DSCAML1

Summary

DSCAML1 (DS cell adhesion molecule like 1, HGNC:14656) is a protein-coding gene on chromosome 11q23.3, encoding Cell adhesion molecule DSCAML1 (Q8TD84). Cell adhesion molecule that plays a role in neuronal self-avoidance.

The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type.

Source: NCBI Gene 57453 — RefSeq curated summary.

At a glance

• Gene–disease (curated): retinal disorder (Limited, GenCC) — +3 more curated relationships
• GWAS associations: 11
• Clinical variants (ClinVar): 1,566 total
• MANE Select transcript: NM_020693

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14656
Approved symbol	DSCAML1
Name	DS cell adhesion molecule like 1
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1132
Ensembl gene	ENSG00000177103
Ensembl biotype	protein_coding
OMIM	611782
Entrez	57453

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000321322, ENST00000525836, ENST00000527706, ENST00000651172, ENST00000651296

RefSeq mRNA: 1 — MANE Select: NM_020693 NM_020693

CCDS: CCDS8384

Canonical transcript exons

ENST00000651296 — 33 exons

Exon	Start	End
ENSE00001222904	117776791	117776937
ENSE00001289796	117521130	117521405
ENSE00001290232	117432352	117432504
ENSE00001292062	117503845	117504021
ENSE00001293542	117532376	117532522
ENSE00001295394	117435644	117435799
ENSE00001295733	117471869	117472036
ENSE00001296037	117516467	117516739
ENSE00001296531	117430722	117431033
ENSE00001296585	117458754	117458909
ENSE00001299426	117481174	117481270
ENSE00001301891	117438885	117438983
ENSE00001301971	117504924	117505043
ENSE00001302620	117469910	117469980
ENSE00001310259	117481963	117482162
ENSE00001312362	117431534	117431728
ENSE00001312805	117518466	117518762
ENSE00001315482	117437122	117437409
ENSE00001315709	117439819	117439936
ENSE00001316740	117480443	117480571
ENSE00001319630	117505454	117505732
ENSE00001319813	117450549	117450688
ENSE00001322594	117464942	117465182
ENSE00001323529	117443886	117444039
ENSE00001326216	117437895	117438083
ENSE00001327286	117433138	117433256
ENSE00001327533	117524805	117525083
ENSE00001329979	117461450	117461596
ENSE00001330425	117439266	117439429
ENSE00002474130	117433441	117433471
ENSE00003646627	117780493	117780810
ENSE00003850020	117797034	117797216
ENSE00003892155	117427772	117428803

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 86.72.

FANTOM5 (CAGE): breadth broad, TPM avg 2.4349 / max 190.0996, expressed in 292 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122496	2.1070	183
122501	0.1711	76
122500	0.1388	67
122497	0.0180	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	86.72	gold quality
germinal epithelium of ovary	UBERON:0001304	81.03	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	79.94	gold quality
postcentral gyrus	UBERON:0002581	78.89	gold quality
spinal cord	UBERON:0002240	78.70	gold quality
entorhinal cortex	UBERON:0002728	78.31	gold quality
prefrontal cortex	UBERON:0000451	77.91	gold quality
Ammon’s horn	UBERON:0001954	76.68	gold quality
parietal lobe	UBERON:0001872	76.64	gold quality
frontal cortex	UBERON:0001870	75.90	gold quality
corpus callosum	UBERON:0002336	75.74	gold quality
ganglionic eminence	UBERON:0004023	75.46	gold quality
neocortex	UBERON:0001950	75.39	gold quality
Brodmann (1909) area 46	UBERON:0006483	75.19	gold quality
cerebral cortex	UBERON:0000956	75.07	gold quality
superior frontal gyrus	UBERON:0002661	74.65	gold quality
right frontal lobe	UBERON:0002810	74.52	gold quality
temporal lobe	UBERON:0001871	74.26	gold quality
putamen	UBERON:0001874	74.26	gold quality
metanephros cortex	UBERON:0010533	74.00	gold quality
caudate nucleus	UBERON:0001873	73.92	gold quality
substantia nigra	UBERON:0002038	73.80	gold quality
forebrain	UBERON:0001890	73.72	gold quality
Brodmann (1909) area 9	UBERON:0013540	73.67	gold quality
anterior cingulate cortex	UBERON:0009835	73.54	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	73.00	gold quality
amygdala	UBERON:0001876	72.96	gold quality
midbrain	UBERON:0001891	72.92	gold quality
nucleus accumbens	UBERON:0001882	72.89	gold quality
brain	UBERON:0000955	72.67	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	1586.86
E-ANND-3	yes	3.04

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

111 targeting DSCAML1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
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-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4779	99.86	66.50	1583

Literature-anchored findings (GeneRIF, showing 3)

• in all transgenic retinal cell types examined, both DSCAM and DSCAM-LIKE1 genes are functioning similarly in self-avoidance, whereas the stratification of neurites and synaptic specificity are intact in their absence. (PMID:19945391)
• DSCAML1 protein rs680730 SNP is associated with poor sperm morphology. (PMID:24271036)
• Potential involvement of DSCAML1 mutations in neurodevelopmental disorders. (PMID:33501714)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dscaml1	ENSDARG00000098057
mus_musculus	Dscaml1	ENSMUSG00000032087
rattus_norvegicus	Dscaml1	ENSRNOG00000016502

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), BOC (ENSG00000144857), 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), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)

Protein

Protein identifiers

Cell adhesion molecule DSCAML1 — Q8TD84 (reviewed: Q8TD84)

Alternative names: Down syndrome cell adhesion molecule 2, Down syndrome cell adhesion molecule-like protein 1

All UniProt accessions (3): Q8TD84, A0A384DVL8, E9PP71

UniProt curated annotations — full annotation on UniProt →

Function. Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Promotes both isoneuronal self-avoidance for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to maintain mosaic spacing between AII amacrine cells. Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions.

Subunit / interactions. Homodimer; mediates homophilic interactions to promote cell adhesion.

Subcellular location. Cell membrane. Synapse.

Tissue specificity. Detected in heart, liver, pancreas, skeletal muscle, kidney and in brain, in particular in the amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra, thalamus and subthalamus.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TD84-1	1, 1a	yes
Q8TD84-2	2, 1b

RefSeq proteins (1): NP_065744* (*=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
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR056754	DSCAM/DSCAML_C	Domain

Pfam: PF00041, PF07679, PF13927, PF25059

UniProt features (73 total): glycosylation site 20, domain 16, disulfide bond 10, sequence conflict 6, strand 5, region of interest 4, compositionally biased region 4, topological domain 2, sequence variant 2, signal peptide 1, chain 1, transmembrane region 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1VA9	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TD84-F1	69.92	0.07

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 (10): 47–103, 146–198, 247–294, 336–386, 429–485, 526–575, 617–669, 711–767, 810–867, 1311–1363

Glycosylation sites (20): 29, 79, 368, 471, 513, 556, 666, 710, 749, 796, 809, 926, 1082, 1144, 1162, 1275, 1345, 1492, 1531, 1561

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-376172	DSCAM interactions

MSigDB gene sets: 156 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_NEURON_RECOGNITION, BENPORATH_ES_WITH_H3K27ME3, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, AREB6_03, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_DN, GOCC_CELL_SURFACE, GOBP_NEUROGENESIS, AAAYRNCTG_UNKNOWN, GOBP_DORSAL_VENTRAL_PATTERN_FORMATION, GOBP_CELL_CELL_ADHESION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS

GO Biological Process (11): cell fate determination (GO:0001709), homophilic cell-cell adhesion (GO:0007156), axonogenesis (GO:0007409), axon guidance (GO:0007411), central nervous system development (GO:0007417), brain development (GO:0007420), dorsal/ventral pattern formation (GO:0009953), embryonic skeletal system morphogenesis (GO:0048704), dendrite self-avoidance (GO:0070593), cell adhesion (GO:0007155), nervous system development (GO:0007399)

GO Molecular Function (3): protein homodimerization activity (GO:0042803), cell-cell adhesion mediator activity (GO:0098632), protein binding (GO:0005515)

GO Cellular Component (6): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), cell surface (GO:0009986), axon (GO:0030424), synapse (GO:0045202), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Netrin-1 signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell adhesion	2
system development	2
cellular anatomical structure	2
cell fate commitment	1
cellular developmental process	1
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
axon development	1
axonogenesis	1
neuron projection guidance	1
nervous system development	1
central nervous system development	1
animal organ development	1
head development	1
regionalization	1
embryonic organ morphogenesis	1
skeletal system morphogenesis	1
embryonic skeletal system development	1
neuron recognition	1
cellular process	1
identical protein binding	1
protein dimerization activity	1
cell adhesion mediator activity	1
binding	1
membrane	1
cell periphery	1
neuron projection	1
cell junction	1

Protein interactions and networks

STRING

1910 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DSCAML1	APOA5	Q6Q788	720
DSCAML1	SDK2	Q58EX2	669
DSCAML1	DLG4	P78352	604
DSCAML1	APOC3	P02656	554
DSCAML1	CPA1	P15085	551
DSCAML1	APOA4	P06727	548
DSCAML1	NTN1	O95631	498
DSCAML1	DLG2	Q15700	491
DSCAML1	DOCK1	Q14185	490
DSCAML1	RELN	P78509	448
DSCAML1	LAMB1	P07942	440
DSCAML1	RAB8A	P24407	436
DSCAML1	MYOF	Q9NZM1	428
DSCAML1	APOA1	P02647	424
DSCAML1	PLXNA4	Q9HCM2	419

