CNTN4 (contactin 4)

Gene

• Entrez ID: 152330
• Gene name: Contactin 4
• Gene symbol: CNTN4
• Synonyms (NCBI Gene): AXCAM, BIG-2
• Chromosome: 3
• Chromosome location: 3p26.3-p26.2
• Summary: This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuron

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT512617	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT512616	hsa-miR-340-3p	PAR-CLIP	23446348
MIRT512615	hsa-miR-6827-3p	PAR-CLIP	23446348
MIRT512614	hsa-miR-6742-3p	PAR-CLIP	23446348
MIRT512613	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT512612	hsa-miR-873-3p	PAR-CLIP	23446348
MIRT512611	hsa-miR-661	PAR-CLIP	23446348
MIRT512610	hsa-miR-4504	PAR-CLIP	23446348
MIRT512609	hsa-miR-3672	PAR-CLIP	23446348
MIRT512608	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT512607	hsa-miR-1262	PAR-CLIP	23446348
MIRT512606	hsa-miR-4701-3p	PAR-CLIP	23446348
MIRT512605	hsa-miR-6736-5p	PAR-CLIP	23446348
MIRT512607	hsa-miR-1262	PAR-CLIP	27292025
MIRT512616	hsa-miR-340-3p	PAR-CLIP	27292025
MIRT512609	hsa-miR-3672	PAR-CLIP	27292025
MIRT512610	hsa-miR-4504	PAR-CLIP	27292025
MIRT512606	hsa-miR-4701-3p	PAR-CLIP	27292025
MIRT512617	hsa-miR-5586-3p	PAR-CLIP	27292025
MIRT512611	hsa-miR-661	PAR-CLIP	27292025
MIRT512605	hsa-miR-6736-5p	PAR-CLIP	27292025
MIRT512614	hsa-miR-6742-3p	PAR-CLIP	27292025
MIRT512613	hsa-miR-6776-5p	PAR-CLIP	27292025
MIRT512615	hsa-miR-6827-3p	PAR-CLIP	27292025
MIRT512608	hsa-miR-6864-3p	PAR-CLIP	27292025
MIRT512612	hsa-miR-873-3p	PAR-CLIP	27292025
MIRT512617	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT512616	hsa-miR-340-3p	PAR-CLIP	23446348
MIRT512615	hsa-miR-6827-3p	PAR-CLIP	23446348
MIRT512614	hsa-miR-6742-3p	PAR-CLIP	23446348
MIRT512613	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT512612	hsa-miR-873-3p	PAR-CLIP	23446348
MIRT512611	hsa-miR-661	PAR-CLIP	23446348
MIRT512610	hsa-miR-4504	PAR-CLIP	23446348
MIRT512609	hsa-miR-3672	PAR-CLIP	23446348
MIRT512608	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT512607	hsa-miR-1262	PAR-CLIP	23446348
MIRT512606	hsa-miR-4701-3p	PAR-CLIP	23446348
MIRT512605	hsa-miR-6736-5p	PAR-CLIP	23446348
MIRT756402	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR	36544657
MIRT901689	hsa-miR-103a	CLIP-seq
MIRT901690	hsa-miR-107	CLIP-seq
MIRT901691	hsa-miR-1183	CLIP-seq
MIRT901692	hsa-miR-1224-5p	CLIP-seq
MIRT901693	hsa-miR-1244	CLIP-seq
MIRT901694	hsa-miR-1278	CLIP-seq
MIRT901695	hsa-miR-1304	CLIP-seq
MIRT901696	hsa-miR-200b	CLIP-seq
MIRT901697	hsa-miR-200c	CLIP-seq
MIRT901698	hsa-miR-203	CLIP-seq
MIRT901699	hsa-miR-2467-3p	CLIP-seq
MIRT901700	hsa-miR-338-5p	CLIP-seq
MIRT901701	hsa-miR-33a	CLIP-seq
MIRT901702	hsa-miR-33b	CLIP-seq
MIRT901703	hsa-miR-3678-3p	CLIP-seq
MIRT901704	hsa-miR-3915	CLIP-seq
MIRT901705	hsa-miR-3928	CLIP-seq
MIRT901706	hsa-miR-410	CLIP-seq
MIRT901707	hsa-miR-429	CLIP-seq
MIRT901708	hsa-miR-4424	CLIP-seq
MIRT901709	hsa-miR-4643	CLIP-seq
MIRT901710	hsa-miR-466	CLIP-seq
MIRT901711	hsa-miR-4666-5p	CLIP-seq
MIRT901712	hsa-miR-4689	CLIP-seq
MIRT901713	hsa-miR-4756-3p	CLIP-seq
MIRT901714	hsa-miR-4788	CLIP-seq
MIRT901715	hsa-miR-4789-3p	CLIP-seq
MIRT901716	hsa-miR-519a	CLIP-seq
MIRT901717	hsa-miR-519b-3p	CLIP-seq
MIRT901718	hsa-miR-519c-3p	CLIP-seq
MIRT901719	hsa-miR-656	CLIP-seq
MIRT901720	hsa-miR-885-3p	CLIP-seq
MIRT901693	hsa-miR-1244	CLIP-seq
MIRT901716	hsa-miR-519a	CLIP-seq
MIRT901717	hsa-miR-519b-3p	CLIP-seq
MIRT901718	hsa-miR-519c-3p	CLIP-seq
MIRT901689	hsa-miR-103a	CLIP-seq
MIRT901690	hsa-miR-107	CLIP-seq
MIRT901692	hsa-miR-1224-5p	CLIP-seq
MIRT901694	hsa-miR-1278	CLIP-seq
MIRT901695	hsa-miR-1304	CLIP-seq
MIRT901704	hsa-miR-3915	CLIP-seq
MIRT901705	hsa-miR-3928	CLIP-seq
MIRT901712	hsa-miR-4689	CLIP-seq
MIRT2203192	hsa-miR-616	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	15106122
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007158	Process	Neuron cell-cell adhesion	TAS	14571131
GO:0007399	Process	Nervous system development	IMP	15106122
GO:0007409	Process	Axonogenesis	TAS	14571131
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	TAS	15106122
GO:0007413	Process	Axonal fasciculation	TAS	15106122
GO:0007420	Process	Brain development	ISS
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	NAS	14571131
GO:0031175	Process	Neuron projection development	ISS
GO:0045202	Component	Synapse	IBA
GO:0045665	Process	Negative regulation of neuron differentiation	IMP	14571131
GO:0048167	Process	Regulation of synaptic plasticity	TAS	15106122
GO:0050808	Process	Synapse organization	IBA
GO:0070593	Process	Dendrite self-avoidance	IBA
GO:0098552	Component	Side of membrane	IEA
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA

Other IDs

• MIM: 607280
• HGNC: 2174
• e!Ensembl: ENSG00000144619

Protein

• UniProt ID: Q8IWV2
• Protein name: Contactin-4 (Brain-derived immunoglobulin superfamily protein 2) (BIG-2)
• Protein function: Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	26 → 118	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	125 → 198		Domain
  PF13927	Ig_3	224 → 299		Domain
  PF07679	I-set	316 → 401	Immunoglobulin I-set domain	Domain
  PF07679	I-set	406 → 494	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	497 → 579		Domain
  PF00041	fn3	598 → 686	Fibronectin type III domain	Domain
  PF00041	fn3	803 → 889	Fibronectin type III domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in brain. Highly expressed in cerebellum and weakly expressed in corpus callosum, caudate nucleus, amygdala and spinal cord. Also expressed in testis, pancreas, thyroid, uterus, small intestine and kidney. Not expresse
• Sequence:

  MRLPWELLVLQSFILCLADDSTLHGPIFIQEPSPVMFPLDSEEKKVKLNCEVKGNPKPHI
  RWKLNGTDVDTGMDFRYSVVEGSLLINNPNKTQDAGTYQCTATNSFGTIVSREAKLQFAY
  LDNFKTRTRSTVSVRRGQGMVLLCGPPPHSGELSYAWIFNEYPSYQDNRRFVSQETGNLY
  IAKVEKSDVGNYTCVVTNTVTNHKVLGPPTPLILRNDGVMGEYEPKIEVQFPETVPTAKG
  ATVKLECFALGNPVPTIIWRRADGKPIARKARRHKSNGILEIPNFQQEDAGLYECVAENS
  RGKNVARGQLTFYAQPNWIQKINDIHVAMEENVFWECKANGRPKPTYKWLKNGEPLLTRD
  RIQIEQGTLNITIVNLSDAGMYQCLAENKHGVIFSNAELSVIAVGPDFSRTLLKRVTLVK
  VGGEVVIECKPKASPKPVYTWKKGRDILKENERITISEDGNLRIINVTKSDAGSYTCIAT
  NHFGTASSTGNLVVKDPTRVMVPPSSMDVTVGESIVLPCQVTHDHSLDIVFTWSFNGHLI
  DFDRDGDHFERVGGQDSAGDLMIRNIQLKHAGKYVCMVQTSVDRLSAAADLIVRGPPGPP
  EAVTIDEITDTTAQLSWRPGPDNHSPITMYVIQARTPFSVGWQAVSTVPELIDGKTFTAT
  VVGLNPWVEYEFRTVAANVIGIGEPSRPSEKRRTEEALPEVTPANVSGGGGSKSELVITW
  ETVPEELQNGRGFGYVVAFRPYGKMIWMLTVLASADASRYVFRNESVHPFSPFEVKVGVF
  NNKGEGPFSPTTVVYSAEEEPTKPPASIFARSLSATDIEVFWASPLEKNRGRIQGYEVKY
  WRHEDKEENARKIRTVGNQTSTKITNLKGSVLYHLAVKAYNSAGTGPSSATVNVTTRKPP
  PSQPPGNIIWNSSDSKIILNWDQVKALDNESEVKGYKVLYRWNRQSSTSVIETNKTSVEL
  SLPFDEDYIIEIKPFSDGGDGSSSEQIRIPKISNAYARGSGASTSNACTLSAISTIMISL
  TARSSL

• Sequence length: 1026

Pathways

Reactome:

Post-translational modification: synthesis of GPI-anchored proteins

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNTN4-associated neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNTN4-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and oral cavity carcinoma	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACIC AORTIC ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	28938490		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	24529757		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	21079607, 28064060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	17030759		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	17915252		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	37120522	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	18349135, 23715297	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	37120522	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18179895, 18349135, 19404257, 21308999, 28064060, 29970989, 31422286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	18179895, 21308999, 22750301, 23872404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18349135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	19404257, 21308999, 23715297, 24204716	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Neoplasm	Benign Neoplasm	BEFREE	28938490		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22205951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	22205951	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	29207087, 30335191, 31134488		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19509545		★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	15106122		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	15106122		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	28044437		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	35907915	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	15106122		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	15106122, 18349135	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
gallbladder neoplasm	Neoplasm of gallbladder	GWASCAT_DG	22318345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	28044437	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	24764060	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	24764060		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	15106122		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	24345872	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22297481		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17036314, 21457564, 28064060		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	18349135, 21457564, 23040932	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	34183386	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28595731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	29207087, 30335191, 31134488		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	GWASDB_DG	22318345		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28595731		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19509545		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28821864		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17036314, 21457564		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19509545		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	35902621	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	21846565, 28064060		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22386932		★☆☆☆☆ Found in Text Mining only
Optic Nerve Aplasia, Bilateral	Optic nerve aplasia	BEFREE	22645276		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19509545		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	28938490		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	35574028	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	18349135		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	28938490		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28044437	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	25056061, 26198764, 28540026, 28991256, 29483656, 29503163, 30285260, 31268507, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	27668389	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Speech Disorders	Speech Disorders	BEFREE	31422286		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	Spinocerebellar Ataxia	BEFREE	17030759		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	21457564		★☆☆☆☆ Found in Text Mining only