Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6900
Gene name	Contactin 2
Gene symbol	CNTN2
Synonyms (NCBI Gene)	AXTEPEO5FAME5TAG-1TAXTAX1
Chromosome	1
Chromosome location	1q32.1
Summary	This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migrati

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139732336	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs142502980	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs145352110	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs398122387	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1196223064	A>G	Likely-pathogenic	Splice acceptor variant
rs1553345874	G>C	Likely-pathogenic	Splice acceptor variant

161

Show/Hide all (161)

miRTarBase ID	miRNA	Experiments
MIRT901620	hsa-miR-1224-3p	CLIP-seq
MIRT901621	hsa-miR-1236	CLIP-seq
MIRT901622	hsa-miR-1251	CLIP-seq
MIRT901623	hsa-miR-1273d	CLIP-seq
MIRT901624	hsa-miR-148a	CLIP-seq
MIRT901625	hsa-miR-148b	CLIP-seq
MIRT901626	hsa-miR-152	CLIP-seq
MIRT901627	hsa-miR-1912	CLIP-seq
MIRT901628	hsa-miR-1915	CLIP-seq
MIRT901629	hsa-miR-218	CLIP-seq
MIRT901630	hsa-miR-2277-3p	CLIP-seq
MIRT901631	hsa-miR-2392	CLIP-seq
MIRT901632	hsa-miR-2467-3p	CLIP-seq
MIRT901633	hsa-miR-3135	CLIP-seq
MIRT901634	hsa-miR-3136-3p	CLIP-seq
MIRT901635	hsa-miR-3150b-3p	CLIP-seq
MIRT901636	hsa-miR-3174	CLIP-seq
MIRT901637	hsa-miR-3616-5p	CLIP-seq
MIRT901638	hsa-miR-3647-5p	CLIP-seq
MIRT901639	hsa-miR-3664-3p	CLIP-seq
MIRT901640	hsa-miR-3670	CLIP-seq
MIRT901641	hsa-miR-3960	CLIP-seq
MIRT901642	hsa-miR-4267	CLIP-seq
MIRT901643	hsa-miR-4318	CLIP-seq
MIRT901644	hsa-miR-4326	CLIP-seq
MIRT901645	hsa-miR-4420	CLIP-seq
MIRT901646	hsa-miR-4433	CLIP-seq
MIRT901647	hsa-miR-4474-3p	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT901649	hsa-miR-4635	CLIP-seq
MIRT901650	hsa-miR-4645-5p	CLIP-seq
MIRT901651	hsa-miR-4653-3p	CLIP-seq
MIRT901652	hsa-miR-4673	CLIP-seq
MIRT901653	hsa-miR-4687-3p	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT901655	hsa-miR-4697-3p	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT901657	hsa-miR-4726-3p	CLIP-seq
MIRT901658	hsa-miR-4774-3p	CLIP-seq
MIRT901659	hsa-miR-4780	CLIP-seq
MIRT901660	hsa-miR-4784	CLIP-seq
MIRT901661	hsa-miR-512-3p	CLIP-seq
MIRT901662	hsa-miR-542-5p	CLIP-seq
MIRT901663	hsa-miR-573	CLIP-seq
MIRT901664	hsa-miR-873	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT1967452	hsa-miR-1207-5p	CLIP-seq
MIRT901622	hsa-miR-1251	CLIP-seq
MIRT1967453	hsa-miR-1976	CLIP-seq
MIRT1967454	hsa-miR-3192	CLIP-seq
MIRT1967455	hsa-miR-3915	CLIP-seq
MIRT1967456	hsa-miR-3918	CLIP-seq
MIRT1967457	hsa-miR-3928	CLIP-seq
MIRT1967458	hsa-miR-4254	CLIP-seq
MIRT1967459	hsa-miR-4300	CLIP-seq
MIRT1967460	hsa-miR-4308	CLIP-seq
MIRT1967461	hsa-miR-4469	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT1967462	hsa-miR-4529-5p	CLIP-seq
MIRT1967463	hsa-miR-4675	CLIP-seq
MIRT1967464	hsa-miR-4685-5p	CLIP-seq
MIRT901653	hsa-miR-4687-3p	CLIP-seq
MIRT1967465	hsa-miR-4690-5p	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT1967466	hsa-miR-4722-3p	CLIP-seq
MIRT1967467	hsa-miR-4729	CLIP-seq
MIRT1967468	hsa-miR-4741	CLIP-seq
MIRT1967469	hsa-miR-4763-3p	CLIP-seq
MIRT1967470	hsa-miR-495	CLIP-seq
MIRT1967471	hsa-miR-920	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT2203137	hsa-miR-1205	CLIP-seq
MIRT2203138	hsa-miR-125a-5p	CLIP-seq
MIRT2203139	hsa-miR-125b	CLIP-seq
MIRT2203140	hsa-miR-1266	CLIP-seq
MIRT2203141	hsa-miR-1286	CLIP-seq
MIRT2203142	hsa-miR-1288	CLIP-seq
MIRT2203143	hsa-miR-1291	CLIP-seq
MIRT2203144	hsa-miR-1587	CLIP-seq
MIRT2203145	hsa-miR-216a	CLIP-seq
MIRT2203146	hsa-miR-24	CLIP-seq
MIRT2203147	hsa-miR-3064-5p	CLIP-seq
MIRT2203148	hsa-miR-3117-3p	CLIP-seq
MIRT901633	hsa-miR-3135	CLIP-seq
MIRT2203149	hsa-miR-3155	CLIP-seq
MIRT2203150	hsa-miR-3155b	CLIP-seq
MIRT2203151	hsa-miR-3169	CLIP-seq
MIRT2203152	hsa-miR-328	CLIP-seq
MIRT2203153	hsa-miR-3652	CLIP-seq
MIRT901639	hsa-miR-3664-3p	CLIP-seq
MIRT2203154	hsa-miR-378g	CLIP-seq
MIRT2203155	hsa-miR-4270	CLIP-seq
MIRT2203156	hsa-miR-4283	CLIP-seq
MIRT2203157	hsa-miR-4319	CLIP-seq
MIRT2203158	hsa-miR-4430	CLIP-seq
MIRT2203159	hsa-miR-4437	CLIP-seq
MIRT2203160	hsa-miR-4438	CLIP-seq
MIRT2203161	hsa-miR-4441	CLIP-seq
MIRT2203162	hsa-miR-4459	CLIP-seq
MIRT2203163	hsa-miR-4464	CLIP-seq
MIRT2203164	hsa-miR-4489	CLIP-seq
MIRT2203165	hsa-miR-4492	CLIP-seq
MIRT2203166	hsa-miR-4498	CLIP-seq
MIRT2203167	hsa-miR-4505	CLIP-seq
MIRT2203168	hsa-miR-4518	CLIP-seq
MIRT2203169	hsa-miR-4656	CLIP-seq
MIRT1967463	hsa-miR-4675	CLIP-seq
MIRT901653	hsa-miR-4687-3p	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT1967467	hsa-miR-4729	CLIP-seq
MIRT2203170	hsa-miR-4731-5p	CLIP-seq
MIRT1967468	hsa-miR-4741	CLIP-seq
MIRT2203171	hsa-miR-4748	CLIP-seq
MIRT2203172	hsa-miR-4759	CLIP-seq
MIRT2203173	hsa-miR-484	CLIP-seq
MIRT2203174	hsa-miR-485-5p	CLIP-seq
MIRT2203175	hsa-miR-5095	CLIP-seq
MIRT2203176	hsa-miR-513c	CLIP-seq
MIRT2203177	hsa-miR-514b-5p	CLIP-seq
MIRT2203178	hsa-miR-665	CLIP-seq
MIRT2203179	hsa-miR-671-5p	CLIP-seq
MIRT2203180	hsa-miR-762	CLIP-seq
MIRT901664	hsa-miR-873	CLIP-seq
MIRT2386314	hsa-miR-103a	CLIP-seq
MIRT2386315	hsa-miR-107	CLIP-seq
MIRT2386316	hsa-miR-1276	CLIP-seq
MIRT2386317	hsa-miR-1827	CLIP-seq
MIRT2386318	hsa-miR-3157-3p	CLIP-seq
MIRT1967454	hsa-miR-3192	CLIP-seq
MIRT1967459	hsa-miR-4300	CLIP-seq
MIRT2386319	hsa-miR-4311	CLIP-seq
MIRT2386320	hsa-miR-4744	CLIP-seq
MIRT2386321	hsa-miR-583	CLIP-seq
MIRT1967471	hsa-miR-920	CLIP-seq
MIRT2203149	hsa-miR-3155	CLIP-seq
MIRT2203150	hsa-miR-3155b	CLIP-seq
MIRT2447415	hsa-miR-4269	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT2447416	hsa-miR-4742-5p	CLIP-seq
MIRT2203173	hsa-miR-484	CLIP-seq
MIRT2447417	hsa-miR-635	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT2447417	hsa-miR-635	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT2506147	hsa-miR-4435	CLIP-seq
MIRT2203162	hsa-miR-4459	CLIP-seq
MIRT2506148	hsa-miR-4640-5p	CLIP-seq
MIRT2506149	hsa-miR-4726-5p	CLIP-seq
MIRT2506150	hsa-miR-4779	CLIP-seq
MIRT2203178	hsa-miR-665	CLIP-seq
MIRT2506147	hsa-miR-4435	CLIP-seq
MIRT2203162	hsa-miR-4459	CLIP-seq
MIRT2506148	hsa-miR-4640-5p	CLIP-seq
MIRT2506149	hsa-miR-4726-5p	CLIP-seq
MIRT2506150	hsa-miR-4779	CLIP-seq
MIRT2203178	hsa-miR-665	CLIP-seq

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001973	Process	G protein-coupled adenosine receptor signaling pathway	IEA
GO:0002021	Process	Response to dietary excess	IEA
GO:0002023	Process	Reduction of food intake in response to dietary excess	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	8425542
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	8425542
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007413	Process	Axonal fasciculation	IEA
GO:0007612	Process	Learning	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010954	Process	Positive regulation of protein processing	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0021853	Process	Cerebral cortex GABAergic interneuron migration	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0022604	Process	Regulation of cell morphogenesis	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0031133	Process	Regulation of axon diameter	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0031623	Process	Receptor internalization	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0033268	Component	Node of Ranvier	ISS
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0043209	Component	Myelin sheath	IEA
GO:0043209	Component	Myelin sheath	ISS
GO:0044224	Component	Juxtaparanode region of axon	IEA
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0045163	Process	Clustering of voltage-gated potassium channels	IEA
GO:0045163	Process	Clustering of voltage-gated potassium channels	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IDA	26217189
GO:0045211	Component	Postsynaptic membrane	IMP	26217189
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IEA
GO:0048710	Process	Regulation of astrocyte differentiation	IEA
GO:0050808	Process	Synapse organization	IBA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060168	Process	Positive regulation of adenosine receptor signaling pathway	IEA
GO:0070593	Process	Dendrite self-avoidance	IBA
GO:0071205	Process	Protein localization to juxtaparanode region of axon	IEA
GO:0071205	Process	Protein localization to juxtaparanode region of axon	ISS
GO:0071206	Process	Establishment of protein localization to juxtaparanode region of axon	IEA
GO:0097090	Process	Presynaptic membrane organization	IMP	23518707
GO:0098552	Component	Side of membrane	IEA
GO:0098631	Function	Cell adhesion mediator activity	IEA
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA

MIM	HGNC	e!Ensembl
190197	2172	ENSG00000184144

Q02246

Protein name

Contactin-2 (Axonal glycoprotein TAG-1) (Axonin-1) (Transient axonal glycoprotein 1) (TAX-1)

Protein function

In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion. {EC

PDB

2OM5 , 8K3J , 8K53 , 9BA4 , 9BA5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13927	Ig_3	37 → 115		Domain
PF13927	Ig_3	238 → 310		Domain
PF07679	I-set	327 → 412	Immunoglobulin I-set domain	Domain
PF07679	I-set	421 → 505	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	510 → 591		Domain
PF00041	fn3	609 → 697	Fibronectin type III domain	Domain
PF00041	fn3	712 → 800	Fibronectin type III domain	Domain
PF00041	fn3	814 → 900	Fibronectin type III domain	Domain

