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	1837
Gene name	Dystrobrevin alpha
Gene symbol	DTNA
Synonyms (NCBI Gene)	D18S892EDRP3DTNDTN-ALVNC1MMCKR2
Chromosome	18
Chromosome location	18q12.1
Summary	The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane prot

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894654	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs139872140	C>T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs141981161	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant, non coding transcript variant, initiator codon variant
rs147782267	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs148123045	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs191973037	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant, 3 prime UTR variant
rs775975702	A>G	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1057518968	A>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant

208

Show/Hide all (208)

miRTarBase ID	miRNA	Experiments	Reference
MIRT658861	hsa-miR-8485	HITS-CLIP	23824327
MIRT736541	hsa-miR-301b-5p	Luciferase reporter assayWestern blottingqRT-PCR	32737801
MIRT658861	hsa-miR-8485	HITS-CLIP	23824327
MIRT946681	hsa-miR-2355-5p	CLIP-seq
MIRT946682	hsa-miR-3065-5p	CLIP-seq
MIRT946683	hsa-miR-3613-3p	CLIP-seq
MIRT946684	hsa-miR-3680	CLIP-seq
MIRT946685	hsa-miR-410	CLIP-seq
MIRT946686	hsa-miR-421	CLIP-seq
MIRT946687	hsa-miR-4272	CLIP-seq
MIRT946688	hsa-miR-4420	CLIP-seq
MIRT946689	hsa-miR-4459	CLIP-seq
MIRT946690	hsa-miR-4760-3p	CLIP-seq
MIRT946691	hsa-miR-494	CLIP-seq
MIRT946692	hsa-miR-548aa	CLIP-seq
MIRT946693	hsa-miR-548ac	CLIP-seq
MIRT946694	hsa-miR-548d-3p	CLIP-seq
MIRT946695	hsa-miR-548z	CLIP-seq
MIRT946696	hsa-miR-607	CLIP-seq
MIRT946697	hsa-miR-665	CLIP-seq
MIRT946698	hsa-miR-204	CLIP-seq
MIRT946699	hsa-miR-211	CLIP-seq
MIRT946700	hsa-miR-370	CLIP-seq
MIRT946701	hsa-miR-4263	CLIP-seq
MIRT946702	hsa-miR-4755-5p	CLIP-seq
MIRT946703	hsa-miR-4799-5p	CLIP-seq
MIRT946704	hsa-miR-576-5p	CLIP-seq
MIRT946705	hsa-miR-623	CLIP-seq
MIRT946706	hsa-miR-1226	CLIP-seq
MIRT946707	hsa-miR-1229	CLIP-seq
MIRT946708	hsa-miR-1265	CLIP-seq
MIRT946709	hsa-miR-1273g	CLIP-seq
MIRT946710	hsa-miR-1305	CLIP-seq
MIRT946711	hsa-miR-136	CLIP-seq
MIRT946712	hsa-miR-140-5p	CLIP-seq
MIRT946713	hsa-miR-142-3p	CLIP-seq
MIRT946714	hsa-miR-144	CLIP-seq
MIRT946715	hsa-miR-1468	CLIP-seq
MIRT946716	hsa-miR-1827	CLIP-seq
MIRT946717	hsa-miR-183	CLIP-seq
MIRT946718	hsa-miR-196a	CLIP-seq
MIRT946719	hsa-miR-196b	CLIP-seq
MIRT946720	hsa-miR-19a	CLIP-seq
MIRT946721	hsa-miR-19b	CLIP-seq
MIRT946722	hsa-miR-200b	CLIP-seq
MIRT946723	hsa-miR-200c	CLIP-seq
MIRT946724	hsa-miR-2110	CLIP-seq
MIRT946725	hsa-miR-2392	CLIP-seq
MIRT946726	hsa-miR-2681	CLIP-seq
MIRT946727	hsa-miR-30a	CLIP-seq
MIRT946728	hsa-miR-30b	CLIP-seq
MIRT946729	hsa-miR-30c	CLIP-seq
MIRT946730	hsa-miR-30d	CLIP-seq
MIRT946731	hsa-miR-30e	CLIP-seq
MIRT946732	hsa-miR-3120-5p	CLIP-seq
MIRT946733	hsa-miR-3150a-3p	CLIP-seq
MIRT946734	hsa-miR-345	CLIP-seq
MIRT946735	hsa-miR-3545-5p	CLIP-seq
MIRT946736	hsa-miR-3607-5p	CLIP-seq
MIRT946737	hsa-miR-3646	CLIP-seq
MIRT946738	hsa-miR-365	CLIP-seq
MIRT946739	hsa-miR-3677-5p	CLIP-seq
MIRT946740	hsa-miR-3927	CLIP-seq
MIRT946741	hsa-miR-411	CLIP-seq
MIRT946742	hsa-miR-4260	CLIP-seq
MIRT946743	hsa-miR-4289	CLIP-seq
MIRT946744	hsa-miR-429	CLIP-seq
MIRT946745	hsa-miR-4310	CLIP-seq
MIRT946746	hsa-miR-4450	CLIP-seq
MIRT946747	hsa-miR-4460	CLIP-seq
MIRT946748	hsa-miR-4528	CLIP-seq
MIRT946749	hsa-miR-4540	CLIP-seq
MIRT946750	hsa-miR-4701-5p	CLIP-seq
MIRT946751	hsa-miR-4724-5p	CLIP-seq
MIRT946752	hsa-miR-4733-3p	CLIP-seq
MIRT946753	hsa-miR-496	CLIP-seq
MIRT946754	hsa-miR-518a-5p	CLIP-seq
MIRT946755	hsa-miR-520d-5p	CLIP-seq
MIRT946756	hsa-miR-524-5p	CLIP-seq
MIRT946757	hsa-miR-527	CLIP-seq
MIRT946758	hsa-miR-548g	CLIP-seq
MIRT946759	hsa-miR-588	CLIP-seq
MIRT946760	hsa-miR-616	CLIP-seq
MIRT946761	hsa-miR-670	CLIP-seq
MIRT946762	hsa-miR-889	CLIP-seq
MIRT1980380	hsa-miR-4698	CLIP-seq
MIRT946753	hsa-miR-496	CLIP-seq
MIRT2215404	hsa-miR-122	CLIP-seq
MIRT2215405	hsa-miR-1273e	CLIP-seq
MIRT946710	hsa-miR-1305	CLIP-seq
MIRT946712	hsa-miR-140-5p	CLIP-seq
MIRT946713	hsa-miR-142-3p	CLIP-seq
MIRT946714	hsa-miR-144	CLIP-seq
MIRT2215406	hsa-miR-155	CLIP-seq
MIRT946716	hsa-miR-1827	CLIP-seq
MIRT946718	hsa-miR-196a	CLIP-seq
MIRT946719	hsa-miR-196b	CLIP-seq
MIRT946720	hsa-miR-19a	CLIP-seq
MIRT946721	hsa-miR-19b	CLIP-seq
MIRT946722	hsa-miR-200b	CLIP-seq
MIRT946723	hsa-miR-200c	CLIP-seq
MIRT2215407	hsa-miR-214	CLIP-seq
MIRT2215408	hsa-miR-2277-3p	CLIP-seq
MIRT2215409	hsa-miR-23a	CLIP-seq
MIRT2215410	hsa-miR-23b	CLIP-seq
MIRT2215411	hsa-miR-23c	CLIP-seq
MIRT946682	hsa-miR-3065-5p	CLIP-seq
MIRT946727	hsa-miR-30a	CLIP-seq
MIRT946728	hsa-miR-30b	CLIP-seq
MIRT946729	hsa-miR-30c	CLIP-seq
MIRT946730	hsa-miR-30d	CLIP-seq
MIRT946731	hsa-miR-30e	CLIP-seq
MIRT2215412	hsa-miR-3120-3p	CLIP-seq
MIRT946732	hsa-miR-3120-5p	CLIP-seq
MIRT2215413	hsa-miR-3125	CLIP-seq
MIRT2215414	hsa-miR-3160-3p	CLIP-seq
MIRT2215415	hsa-miR-338-5p	CLIP-seq
MIRT946734	hsa-miR-345	CLIP-seq
MIRT946735	hsa-miR-3545-5p	CLIP-seq
MIRT2215416	hsa-miR-361-5p	CLIP-seq
MIRT2215417	hsa-miR-3619-5p	CLIP-seq
MIRT946737	hsa-miR-3646	CLIP-seq
MIRT2215418	hsa-miR-3660	CLIP-seq
MIRT2215419	hsa-miR-3662	CLIP-seq
MIRT2215420	hsa-miR-3671	CLIP-seq
MIRT946739	hsa-miR-3677-5p	CLIP-seq
MIRT2215421	hsa-miR-3916	CLIP-seq
MIRT946740	hsa-miR-3927	CLIP-seq
MIRT2215422	hsa-miR-3928	CLIP-seq
MIRT2215423	hsa-miR-3942-5p	CLIP-seq
MIRT946741	hsa-miR-411	CLIP-seq
MIRT2215424	hsa-miR-4277	CLIP-seq
MIRT946743	hsa-miR-4289	CLIP-seq
MIRT946744	hsa-miR-429	CLIP-seq
MIRT2215425	hsa-miR-4291	CLIP-seq
MIRT946745	hsa-miR-4310	CLIP-seq
MIRT2215426	hsa-miR-4453	CLIP-seq
MIRT946747	hsa-miR-4460	CLIP-seq
MIRT2215427	hsa-miR-4487	CLIP-seq
MIRT2215428	hsa-miR-4526	CLIP-seq
MIRT946748	hsa-miR-4528	CLIP-seq
MIRT2215429	hsa-miR-4538	CLIP-seq
MIRT2215430	hsa-miR-4668-3p	CLIP-seq
MIRT1980380	hsa-miR-4698	CLIP-seq
MIRT2215431	hsa-miR-4703-5p	CLIP-seq
MIRT2215432	hsa-miR-4717-5p	CLIP-seq
MIRT946751	hsa-miR-4724-5p	CLIP-seq
MIRT2215433	hsa-miR-4753-5p	CLIP-seq
MIRT2215434	hsa-miR-4762-5p	CLIP-seq
MIRT2215435	hsa-miR-4773	CLIP-seq
MIRT946753	hsa-miR-496	CLIP-seq
MIRT2215436	hsa-miR-5096	CLIP-seq
MIRT946754	hsa-miR-518a-5p	CLIP-seq
MIRT946757	hsa-miR-527	CLIP-seq
MIRT2215437	hsa-miR-548ad	CLIP-seq
MIRT2215438	hsa-miR-548c-3p	CLIP-seq
MIRT946758	hsa-miR-548g	CLIP-seq
MIRT2215439	hsa-miR-558	CLIP-seq
MIRT2215440	hsa-miR-603	CLIP-seq
MIRT946696	hsa-miR-607	CLIP-seq
MIRT946760	hsa-miR-616	CLIP-seq
MIRT946761	hsa-miR-670	CLIP-seq
MIRT2215441	hsa-miR-761	CLIP-seq
MIRT946762	hsa-miR-889	CLIP-seq
MIRT2215442	hsa-miR-922	CLIP-seq
MIRT946706	hsa-miR-1226	CLIP-seq
MIRT946732	hsa-miR-3120-5p	CLIP-seq
MIRT946734	hsa-miR-345	CLIP-seq
MIRT2387139	hsa-miR-4328	CLIP-seq
MIRT946752	hsa-miR-4733-3p	CLIP-seq
MIRT2436892	hsa-miR-4753-3p	CLIP-seq
MIRT2436893	hsa-miR-4768-5p	CLIP-seq
MIRT2448566	hsa-miR-3920	CLIP-seq
MIRT2448567	hsa-miR-4762-3p	CLIP-seq
MIRT2519844	hsa-miR-1200	CLIP-seq
MIRT946711	hsa-miR-136	CLIP-seq
MIRT2519845	hsa-miR-3074-5p	CLIP-seq
MIRT2215412	hsa-miR-3120-3p	CLIP-seq
MIRT2519846	hsa-miR-3140-5p	CLIP-seq
MIRT946737	hsa-miR-3646	CLIP-seq
MIRT2519847	hsa-miR-3667-3p	CLIP-seq
MIRT2215423	hsa-miR-3942-5p	CLIP-seq
MIRT946741	hsa-miR-411	CLIP-seq
MIRT2519848	hsa-miR-452	CLIP-seq
MIRT2519849	hsa-miR-4666-3p	CLIP-seq
MIRT2519850	hsa-miR-4667-3p	CLIP-seq
MIRT2215430	hsa-miR-4668-3p	CLIP-seq
MIRT2519851	hsa-miR-4676-3p	CLIP-seq
MIRT2519852	hsa-miR-4691-5p	CLIP-seq
MIRT2215431	hsa-miR-4703-5p	CLIP-seq
MIRT2215436	hsa-miR-5096	CLIP-seq
MIRT946755	hsa-miR-520d-5p	CLIP-seq
MIRT946756	hsa-miR-524-5p	CLIP-seq
MIRT2215438	hsa-miR-548c-3p	CLIP-seq
MIRT946761	hsa-miR-670	CLIP-seq
MIRT2519853	hsa-miR-885-5p	CLIP-seq
MIRT2519854	hsa-miR-936	CLIP-seq
MIRT2215412	hsa-miR-3120-3p	CLIP-seq
MIRT946737	hsa-miR-3646	CLIP-seq
MIRT2215423	hsa-miR-3942-5p	CLIP-seq
MIRT946741	hsa-miR-411	CLIP-seq
MIRT2519849	hsa-miR-4666-3p	CLIP-seq
MIRT2215430	hsa-miR-4668-3p	CLIP-seq
MIRT2215431	hsa-miR-4703-5p	CLIP-seq
MIRT946755	hsa-miR-520d-5p	CLIP-seq
MIRT946756	hsa-miR-524-5p	CLIP-seq
MIRT2215438	hsa-miR-548c-3p	CLIP-seq
MIRT946761	hsa-miR-670	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	9356463, 10767429, 11353857, 19931615, 21115837, 33961781, 35271311
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006941	Process	Striated muscle contraction	TAS	10767327
GO:0007165	Process	Signal transduction	TAS	10767327
GO:0007268	Process	Chemical synaptic transmission	TAS	8845841
GO:0007274	Process	Neuromuscular synaptic transmission	TAS	9119373
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030165	Function	PDZ domain binding	IEA
GO:0030424	Component	Axon	IEA
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IEA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0042383	Component	Sarcolemma	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0099536	Process	Synaptic signaling	IBA

MIM	HGNC	e!Ensembl
601239	3057	ENSG00000134769

Q9Y4J8

Protein name

Dystrobrevin alpha (DTN-A) (Alpha-dystrobrevin) (Dystrophin-related protein 3)

Protein function

May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.

PDB

2E5R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09068	EF-hand_2	16 → 140	EF hand	Domain
PF09069	EF-hand_3	144 → 232	EF-hand	Domain
PF00569	ZZ	238 → 282	Zinc finger, ZZ type	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only expressed in muscle.

Sequence

MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIE
ALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFD
PEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTA
VFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLT
NALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVDTWPPRPVTSMNDTLFSHSVPSSGSP
FITRSSPPKDSEVEQNKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNP
SCMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELE
NKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRR
ELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGD
VQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLV
PSPTSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLEN
ELQMEEYLKQKLQDEAYQVSLQG

Sequence length

743

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy Viral myocarditis

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Left ventricular noncompaction 1	Likely pathogenic	rs1477078144	RCV001594553	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic	rs1568718517	RCV003319259	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (35)

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.
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrhythmia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1HH	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	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
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dilated cardiomyopathy 1HH	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DTNA-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEFT VENTRICULAR NONCOMPACTION	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Conflicting classifications of pathogenicity	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Noncompaction cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systolic heart failure	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	20111909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30120299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35148685	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23727450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	17729299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33895855	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	35148685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28096208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	28714374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38466182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	12899872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	19026398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11238270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	30120299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG	11238270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Left ventricular noncompaction	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	11238270, 20965760, 29118297		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meniere Disease	Meniere Disease	BEFREE	25305078		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meniere Disease	Meniere Disease	GENOMICS_ENGLAND_DG	25305078		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mild Mental Retardation	Mental retardation	BEFREE	23727450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	19184181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	27470294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	LHGDN	12899872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	21673914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	12899872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1	Left ventricular noncompaction	UNIPROT_DG	11238270		★★★★★ ★☆☆☆☆ Found in Text Mining only
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1	Left ventricular noncompaction	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1	Left ventricular noncompaction	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	BEFREE	19026398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31888440	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36514150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

DTNA (dystrobrevin alpha)