DTNA (dystrobrevin alpha)

Gene

• Entrez ID: 1837
• Gene name: Dystrobrevin alpha
• Gene symbol: DTNA
• Synonyms (NCBI Gene): D18S892E, DRP3, DTN, DTN-A, LVNC1, MMCKR2
• Disease Acronyms (UniProt): LVNC1, MMCKR2
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT658861	hsa-miR-8485	HITS-CLIP	23824327
MIRT736541	hsa-miR-301b-5p	Luciferase reporter assay, Western blotting, qRT-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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11353857, 19931615, 21115837
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
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:0030054	Component	Cell junction	IDA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045202	Component	Synapse	IBA	21873635
GO:0099536	Process	Synaptic signaling	IBA	21873635

Other IDs

• MIM: 601239
• HGNC: 3057
• e!Ensembl: ENSG00000134769

Protein

• UniProt ID: 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

Pathways

KEGG:

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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675
Cardiomyopathy	Cardiomyopathies, Left ventricular noncompaction cardiomyopathy	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Hypoplastic left heart syndrome	Hypoplastic Left Heart Syndrome	rs1554284604, rs1843006535
Left ventricular hypertrophy	Left Ventricular Hypertrophy	rs397516037
Left ventricular noncompaction	Left ventricular noncompaction, NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1	rs121913654, rs730880850, rs386134243, rs397515482, rs138110910, rs730880336, rs730880856, rs794729390, rs886037900, rs1114167338, rs1555338658	11238270
Meniere disease	Meniere Disease	rs690016537, rs766753922, rs183758503, rs782787126, rs1003748020	25305078
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	rs1553915256
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar
Myopathy	dilated cardiomyopathy			GenCC
Meniere Disease	Meniere disease			GenCC
Congenital Heart Disease	congenital heart disease			GenCC
Schizophrenia	Schizophrenia			GWAS
Astrocytoma	Astrocytoma			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA
Atrial Fibrillation	Atrial Fibrillation			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	30120299
Atrial Fibrillation	Associate	35148685
Cardiomyopathies	Associate	33895855
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	35148685
Colonic Neoplasms	Associate	28714374
Colorectal Neoplasms	Associate	38466182
Death Sudden	Associate	33895855
Dementia	Associate	30120299
Genetic Diseases Inborn	Associate	29241933
Megalencephalic leukoencephalopathy with subcortical cysts	Associate	30120299
Multiple System Atrophy	Associate	27470294
Stomach Neoplasms	Associate	31888440
Urinary Bladder Neoplasms	Associate	36514150