Sequence

MGTATRRKPHLLLVAAVALVSSSAWSSALGSQTTFGPVFEDQPLSVLFPEESTEEQVLLA
CRARASPPATYRWKMNGTEMKLEPGSRHQLVGGNLVIMNPTKAQDAGVYQCLASNPVGTV
VSREAILRFGFLQEFSKEERDPVKAHEGWGVMLPCNPPAHYPGLSYRWLLNEFPNFIPTD
GRHFVSQTTGNLYIARTNASDLGNYSCLATSHMDFSTKSVFSKFAQLNLAAEDTRLFAPS
IKARFPAETYALVGQQVTLECFAFGNPVPRIKWRKVDGSLSPQWTTAEPTLQIPSVSFED
EGTYECEAENSKGRDTVQGRIIVQAQPEWLKVISDTEADIGSNLRWGCAAAGKPRPTVRW
LRNGEPLASQNRVEVLAGDLRFSKLSLEDSGMYQCVAENKHGTIYASAELAVQALAPDFR
LNPVRRLIPAARGGEILIPCQPRAAPKAVVLWSKGTEILVNSSRVTVTPDGTLIIRNISR
SDEGKYTCFAENFMGKANSTGILSVRDATKITLAPSSADINLGDNLTLQCHASHDPTMDL
TFTWTLDDFPIDFDKPGGHYRRTNVKETIGDLTILNAQLRHGGKYTCMAQTVVDSASKEA
TVLVRGPPGPPGGVVVRDIGDTTIQLSWSRGFDNHSPIAKYTLQARTPPAGKWKQVRTNP
ANIEGNAETAQVLGLTPWMDYEFRVIASNILGTGEPSGPSSKIRTREAAPSVAPSGLSGG
GGAPGELIVNWTPMSREYQNGDGFGYLLSFRRQGSTHWQTARVPGADAQYFVYSNESVRP
YTPFEVKIRSYNRRGDGPESLTALVYSAEEEPRVAPTKVWAKGVSSSEMNVTWEPVQQDM
NGILLGYEIRYWKAGDKEAAADRVRTAGLDTSARVSGLHPNTKYHVTVRAYNRAGTGPAS
PSANATTMKPPPRRPPGNISWTFSSSSLSIKWDPVVPFRNESAVTGYKMLYQNDLHLTPT
LHLTGKNWIEIPVPEDIGHALVQIRTTGPGGDGIPAEVHIVRNGGTSMMVENMAVRPAPH
PGTVISHSVAMLILIGSLEL

Sequence length

1040

Interactions

View interactions

	KEGG
	Cell adhesion molecules

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epilepsy, familial adult myoclonic, 5	Likely pathogenic; Pathogenic	rs1202358073, rs531184069, rs768608238, rs763392794, rs2151200415, rs2151192841, rs113709347, rs2151200083, rs2151198133, rs867618155, rs1553347743, rs779892361, rs2526413187, rs1446948758, rs2526418181 View all (13 more)	RCV001379477 RCV001381853 RCV001924037 RCV001968931 RCV001932440 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNTN2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, EARLY-ONSET, 5, WITH OR WITHOUT DEVELOPMENTAL DELAY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, familial adult myoclonic, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ADULT MYOCLONIC EPILEPSY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (79)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Neuromyotonia	Acquired Neuromyotonia	BEFREE	30242309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	25351872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10077562, 10348340, 11080798, 11145887, 11159527, 11160720, 11213478, 11450946, 11559817, 11724264, 11861831, 11992406, 12469209, 12650929, 1299224 View all (46 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	LHGDN	14991578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29859129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	8596143, 9933086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	9416848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	17121800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	17121800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28962509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	28860054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29788201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28135886, 9933086		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19701248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign adult familial myoclonic epilepsy	Benign Myoclonic Epilepsy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10226835, 30811419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	8687197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19472191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19472191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Lewis Lung	Lewis lung carcinoma	Pubtator	32806791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30811419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18288924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	29165835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	25351872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29859129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19472191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	10895371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	35870967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23518707		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1	Myoclonic Epilepsy	ORPHANET_DG	23518707		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5	Myoclonic Epilepsy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5	Myoclonic Epilepsy	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5	Myoclonic Epilepsy	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11280781, 28243115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11280781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11280781, 28243115, 28789439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	18760366, 29859129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isaacs syndrome	Isaacs Syndrome	BEFREE	30242309		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30848389, 7862633, 8245871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	11159527, 11724264, 12469209, 15310405, 15904464, 16052518, 16155604, 16407133, 18425496, 19129196, 19338781, 19617351, 1984476, 20463074, 23616667 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	32806791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28599462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	8751961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	8944616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	12640683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18288924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30811419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18288924, 25531185, 25702703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30156172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	11280781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10495418, 12640683, 12850476, 1299224, 1506264, 16877735, 17042961, 18661220, 20017942, 20069350, 30820651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27871938		★★★★★ ★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	8627811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	8627811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	8627811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29066508		★★★★★ ★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	17121800, 25351872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	25351872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	19701248		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18288924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39972314	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	17121800, 9261427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29848781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39754246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	7668833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	8230424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12051394, 8596143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 30285260		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	36482464	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	18445659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	8687197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37105033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Large Granular Lymphocyte Leukemia	T-cell Lymphocytic Leukemia	BEFREE	24183305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	11280781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual auras	Visual auras	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	17121800, 25351872		★★★★★ ★☆☆☆☆ Found in Text Mining only

CNTN2 (contactin 2)