24323, Q26473, Q26972, Q4LFA9, Q5EA85, Q5R7F5, Q5RE75, Q60519, Q62177, Q62178, Q62179, Q62181, Q62217, Q63548, Q64151, Q76KF0, Q8BH34, Q8NFY4, Q90607, Q90663, Q90665, Q92854

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	113
Likely benign	18
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

2705 predictions. Top by Δscore:

Variant	Effect	Δscore
15:47717564:G:GT	donor_gain	1.0000
15:47758791:ATTT:A	acceptor_gain	1.0000
15:47758794:T:TA	acceptor_gain	1.0000
15:47759906:CT:C	donor_gain	1.0000
15:47759908:G:GG	donor_gain	1.0000
15:47760973:AACAG:A	acceptor_gain	1.0000
15:47760976:A:AG	acceptor_gain	1.0000
15:47760976:AG:A	acceptor_gain	1.0000
15:47760976:AGG:A	acceptor_gain	1.0000
15:47760977:G:GG	acceptor_gain	1.0000
15:47760977:GG:G	acceptor_gain	1.0000
15:47760977:GGG:G	acceptor_gain	1.0000
15:47761156:A:AG	acceptor_gain	1.0000
15:47761157:G:GG	acceptor_gain	1.0000
15:47761221:G:GG	donor_gain	1.0000
15:47761324:CTTTA:C	acceptor_loss	1.0000
15:47761325:TTTA:T	acceptor_loss	1.0000
15:47761326:TTA:T	acceptor_loss	1.0000
15:47761327:TAGG:T	acceptor_loss	1.0000
15:47761328:A:AG	acceptor_gain	1.0000
15:47761328:AG:A	acceptor_gain	1.0000
15:47761328:AGGAT:A	acceptor_gain	1.0000
15:47761329:G:GA	acceptor_gain	1.0000
15:47761329:GG:G	acceptor_gain	1.0000
15:47761329:GGAT:G	acceptor_gain	1.0000
15:47761329:GGATG:G	acceptor_gain	1.0000
15:47761427:ACAGG:A	donor_gain	1.0000
15:47761428:CAGG:C	donor_gain	1.0000
15:47761429:AGG:A	donor_gain	1.0000
15:47761430:GG:G	donor_gain	1.0000

AlphaMissense

7070 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:47760980:A:C	D75A	1.000
15:47760980:A:T	D75V	1.000
15:47760986:T:A	V77D	1.000
15:47761162:T:C	L96P	1.000
15:47761167:T:A	W98R	1.000
15:47761167:T:C	W98R	1.000
15:47761168:G:C	W98S	1.000
15:47761169:G:C	W98C	1.000
15:47761169:G:T	W98C	1.000
15:47761197:T:A	C108S	1.000
15:47761197:T:C	C108R	1.000
15:47761198:G:A	C108Y	1.000
15:47761198:G:C	C108S	1.000
15:47761198:G:T	C108F	1.000
15:47761199:T:G	C108W	1.000
15:47761209:G:T	G112C	1.000
15:47761336:T:A	C118S	1.000
15:47761336:T:C	C118R	1.000
15:47761337:G:A	C118Y	1.000
15:47761337:G:C	C118S	1.000
15:47761337:G:T	C118F	1.000
15:47761338:C:G	C118W	1.000
15:47761344:C:A	N120K	1.000
15:47761344:C:G	N120K	1.000
15:47761388:T:A	V135D	1.000
15:47761390:T:A	C136S	1.000
15:47761390:T:C	C136R	1.000
15:47761391:G:A	C136Y	1.000
15:47761391:G:C	C136S	1.000
15:47761391:G:T	C136F	1.000

dbSNP variants (sampled 300 via entrez): RS1000001005 (15:47457919 A>G), RS1000010256 (15:47645744 G>A), RS1000011264 (15:47375316 C>G), RS1000014806 (15:47473569 C>A,T), RS1000015120 (15:47183305 A>C), RS1000023908 (15:47513818 A>T), RS1000025331 (15:47367280 T>C), RS1000053135 (15:47513623 A>G), RS1000054327 (15:47390308 C>A,T), RS1000055524 (15:47277882 G>A), RS1000057723 (15:47450833 G>A), RS1000064587 (15:47204520 G>A), RS1000064700 (15:47351052 G>C), RS1000068070 (15:47297972 G>A), RS1000068203 (15:47747673 T>C)

Disease associations

OMIM: gene MIM:609295 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Limited	Autosomal dominant

Mondo (1): complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (0):

HPO phenotypes

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

GWAS associations

63 associations (top):

Study	Trait	p-value
GCST001644_6	Eating disorders	8.000000e-06
GCST002097_35	Coronary artery calcification	7.000000e-06
GCST002431_4	Response to radiotherapy in cancer (late toxicity)	4.000000e-06
GCST002482_4	Carotid plaque burden (smoking interaction)	9.000000e-06
GCST002783_96	Body mass index	5.000000e-06
GCST002875_113	Diisocyanate-induced asthma	5.000000e-06
GCST003264_1621	Post bronchodilator FEV1/FVC ratio	1.000000e-06
GCST003264_416	Post bronchodilator FEV1/FVC ratio	5.000000e-07
GCST003478_7	Hair greying	3.000000e-07
GCST003958_12	Inflammatory bowel disease	1.000000e-08
GCST003958_4	Inflammatory bowel disease	4.000000e-06
GCST003960_2	Ulcerative colitis	5.000000e-07
GCST003960_5	Ulcerative colitis	4.000000e-10
GCST004748_32	Lung cancer	3.000000e-08
GCST004904_177	Body mass index	3.000000e-08
GCST005042_15	Restless legs syndrome	3.000000e-16
GCST005232_44	Neuroticism	5.000000e-11
GCST005362_2	Attention deficit hyperactivity disorder	3.000000e-08
GCST005790_35	Rosacea symptom severity	7.000000e-06
GCST005830_52	Hand grip strength	1.000000e-08
GCST006483_37	Lung function (FVC)	2.000000e-08
GCST006483_38	Lung function (FVC)	2.000000e-06
GCST006697_27	Parental longevity (combined parental attained age, Martingale residuals)	7.000000e-06
GCST006701_1	Parental longevity (father’s attained age)	1.000000e-08
GCST006940_21	Neurociticism	4.000000e-08
GCST006979_1019	Heel bone mineral density	1.000000e-09
GCST006983_10	Attention deficit hyperactivity disorder or cannabis use	4.000000e-11
GCST007323_66	Risk-taking tendency (4-domain principal component model)	8.000000e-12
GCST007325_223	General risk tolerance (MTAG)	3.000000e-09
GCST007325_75	General risk tolerance (MTAG)	6.000000e-10

EFO canonical traits (29, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification
EFO:0006501	carotid plaque build
EFO:0004340	body mass index
EFO:0006995	response to diisocyanate
EFO:0004713	FEV/FVC ratio
EFO:0007660	neuroticism measurement
EFO:0009180	rosacea severity measurement
EFO:0006941	grip strength measurement
EFO:0004312	vital capacity
EFO:0007796	parental longevity
EFO:0009270	heel bone mineral density
EFO:0007585	Cannabis use
EFO:0008579	risk-taking behaviour
EFO:0004318	smoking behavior
EFO:0005301	reading and spelling ability
EFO:0004324	body weights and measures
EFO:0008328	chronotype measurement
EFO:0004886	intracranial volume measurement
EFO:0005670	smoking initiation
EFO:0006946	behavioural disinhibition measurement
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0007969	cognitive inhibition measurement
EFO:0009695	household income
EFO:0008111	diet measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0006527	smoking status measurement
EFO:0009749	age at first sexual intercourse measurement
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Particulate Matter	decreases expression, increases abundance, increases expression	3
methylmercuric chloride	decreases expression	2
Panobinostat	decreases expression, affects cotreatment	2
Nickel	decreases expression	2
Tretinoin	decreases expression, increases expression	2
Valproic Acid	affects expression, decreases expression	2
FR900359	decreases phosphorylation	1
bisphenol A	affects cotreatment, affects methylation	1
trichostatin A	decreases expression	1
hydroxyhydroquinone	decreases expression	1
arsenite	increases methylation	1
zinc chromate	increases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
nickel sulfate	increases expression	1
triadimefon	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
avobenzone	decreases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
azoxystrobin	decreases expression	1
CGP 52608	increases reaction, affects binding	1
entinostat	decreases expression	1
fenpyroximate	decreases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
pyrimidifen	decreases expression	1
belinostat	decreases expression	1
pyrachlostrobin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder