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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	104
Gene name	Adenosine deaminase RNA specific B1
Gene symbol	ADARB1
Synonyms (NCBI Gene)	ADAR2DRABA2DRADA2NEDHYMSRED1
Chromosome	21
Chromosome location	21q22.3
Summary	This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI

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Show/Hide all (232)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020174	hsa-miR-130b-3p	Sequencing	20371350
MIRT022259	hsa-miR-124-3p	Microarray	18668037
MIRT025443	hsa-miR-34a-5p	Proteomics	21566225
MIRT025977	hsa-miR-148a-3p	Sequencing	20371350
MIRT027945	hsa-miR-93-5p	Sequencing	20371350
MIRT029036	hsa-miR-26b-5p	Sequencing	20371350
MIRT050812	hsa-miR-17-5p	CLASH	23622248
MIRT041526	hsa-miR-193b-3p	CLASH	23622248
MIRT539475	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT441263	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441263	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT539475	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT767281	hsa-miR-1225-3p	CLIP-seq
MIRT767282	hsa-miR-1233	CLIP-seq
MIRT767283	hsa-miR-1245b-3p	CLIP-seq
MIRT767284	hsa-miR-1294	CLIP-seq
MIRT767285	hsa-miR-1295	CLIP-seq
MIRT767286	hsa-miR-1299	CLIP-seq
MIRT767287	hsa-miR-15a	CLIP-seq
MIRT767288	hsa-miR-15b	CLIP-seq
MIRT767289	hsa-miR-16	CLIP-seq
MIRT767290	hsa-miR-195	CLIP-seq
MIRT767291	hsa-miR-3065-3p	CLIP-seq
MIRT767292	hsa-miR-3942-3p	CLIP-seq
MIRT767293	hsa-miR-3944-5p	CLIP-seq
MIRT767294	hsa-miR-424	CLIP-seq
MIRT767295	hsa-miR-4316	CLIP-seq
MIRT767296	hsa-miR-4471	CLIP-seq
MIRT767297	hsa-miR-4717-5p	CLIP-seq
MIRT767298	hsa-miR-4782-5p	CLIP-seq
MIRT767299	hsa-miR-497	CLIP-seq
MIRT767300	hsa-miR-516b	CLIP-seq
MIRT767301	hsa-miR-576-3p	CLIP-seq
MIRT767302	hsa-miR-1254	CLIP-seq
MIRT767303	hsa-miR-1287	CLIP-seq
MIRT767284	hsa-miR-1294	CLIP-seq
MIRT767286	hsa-miR-1299	CLIP-seq
MIRT767304	hsa-miR-184	CLIP-seq
MIRT767305	hsa-miR-1976	CLIP-seq
MIRT767306	hsa-miR-3116	CLIP-seq
MIRT767307	hsa-miR-3605-5p	CLIP-seq
MIRT767308	hsa-miR-365	CLIP-seq
MIRT767309	hsa-miR-3654	CLIP-seq
MIRT767310	hsa-miR-3690	CLIP-seq
MIRT767311	hsa-miR-4274	CLIP-seq
MIRT767312	hsa-miR-4462	CLIP-seq
MIRT767313	hsa-miR-450b-3p	CLIP-seq
MIRT767314	hsa-miR-4638-3p	CLIP-seq
MIRT767315	hsa-miR-4691-5p	CLIP-seq
MIRT767316	hsa-miR-4704-3p	CLIP-seq
MIRT767317	hsa-miR-4722-3p	CLIP-seq
MIRT767298	hsa-miR-4782-5p	CLIP-seq
MIRT767318	hsa-miR-4804-5p	CLIP-seq
MIRT767319	hsa-miR-488	CLIP-seq
MIRT767320	hsa-miR-494	CLIP-seq
MIRT767300	hsa-miR-516b	CLIP-seq
MIRT767321	hsa-miR-661	CLIP-seq
MIRT767322	hsa-miR-765	CLIP-seq
MIRT767323	hsa-miR-769-3p	CLIP-seq
MIRT767324	hsa-miR-938	CLIP-seq
MIRT767325	hsa-miR-139-3p	CLIP-seq
MIRT767326	hsa-miR-2114	CLIP-seq
MIRT767327	hsa-miR-30a	CLIP-seq
MIRT767328	hsa-miR-30b	CLIP-seq
MIRT767329	hsa-miR-30c	CLIP-seq
MIRT767330	hsa-miR-30d	CLIP-seq
MIRT767331	hsa-miR-30e	CLIP-seq
MIRT767332	hsa-miR-3607-3p	CLIP-seq
MIRT767333	hsa-miR-4278	CLIP-seq
MIRT767334	hsa-miR-4292	CLIP-seq
MIRT767335	hsa-miR-4308	CLIP-seq
MIRT767336	hsa-miR-4716-3p	CLIP-seq
MIRT767337	hsa-miR-4736	CLIP-seq
MIRT767338	hsa-miR-486-3p	CLIP-seq
MIRT767339	hsa-miR-548g	CLIP-seq
MIRT767340	hsa-miR-941	CLIP-seq
MIRT1926049	hsa-miR-1185	CLIP-seq
MIRT1926050	hsa-miR-1197	CLIP-seq
MIRT1926051	hsa-miR-1224-3p	CLIP-seq
MIRT1926052	hsa-miR-1290	CLIP-seq
MIRT1926053	hsa-miR-1305	CLIP-seq
MIRT1926054	hsa-miR-1324	CLIP-seq
MIRT1926055	hsa-miR-181a	CLIP-seq
MIRT1926056	hsa-miR-181b	CLIP-seq
MIRT1926057	hsa-miR-181c	CLIP-seq
MIRT1926058	hsa-miR-181d	CLIP-seq
MIRT1926059	hsa-miR-185	CLIP-seq
MIRT1926060	hsa-miR-198	CLIP-seq
MIRT1926061	hsa-miR-216b	CLIP-seq
MIRT1926062	hsa-miR-23a	CLIP-seq
MIRT1926063	hsa-miR-23b	CLIP-seq
MIRT1926064	hsa-miR-23c	CLIP-seq
MIRT1926065	hsa-miR-2861	CLIP-seq
MIRT767327	hsa-miR-30a	CLIP-seq
MIRT767328	hsa-miR-30b	CLIP-seq
MIRT767329	hsa-miR-30c	CLIP-seq
MIRT767330	hsa-miR-30d	CLIP-seq
MIRT767331	hsa-miR-30e	CLIP-seq
MIRT1926066	hsa-miR-3166	CLIP-seq
MIRT1926067	hsa-miR-337-3p	CLIP-seq
MIRT1926068	hsa-miR-340	CLIP-seq
MIRT767307	hsa-miR-3605-5p	CLIP-seq
MIRT1926069	hsa-miR-3622a-3p	CLIP-seq
MIRT1926070	hsa-miR-3622b-3p	CLIP-seq
MIRT767308	hsa-miR-365	CLIP-seq
MIRT1926071	hsa-miR-3679-5p	CLIP-seq
MIRT1926072	hsa-miR-3682-5p	CLIP-seq
MIRT1926073	hsa-miR-3692	CLIP-seq
MIRT1926074	hsa-miR-376a	CLIP-seq
MIRT1926075	hsa-miR-376b	CLIP-seq
MIRT1926076	hsa-miR-384	CLIP-seq
MIRT1926077	hsa-miR-4262	CLIP-seq
MIRT1926078	hsa-miR-4275	CLIP-seq
MIRT1926079	hsa-miR-4277	CLIP-seq
MIRT1926080	hsa-miR-4306	CLIP-seq
MIRT1926081	hsa-miR-4427	CLIP-seq
MIRT1926082	hsa-miR-4436b-5p	CLIP-seq
MIRT1926083	hsa-miR-4459	CLIP-seq
MIRT1926084	hsa-miR-4632	CLIP-seq
MIRT1926085	hsa-miR-4644	CLIP-seq
MIRT1926086	hsa-miR-4680-3p	CLIP-seq
MIRT1926087	hsa-miR-4717-3p	CLIP-seq
MIRT1926088	hsa-miR-4719	CLIP-seq
MIRT1926089	hsa-miR-4758-3p	CLIP-seq
MIRT1926090	hsa-miR-4771	CLIP-seq
MIRT1926091	hsa-miR-5096	CLIP-seq
MIRT1926092	hsa-miR-512-3p	CLIP-seq
MIRT1926093	hsa-miR-518d-5p	CLIP-seq
MIRT1926094	hsa-miR-519b-5p	CLIP-seq
MIRT1926095	hsa-miR-519c-5p	CLIP-seq
MIRT1926096	hsa-miR-520c-5p	CLIP-seq
MIRT1926097	hsa-miR-526a	CLIP-seq
MIRT1926098	hsa-miR-548c-3p	CLIP-seq
MIRT1926099	hsa-miR-561	CLIP-seq
MIRT1926100	hsa-miR-580	CLIP-seq
MIRT1926101	hsa-miR-587	CLIP-seq
MIRT1926102	hsa-miR-607	CLIP-seq
MIRT1926103	hsa-miR-624	CLIP-seq
MIRT1926104	hsa-miR-642b	CLIP-seq
MIRT767324	hsa-miR-938	CLIP-seq
MIRT1926105	hsa-miR-944	CLIP-seq
MIRT2167342	hsa-miR-4708-5p	CLIP-seq
MIRT2167343	hsa-miR-106a	CLIP-seq
MIRT2167344	hsa-miR-106b	CLIP-seq
MIRT2167345	hsa-miR-1321	CLIP-seq
MIRT1926054	hsa-miR-1324	CLIP-seq
MIRT767325	hsa-miR-139-3p	CLIP-seq
MIRT2167346	hsa-miR-17	CLIP-seq
MIRT2167347	hsa-miR-20a	CLIP-seq
MIRT2167348	hsa-miR-20b	CLIP-seq
MIRT2167349	hsa-miR-219-5p	CLIP-seq
MIRT767327	hsa-miR-30a	CLIP-seq
MIRT767328	hsa-miR-30b	CLIP-seq
MIRT767329	hsa-miR-30c	CLIP-seq
MIRT767330	hsa-miR-30d	CLIP-seq
MIRT767331	hsa-miR-30e	CLIP-seq
MIRT2167350	hsa-miR-3154	CLIP-seq
MIRT1926066	hsa-miR-3166	CLIP-seq
MIRT1926067	hsa-miR-337-3p	CLIP-seq
MIRT1926068	hsa-miR-340	CLIP-seq
MIRT767332	hsa-miR-3607-3p	CLIP-seq
MIRT767309	hsa-miR-3654	CLIP-seq
MIRT1926072	hsa-miR-3682-5p	CLIP-seq
MIRT1926076	hsa-miR-384	CLIP-seq
MIRT2167351	hsa-miR-3974	CLIP-seq
MIRT1926078	hsa-miR-4275	CLIP-seq
MIRT767333	hsa-miR-4278	CLIP-seq
MIRT2167352	hsa-miR-4324	CLIP-seq
MIRT2167353	hsa-miR-4493	CLIP-seq
MIRT767314	hsa-miR-4638-3p	CLIP-seq
MIRT2167354	hsa-miR-4684-5p	CLIP-seq
MIRT767336	hsa-miR-4716-3p	CLIP-seq
MIRT2167355	hsa-miR-4735-5p	CLIP-seq
MIRT767337	hsa-miR-4736	CLIP-seq
MIRT2167356	hsa-miR-4739	CLIP-seq
MIRT2167357	hsa-miR-4756-5p	CLIP-seq
MIRT1926089	hsa-miR-4758-3p	CLIP-seq
MIRT2167358	hsa-miR-4768-5p	CLIP-seq
MIRT1926090	hsa-miR-4771	CLIP-seq
MIRT2167359	hsa-miR-4782-3p	CLIP-seq
MIRT2167360	hsa-miR-4793-5p	CLIP-seq
MIRT767338	hsa-miR-486-3p	CLIP-seq
MIRT2167361	hsa-miR-519a	CLIP-seq
MIRT2167362	hsa-miR-519b-3p	CLIP-seq
MIRT2167363	hsa-miR-519c-3p	CLIP-seq
MIRT2167364	hsa-miR-519d	CLIP-seq
MIRT2167365	hsa-miR-532-3p	CLIP-seq
MIRT767339	hsa-miR-548g	CLIP-seq
MIRT2167366	hsa-miR-548n	CLIP-seq
MIRT2167367	hsa-miR-548t	CLIP-seq
MIRT1926104	hsa-miR-642b	CLIP-seq
MIRT2167368	hsa-miR-656	CLIP-seq
MIRT2167369	hsa-miR-759	CLIP-seq
MIRT2167370	hsa-miR-93	CLIP-seq
MIRT2469978	hsa-miR-136	CLIP-seq
MIRT2469979	hsa-miR-151-3p	CLIP-seq
MIRT2469980	hsa-miR-193a-3p	CLIP-seq
MIRT2469981	hsa-miR-193b	CLIP-seq
MIRT2469982	hsa-miR-218	CLIP-seq
MIRT2469983	hsa-miR-3140-3p	CLIP-seq
MIRT2469984	hsa-miR-3176	CLIP-seq
MIRT2469985	hsa-miR-3922-3p	CLIP-seq
MIRT1926079	hsa-miR-4277	CLIP-seq
MIRT2469986	hsa-miR-4463	CLIP-seq
MIRT2469987	hsa-miR-4492	CLIP-seq
MIRT2167353	hsa-miR-4493	CLIP-seq
MIRT2469988	hsa-miR-4498	CLIP-seq
MIRT2469989	hsa-miR-4499	CLIP-seq
MIRT2469990	hsa-miR-4505	CLIP-seq
MIRT2469991	hsa-miR-4508	CLIP-seq
MIRT2469992	hsa-miR-451	CLIP-seq
MIRT2469993	hsa-miR-4757-5p	CLIP-seq
MIRT1926101	hsa-miR-587	CLIP-seq
MIRT2469994	hsa-miR-636	CLIP-seq
MIRT2469995	hsa-miR-762	CLIP-seq
MIRT2469996	hsa-miR-885-5p	CLIP-seq
MIRT2674521	hsa-miR-1206	CLIP-seq
MIRT2469978	hsa-miR-136	CLIP-seq
MIRT2469979	hsa-miR-151-3p	CLIP-seq
MIRT2469982	hsa-miR-218	CLIP-seq
MIRT2674522	hsa-miR-3136-3p	CLIP-seq
MIRT2469983	hsa-miR-3140-3p	CLIP-seq
MIRT2674523	hsa-miR-3926	CLIP-seq
MIRT1926079	hsa-miR-4277	CLIP-seq
MIRT2469986	hsa-miR-4463	CLIP-seq
MIRT2469989	hsa-miR-4499	CLIP-seq
MIRT2469992	hsa-miR-451	CLIP-seq
MIRT2674524	hsa-miR-548s	CLIP-seq
MIRT1926101	hsa-miR-587	CLIP-seq
MIRT2469994	hsa-miR-636	CLIP-seq
MIRT2674525	hsa-miR-663b	CLIP-seq
MIRT2469996	hsa-miR-885-5p	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0003723	Function	RNA binding	EXP	27065196
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IDA	9111310
GO:0003723	Function	RNA binding	IEA
GO:0003725	Function	Double-stranded RNA binding	IBA
GO:0003725	Function	Double-stranded RNA binding	IDA	8995285
GO:0003726	Function	Double-stranded RNA adenosine deaminase activity	IBA
GO:0003726	Function	Double-stranded RNA adenosine deaminase activity	IDA	8995285, 9149227, 32220291
GO:0003726	Function	Double-stranded RNA adenosine deaminase activity	IEA
GO:0003729	Function	MRNA binding	TAS	9149227
GO:0004000	Function	Adenosine deaminase activity	IEA
GO:0005515	Function	Protein binding	IPI	21847096, 32296183, 32814053, 36217029
GO:0005634	Component	Nucleus	IDA	8995285, 32220291
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	18178553, 21289159, 32220291
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006382	Process	Adenosine to inosine editing	IBA
GO:0006382	Process	Adenosine to inosine editing	IDA	18178553, 21289159, 32220291
GO:0006382	Process	Adenosine to inosine editing	IEA
GO:0006396	Process	RNA processing	IBA
GO:0006396	Process	RNA processing	IDA	9149227, 32220291
GO:0006396	Process	RNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007274	Process	Neuromuscular synaptic transmission	IEA
GO:0008251	Function	TRNA-specific adenosine deaminase activity	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	18178553
GO:0016553	Process	Base conversion or substitution editing	IDA	9149227, 32220291
GO:0016787	Function	Hydrolase activity	IEA
GO:0019239	Function	Deaminase activity	IEA
GO:0021610	Process	Facial nerve morphogenesis	IEA
GO:0021618	Process	Hypoglossal nerve morphogenesis	IEA
GO:0021965	Process	Spinal cord ventral commissure morphogenesis	IEA
GO:0030336	Process	Negative regulation of cell migration	IDA	18178553
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0044387	Process	Negative regulation of protein kinase activity by regulation of protein phosphorylation	IDA	21289159
GO:0045070	Process	Positive regulation of viral genome replication	IMP	21289159
GO:0045087	Process	Innate immune response	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0051726	Process	Regulation of cell cycle	IDA	18178553
GO:0060384	Process	Innervation	IEA
GO:0060415	Process	Muscle tissue morphogenesis	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0097049	Process	Motor neuron apoptotic process	IEA

MIM	HGNC	e!Ensembl
601218	226	ENSG00000197381

P78563

Protein name

Double-stranded RNA-specific editase 1 (EC 3.5.4.37) (RNA-editing deaminase 1) (RNA-editing enzyme 1) (dsRNA adenosine deaminase)

Protein function

Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and

PDB

1ZY7 , 5ED1 , 5ED2 , 5HP2 , 5HP3 , 6D06 , 6VFF , 7KFN , 8E0F , 8E4X , 9D5J , 9D5K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00035	dsrm	79 → 141	Double-stranded RNA binding motif	Domain
PF00035	dsrm	239 → 296	Double-stranded RNA binding motif	Domain
PF02137	A_deamin	370 → 731	Adenosine-deaminase (editase) domain	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain and heart and at lower levels in placenta. Fair expression in lung, liver and kidney. Detected in brain, heart, kidney, lung and liver (at protein level). {ECO:0000269|PubMed:18178553, ECO:0000269|PubMed:91492

Sequence

MDIEDEENMSSSSTDVKENRNLDNVSPKDGSTPGPGEGSQLSNGGGGGPGRKRPLEEGSN
GHSKYRLKKRRKTPGPVLPKNALMQLNEIKPGLQYTLLSQTGPVHAPLFVMSVEVNGQVF
EGSGPTKKKAKLHAAEKALRSFVQFPNASEAHLAMGRTLSVNTDFTSDQADFPDTLFNGF
ETPDKAEPPFYVGSNGDDSFSSSGDLSLSASPVPASLAQPPLPVLPPFPPPSGKNPVMIL
NELRPGLKYDFLSESGESHAKSFVMSVVVDGQFFEGSGRNKKLAKARAAQSALAAIFNLH
LDQTPSRQPIPSEGLQLHLPQVLADAVSRLVLGKFGDLTDNFSSPHARRKVLAGVVMTTG
TDVKDAKVISVSTGTKCINGEYMSDRGLALNDCHAEIISRRSLLRFLYTQLELYLNNKDD
QKRSIFQKSERGGFRLKENVQFHLYISTSPCGDARIFSPHEPILEGSRSYTQAGVQWCNH
GSLQPRPPGLLSDPSTSTFQGAGTTEPADRHPNRKARGQLRTKIESGEGTIPVRSNASIQ
TWDGVLQGERLLTMSCSDKIARWNVVGIQGSLLSIFVEPIYFSSIILGSLYHGDHLSRAM
YQRISNIEDLPPLYTLNKPLLSGISNAEARQPGKAPNFSVNWTVGDSAIEVINATTGKDE
LGRASRLCKHALYCRWMRVHGKVPSHLLRSKITKPNVYHESKLAAKEYQAAKARLFTAFI
KAGLGAWVEKPTEQDQFSLTP

Sequence length

741

Interactions

View interactions

	Reactome
			C6 deamination of adenosine Formation of editosomes by ADAR proteins

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
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	Pathogenic	rs2518287411, rs2518003515, rs2092054613, rs2091682680, rs1364071684, rs1323703791	RCV003152522 RCV003152523 RCV001090010 RCV001090011 RCV001090012 RCV001090013 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (20)

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.
Abnormal CNS myelination	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADARB1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathy	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ 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 (94)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31491024		★★★★★ ★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	27937139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18407364, 18971634, 20372915, 20424386, 22226999, 24115583, 24355598, 27343041, 28045133, 28208729, 29944911, 30448461, 30945056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	18407364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	18178553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	22525274, 23697632, 28913566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	23697632	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	32719099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28913566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	LHGDN	16961545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	15183604, 16733555		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15183604, 16733555, 24443933		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	17908822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28833069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	18708348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28821813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19139135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24386085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	40010639	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22876301, 31491024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32016472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	25673044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29694894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	31039163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31039163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32719099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35271662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30130595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28821813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28821813	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28913566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32220291, 32719099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	32719099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	28913566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30945056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17908822, 22525274, 24509948, 25582055, 28913566, 29146145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24509948, 28167531, 29267965	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36009036	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17908822, 22525274, 24509948, 25582055, 29146145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24509948, 25873329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24509948, 36009036	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28550310	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	29956457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	17071493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	BEFREE	28195308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29637273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32220291, 32719099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	LHGDN	17071493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36796022	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23766440, 24386085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	23766440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22876301	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31491024	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17376196, 17897325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17376196		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	16733555		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	16733555		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	16733555		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	16733555		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	16733555		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	16733555		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	16733555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22404657		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	28833069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28821813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24386085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22876301, 31491024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27373511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17908822, 19139135, 25582055, 31491024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	24443933, 25732952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	32220291, 32719099	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	BEFREE	25916332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	15183604, 24443933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	31039163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22525274, 23697632, 23766440, 28035363, 28167531, 28821813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32433965	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22876301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37547318	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23135352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	PSYGENET_DG	24443933		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rett Syndrome	Rett Syndrome	BEFREE	29078406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	19139135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	35271662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21984433, 24443933		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21984433, 24443933		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	37628792	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32220291, 32719099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency	Pubtator	29070703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28035363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27373511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27373511	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	22404657		★★★★★ ★☆☆☆☆ Found in Text Mining only

ADARB1 (adenosine deaminase RNA specific B1)