CUX2 (cut like homeobox 2)

Gene

• Entrez ID: 23316
• Gene name: Cut like homeobox 2
• Gene symbol: CUX2
• Synonyms (NCBI Gene): CDP2, CUTL2, DEE67, EIEE67
• Chromosome: 12
• Chromosome location: 12q24.11-q24.12
• Summary: This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes o

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022380	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT538246	hsa-miR-451a	PAR-CLIP	22012620
MIRT538247	hsa-miR-552-5p	PAR-CLIP	22012620
MIRT538245	hsa-miR-4455	PAR-CLIP	22012620
MIRT538246	hsa-miR-451a	PAR-CLIP	22012620
MIRT538247	hsa-miR-552-5p	PAR-CLIP	22012620
MIRT538245	hsa-miR-4455	PAR-CLIP	22012620
MIRT917361	hsa-miR-1224-3p	CLIP-seq
MIRT917362	hsa-miR-1470	CLIP-seq
MIRT917363	hsa-miR-3591-3p	CLIP-seq
MIRT917364	hsa-miR-4271	CLIP-seq
MIRT917365	hsa-miR-4287	CLIP-seq
MIRT917366	hsa-miR-4326	CLIP-seq
MIRT917367	hsa-miR-4426	CLIP-seq
MIRT917368	hsa-miR-4469	CLIP-seq
MIRT917369	hsa-miR-4647	CLIP-seq
MIRT917370	hsa-miR-4662b	CLIP-seq
MIRT917371	hsa-miR-4667-3p	CLIP-seq
MIRT917372	hsa-miR-4685-3p	CLIP-seq
MIRT917373	hsa-miR-4691-5p	CLIP-seq
MIRT917374	hsa-miR-4725-3p	CLIP-seq
MIRT917375	hsa-miR-563	CLIP-seq
MIRT917376	hsa-miR-570	CLIP-seq
MIRT2207670	hsa-miR-1976	CLIP-seq
MIRT2207671	hsa-miR-2467-3p	CLIP-seq
MIRT2207672	hsa-miR-3158-5p	CLIP-seq
MIRT2207673	hsa-miR-3159	CLIP-seq
MIRT2207674	hsa-miR-3678-3p	CLIP-seq
MIRT2207675	hsa-miR-376a	CLIP-seq
MIRT2207676	hsa-miR-376b	CLIP-seq
MIRT2207677	hsa-miR-377	CLIP-seq
MIRT2207678	hsa-miR-3977	CLIP-seq
MIRT2207679	hsa-miR-4727-5p	CLIP-seq
MIRT2207680	hsa-miR-668	CLIP-seq
MIRT2207681	hsa-miR-767-3p	CLIP-seq
MIRT2207682	hsa-miR-939	CLIP-seq
MIRT2510946	hsa-miR-3180-5p	CLIP-seq
MIRT2510947	hsa-miR-3198	CLIP-seq
MIRT2207674	hsa-miR-3678-3p	CLIP-seq
MIRT2510948	hsa-miR-4297	CLIP-seq
MIRT2510949	hsa-miR-4309	CLIP-seq
MIRT2510950	hsa-miR-4653-3p	CLIP-seq
MIRT2510951	hsa-miR-520a-5p	CLIP-seq
MIRT2510952	hsa-miR-525-5p	CLIP-seq
MIRT2510953	hsa-miR-532-5p	CLIP-seq
MIRT2510946	hsa-miR-3180-5p	CLIP-seq
MIRT2510947	hsa-miR-3198	CLIP-seq
MIRT2207674	hsa-miR-3678-3p	CLIP-seq
MIRT2510948	hsa-miR-4297	CLIP-seq
MIRT2510949	hsa-miR-4309	CLIP-seq
MIRT2510950	hsa-miR-4653-3p	CLIP-seq
MIRT2510951	hsa-miR-520a-5p	CLIP-seq
MIRT2510952	hsa-miR-525-5p	CLIP-seq
MIRT2510953	hsa-miR-532-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	15656993
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15656993
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007614	Process	Short-term memory	IEA
GO:0007614	Process	Short-term memory	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	15656993
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0050775	Process	Positive regulation of dendrite morphogenesis	IEA
GO:0050775	Process	Positive regulation of dendrite morphogenesis	ISS
GO:0050890	Process	Cognition	IMP	15389760
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0051965	Process	Positive regulation of synapse assembly	ISS
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	IEA
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS

Other IDs

• MIM: 610648
• HGNC: 19347
• e!Ensembl: ENSG00000111249

Protein

• UniProt ID: O14529
• Protein name: Homeobox protein cut-like 2 (Homeobox protein cux-2)
• Protein function: Transcription factor involved in the control of neuronal proliferation and differentiation in the brain. Regulates dendrite development and branching, dendritic spine formation, and synaptogenesis in cortical layers II-III. Binds to DNA in a seq
• PDB: 1WH6, 1WH8, 1X2L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02376	CUT	549 → 627	CUT domain	Domain
  PF02376	CUT	892 → 967	CUT domain	Domain
  PF02376	CUT	1043 → 1120	CUT domain	Domain
  PF00046	Homeodomain	1169 → 1225	Homeodomain	Domain

• Sequence:

  MAANVGSMFQYWKRFDLRRLQKELNSVASELSARQEESEHSHKHLIELRREFKKNVPEEI
  REMVAPVLKSFQAEVVALSKRSQEAEAAFLSVYKQLIEAPDPVPVFEAARSLDDRLQPPS
  FDPSGQPRRDLHTSWKRNPELLSPKEQREGTSPAGPTLTEGSRLPGIPGKALLTETLLQR
  NEAEKQKGLQEVQITLAARLGEAEEKIKVLHSALKATQAELLELRRKYDEEAASKADEVG
  LIMTNLEKANQRAEAAQREVESLREQLASVNSSIRLACCSPQGPSGDKVNFTLCSGPRLE
  AALASKDREILRLLKDVQHLQSSLQELEEASANQIADLERQLTAKSEAIEKLEEKLQAQS
  DYEEIKTELSILKAMKLASSTCSLPQGMAKPEDSLLIAKEAFFPTQKFLLEKPSLLASPE
  EDPSEDDSIKDSLGTEQSYPSPQQLPPPPGPEDPLSPSPGQPLLGPSLGPDGTRTFSLSP
  FPSLASGERLMMPPAAFKGEAGGLLVFPPAFYGAKPPTAPATPAPGPEPLGGPEPADGGG
  GGAAGPGAEEEQLDTAEIAFQVKEQLLKHNIGQRVFGHYVLGLSQGSVSEILARPKPWRK
  LTVKGKEPFIKMKQFLSDEQNVLALRTIQVRQRGSITPRIRTPETGSDDAIKSILEQAKK
  EIESQKGGEPKTSVAPLSIANGTTPASTSEDAIKSILEQARREMQAQQQALLEMEVAPRG
  RSVPPSPPERPSLATASQNGAPALVKQEEGSGGPAQAPLPVLSPAAFVQSIIRKVKSEIG
  DAGYFDHHWASDRGLLSRPYASVSPSLSSSSSSGYSGQPNGRAWPRGDEAPVPPEDEAAA
  GAEDEPPRTGELKAEGATAEAGARLPYYPAYVPRTLKPTVPPLTPEQYELYMYREVDTLE
  LTRQVKEKLAKNGICQRIFGEKVLGLSQGSVSDMLSRPKPWSKLTQKGREPFIRMQLWLS
  DQLGQAVGQQPGASQASPTEPRSSPSPPPSPTEPEKSSQEPLSLSLESSKENQQPEGRSS
  SSLSGKMYSGSQAPGGIQEIVAMSPELDTYSITKRVKEVLTDNNLGQRLFGESILGLTQG
  SVSDLLSRPKPWHKLSLKGREPFVRMQLWLNDPHNVEKLRDMKKLEKKAYLKRRYGLIST
  GSDSESPATRSECPSPCLQPQDLSLLQIKKPRVVLAPEEKEALRKAYQLEPYPSQQTIEL
  LSFQLNLKTNTVINWFHNYRSRMRREMLVEGTQDEPDLDPSGGPGILPPGHSHPDPTPQS
  PDSETEDQKPTVKELELQEGPEENSTPLTTQDKAQVRIKQEQMEEDAEEEAGSQPQDSGE
  LDKGQGPPKEEHPDPPGNDGLPKVAPGPLLPGGSTPDCPSLHPQQESEAGERLHPDPLSF
  KSASESSRCSLEVSLNSPSAASSPGLMMSVSPVPSSSAPISPSPPGAPPAKVPSASPTAD
  MAGALHPSAKVNPNLQRRHEKMANLNNIIYRVERAANREEALEWEF

• Sequence length: 1486

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CUX2-related disorder	Likely pathogenic; Pathogenic	rs1565909334	RCV003420268	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 67	Pathogenic; Likely pathogenic	rs1351590882, rs2499773555, rs1565909334	RCV001721004 RCV003224764 RCV000709621	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral tonic-clonic seizure	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LENNOX-GASTAUT SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	27899376		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28067321, 28129963, 29459676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	28067321, 29459676	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical absence seizure	Absence Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	29795476	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29795476		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	GENOMICS_ENGLAND_DG	23934111		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	29630738, 29795476	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31708105		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11353453, 15389760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15389760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	29630738, 29795476	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37308906	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29630738, 29795476	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	34447459	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21971053, 23364394		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	23364394		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	21130845		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	12631665	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25646370		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25646370	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22293688	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32722627	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	22293688		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22293688		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	22293688		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29630738		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	29630738	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29630738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	29630738, 29795476	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Absence	Absence epilepsy	Pubtator	29630738	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	29630738	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	29630738		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	29795476		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	29630738	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67	Epileptic encephalopathy	CLINVAR_DG	23020937, 28628100, 29630738, 29795476		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	23934111		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67	Epileptic encephalopathy	UNIPROT_DG	29630738, 29795476		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	25646370, 27181629	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	GWASCAT_DG	27899376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	32854392	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	23934111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	29795476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	29795476	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	ORPHANET_DG	29630738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	15389760		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	15389760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	PSYGENET_DG	15389760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	15389760		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	15389760		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	15389760		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	15389760		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	15389760		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31316211		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31708105		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30636884		★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29795476		★☆☆☆☆ Found in Text Mining only
Rosacea	Rosacea	Pubtator	39272052	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31708105		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29630738, 29795476	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	GWASCAT_DG	30281874		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30281874	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only