IntAct

10 interactions, top by confidence:

A	B	Type	Score
DSCAML1	PTPRM	psi-mi:“MI:0915”(physical association)	0.540
DSCAML1	PTPRT	psi-mi:“MI:0915”(physical association)	0.540
PTPRM	DSCAML1	psi-mi:“MI:0407”(direct interaction)	0.540
DSCAML1	PTPRT	psi-mi:“MI:0407”(direct interaction)	0.540
DSCAML1	PTPRK	psi-mi:“MI:0915”(physical association)	0.400
DSCAML1	MAGI2	psi-mi:“MI:0915”(physical association)	0.370
DSCAML1	PLCL2	psi-mi:“MI:0915”(physical association)	0.370
DSCAML1	MAGI3	psi-mi:“MI:0915”(physical association)	0.370
DYRK1A	DSCAML1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): DSCAML1 (Affinity Capture-MS), DSCAML1 (Affinity Capture-RNA), DSCAML1 (Affinity Capture-MS), DSCAML1 (Two-hybrid), DSCAML1 (Cross-Linking-MS (XL-MS)), DSCAML1 (Affinity Capture-MS), MAGI2 (Two-hybrid), PLCL2 (Two-hybrid), MAGI3 (Two-hybrid)

ESM2 similar proteins: A4IFW2, E1C8P7, F1NY98, O00533, O35158, O42414, O55005, O60469, O89026, O94856, O97394, P11627, P12960, P14781, P15364, P20241, P22063, P23468, P28685, P32004, P35331, P70232, P97686, Q02246, Q05695, Q12860, Q28106, Q32MD9, Q3UH53, Q4KMG0, Q4VA61, Q58EX2, Q61330, Q63198, Q64487, Q6V4S5, Q7Z5N4, Q810U3, Q810U4, Q8AV57

Diamond homologs: A6NGN9, B3MKS0, B3N666, B4GBH0, B4GKZ8, B4HY03, B4JEF2, B4KJW1, B4LRN7, B4N072, B4NZY8, B4Q599, O00533, P16170, Q290N5, Q29JX6, Q4VA61, Q8HW98, Q8TD84, Q98892, Q9VM64, A1KZ92, A8WGA3, B3NS99, D3YXG0, E1C8P7, O15146, P0C7J6, P25033, Q05695, Q05BQ1, Q1HLC0, Q2WF71, Q3URE9, Q4KMG0, Q6WRI0, Q7L985, Q86TC9, Q8NDA2, Q90478

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
gamma-secretase	“down-regulates quantity”	DSCAML1	cleavage
IPO5	“up-regulates activity”	DSCAML1	relocalization
DSCAML1	down-regulates	Neurite_outgrowth
DSCAML1	“up-regulates activity”	STAT3	binding
DSCAML1	“up-regulates activity”	AQP9	binding
DSCAML1	down-regulates	Synaptic_plasticity

Disease & clinical

Clinical variants and AI predictions

ClinVar

1566 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	862
Likely benign	621
Benign	62

Top pathogenic / likely-pathogenic (0)

SpliceAI

6787 predictions. Top by Δscore:

Variant	Effect	Δscore
11:117428799:GTCAC:G	acceptor_gain	1.0000
11:117428800:TCAC:T	acceptor_gain	1.0000
11:117428801:CAC:C	acceptor_gain	1.0000
11:117428801:CACC:C	acceptor_gain	1.0000
11:117428802:AC:A	acceptor_gain	1.0000
11:117428803:CC:C	acceptor_gain	1.0000
11:117428804:C:CC	acceptor_gain	1.0000
11:117428804:CTG:C	acceptor_loss	1.0000
11:117428805:T:A	acceptor_loss	1.0000
11:117428811:C:CT	acceptor_gain	1.0000
11:117430718:TCACT:T	donor_loss	1.0000
11:117430719:CAC:C	donor_loss	1.0000
11:117430720:A:AC	donor_gain	1.0000
11:117430720:ACT:A	donor_gain	1.0000
11:117430721:C:A	donor_loss	1.0000
11:117430721:C:CG	donor_gain	1.0000
11:117430721:CT:C	donor_gain	1.0000
11:117430721:CTC:C	donor_gain	1.0000
11:117430721:CTCT:C	donor_gain	1.0000
11:117430721:CTCTT:C	donor_gain	1.0000
11:117430775:T:TA	donor_gain	1.0000
11:117431029:TTTGT:T	acceptor_gain	1.0000
11:117431030:TTGT:T	acceptor_gain	1.0000
11:117431031:TGT:T	acceptor_gain	1.0000
11:117431032:GT:G	acceptor_gain	1.0000
11:117431034:C:CC	acceptor_gain	1.0000
11:117431042:T:C	acceptor_gain	1.0000
11:117431042:T:TC	acceptor_gain	1.0000
11:117431529:CACA:C	donor_loss	1.0000
11:117431530:ACACC:A	donor_loss	1.0000

AlphaMissense

13431 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:117437950:G:C	N1459K	1.000
11:117437950:G:T	N1459K	1.000
11:117439830:C:A	W1323C	1.000
11:117439830:C:G	W1323C	1.000
11:117439832:A:G	W1323R	1.000
11:117439832:A:T	W1323R	1.000
11:117450626:A:G	W1211R	1.000
11:117450626:A:T	W1211R	1.000
11:117469915:A:G	W1007R	1.000
11:117469915:A:T	W1007R	1.000
11:117471940:C:G	R961P	1.000
11:117480509:A:G	W907R	1.000
11:117480509:A:T	W907R	1.000
11:117481217:G:C	N871K	1.000
11:117481217:G:T	N871K	1.000
11:117482056:C:A	W822C	1.000
11:117482056:C:G	W822C	1.000
11:117482057:C:G	W822S	1.000
11:117482058:A:G	W822R	1.000
11:117482058:A:T	W822R	1.000
11:117504937:C:A	W723C	1.000
11:117504937:C:G	W723C	1.000
11:117504939:A:G	W723R	1.000
11:117504939:A:T	W723R	1.000
11:117505511:A:G	C669R	1.000
11:117505626:C:A	W630C	1.000
11:117505626:C:G	W630C	1.000
11:117505628:A:G	W630R	1.000
11:117505628:A:T	W630R	1.000
11:117516525:G:C	C575W	1.000

dbSNP variants (sampled 300 via entrez): RS1000007282 (11:117622844 G>A,T), RS1000009083 (11:117436347 G>A,C), RS1000017814 (11:117437371 T>C), RS1000019108 (11:117775513 G>A), RS1000023642 (11:117774362 C>A,T), RS1000062619 (11:117698211 T>C), RS1000065796 (11:117466140 T>C), RS1000071754 (11:117669088 T>A), RS1000077793 (11:117740708 C>A,G,T), RS1000085935 (11:117585240 G>C,T), RS1000091292 (11:117480482 T>A), RS1000092349 (11:117729981 A>G), RS1000100484 (11:117543969 G>T), RS1000113334 (11:117697592 C>T), RS1000131414 (11:117575819 C>G)

Disease associations

OMIM: gene MIM:611782 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
retinal disorder	Limited	Autosomal recessive
motor neuron disorder	Limited	Autosomal recessive
complex neurodevelopmental disorder	Limited	Autosomal dominant
retinitis pigmentosa	Limited	Autosomal recessive

Mondo (6): intellectual disability (MONDO:0001071), prostate cancer (MONDO:0008315), retinal disorder (MONDO:0005283), motor neuron disorder (MONDO:0020128), complex neurodevelopmental disorder (MONDO:0100038), retinitis pigmentosa (MONDO:0019200)

Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST000300_1	Triglycerides	3.000000e-29
GCST001973_11	Menarche (age at onset)	3.000000e-06
GCST002746_1	Lipoprotein (a) - cholesterol levels	5.000000e-09
GCST003997_18	Myopia	1.000000e-11
GCST004550_4	Triglyceride levels	3.000000e-11
GCST004759_1	Very low density lipoprotein cholesterol levels	3.000000e-11
GCST005083_3	Putamen volume	4.000000e-07
GCST006291_26	Spherical equivalent or myopia (age of diagnosis)	6.000000e-14
GCST006613_148	Triglycerides	2.000000e-14
GCST006993_11	Hippocampal volume in Alzheimer’s disease dementia	1.000000e-07
GCST010002_199	Refractive error	3.000000e-34

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004703	age at menarche
EFO:0006925	lipoprotein A measurement
EFO:0004847	age at onset
EFO:0005035	hippocampal volume

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D016472	Motor Neuron Disease	C10.574.562; C10.668.467
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
D012164	Retinal Diseases	C11.768
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases methylation	3
bisphenol A	affects cotreatment, decreases methylation, increases expression	2
Valproic Acid	affects expression, increases methylation	2
Aflatoxin B1	affects methylation, increases methylation	2
aristolochic acid I	decreases expression	1
propionaldehyde	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
1,6-hexamethylene diisocyanate	increases methylation	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
pentanal	decreases expression	1
CGP 52608	affects binding, increases reaction	1
theaflavin-3,3’-digallate	affects expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Aldehydes	decreases expression	1
Cadmium	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Methapyrilene	increases methylation	1
Silicon Dioxide	decreases expression	1
Silver	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01955135	PHASE4	COMPLETED	Anesthesia for Retinopathy of Prematurity
NCT04997954	PHASE4	UNKNOWN	EMERALD TRIAL Open Label Extension Study
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
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
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy