SORCS3

Summary

SORCS3 (sortilin related VPS10 domain containing receptor 3, HGNC:16699) is a protein-coding gene on chromosome 10q25.1, encoding VPS10 domain-containing receptor SorCS3 (Q9UPU3). Plays an important role in modulating synaptic transmission and plasticity in the hippocampus, probably by affecting the trafficking and localization ofAMPA-type glutamate receptors in the postsynaptic density.

This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer’s disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing.

Source: NCBI Gene 22986 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 33
• Clinical variants (ClinVar): 204 total
• MANE Select transcript: NM_014978

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16699
Approved symbol	SORCS3
Name	sortilin related VPS10 domain containing receptor 3
Location	10q25.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1059, SORCS
Ensembl gene	ENSG00000156395
Ensembl biotype	protein_coding
OMIM	606285
Entrez	22986

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000369701, ENST00000393176

RefSeq mRNA: 1 — MANE Select: NM_014978 NM_014978

CCDS: CCDS7558

Canonical transcript exons

ENST00000369701 — 27 exons

Exon	Start	End
ENSE00001026146	105252775	105252906
ENSE00001026173	105262331	105262491
ENSE00001026175	105255702	105255801
ENSE00001026181	105256819	105256924
ENSE00001290915	105178066	105178173
ENSE00001295275	105089775	105089839
ENSE00001296610	105139397	105139486
ENSE00001307365	105147617	105147796
ENSE00001314812	105043055	105043128
ENSE00001316193	105105397	105105515
ENSE00001323908	104842792	104842859
ENSE00001324184	104915833	104915932
ENSE00001328163	105158892	105158994
ENSE00001329293	105157138	105157284
ENSE00001603298	104641290	104641954
ENSE00001612826	105216936	105217122
ENSE00001629355	105247219	105247331
ENSE00001630210	105214442	105214613
ENSE00001633275	105167258	105167349
ENSE00001792778	105164303	105164379
ENSE00002434951	104977335	104977493
ENSE00003716910	105201120	105201253
ENSE00003722030	105245542	105245665
ENSE00003745000	105199999	105200116
ENSE00003752880	105223116	105223249
ENSE00003786200	105211137	105211250
ENSE00003841326	105263310	105265242

Expression profiles

Bgee: expression breadth ubiquitous, 118 present calls, max score 80.30.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8847 / max 42.4831, expressed in 191 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106900	0.6836	154
106899	0.1515	68
106898	0.0496	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	80.30	gold quality
cortical plate	UBERON:0005343	80.23	gold quality
Brodmann (1909) area 10	UBERON:0013541	79.84	silver quality
prefrontal cortex	UBERON:0000451	78.56	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.59	gold quality
nucleus accumbens	UBERON:0001882	75.20	gold quality
frontal cortex	UBERON:0001870	74.01	gold quality
neocortex	UBERON:0001950	73.96	gold quality
sural nerve	UBERON:0015488	73.64	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	73.49	gold quality
Brodmann (1909) area 9	UBERON:0013540	73.49	gold quality
cingulate cortex	UBERON:0003027	73.36	gold quality
anterior cingulate cortex	UBERON:0009835	73.21	gold quality
frontal pole	UBERON:0002795	72.60	silver quality
cerebral cortex	UBERON:0000956	72.06	gold quality
paraflocculus	UBERON:0005351	71.87	gold quality
right frontal lobe	UBERON:0002810	71.63	gold quality
ganglionic eminence	UBERON:0004023	71.45	gold quality
primary visual cortex	UBERON:0002436	71.38	gold quality
telencephalon	UBERON:0001893	70.95	gold quality
middle frontal gyrus	UBERON:0002702	70.81	gold quality
orbitofrontal cortex	UBERON:0004167	70.58	silver quality
Brodmann (1909) area 23	UBERON:0013554	70.50	gold quality
hypothalamus	UBERON:0001898	70.21	gold quality
forebrain	UBERON:0001890	70.05	gold quality
caudate nucleus	UBERON:0001873	69.94	gold quality
endometrium epithelium	UBERON:0004811	69.76	gold quality
superior frontal gyrus	UBERON:0002661	68.96	gold quality
putamen	UBERON:0001874	68.87	gold quality
brain	UBERON:0000955	68.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

145 targeting SORCS3, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753

Literature-anchored findings (GeneRIF, showing 9)

• The propeptide is not a requirement for normal processing of the receptor and does not prevent ligands from binding to the SorCS3 precursor form (PMID:15710408)
• SORCS3 may be important in MS pathogenesis. (PMID:26362888)
• Here the authors have characterized SorCS1, SorCS2 and SorCS3 using biochemical methods and electron microscopy. They found that their purified extracellular domains co-exist in stable dimeric and monomeric populations. (PMID:28827148)
• First study reporting on human subjects with a SORCS3 gene defect with infantile spasms and intellectual disability; this supports the important role of SORCS3 in the central nervous system. (PMID:30586538)
• Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women. (PMID:32966694)
• SorCS3 promotes the internalization of p75(NTR) to inhibit GBM progression. (PMID:35393432)
• Cryo-EM structure studies of the human VPS10 domain-containing receptor SorCS3. (PMID:35940132)
• Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. (PMID:36702997)
• Independent Associated SNPs at SORCS3 and Its Protein Interactors for Multiple Brain-Related Disorders and Traits. (PMID:36833409)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sorcs3b	ENSDARG00000077349
danio_rerio	SORCS3	ENSDARG00000103535
mus_musculus	Sorcs3	ENSMUSG00000063434
rattus_norvegicus	Sorcs3	ENSRNOG00000028832

Paralogs (4): SORCS1 (ENSG00000108018), SORT1 (ENSG00000134243), SORL1 (ENSG00000137642), SORCS2 (ENSG00000184985)

Protein

Protein identifiers

VPS10 domain-containing receptor SorCS3 — Q9UPU3 (reviewed: Q9UPU3)

All UniProt accessions (2): Q9UPU3, Q5CAJ2

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in modulating synaptic transmission and plasticity in the hippocampus, probably by affecting the trafficking and localization ofAMPA-type glutamate receptors in the postsynaptic density.

Subunit / interactions. Homodimer. Interacts with NGF. Interacts with DLG4/PSD95 and PICK1.

Subcellular location. Cell membrane. Synaptic cell membrane. Postsynaptic density.

Tissue specificity. Highly expressed in brain.

Similarity. Belongs to the VPS10-related sortilin family. SORCS subfamily.

RefSeq proteins (1): NP_055793* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000601	PKD_dom	Domain
IPR006581	VPS10	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR031777	Sortilin_C	Domain
IPR031778	Sortilin_N	Domain
IPR035986	PKD_dom_sf	Homologous_superfamily
IPR050310	VPS10-sortilin	Family

Pfam: PF00801, PF15901, PF15902

UniProt features (34 total): glycosylation site 8, repeat 6, region of interest 6, disulfide bond 6, domain 2, topological domain 2, signal peptide 1, propeptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPU3-F1	75.70	0.42

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 (6): 541–546, 696–730, 713–745, 747–801, 754–766, 781–816

Glycosylation sites (8): 207, 456, 789, 800, 840, 932, 953, 1065

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 154 (showing top): GOBP_MEMORY, BENPORATH_ES_WITH_H3K27ME3, GOBP_COGNITION, GOBP_BEHAVIOR, PAX4_01, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_SYNAPTIC_PLASTICITY, GOBP_LONG_TERM_SYNAPTIC_DEPRESSION, GOBP_NEGATIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION, GOBP_LEARNING, AAAGACA_MIR511, HIF1_Q3, GOBP_SYNAPTIC_SIGNALING, GOMF_PEPTIDE_RECEPTOR_ACTIVITY, AACTTT_UNKNOWN

GO Biological Process (7): neuropeptide signaling pathway (GO:0007218), learning (GO:0007612), memory (GO:0007613), regulation of synaptic plasticity (GO:0048167), positive regulation of synaptic transmission (GO:0050806), postsynaptic modulation of chemical synaptic transmission (GO:0099170), regulation of long-term synaptic depression (GO:1900452)

GO Molecular Function (2): neuropeptide receptor activity (GO:0008188), protein binding (GO:0005515)

GO Cellular Component (7): plasma membrane (GO:0005886), membrane (GO:0016020), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), postsynaptic density (GO:0014069), synapse (GO:0045202), synaptic membrane (GO:0097060)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
modulation of chemical synaptic transmission	3
learning or memory	2
synapse	2
G protein-coupled receptor signaling pathway	1
regulation of biological quality	1
chemical synaptic transmission	1
positive regulation of cell communication	1
positive regulation of signaling	1
postsynapse	1
regulation of synaptic plasticity	1
long-term synaptic depression	1
neuropeptide signaling pathway	1
G protein-coupled peptide receptor activity	1
neuropeptide binding	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1
postsynaptic density	1
postsynaptic membrane	1
postsynaptic specialization membrane	1
asymmetric synapse	1
postsynaptic specialization	1
cell junction	1
plasma membrane region	1

Protein interactions and networks

STRING

1828 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SORCS3	PICK1	Q9NRD5	813
SORCS3	MRPL43	Q8N983	806
SORCS3	DLG4	P78352	765
SORCS3	PSRC1	Q6PGN9	669
SORCS3	CELSR2	Q9HCU4	649
SORCS3	NGF	P01138	603
SORCS3	CDH8	P55286	546
SORCS3	APP	P05067	514
SORCS3	CCDC175	P0C221	512
SORCS3	SORT1	Q99523	482
SORCS3	VPS35	Q96QK1	480
SORCS3	SLC39A12	Q504Y0	460
SORCS3	NEGR1	Q7Z3B1	445
SORCS3	VPS26A	O75436	426
SORCS3	SORL1	Q92673	412

IntAct

125 interactions, top by confidence:

A	B	Type	Score
SORCS3	PYGO2	psi-mi:“MI:0915”(physical association)	0.560
PYGO2	SORCS3	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	SORCS3	psi-mi:“MI:0915”(physical association)	0.560
SORCS3	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
MAST1	SORCS3	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	ARHGEF11	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	TAMALIN	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	APBA1	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	ARHGEF12	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	LNX2	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	TAX1BP3	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	HTRA4	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	GRID2IP	psi-mi:“MI:0407”(direct interaction)	0.440
PATJ	SORCS3	psi-mi:“MI:0407”(direct interaction)	0.440
DLG4	SORCS3	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
SORCS3	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (7): SORCS3 (Two-hybrid), SORCS3 (Affinity Capture-MS), NGFR (Affinity Capture-Western), SORCS3 (Affinity Capture-Western), SORCS3 (Cross-Linking-MS (XL-MS)), SORCS3 (Co-fractionation), SORCS3 (Co-fractionation)

ESM2 similar proteins: A2A699, A2BD09, A4IIT5, A5D7T4, A6QLD2, A8MVW0, O35764, O43278, O70624, O95502, O95897, P35054, P51693, Q03157, Q2PT31, Q3UPI1, Q3UZZ4, Q3V1G4, Q568Y7, Q594P2, Q5QQ37, Q66H86, Q68BL7, Q68BL8, Q6AYE5, Q6P7B4, Q6UWH4, Q6UWY5, Q6ZMI3, Q701R2, Q701R3, Q701R4, Q766D5, Q76KP1, Q80WL1, Q863A3, Q866N2, Q86VZ4, Q8BHP7, Q8BM13

Diamond homologs: Q8VI51, Q8WY21, Q96PQ0, Q9EPR5, Q9JLC4, Q9UPU3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 78 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
Ras activation upon Ca2+ influx through NMDA receptor	5	54.9×	1e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	52.3×	1e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	52.3×	1e-06
Assembly and cell surface presentation of NMDA receptors	10	48.8×	5e-13
Dopamine Neurotransmitter Release Cycle	5	47.7×	2e-06
Long-term potentiation	5	45.8×	2e-06
Neurexins and neuroligins	11	41.6×	3e-13
Protein-protein interactions at synapses	7	35.8×	6e-08

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	84.1×	1e-16
protein localization to synapse	6	60.5×	6e-08
receptor clustering	7	57.5×	6e-09
regulation of postsynaptic membrane neurotransmitter receptor levels	7	45.6×	2e-08
protein-containing complex assembly	9	13.5×	2e-06
cell-cell adhesion	9	12.0×	3e-06
chemical synaptic transmission	7	7.1×	2e-03
protein transport	8	4.6×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	177
Likely benign	10
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

4416 predictions. Top by Δscore:

Variant	Effect	Δscore
10:104641953:GC:G	donor_gain	1.0000
10:104757060:T:G	donor_gain	1.0000
10:104761449:G:GT	donor_gain	1.0000
10:104915825:A:AG	acceptor_gain	1.0000
10:104915825:ACCT:A	acceptor_gain	1.0000
10:104915826:C:G	acceptor_gain	1.0000
10:104915828:TGCA:T	acceptor_loss	1.0000
10:104915829:GCAG:G	acceptor_loss	1.0000
10:104915830:CA:C	acceptor_loss	1.0000
10:104915831:A:AG	acceptor_gain	1.0000
10:104915831:A:T	acceptor_loss	1.0000
10:104915831:AG:A	acceptor_gain	1.0000
10:104915832:G:GT	acceptor_gain	1.0000
10:104915832:GG:G	acceptor_gain	1.0000
10:104915832:GGTC:G	acceptor_gain	1.0000
10:104915928:GGAAG:G	donor_gain	1.0000
10:104915929:G:GT	donor_gain	1.0000
10:104915929:GAAG:G	donor_gain	1.0000
10:104915930:A:T	donor_gain	1.0000
10:104915932:GGTAA:G	donor_loss	1.0000
10:104915933:G:A	donor_loss	1.0000
10:104915934:T:G	donor_loss	1.0000
10:104977332:TA:T	acceptor_loss	1.0000
10:104977332:TAGA:T	acceptor_gain	1.0000
10:104977333:A:AG	acceptor_gain	1.0000
10:104977334:G:GA	acceptor_gain	1.0000
10:104977334:GA:G	acceptor_gain	1.0000
10:104977334:GAT:G	acceptor_gain	1.0000
10:104977334:GATT:G	acceptor_gain	1.0000
10:104977334:GATTA:G	acceptor_gain	1.0000

AlphaMissense

7999 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:104842799:T:C	L212P	1.000
10:104842805:T:C	L214P	1.000
10:104842846:A:C	S228R	1.000
10:104842848:T:A	S228R	1.000
10:104842848:T:G	S228R	1.000
10:104915834:T:C	S233P	1.000
10:104977380:A:C	S281R	1.000
10:104977382:C:A	S281R	1.000
10:104977382:C:G	S281R	1.000
10:105043085:T:A	W329R	1.000
10:105043085:T:C	W329R	1.000
10:105157225:T:A	W524R	1.000
10:105157225:T:C	W524R	1.000
10:105157227:G:C	W524C	1.000
10:105157227:G:T	W524C	1.000
10:105164371:T:A	W601R	1.000
10:105164371:T:C	W601R	1.000
10:105178093:G:C	W643C	1.000
10:105178093:G:T	W643C	1.000
10:105200030:T:A	W681R	1.000
10:105200030:T:C	W681R	1.000
10:105200032:G:C	W681C	1.000
10:105200032:G:T	W681C	1.000
10:105245609:T:A	V979D	1.000
10:104842853:T:C	L230P	0.999
10:104842855:T:A	W231R	0.999
10:104842855:T:C	W231R	0.999
10:104842857:G:C	W231C	0.999
10:104842857:G:T	W231C	0.999
10:104915835:C:G	S233W	0.999

dbSNP variants (sampled 300 via entrez): RS1000006720 (10:105113665 G>A), RS1000009117 (10:105100821 C>T), RS1000010385 (10:104956188 T>C), RS1000011593 (10:104661190 T>G), RS1000012238 (10:104871913 T>A), RS1000019413 (10:104714620 T>G), RS1000020523 (10:105204059 T>G), RS1000021088 (10:104788942 T>G), RS1000023267 (10:104791161 A>G), RS1000023281 (10:105018168 A>G), RS1000024159 (10:104976044 G>T), RS1000025861 (10:104965512 C>T), RS1000034180 (10:104701629 T>C), RS1000034461 (10:105059749 G>A), RS1000036301 (10:104802641 G>A)

Disease associations

OMIM: gene MIM:606285 | 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

33 associations (top):

Study	Trait	p-value
GCST003098_3	Diabetic kidney disease	4.000000e-06
GCST004526_4	Subclinical trait of interstitial lung disease (basilar percentage of high attenuation areas on CT scan)	4.000000e-08
GCST005141_72	Cognitive ability (MTAG)	1.000000e-08
GCST005142_31	Cognitive ability	8.000000e-07
GCST005316_353	Intelligence (MTAG)	2.000000e-08
GCST005790_19	Rosacea symptom severity	2.000000e-06
GCST005839_42	Depression	7.000000e-10
GCST006041_8	Major depressive disorder	8.000000e-09
GCST006627_91	Diastolic blood pressure	5.000000e-18
GCST006943_46	Feeling miserable	2.000000e-12
GCST006943_47	Feeling miserable	3.000000e-08
GCST007267_78	Systolic blood pressure	3.000000e-10
GCST007325_193	General risk tolerance (MTAG)	2.000000e-08
GCST007543_2	Attention deficit hyperactivity disorder	4.000000e-09
GCST007709_278	General factor of neuroticism	7.000000e-09
GCST007709_279	General factor of neuroticism	7.000000e-09
GCST007709_280	General factor of neuroticism	7.000000e-09
GCST007928_8	Medication use (diuretics)	9.000000e-11
GCST007929_22	Medication use (calcium channel blockers)	3.000000e-14
GCST008357_7	Mood instability	5.000000e-10
GCST008471_9	Non-alcoholic fatty liver disease activity score in non-alcoholic fatty liver disease	6.000000e-06
GCST008512_28	Multisite chronic pain	3.000000e-08
GCST008595_146	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	7.000000e-09
GCST009391_564	Metabolite levels	2.000000e-06
GCST009600_130	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	8.000000e-15
GCST009600_85	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	4.000000e-10
GCST011769_20	Schizophrenia	4.000000e-09
GCST012332_29	Multisite chronic pain	3.000000e-08
GCST012355_2	Depression	2.000000e-18
GCST012355_3	Depression	2.000000e-18

EFO canonical traits (17, from GWAS)

EFO ID	Trait name
EFO:0007627	airway imaging measurement
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0009180	rosacea severity measurement
EFO:0006336	diastolic blood pressure
EFO:0009598	feeling miserable measurement
EFO:0006335	systolic blood pressure
EFO:0008579	risk-taking behaviour
EFO:0007660	neuroticism measurement
EFO:0009928	Diuretic use measurement
EFO:0009930	Calcium channel blocker use measurement
EFO:0008475	mood instability measurement
EFO:0008421	non-alcoholic fatty liver disease severity measurement
EFO:0010100	multisite chronic pain
EFO:0010498	hydroxyproline measurement
EFO:0009749	age at first sexual intercourse measurement
EFO:0009101	age at first birth measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
tungsten carbide	affects expression	1
ethyl-p-hydroxybenzoate	increases expression	1
arsenite	increases methylation	1
cobaltous chloride	increases expression	1
pentanal	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
MRK 003	decreases expression	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Triclosan	decreases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	increases 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