CNTN5

Summary

CNTN5 (contactin 5, HGNC:2175) is a protein-coding gene on chromosome 11q22.1, encoding Contactin-5 (O94779). Contactins mediate cell surface interactions during nervous system development.

The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Source: NCBI Gene 53942 — RefSeq curated summary.

At a glance

• GWAS associations: 32
• Clinical variants (ClinVar): 259 total — 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_014361

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2175
Approved symbol	CNTN5
Name	contactin 5
Location	11q22.1
Locus type	gene with protein product
Status	Approved
Aliases	NB-2, hNB-2
Ensembl gene	ENSG00000149972
Ensembl biotype	protein_coding
OMIM	607219
Entrez	53942

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000279463, ENST00000418526, ENST00000524560, ENST00000524871, ENST00000525047, ENST00000525236, ENST00000527185, ENST00000527682, ENST00000528682, ENST00000528727, ENST00000530458

RefSeq mRNA: 4 — MANE Select: NM_014361 NM_001243270, NM_001243271, NM_014361, NM_175566

CCDS: CCDS53696, CCDS53697, CCDS58168

Canonical transcript exons

ENST00000524871 — 25 exons

Exon	Start	End
ENSE00001097873	100224692	100224812
ENSE00002167314	99325346	99325484
ENSE00002173698	100356117	100358885
ENSE00003459621	100297625	100297695
ENSE00003463914	100002034	100002136
ENSE00003465988	100255760	100255918
ENSE00003468680	99916054	99916149
ENSE00003488021	100061212	100061393
ENSE00003498332	99819544	99819765
ENSE00003516833	100071705	100071834
ENSE00003525526	100191126	100191253
ENSE00003526484	100350702	100350870
ENSE00003530703	100340463	100340649
ENSE00003537640	100271092	100271241
ENSE00003561712	99556145	99556269
ENSE00003602164	100341093	100341205
ENSE00003625647	99956806	99957009
ENSE00003631394	100070424	100070560
ENSE00003640343	100299162	100299396
ENSE00003655345	100193488	100193663
ENSE00003655966	99844852	99844975
ENSE00003657665	100074144	100074294
ENSE00003659438	100308359	100308468
ENSE00003669396	99845087	99845262
ENSE00003844255	99020949	99021270

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 93.06.

FANTOM5 (CAGE): breadth broad, TPM avg 1.1160 / max 114.8289, expressed in 208 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116354	0.4413	141
116353	0.4331	142
116357	0.1031	18
116355	0.0804	36
116352	0.0581	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	93.06	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.13	gold quality
islet of Langerhans	UBERON:0000006	75.03	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.82	gold quality
primary visual cortex	UBERON:0002436	71.68	gold quality
prefrontal cortex	UBERON:0000451	70.22	gold quality
cortical plate	UBERON:0005343	68.76	gold quality
Brodmann (1909) area 23	UBERON:0013554	67.05	silver quality
middle temporal gyrus	UBERON:0002771	66.32	silver quality
cingulate cortex	UBERON:0003027	66.10	gold quality
anterior cingulate cortex	UBERON:0009835	65.87	gold quality
stromal cell of endometrium	CL:0002255	65.77	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	65.57	gold quality
occipital lobe	UBERON:0002021	65.27	gold quality
amygdala	UBERON:0001876	65.08	gold quality
Brodmann (1909) area 9	UBERON:0013540	65.08	gold quality
neocortex	UBERON:0001950	64.51	gold quality
ganglionic eminence	UBERON:0004023	64.30	gold quality
frontal cortex	UBERON:0001870	64.11	gold quality
temporal lobe	UBERON:0001871	63.20	gold quality
right frontal lobe	UBERON:0002810	63.17	gold quality
left lobe of thyroid gland	UBERON:0001120	62.43	gold quality
cerebral cortex	UBERON:0000956	62.41	gold quality
thyroid gland	UBERON:0002046	61.89	gold quality
entorhinal cortex	UBERON:0002728	61.80	silver quality
corpus callosum	UBERON:0002336	61.26	gold quality
buccal mucosa cell	CL:0002336	61.23	gold quality
bronchial epithelial cell	CL:0002328	60.78	gold quality
right uterine tube	UBERON:0001302	60.47	gold quality
endothelial cell	CL:0000115	60.14	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	6038.86
E-HCAD-25	yes	5547.16
E-HCAD-35	yes	5468.73
E-ANND-3	yes	6.00
E-HCAD-30	no	2378.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

157 targeting CNTN5, 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-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3162-3P	100.00	65.37	363
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-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-1468-3P	99.96	72.74	3797

Literature-anchored findings (GeneRIF, showing 5)

• This study shown that established and candidate AD genes have a role in 6 neuroimaging traits linked to AD. 2 promising genes from Alzheimer disease GWASs, CNTN5 and BIN1, are associated with these neuroimaging measures. (PMID:20558387)
• rs1568885 and rs1813443, but not rs4411591 polymorphisms are associated with clinical and biochemical response to infliximab in Greek patients with Crohn’s disease (PMID:24707144)
• The most compelling new results revealed a consistent spontaneous network hyperactivity in neurons deficient for CNTN5 or EHMT2. (PMID:30747104)
• The present study revealed three gout specific loci, CNTN5, MIR302F, ZNF724, to be clearly associated with mechanisms of gout development, which distinctly differ from the known gout risk loci that basically elevate serum uric acid level. This meta-analysis is the first to reveal the loci associated with crystal-induced inflammation, the last step in gout development that aggravates asymptomatic hyperuricaemia into gout. (PMID:31289104)
• Characterization of the contactin 5 protein and its risk-associated polymorphic variant throughout the Alzheimer’s disease spectrum. (PMID:36583624)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cntn5	ENSDARG00000021584
mus_musculus	Cntn5	ENSMUSG00000039488
rattus_norvegicus	Cntn5	ENSRNOG00000007038

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), 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

Contactin-5 — O94779 (reviewed: O94779)

Alternative names: Neural recognition molecule NB-2

All UniProt accessions (2): O94779, A0A0A0MQX5

UniProt curated annotations — full annotation on UniProt →

Function. Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system.

Subunit / interactions. Interacts with PTPRG.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in brain and kidney and at very low level in placenta. Not expressed in other tissues. In brain, it is highly expressed in the occipital lobe, amygdala, cerebral cortex, frontal lobe, thalamus and temporal lobe. Expressed at moderate level in the cerebellum, substantia nigra, putamen, medulla and hippocampus. Weakly expressed in the spinal cord and caudate nucleus. Weakly or not expressed in the corpus callosum.

Similarity. Belongs to the immunoglobulin superfamily. Contactin family.

Isoforms (3)

UniProt ID	Names	Canonical?
O94779-1	1, Long	yes
O94779-2	2, Short, HNB-2s
O94779-4	3

RefSeq proteins (4): NP_001230199, NP_001230200, NP_055176, NP_780775 (=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

UniProt features (68 total): strand 25, domain 10, glycosylation site 9, sequence variant 7, disulfide bond 6, helix 3, splice variant 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, lipid moiety-binding region 1, propeptide 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4N68	X-RAY DIFFRACTION	1.8
5E52	X-RAY DIFFRACTION	2.69

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94779-F1	82.99	0.52

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 (1): 1072

Disulfide bonds (6): 123–173, 217–269, 322–369, 411–458, 503–551, 593–650

Glycosylation sites (9): 138, 196, 397, 449, 540, 779, 816, 931, 1002

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins

MSigDB gene sets: 117 (showing top): GOBP_SYNAPSE_ASSEMBLY, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, chr11q22, GOBP_NEUROGENESIS, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, MODULE_99, ZHAN_MULTIPLE_MYELOMA_HP_UP, GOBP_HEAD_DEVELOPMENT, GOBP_SENSORY_PERCEPTION, GOBP_CELL_JUNCTION_ASSEMBLY, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, TGGAAA_NFAT_Q4_01, GOCC_SYNAPSE

GO Biological Process (6): axon guidance (GO:0007411), brain development (GO:0007420), sensory perception of sound (GO:0007605), cell-cell adhesion (GO:0098609), presynapse assembly (GO:0099054), cell adhesion (GO:0007155)

