ANKRD1 (ankyrin repeat domain 1)

Gene

• Entrez ID: 27063
• Gene name: Ankyrin repeat domain 1
• Gene symbol: ANKRD1
• Synonyms (NCBI Gene): ALRP, C-193, CARP, CVARP, MCARP, bA320F15.2
• Chromosome: 10
• Chromosome location: 10q23.31
• Summary: The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35550482	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign	Missense variant, coding sequence variant
rs150266349	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150797476	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs183061595	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201398260	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs786205461	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs794728971	AA>-	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs794728975	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019931	hsa-miR-375	Microarray	20215506
MIRT025157	hsa-miR-181a-5p	Microarray	17612493
MIRT1545360	hsa-miR-127-5p	CLIP-seq
MIRT1545361	hsa-miR-1293	CLIP-seq
MIRT1545362	hsa-miR-300	CLIP-seq
MIRT1545363	hsa-miR-3115	CLIP-seq
MIRT1545364	hsa-miR-3646	CLIP-seq
MIRT1545365	hsa-miR-381	CLIP-seq
MIRT1545366	hsa-miR-4483	CLIP-seq
MIRT1545367	hsa-miR-4666-3p	CLIP-seq
MIRT1545368	hsa-miR-4747-5p	CLIP-seq
MIRT1545369	hsa-miR-4766-5p	CLIP-seq
MIRT1545370	hsa-miR-760	CLIP-seq
MIRT1555920	hsa-miR-10a	CLIP-seq
MIRT1555921	hsa-miR-10b	CLIP-seq
MIRT1555922	hsa-miR-1914	CLIP-seq
MIRT1545362	hsa-miR-300	CLIP-seq
MIRT1555923	hsa-miR-338-5p	CLIP-seq
MIRT1555924	hsa-miR-33a	CLIP-seq
MIRT1555925	hsa-miR-33b	CLIP-seq
MIRT1545364	hsa-miR-3646	CLIP-seq
MIRT1555926	hsa-miR-3667-3p	CLIP-seq
MIRT1545365	hsa-miR-381	CLIP-seq
MIRT1545367	hsa-miR-4666-3p	CLIP-seq
MIRT1555927	hsa-miR-4729	CLIP-seq
MIRT1555928	hsa-miR-4789-5p	CLIP-seq
MIRT1555929	hsa-miR-5096	CLIP-seq
MIRT1555930	hsa-miR-544	CLIP-seq
MIRT1555931	hsa-miR-582-5p	CLIP-seq
MIRT2384170	hsa-miR-1208	CLIP-seq
MIRT2384171	hsa-miR-1225-5p	CLIP-seq
MIRT2384172	hsa-miR-1236	CLIP-seq
MIRT2384173	hsa-miR-135a	CLIP-seq
MIRT2384174	hsa-miR-135b	CLIP-seq
MIRT2384175	hsa-miR-2117	CLIP-seq
MIRT2384176	hsa-miR-27a	CLIP-seq
MIRT2384177	hsa-miR-27b	CLIP-seq
MIRT2384178	hsa-miR-299-5p	CLIP-seq
MIRT1555924	hsa-miR-33a	CLIP-seq
MIRT1555925	hsa-miR-33b	CLIP-seq
MIRT2384179	hsa-miR-3545-3p	CLIP-seq
MIRT2384180	hsa-miR-3614-5p	CLIP-seq
MIRT2384181	hsa-miR-3622a-3p	CLIP-seq
MIRT2384182	hsa-miR-3622a-5p	CLIP-seq
MIRT2384183	hsa-miR-3622b-3p	CLIP-seq
MIRT2384184	hsa-miR-3653	CLIP-seq
MIRT2384185	hsa-miR-3658	CLIP-seq
MIRT2384186	hsa-miR-412	CLIP-seq
MIRT2384187	hsa-miR-4420	CLIP-seq
MIRT2384188	hsa-miR-4423-3p	CLIP-seq
MIRT2384189	hsa-miR-4511	CLIP-seq
MIRT2384190	hsa-miR-4753-3p	CLIP-seq
MIRT2384191	hsa-miR-4757-3p	CLIP-seq
MIRT1555929	hsa-miR-5096	CLIP-seq
MIRT2384192	hsa-miR-513a-5p	CLIP-seq
MIRT2384193	hsa-miR-548b-3p	CLIP-seq
MIRT1555931	hsa-miR-582-5p	CLIP-seq
MIRT2675014	hsa-miR-4509	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DDIT3	Repression	19299913
TP53	Unknown	20599664

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0002039	Function	P53 binding	IPI	20599664
GO:0003677	Function	DNA binding	IDA	7730328
GO:0003712	Function	Transcription coregulator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	20599664
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	20599664
GO:0005515	Function	Protein binding	IPI	11309420, 19608030, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	7730328, 12054667, 19608030
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	12054667, 17239933
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	19608030
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0030016	Component	Myofibril	IEA
GO:0031432	Function	Titin binding	IEA
GO:0031432	Function	Titin binding	IPI	14583192
GO:0031674	Component	I band	IEA
GO:0031674	Component	I band	ISS	19525294
GO:0032991	Component	Protein-containing complex	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0035994	Process	Response to muscle stretch	IMP	19608030
GO:0042826	Function	Histone deacetylase binding	IPI	20599664
GO:0043065	Process	Positive regulation of apoptotic process	IMP	15805281
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA	20599664
GO:0045214	Process	Sarcomere organization	NAS	11309420
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0050714	Process	Positive regulation of protein secretion	IMP	17239933
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IMP	19525294, 19608030
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IBA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	20599664
GO:0070412	Function	R-SMAD binding	IPI	20599664
GO:0071222	Process	Cellular response to lipopolysaccharide	IDA	7730328
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IDA	17239933
GO:0071347	Process	Cellular response to interleukin-1	IDA	7730328
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	7730328
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	11139470
GO:0141212	Process	Phospholipase C/protein kinase C signal transduction	IEA
GO:2000279	Process	Negative regulation of DNA biosynthetic process	IMP	11139470

Other IDs

• MIM: 609599
• HGNC: 15819
• e!Ensembl: ENSG00000148677

Protein

• UniProt ID: Q15327
• Protein name: Ankyrin repeat domain-containing protein 1 (Cardiac ankyrin repeat protein) (Cytokine-inducible gene C-193 protein) (Cytokine-inducible nuclear protein)
• Protein function: May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells. {ECO:00
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	124 → 216	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	181 → 249	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	218 → 282	Ankyrin repeats (3 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells. {ECO:0000269|PubMed:15805281, ECO:0000269|PubMed:7730328}.
• Sequence:

  MMVLKVEELVTGKKNGNGEAGEFLPEDFRDGEYEAAVTLEKQEDLKTLLAHPVTLGEQQW
  KSEKQREAELKKKKLEQRSKLENLEDLEIIIQLKKRKKYRKTKVPVVKEPEPEIITEPVD
  VPTFLKAALENKLPVVEKFLSDKNNPDVCDEYKRTALHRACLEGHLAIVEKLMEAGAQIE
  FRDMLESTAIHWASRGGNLDVLKLLLNKGAKISARDKLLSTALHVAVRTGHYECAEHLIA
  CEADLNAKDREGDTPLHDAVRLNRYKMIRLLIMYGADLNIKNCAGKTPMDLVLHWQNGTK
  AIFDSLRENSYKTSRIATF

• Sequence length: 319

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

PPARA activates gene expression

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ANKRD1-related dilated cardiomyopathy	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs1018718576, rs756211418, rs143802739, rs1847373157, rs183324142, rs1847407710, rs1316020181, rs1847358948, rs370493814, rs1847364880, rs1208266830, rs1847419665, rs143588078, rs990232406, rs745745873, rs530739375, rs772058319, rs1589508874, rs372353918, rs764933205, rs2120269127, rs2120270893, rs375414155, rs778653977, rs769103645, rs750974250, rs60406118, rs375587589, rs1371295947, rs751818504, rs1847372810, rs1431425358, rs759544911, rs1847330912, rs759737747, rs746944442, rs772918277, rs2120266485, rs1847373286, rs2120269071, rs1370116797, rs2120273578, rs1293523344, rs2120264711, rs79793575, rs10881854, rs11595794, rs764936194, rs376540175, rs2120260391, rs150266349, rs776479970, rs1004430284, rs139885263, rs1482577739, rs746973988, rs377661125, rs2120270838, rs145387010, rs766909540, rs1847405739, rs1181229749, rs1443210840, rs1554827894, rs766545285, rs1376171458, rs752596944, rs746808032, rs1452136258, rs1445123382, rs757647465, rs1379575944, rs2120265092, rs2120266616, rs1847405508, rs764243789, rs1256065834, rs111461553, rs746400470, rs2120273681, rs1554827903, rs1379198018, rs763573338, rs538585155, rs775789003, rs1425477748, rs2120269152, rs768982146, rs1055453381, rs796121587, rs1415990803, rs144770680, rs727502890, rs141376679, rs727502891, rs573892607, rs147484763, rs2492964562, rs2492955138, rs2492960061, rs377074932, rs1407637785, rs766467730, rs769305030, rs2492958764, rs1301819845, rs775666061, rs1847332891, rs997537833, rs2492955611, rs780419708, rs372059040, rs768116191, rs755486196, rs781673866, rs867948483, rs764279574, rs1357453784, rs780993838, rs1284770304, rs577559804, rs757040674, rs2492956847, rs786205461, rs752304055, rs374486076, rs200061926, rs148189486, rs1203978319, rs775935256, rs866397796, rs1321608531, rs183061595, rs1847399314, rs746392266, rs754657888, rs794728975, rs1554827576, rs776158687, rs3839929, rs754771221, rs794728974, rs148979787, rs773314113, rs397517250, rs794728971, rs398014415, rs776659587, rs760365338, rs2492962771, rs756392442, rs762768021, rs1847373621, rs2492956841, rs2492958655, rs1289838055, rs1847406250, rs1847388997, rs375717814, rs1564574609, rs2492964497, rs2492955708, rs765093690, rs2492964545, rs2492964513, rs2492956816, rs777177504, rs751174664, rs145827106, rs142354133, rs397517248, rs1419416855, rs1249693292, rs2492955211, rs1208163863, rs397517249, rs778238821, rs1478559064, rs779127662, rs867923601, rs1028976027, rs2492955227, rs763740281, rs2492956664, rs1404017677, rs2492955103, rs2120264491, rs2492960247, rs1482474273, rs2492955246, rs1487822601, rs796186723, rs2492962643, rs1460361884, rs2492960055, rs1472596628, rs77047181, rs184503777, rs1295040648, rs1359119128, rs758584429, rs1847389077, rs763231739, rs1391201504, rs1290627165, rs1490248243, rs750255548, rs1015674118, rs188706671, rs1400202118, rs770642356, rs72003210, rs1233948209, rs749040843, rs763803536, rs1057522674, rs373898620, rs761485473, rs145211719, rs1060504952, rs775086759, rs759803899, rs914206942, rs1554827420, rs1187266733, rs762041559, rs751739709, rs762660319, rs745799180, rs1554827672, rs751458325, rs1048316962, rs367609929, rs765966193, rs1554827865, rs1323094013, rs1554827664, rs1226440621, rs28730751, rs150797476, rs116511484, rs114435632, rs58762441, rs137914723, rs201398260, rs397517251, rs397517252, rs397517254, rs35550482, rs368343038, rs1415797604, rs1564574541, rs1564574800, rs753476942, rs1589509599, rs991572068, rs762882780, rs995351186, rs1589510880, rs372030578, rs1181799982, rs781049118, rs773950226, rs939747588, rs1028634898, rs1361719174, rs1847332132, rs370857813, rs778060304, rs1847407360, rs139169078, rs1847421976, rs1847365009, rs775584071, rs754717867, rs562300152, rs773773073, rs1847373596, rs369640260, rs774666943, rs1847332383, rs1847372711, rs755834899, rs1401851050, rs779910001, rs1564575040, rs550582183, rs866604612, rs886047480	RCV001317688 RCV001325106 RCV001322297 RCV001315335 RCV001315588 RCV001315490 RCV001327312 RCV001351609 RCV001340030 RCV001351380 RCV001346089 RCV001343870 RCV001372101 RCV001400304 RCV001401820 RCV001408131 RCV001409468 RCV001438911 RCV001430114 RCV001475562 RCV001473916 RCV001458643 RCV001455457 RCV001504689 RCV001502235 RCV002072007 RCV002072042 RCV002072133 RCV001859412 RCV002072315 RCV003771834 RCV002073346 RCV005094931 RCV003642973 RCV005095166 RCV001957870 RCV001928565 RCV001999895 RCV001917693 RCV001972968 RCV001894480 RCV001877369 RCV001877413 RCV001905231 RCV001954476 RCV001940371 RCV002055415 RCV002055416 RCV002055417 RCV001906882 RCV001907666 RCV001987876 RCV002020365 RCV002020506 RCV001997543 RCV001919993 RCV001886406 RCV001920682 RCV001879137 RCV001889020 RCV001879387 RCV002049380 RCV001947943 RCV001946243 RCV001921834 RCV001962518 RCV001934183 RCV002094328 RCV002201879 RCV002206072 RCV002110013 RCV002075263 RCV002211766 RCV002168074 RCV002220966 RCV002104801 RCV002113699 RCV002192713 RCV002102412 RCV002153755 RCV002191631 RCV002217722 RCV002204776 RCV002151662 RCV002076227 RCV002200930 RCV002201221 RCV002178233 RCV002210087 RCV002171843 RCV002110408 RCV002143595 RCV002160916 RCV002144438 RCV002195613 RCV002108954 RCV002120892 RCV002111899 RCV002205236 RCV002218305 RCV002095211 RCV002112440 RCV002132386 RCV002113403 RCV002106933 RCV002205768 RCV002082889 RCV002169568 RCV002115177 RCV002203285 RCV002220319 RCV002216789 RCV002105952 RCV005095737 RCV000823178 RCV001438453 RCV000560866 RCV001326574 RCV001417860 RCV001087948 RCV002301783 RCV002299355 RCV002305086 RCV001414313 RCV003775582 RCV003102610 RCV003103238 RCV003102621 RCV003096667 RCV003528375 RCV003099798 RCV003776539 RCV003528382 RCV005097119 RCV003776408 RCV003098461 RCV003528379 RCV003098534 RCV003103390 RCV003774135 RCV005097329 RCV003068003 RCV003067310 RCV003053284 RCV003068389 RCV003068396 RCV003071722 RCV003061510 RCV001852062 RCV003070315 RCV001852083 RCV000458316 RCV001852084 RCV000690391 RCV003086724 RCV003090215 RCV002611338 RCV002620872 RCV002640559 RCV003112588 RCV001257070 RCV002608581 RCV002515346 RCV000232044 RCV002516926 RCV002609060 RCV001060680 RCV002054178 RCV003765134 RCV001324401 RCV001089378 RCV000544892 RCV000470331 RCV000230441 RCV002054177 RCV002515345 RCV000227678 RCV000802108 RCV002662699 RCV002731631 RCV002742046 RCV002796921 RCV002828295 RCV002825645 RCV002857019 RCV002862334 RCV002914192 RCV002948996 RCV002985457 RCV002993759 RCV002996411 RCV003009928 RCV003037866 RCV003023697 RCV003046846 RCV003030464 RCV003054813 RCV003039818 RCV002515540 RCV001477231 RCV000688280 RCV001440350 RCV000694428 RCV005104246 RCV003528494 RCV003528827 RCV003528597 RCV003528877 RCV003529108 RCV003529179 RCV003529206 RCV003529299 RCV003529702 RCV003529708 RCV003529525 RCV003529600 RCV003527835 RCV003643112 RCV003643104 RCV003643216 RCV003643354 RCV003643314 RCV003643625 RCV003643891 RCV003643778 RCV003643929 RCV003644082 RCV003644072 RCV003644224 RCV003644427 RCV003644376 RCV003642511 RCV003642554 RCV003642569 RCV003642449 RCV003642539 RCV003642729 RCV003642735 RCV003642687 RCV003643423 RCV002056150 RCV003829707 RCV003826842 RCV003836302 RCV003856875 RCV002056153 RCV000559555 RCV003870672 RCV003870801 RCV002056152 RCV002056151 RCV005100575 RCV002524646 RCV002525465 RCV001313194 RCV002061328 RCV002522485 RCV001519608 RCV001482272 RCV000472271 RCV003766806 RCV003642893 RCV000526892 RCV000540768 RCV000547840 RCV000537086 RCV000548656 RCV002061989 RCV001257222 RCV001461218 RCV002531725 RCV002066649 RCV001860364 RCV001061465 RCV000686876 RCV000654866 RCV000654870 RCV000654872 RCV000654869 RCV000654871 RCV000654867 RCV001081064 RCV003764686 RCV001087075 RCV001079945 RCV002054719 RCV000468471 RCV000204566 RCV002054720 RCV000234360 RCV001514558 RCV000228146 RCV001452367 RCV002513510 RCV001081125 RCV000693551 RCV000693167 RCV000705569 RCV000696519 RCV000685455 RCV000701748 RCV000822048 RCV000801584 RCV000821588 RCV000809723 RCV000815319 RCV000811314 RCV000803437 RCV001869300 RCV003642929 RCV001513015 RCV001440375 RCV001469774 RCV001456901 RCV001480081 RCV001055163 RCV001066083 RCV001039841 RCV001045721 RCV001044105 RCV001047453 RCV001056468 RCV005093492 RCV001374005 RCV001220809 RCV001204605 RCV001201715 RCV001221386 RCV001237834 RCV001240057 RCV001242756 RCV001244166 RCV003528282 RCV001879961 RCV001879975 RCV001486076 RCV001307080 RCV001309337 RCV001306664
ANKRD1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs60406118, rs56177217, rs751818504, rs11595794, rs111461553, rs796121587, rs867948483, rs145387010, rs776659587, rs780419708, rs397517248, rs2492958602, rs1491333373, rs2492955702, rs72003210, rs761485473, rs145211719, rs397517250, rs745799180, rs397517252	RCV003940995 RCV003941009 RCV003968473 RCV003948690 RCV003975096 RCV003978780 RCV004731227 RCV003923622 RCV003403810 RCV003937540 RCV004752784 RCV003955412 RCV003967686 RCV003414362 RCV003967332 RCV003967152 RCV003983002 RCV003418129 RCV003902499 RCV003915323 RCV003953065 RCV003952440
Brugada syndrome	Uncertain significance	rs869025363	RCV000208001
Cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs759544911, rs144770680, rs773314113, rs397517250, rs794728971, rs398014415, rs397517248, rs145211719, rs914206942, rs762041559, rs1048316962, rs28730751, rs150797476, rs114435632, rs137914723, rs201398260, rs397517251, rs397517254, rs35550482, rs1416570961	RCV001799344 RCV001798466 RCV000183288 RCV000183289 RCV000183287 RCV000183284 RCV000770308 RCV001170405 RCV002470912 RCV000770302 RCV000770305 RCV000770309 RCV001170404 RCV000770307 RCV000183286 RCV000770306 RCV001798125 RCV000770304 RCV001170403 RCV000770301 RCV000770303
Cardiovascular phenotype	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs1018718576, rs756211418, rs143802739, rs1208266830, rs143588078, rs745745873, rs530739375, rs764933205, rs375414155, rs778653977, rs375587589, rs1408164414, rs1431425358, rs112511807, rs1847373286, rs764936194, rs150266349, rs139885263, rs1482577739, rs377661125, rs752596944, rs2120273681, rs763573338, rs775789003, rs1425477748, rs768982146, rs1415990803, rs144770680, rs141376679, rs573892607, rs147484763, rs2492960061, rs377074932, rs1407637785, rs370001020, rs2492960135, rs2492960113, rs766467730, rs756262750, rs1847372810, rs757357185, rs769305030, rs1407435313, rs2492958764, rs1301819845, rs377313992, rs775666061, rs1847364203, rs1589508855, rs2492962885, rs2492955095, rs766909540, rs1847332891, rs2492955630, rs997537833, rs2492955606, rs2492955611, rs780419708, rs760234190, rs750346292, rs372059040, rs1371537269, rs2120265357, rs768116191, rs755486196, rs781673866, rs867948483, rs1589510859, rs764279574, rs2492962826, rs2492962665, rs2492962577, rs1057521825, rs766962252, rs111855194, rs1302708705, rs1403366948, rs2492961103, rs773244166, rs1847431725, rs1847431695, rs1847406061, rs866997710, rs780993838, rs1284770304, rs757040674, rs786205461, rs374486076, rs145387010, rs200061926, rs201056963, rs148189486, rs183061595, rs746392266, rs754657888, rs794728975, rs794728977, rs776158687, rs754771221, rs148979787, rs776659587, rs760365338, rs762768021, rs2492960991, rs2492962490, rs887010560, rs145827106, rs142354133, rs1847373394, rs1589509100, rs1191329876, rs771333829, rs765256800, rs397517248, rs183324142, rs748104942, rs776479970, rs2492956641, rs1419416855, rs2492962547, rs397517249, rs778238821, rs1478559064, rs184503777, rs1359119128, rs758584429, rs765093690, rs886047480, rs188706671, rs72003210, rs1847400805, rs2120264405, rs28730751, rs886973409, rs995351186, rs770483379, rs1245541899, rs1233948209, rs2492955090, rs773135710, rs2120264491, rs1159310139, rs2492951084, rs749040843, rs763803536, rs145211719, rs763320656, rs759803899, rs914206942, rs1187266733, rs751739709, rs762660319, rs1554827672, rs1554827780, rs1048316962, rs367609929, rs765966193, rs1323094013, rs150797476, rs114435632, rs137914723, rs201398260, rs397517251, rs35550482, rs368343038, rs756392442, rs1564574800, rs753476942, rs1589509599, rs762882780, rs376540175, rs372030578, rs781049118, rs1589510792, rs939747588, rs1028634898, rs370857813, rs778060304, rs139169078, rs1847421976, rs775584071, rs754717867, rs773773073, rs369640260, rs774666943, rs779910001, rs1564575040, rs376432423, rs550582183, rs866604612	RCV002395680 RCV003166904 RCV002377403 RCV004995698 RCV002413893 RCV004037825 RCV002350780 RCV005601783 RCV002405071 RCV006352331 RCV005369917 RCV002425042 RCV005660158 RCV006352382 RCV002343904 RCV002361211 RCV003161160 RCV003164272 RCV002449575 RCV004041374 RCV002346399 RCV005350912 RCV002346383 RCV002337228 RCV002361464 RCV003382842 RCV002346557 RCV004992015 RCV002426710 RCV002453479 RCV000247330 RCV004047692 RCV000621906 RCV002326275 RCV002375708 RCV002330005 RCV002330199 RCV002342512 RCV002347259 RCV002356086 RCV002364176 RCV002353272 RCV002339911 RCV002339992 RCV002335408 RCV002344343 RCV002351614 RCV002351855 RCV002362465 RCV002378168 RCV002394250 RCV002416831 RCV002416850 RCV002416852 RCV002373619 RCV002391544 RCV002391602 RCV002391619 RCV002391620 RCV002393790 RCV002412232 RCV002449998 RCV002365085 RCV002419516 RCV002364719 RCV002364953 RCV002382785 RCV002380145 RCV002376023 RCV002376061 RCV002371656 RCV002383121 RCV002392023 RCV002414530 RCV002401645 RCV002415066 RCV002422122 RCV002432865 RCV002428199 RCV002437381 RCV002437465 RCV002425705 RCV002446305 RCV002437653 RCV002435585 RCV004642119 RCV006342751 RCV005363000 RCV004639159 RCV002426818 RCV000619346 RCV002444689 RCV004992048 RCV000622147 RCV002426864 RCV002444737 RCV002372121 RCV004020209 RCV004639165 RCV003165400 RCV002354486 RCV002326988 RCV000620434 RCV000248424 RCV002408805 RCV005601953 RCV004107500 RCV004120701 RCV004138921 RCV002327076 RCV000254454 RCV003171606 RCV003171607 RCV003171194 RCV000244005 RCV000253076 RCV000250192 RCV000250440 RCV003296218 RCV003310804 RCV003382132 RCV003382133 RCV003382134 RCV003382135 RCV006343024 RCV006343027 RCV004992645 RCV004992755 RCV004992751 RCV004636838 RCV004992171 RCV005659890 RCV002321979 RCV002460066 RCV004413437 RCV004413447 RCV004519538 RCV004519539 RCV004519540 RCV004519541 RCV004519542 RCV004519544 RCV004519545 RCV004519546 RCV004519547 RCV004519548 RCV004519549 RCV002379269 RCV005659915 RCV000619438 RCV002402154 RCV002374656 RCV002420320 RCV002341484 RCV004024405 RCV002341483 RCV002413685 RCV002343171 RCV000618052 RCV000620797 RCV000618783 RCV002420654 RCV002442369 RCV004025941 RCV002440393 RCV000250806 RCV002399382 RCV000621700 RCV000249347 RCV000620745 RCV000245026 RCV004639131 RCV002345302 RCV000252792 RCV002386206 RCV002458313 RCV002424690 RCV002390697 RCV003307463 RCV002336661 RCV002325601 RCV002424860 RCV004629361 RCV002352567 RCV003169262 RCV004994147 RCV003307726 RCV004030596 RCV002379499 RCV004031344 RCV005660021 RCV002445384 RCV002348559 RCV002339514 RCV002436855 RCV003380922 RCV002430057 RCV005660081 RCV002366108 RCV002339714 RCV002411981
Cervical cancer	Benign	rs10881854	RCV005890568
Cholangiocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs3839929, rs794728971, rs398014415, rs397517250, rs58762441, rs137914723	RCV005868057 RCV005868056 RCV005868054 RCV005867823 RCV005867824 RCV005890035
Clear cell carcinoma of kidney	Benign	rs137914723	RCV005890034
Congenital total pulmonary venous return anomaly	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs79793575, rs79341122, rs147484763, rs794728971, rs398014415, rs72003210, rs751458325, rs145326465, rs60700562, rs60923931, rs28730751, rs397517250, rs58762441, rs397517252, rs35550482	RCV000612863 RCV000615730 RCV000603713 RCV000625079 RCV000606925 RCV000603001 RCV000625077 RCV000600228 RCV000625078 RCV000625082 RCV000609707 RCV000614440 RCV000625080 RCV000606197 RCV000614830
Dilated cardiomyopathy 1A	Conflicting classifications of pathogenicity	rs145387010	RCV001256727
Dilated Cardiomyopathy, Dominant	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs727502889, rs3839929, rs397517250, rs794728971, rs60406118, rs71025330, rs886047478, rs143761686, rs766545285, rs72003210	RCV000277119 RCV000366751 RCV000269039 RCV000320750 RCV000336002 RCV000276837 RCV000326667 RCV000381328 RCV000292098 RCV000408001 RCV000383298 RCV000265535 RCV000328801
Gastric cancer	Benign; Likely benign	rs10881854, rs751458325	RCV005890569 RCV005870667
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	rs145387010, rs372030578	RCV000171828 RCV000852626
Hypertrophic cardiomyopathy 1	Uncertain significance	rs1401851050, rs779910001	RCV001256725 RCV001256726
Hypertrophic cardiomyopathy 2	Benign; Likely benign	rs11595794, rs3839929, rs751458325	RCV004595930 RCV004596102 RCV004596303
Left ventricular noncompaction	Uncertain significance	rs367609929	RCV000622433
Long QT syndrome	Benign; Likely benign	rs28730751	RCV000852625
Lung cancer	Conflicting classifications of pathogenicity	rs72003210	RCV005869282
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs794728971	RCV005868055
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs751458325	RCV005870666
Primary dilated cardiomyopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs11595794, rs79341122, rs144770680, rs730880050, rs374486076, rs145387010, rs148189486, rs754657888, rs148979787, rs794728971, rs114144205, rs886047475, rs146219881, rs41286920, rs765093690, rs538475043, rs886047479, rs886047480, rs188706671, rs549813663, rs531523887, rs142439928, rs3939, rs10881855, rs145211719, rs28730751, rs397517249, rs150797476, rs114435632, rs137914723, rs397517251, rs35550482, rs1181799982, rs184423047, rs1301081047, rs137950655, rs192827821, rs17102330, rs150520404, rs775584071, rs1847359872, rs754717867, rs369861544, rs568634889, rs1564575040	RCV000285645 RCV000338260 RCV003447504 RCV000157114 RCV000312353 RCV001104802 RCV000172517 RCV000408044 RCV001104801 RCV000852624 RCV000400847 RCV000330642 RCV000389918 RCV000378225 RCV000337920 RCV000350972 RCV000343317 RCV000372006 RCV000280912 RCV000293714 RCV000346925 RCV000283715 RCV000297037 RCV000392178 RCV000306613 RCV001105940 RCV001105939 RCV001105938 RCV000172518 RCV000172740 RCV000313420 RCV001104799 RCV000172739 RCV001093562 RCV001105849 RCV001108091 RCV001108092 RCV001108093 RCV001108094 RCV001102873 RCV001102874 RCV001104798 RCV001104800 RCV001108169 RCV001102974 RCV001293216
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	rs377074932, rs751174664, rs869025362, rs746392266, rs35550482	RCV000157115 RCV000208253 RCV000208357 RCV000845309 RCV000623947
Systolic heart failure	Conflicting classifications of pathogenicity	rs35550482	RCV000852623
Uterine carcinosarcoma	Benign; Likely benign	rs10881854, rs11595794	RCV005890570 RCV005890572
Uterine corpus endometrial carcinoma	Benign	rs10881854	RCV005890571

Associations from Text Mining
Disease Name	Relationship Type	References
Arrhythmogenic Right Ventricular Dysplasia	Associate	19359327
Biliary Atresia	Associate	34918678
Bipolar Disorder	Associate	33168801
Bone Diseases Metabolic	Associate	35575247
Carcinoma Non Small Cell Lung	Associate	30291293
Carcinoma Renal Cell	Associate	35140327, 40362467
Cardiomyopathies	Stimulate	24709777
Cardiomyopathies	Associate	32344918, 34338756, 40362467
Cardiomyopathy Dilated	Stimulate	19359327, 24709777
Cardiomyopathy Dilated	Associate	19608030, 22892539, 25961010
Cardiomyopathy Hypertrophic	Associate	32344918
Cholestasis Intrahepatic	Associate	34918678
Composite Lymphoma	Associate	27980262
Depressive Disorder	Associate	25961010
Failed Back Surgery Syndrome	Associate	19359327
Ganglioneuroblastoma	Associate	27980262
Heart Defects Congenital	Associate	19589340
Heart Diseases	Associate	25961010
Heart Failure	Associate	19359327, 25961010
Inflammation	Associate	29371118
Kaposi Varicelliform Eruption	Associate	29371118
Kidney Calculi	Associate	36907445
Lung Diseases	Associate	38310103
Lung Neoplasms	Associate	30291293
Neoplasms	Associate	27980262, 30291293, 38310103
Pulmonary Disease Chronic Obstructive	Associate	30111857
Skin Neoplasms	Associate	38310103
Squamous Cell Carcinoma of Head and Neck	Associate	38310103
Thyroid Carcinoma Anaplastic	Associate	35397626
Uterine Cervicitis	Associate	38310103
Ventricular Remodeling	Associate	25961010