GO Molecular Function (2): cell-cell adhesion mediator activity (GO:0098632), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), plasma membrane (GO:0005886), axon (GO:0030424), presynaptic membrane (GO:0042734), side of membrane (GO:0098552), GABA-ergic synapse (GO:0098982), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
membrane	2
axonogenesis	1
neuron projection guidance	1
central nervous system development	1
animal organ development	1
head development	1
sensory perception of mechanical stimulus	1
cell adhesion	1
synapse assembly	1
cellular component assembly	1
presynapse organization	1
cellular process	1
cell-cell adhesion	1
cell adhesion mediator activity	1
binding	1
cell periphery	1
neuron projection	1
synaptic membrane	1
presynapse	1
leaflet of membrane bilayer	1
synapse	1

Protein interactions and networks

STRING

1478 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CNTN5	CNTNAP4	Q9C0A0	955
CNTN5	CD177	Q8N6Q3	910
CNTN5	NRCAM	Q92823	870
CNTN5	APLP1	P51693	832
CNTN5	JRKL	Q9Y4A0	689
CNTN5	CHL1	O00533	503
CNTN5	OR52N1	Q8NH53	495
CNTN5	OR52N5	Q8NH56	491
CNTN5	KIRREL3	Q8IZU9	488
CNTN5	CNTNAP2	Q9UHC6	483
CNTN5	CNTNAP5	Q8WYK1	471
CNTN5	PTPRG	P23470	455
CNTN5	TMEM47	Q9BQJ4	446
CNTN5	OVCH2	Q7RTZ1	438
CNTN5	FAM110C	Q1W6H9	437

IntAct

10 interactions, top by confidence:

A	B	Type	Score
APLP1	CNTN5	psi-mi:“MI:0407”(direct interaction)	0.440
CNTN5	ACAD11	psi-mi:“MI:0915”(physical association)	0.400
CNTN5	FAM187A	psi-mi:“MI:0915”(physical association)	0.400
CNTN5	FSTL5	psi-mi:“MI:0915”(physical association)	0.400
CNTN5	CHL1	psi-mi:“MI:0915”(physical association)	0.400
CNTN5	SPACA6	psi-mi:“MI:0915”(physical association)	0.400
CNTN5	SLAMF1	psi-mi:“MI:0915”(physical association)	0.400
CNTN5	TMEM81	psi-mi:“MI:0915”(physical association)	0.400
MYC		psi-mi:“MI:0914”(association)	0.350

BioGRID (2): ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS)

ESM2 similar proteins: A4IGL7, D3ZB51, E9PZ19, O75882, O94779, O95970, P00533, P02469, P07942, P13590, P15209, P24503, P24786, P33150, P39038, P55245, P55283, P68500, P97300, P97527, P97546, Q01279, Q01973, Q03351, Q16288, Q16620, Q1EGL2, Q3B7N0, Q3UQ28, Q5IFJ9, Q5IS37, Q5IS82, Q5R945, Q63604, Q6IS24, Q6VNS1, Q7TPD3, Q7TT15, Q8K4Y5, Q8N475

Diamond homologs: A2ASQ1, A2ASS6, A3KN33, A8DYP0, B4F785, O00468, O35474, O43854, O55005, O88516, O89026, O94779, P00740, P25304, P29294, P35590, Q05793, Q06561, Q16787, Q4LDE5, Q4VBE4, Q5R7K9, Q5RBN1, Q63HQ2, Q7TPD3, Q8N9C0, Q8TER0, Q8WZ42, Q95ND7, Q96MS0, Q9HCK4, Q9NYJ7, Q9NYQ8, Q9Y2H6, Q9Y6N7, Q9Z2I4, A0A1Y9G8H0, A0A452E9Y6, A1KZ92, A2A8L5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	187
Likely benign	18
Benign	15

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
545153	NC_000011.10:g.(?96535656)(99184810_?)del	Likely pathogenic

SpliceAI

3989 predictions. Top by Δscore:

Variant	Effect	Δscore
11:99321107:G:GT	donor_gain	1.0000
11:99325343:CAGGT:C	acceptor_loss	1.0000
11:99325345:GGT:G	acceptor_gain	1.0000
11:99325481:GCAG:G	donor_gain	1.0000
11:99464202:G:T	donor_gain	1.0000
11:99021271:G:GG	donor_gain	0.9900
11:99049711:T:G	donor_gain	0.9900
11:99126533:T:TA	acceptor_gain	0.9900
11:99203309:G:GT	donor_gain	0.9900
11:99204667:C:CG	donor_gain	0.9900
11:99204667:C:G	donor_gain	0.9900
11:99274490:AATGT:A	donor_gain	0.9900
11:99325344:A:AG	acceptor_gain	0.9900
11:99325345:G:GG	acceptor_gain	0.9900
11:99325482:CAGG:C	donor_loss	0.9900
11:99325483:AGGT:A	donor_loss	0.9900
11:99325484:GGTAT:G	donor_loss	0.9900
11:99325485:G:GC	donor_loss	0.9900
11:99325486:T:A	donor_loss	0.9900
11:99357183:A:G	donor_gain	0.9900
11:99383909:TTTA:T	donor_gain	0.9900
11:99425478:C:G	donor_gain	0.9900
11:99425484:G:GA	donor_gain	0.9900
11:99425494:G:GG	donor_gain	0.9900
11:99461420:A:G	acceptor_gain	0.9900
11:99464148:C:G	donor_gain	0.9900
11:99464202:G:GT	donor_gain	0.9900
11:99536680:G:GG	donor_gain	0.9900
11:99556143:AG:A	acceptor_gain	0.9900
11:99556144:GG:G	acceptor_gain	0.9900

AlphaMissense

7143 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:100061231:T:A	W334R	1.000
11:100061231:T:C	W334R	1.000
11:100061233:G:C	W334C	1.000
11:100061233:G:T	W334C	1.000
11:100074259:G:C	W515C	1.000
11:100074259:G:T	W515C	1.000
11:99956822:G:C	W230C	1.000
11:99956822:G:T	W230C	1.000
11:100002120:T:C	C322R	0.999
11:100061292:T:C	L354P	0.999
11:100061330:T:G	Y367D	0.999
11:100061336:T:A	C369S	0.999
11:100061336:T:C	C369R	0.999
11:100061337:G:C	C369S	0.999
11:100061350:C:A	N373K	0.999
11:100061350:C:G	N373K	0.999
11:100070528:T:A	W423R	0.999
11:100070528:T:C	W423R	0.999
11:100070530:G:C	W423C	0.999
11:100070530:G:T	W423C	0.999
11:100071791:T:A	N462K	0.999
11:100071791:T:G	N462K	0.999
11:100074257:T:A	W515R	0.999
11:100074257:T:C	W515R	0.999
11:100074258:G:C	W515S	0.999
11:100191152:T:C	L536P	0.999
11:100191210:C:A	N555K	0.999
11:100191210:C:G	N555K	0.999
11:100193598:T:A	W607R	0.999
11:100193598:T:C	W607R	0.999

dbSNP variants (sampled 300 via entrez): RS1000000810 (11:99263648 G>T), RS1000003610 (11:99637561 AAAAT>A), RS1000005043 (11:99621960 G>A,T), RS1000005624 (11:99583476 G>A), RS1000007464 (11:99301342 C>G), RS1000010101 (11:99249819 G>A), RS1000015117 (11:100055774 G>A), RS1000017852 (11:100318052 T>C), RS1000018113 (11:99075114 C>G,T), RS1000020498 (11:100334369 T>C), RS1000020612 (11:99428298 G>A), RS1000021772 (11:99925206 T>C), RS1000022484 (11:100236345 G>A,T), RS1000024580 (11:99222196 T>A), RS1000026789 (11:100286258 C>T)

Disease associations

OMIM: gene MIM:607219 | disease phenotypes: MIM:142623, MIM:209850

GenCC curated gene-disease

Mondo (2): Hirschsprung disease, susceptibility to, 1 (MONDO:0007723), autism (MONDO:0005260)

Orphanet (1): Hirschsprung disease (Orphanet:388)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000717	Autism

GWAS associations

32 associations (top):

Study	Trait	p-value
GCST000088_5	Volumetric brain MRI	6.000000e-06
GCST000109_3	Atrial fibrillation	9.000000e-06
GCST000821_47	Bipolar disorder and schizophrenia	2.000000e-07
GCST001535_15	Immune reponse to smallpox (secreted IL-2)	9.000000e-09
GCST001712_39	Myopia (pathological)	4.000000e-06
GCST001762_29	Obesity-related traits	1.000000e-06
GCST001762_319	Obesity-related traits	6.000000e-06
GCST002337_21	Amyotrophic lateral sclerosis (sporadic)	2.000000e-07
GCST003121_5	Alcohol dependence	2.000000e-06
GCST003161_2	Objective response to lithium treatment in bipolar disorder	4.000000e-06
GCST003381_4	Bone mineral density (femoral neck)	4.000000e-07
GCST003773_19	Loneliness (multivariate analysis)	7.000000e-06
GCST004064_6	Waist-hip ratio	4.000000e-08
GCST005212_8	Asthma	2.000000e-06
GCST005342_5	Plasma kynurenine levels in major depressive disorder	1.000000e-06
GCST006056_2	Fructosamine levels	3.000000e-08
GCST006058_2	Total glycated albumin levels	2.000000e-06
GCST006585_1722	Blood protein levels	2.000000e-10
GCST006943_12	Feeling miserable	4.000000e-08
GCST007094_71	Diastolic blood pressure	9.000000e-09
GCST007401_14	Factor VII activity	2.000000e-06
GCST007551_2	Behcet’s disease	3.000000e-10
GCST007576_179	Chronotype	2.000000e-10
GCST007954_25	Glycated hemoglobin levels	5.000000e-07
GCST008460_4	Gout vs. Hyperuricemia	5.000000e-09
GCST008478_37	Neurological blood protein biomarker levels	1.000000e-12
GCST009307_12	Spatial memory	6.000000e-06
GCST010151_20	Carotid intima media thickness x smoking interaction	3.000000e-06
GCST010463_22	Childhood ALL/LBL (acute lymphoblastic leukemia/lymphoblastic lymphoma) treatment-related venous thromboembolism	5.000000e-06
GCST010573_6	Cardiorespiratory fitness (800m run time)	1.000000e-07

EFO canonical traits (22, from GWAS)

EFO ID	Trait name
EFO:0004868	volumetric brain MRI
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0004207	pathological myopia
EFO:0003940	physical activity
EFO:0007785	femoral neck bone mineral density
EFO:0007865	loneliness measurement
EFO:0004343	waist-hip ratio
EFO:0008529	kynurenine measurement
EFO:0009303	fructosamine measurement
EFO:0009305	total glycated albumin
EFO:0009598	feeling miserable measurement
EFO:0006336	diastolic blood pressure
EFO:0004619	factor VII measurement
EFO:0008328	chronotype measurement
EFO:0004541	HbA1c measurement
EFO:0009104	hyperuricemia
EFO:0004874	memory performance
EFO:0006527	smoking status measurement
EFO:0004328	exercise test
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0008343	sex interaction measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1813443	CNTN5		0.00	0

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	3
Aflatoxin B1	decreases methylation, increases methylation	2
methyleugenol	decreases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Amphotericin B	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	increases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Methapyrilene	decreases methylation	1
Phthalic Acids	affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
1-Methyl-4-phenylpyridinium	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02343562	PHASE4	UNKNOWN	Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis
NCT07186647	PHASE4	COMPLETED	Laparoscopic-Assisted Transanal Pull-Through for Hirschsprung Disease in Pediatric:Short and Intermediate Outcomes of Two Different Techniques
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT04904081	PHASE3	UNKNOWN	Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery
NCT00036231	PHASE3	TERMINATED	Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244	PHASE3	COMPLETED	Synthetic Human Secretin in Children With Autism
NCT00065884	PHASE3	UNKNOWN	Valproate Response in Aggressive Autistic Adolescents
NCT00065962	PHASE3	COMPLETED	Secretin for the Treatment of Autism
NCT00252603	PHASE3	COMPLETED	Galantamine Versus Placebo in Childhood Autism
NCT00346736	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00352248	PHASE3	COMPLETED	Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder
NCT00352352	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder