FLNC (filamin C)

Gene

• Entrez ID: 2318
• Gene name: Filamin C
• Gene symbol: FLNC
• Synonyms (NCBI Gene): ABP-280, ABP280A, ABPA, ABPL, ARVC15, CMH26, FLN2, MFM5, MPD4, RCM5
• Chromosome: 7
• Chromosome location: 7q32.1
• Summary: This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskele

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111452612	G>A,C	Likely-pathogenic	Splice donor variant
rs111806457	T>A,G	Likely-pathogenic	Splice donor variant
rs112194548	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs112903432	T>C,G	Likely-pathogenic	Splice donor variant
rs113972676	T>A,C	Likely-pathogenic	Splice donor variant
rs143623535	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146063718	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs149641783	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs182845462	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs189525930	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199976790	C>A,T	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, stop gained
rs200215903	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200237564	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201572079	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201635205	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201839252	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201905890	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs368121231	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs368660628	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs369853278	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs370827536	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371599113	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374135903	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs377258966	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387906586	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906587	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs534482249	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs566538377	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs749889670	A>G	Likely-pathogenic	Splice acceptor variant
rs755583250	C>T	Pathogenic	Stop gained, coding sequence variant
rs763330423	AAGT>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs766330686	C>A,G,T	Likely-benign, uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, missense variant, stop gained
rs770606675	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs774945928	A>T	Likely-pathogenic	Splice acceptor variant
rs778781499	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs781135153	G>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs879255639	C>T	Pathogenic	Coding sequence variant, missense variant
rs886037829	C>G	Pathogenic	Missense variant, coding sequence variant
rs886037830	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064795229	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1114167361	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1131692185	GC>CT	Likely-pathogenic	Missense variant, coding sequence variant
rs1346981294	G>A,T	Pathogenic	Splice donor variant
rs1402879259	->ACGTCACA	Pathogenic	Frameshift variant, coding sequence variant
rs1420159591	C>T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant
rs1446694237	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554397197	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554397464	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554397506	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554398092	GGGGAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554398674	TTCTCTGCAGGCGACGTGAGCATCGGC>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1554398705	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554399014	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554399513	->TACC	Pathogenic	Coding sequence variant, frameshift variant
rs1554400021	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554400242	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562988883	C>TCT	Pathogenic	Coding sequence variant, frameshift variant
rs1562991002	T>C	Pathogenic	Coding sequence variant, missense variant
rs1562991776	G>A	Likely-pathogenic	Splice donor variant
rs1562995872	TCAAGTACACCG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1562995883	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1562998062	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1562998858	AAGG>-	Pathogenic	Coding sequence variant, stop gained
rs1562999443	G>A	Pathogenic	Coding sequence variant, missense variant
rs1562999451	A>T	Pathogenic	Coding sequence variant, stop gained
rs1563000044	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1585151245	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1585151331	G>A	Pathogenic	Stop gained, coding sequence variant
rs1585152751	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1585156327	->AAGGGGGATGGCTCCTGCGATGTGC	Pathogenic	Coding sequence variant, frameshift variant
rs1585156450	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1585157354	G>A	Likely-pathogenic	Splice donor variant
rs1585163755	C>T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024106	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT039242	hsa-miR-454-3p	CLASH	23622248
MIRT998844	hsa-miR-3675-5p	CLIP-seq
MIRT998845	hsa-miR-486-3p	CLIP-seq
MIRT998846	hsa-miR-1231	CLIP-seq
MIRT998847	hsa-miR-147	CLIP-seq
MIRT998848	hsa-miR-3688-5p	CLIP-seq
MIRT998849	hsa-miR-4455	CLIP-seq
MIRT998850	hsa-miR-599	CLIP-seq
MIRT998851	hsa-miR-609	CLIP-seq
MIRT998852	hsa-miR-644	CLIP-seq
MIRT1556398	hsa-miR-4505	CLIP-seq
MIRT1556398	hsa-miR-4505	CLIP-seq
MIRT998846	hsa-miR-1231	CLIP-seq
MIRT2533844	hsa-miR-1266	CLIP-seq
MIRT998847	hsa-miR-147	CLIP-seq
MIRT2533845	hsa-miR-187	CLIP-seq
MIRT2533846	hsa-miR-1913	CLIP-seq
MIRT2533847	hsa-miR-19a	CLIP-seq
MIRT2533848	hsa-miR-19b	CLIP-seq
MIRT2533849	hsa-miR-210	CLIP-seq
MIRT2533850	hsa-miR-2861	CLIP-seq
MIRT2533851	hsa-miR-3127-5p	CLIP-seq
MIRT2533852	hsa-miR-3135b	CLIP-seq
MIRT2533853	hsa-miR-3150a-3p	CLIP-seq
MIRT2533854	hsa-miR-3158-3p	CLIP-seq
MIRT2533855	hsa-miR-3175	CLIP-seq
MIRT2533856	hsa-miR-3176	CLIP-seq
MIRT2533857	hsa-miR-3178	CLIP-seq
MIRT2533858	hsa-miR-3180	CLIP-seq
MIRT2533859	hsa-miR-3180-3p	CLIP-seq
MIRT2533860	hsa-miR-3194-5p	CLIP-seq
MIRT2533861	hsa-miR-3196	CLIP-seq
MIRT2533862	hsa-miR-320a	CLIP-seq
MIRT2533863	hsa-miR-320b	CLIP-seq
MIRT2533864	hsa-miR-320c	CLIP-seq
MIRT2533865	hsa-miR-320d	CLIP-seq
MIRT2533866	hsa-miR-320e	CLIP-seq
MIRT2533867	hsa-miR-324-3p	CLIP-seq
MIRT2533868	hsa-miR-331-3p	CLIP-seq
MIRT2533869	hsa-miR-342-5p	CLIP-seq
MIRT2533870	hsa-miR-361-3p	CLIP-seq
MIRT2533871	hsa-miR-3652	CLIP-seq
MIRT2533872	hsa-miR-3657	CLIP-seq
MIRT998848	hsa-miR-3688-5p	CLIP-seq
MIRT2533873	hsa-miR-3689d	CLIP-seq
MIRT2533874	hsa-miR-3714	CLIP-seq
MIRT2533875	hsa-miR-3911	CLIP-seq
MIRT2533876	hsa-miR-3918	CLIP-seq
MIRT2533877	hsa-miR-3922-3p	CLIP-seq
MIRT2533878	hsa-miR-412	CLIP-seq
MIRT2533879	hsa-miR-4258	CLIP-seq
MIRT2533880	hsa-miR-4286	CLIP-seq
MIRT2533881	hsa-miR-4292	CLIP-seq
MIRT2533882	hsa-miR-4308	CLIP-seq
MIRT2533883	hsa-miR-4429	CLIP-seq
MIRT2533884	hsa-miR-4430	CLIP-seq
MIRT2533885	hsa-miR-4447	CLIP-seq
MIRT998849	hsa-miR-4455	CLIP-seq
MIRT2533886	hsa-miR-4472	CLIP-seq
MIRT2533887	hsa-miR-4474-3p	CLIP-seq
MIRT2533888	hsa-miR-4488	CLIP-seq
MIRT1556398	hsa-miR-4505	CLIP-seq
MIRT2533889	hsa-miR-4518	CLIP-seq
MIRT2533890	hsa-miR-4651	CLIP-seq
MIRT2533891	hsa-miR-4656	CLIP-seq
MIRT2533892	hsa-miR-4664-5p	CLIP-seq
MIRT2533893	hsa-miR-4669	CLIP-seq
MIRT2533894	hsa-miR-4687-5p	CLIP-seq
MIRT2533895	hsa-miR-4690-3p	CLIP-seq
MIRT2533896	hsa-miR-4691-5p	CLIP-seq
MIRT2533897	hsa-miR-4697-5p	CLIP-seq
MIRT2533898	hsa-miR-4736	CLIP-seq
MIRT2533899	hsa-miR-4757-5p	CLIP-seq
MIRT2533900	hsa-miR-4778-5p	CLIP-seq
MIRT2533901	hsa-miR-485-5p	CLIP-seq
MIRT2533902	hsa-miR-491-5p	CLIP-seq
MIRT2533903	hsa-miR-510	CLIP-seq
MIRT2533904	hsa-miR-581	CLIP-seq
MIRT2533905	hsa-miR-592	CLIP-seq
MIRT998850	hsa-miR-599	CLIP-seq
MIRT2533906	hsa-miR-608	CLIP-seq
MIRT998851	hsa-miR-609	CLIP-seq
MIRT2533907	hsa-miR-624	CLIP-seq
MIRT2533908	hsa-miR-642b	CLIP-seq
MIRT998852	hsa-miR-644	CLIP-seq
MIRT2533909	hsa-miR-670	CLIP-seq
MIRT2533910	hsa-miR-767-3p	CLIP-seq
MIRT2533911	hsa-miR-939	CLIP-seq
MIRT2533912	hsa-miR-940	CLIP-seq
MIRT998846	hsa-miR-1231	CLIP-seq
MIRT2533844	hsa-miR-1266	CLIP-seq
MIRT998847	hsa-miR-147	CLIP-seq
MIRT2533845	hsa-miR-187	CLIP-seq
MIRT2533846	hsa-miR-1913	CLIP-seq
MIRT2533847	hsa-miR-19a	CLIP-seq
MIRT2533848	hsa-miR-19b	CLIP-seq
MIRT2533849	hsa-miR-210	CLIP-seq
MIRT2533850	hsa-miR-2861	CLIP-seq
MIRT2533851	hsa-miR-3127-5p	CLIP-seq
MIRT2533853	hsa-miR-3150a-3p	CLIP-seq
MIRT2533854	hsa-miR-3158-3p	CLIP-seq
MIRT2533855	hsa-miR-3175	CLIP-seq
MIRT2533856	hsa-miR-3176	CLIP-seq
MIRT2533857	hsa-miR-3178	CLIP-seq
MIRT2533858	hsa-miR-3180	CLIP-seq
MIRT2533859	hsa-miR-3180-3p	CLIP-seq
MIRT2533860	hsa-miR-3194-5p	CLIP-seq
MIRT2533861	hsa-miR-3196	CLIP-seq
MIRT2533862	hsa-miR-320a	CLIP-seq
MIRT2533863	hsa-miR-320b	CLIP-seq
MIRT2533864	hsa-miR-320c	CLIP-seq
MIRT2533865	hsa-miR-320d	CLIP-seq
MIRT2533866	hsa-miR-320e	CLIP-seq
MIRT2533867	hsa-miR-324-3p	CLIP-seq
MIRT2533868	hsa-miR-331-3p	CLIP-seq
MIRT2533869	hsa-miR-342-5p	CLIP-seq
MIRT2533870	hsa-miR-361-3p	CLIP-seq
MIRT2533872	hsa-miR-3657	CLIP-seq
MIRT2681041	hsa-miR-3665	CLIP-seq
MIRT998844	hsa-miR-3675-5p	CLIP-seq
MIRT998848	hsa-miR-3688-5p	CLIP-seq
MIRT2533874	hsa-miR-3714	CLIP-seq
MIRT2533876	hsa-miR-3918	CLIP-seq
MIRT2533877	hsa-miR-3922-3p	CLIP-seq
MIRT2681042	hsa-miR-3934	CLIP-seq
MIRT2533878	hsa-miR-412	CLIP-seq
MIRT2533879	hsa-miR-4258	CLIP-seq
MIRT2533880	hsa-miR-4286	CLIP-seq
MIRT2533881	hsa-miR-4292	CLIP-seq
MIRT2681043	hsa-miR-4302	CLIP-seq
MIRT2533882	hsa-miR-4308	CLIP-seq
MIRT2533883	hsa-miR-4429	CLIP-seq
MIRT998849	hsa-miR-4455	CLIP-seq
MIRT1556398	hsa-miR-4505	CLIP-seq
MIRT2533889	hsa-miR-4518	CLIP-seq
MIRT2533890	hsa-miR-4651	CLIP-seq
MIRT2533892	hsa-miR-4664-5p	CLIP-seq
MIRT2533893	hsa-miR-4669	CLIP-seq
MIRT2533894	hsa-miR-4687-5p	CLIP-seq
MIRT2533895	hsa-miR-4690-3p	CLIP-seq
MIRT2533896	hsa-miR-4691-5p	CLIP-seq
MIRT2533898	hsa-miR-4736	CLIP-seq
MIRT2533899	hsa-miR-4757-5p	CLIP-seq
MIRT2533900	hsa-miR-4778-5p	CLIP-seq
MIRT2533901	hsa-miR-485-5p	CLIP-seq
MIRT998845	hsa-miR-486-3p	CLIP-seq
MIRT2533902	hsa-miR-491-5p	CLIP-seq
MIRT2533903	hsa-miR-510	CLIP-seq
MIRT2533904	hsa-miR-581	CLIP-seq
MIRT2533905	hsa-miR-592	CLIP-seq
MIRT998850	hsa-miR-599	CLIP-seq
MIRT2533906	hsa-miR-608	CLIP-seq
MIRT998851	hsa-miR-609	CLIP-seq
MIRT2533907	hsa-miR-624	CLIP-seq
MIRT2533908	hsa-miR-642b	CLIP-seq
MIRT998852	hsa-miR-644	CLIP-seq
MIRT2533909	hsa-miR-670	CLIP-seq
MIRT2533910	hsa-miR-767-3p	CLIP-seq
MIRT2533911	hsa-miR-939	CLIP-seq
MIRT2533912	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11038172, 16076904, 16631741, 17360532, 17474147, 21223964, 22972877, 33961781
GO:0005737	Component	Cytoplasm	IDA	12393796, 25351925
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0008092	Function	Cytoskeletal protein binding	IPI	17987659
GO:0016020	Component	Membrane	IEA
GO:0016528	Component	Sarcoplasm	IEA
GO:0030018	Component	Z disc	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030506	Function	Ankyrin binding	IEA
GO:0030506	Function	Ankyrin binding	IPI	21223964
GO:0042383	Component	Sarcolemma	IDA	21223964
GO:0042383	Component	Sarcolemma	IEA
GO:0042802	Function	Identical protein binding	IPI	15642266
GO:0043034	Component	Costamere	TAS	21223964
GO:0045171	Component	Intercellular bridge	IDA
GO:0045214	Process	Sarcomere organization	IMP	34405687
GO:0051015	Function	Actin filament binding	IEA
GO:0055001	Process	Muscle cell development	IEA

Other IDs

• MIM: 102565
• HGNC: 3756
• e!Ensembl: ENSG00000128591

Protein

• UniProt ID: Q14315
• Protein name: Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (ABP-L) (Actin-binding-like protein) (Filamin-2) (Gamma-filamin)
• Protein function: Muscle-specific filamin, which plays a central role in sarcomere assembly and organization (PubMed:34405687). Critical for normal myogenesis, it probably functions as a large actin-cross-linking protein with structural functions at the Z lines i
• PDB: 1V05, 2D7M, 2D7N, 2D7O, 2D7P, 2D7Q, 2K9U, 2NQC, 3V8O, 4MGX, 7OUU, 7OUV, 7P0E, 8PA0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	36 → 143	Calponin homology (CH) domain	Domain
  PF00307	CH	159 → 263	Calponin homology (CH) domain	Domain
  PF00630	Filamin	272 → 365	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	372 → 465	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	471 → 562	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	568 → 655	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	664 → 755	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	761 → 858	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	864 → 957	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	963 → 1053	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1059 → 1146	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1152 → 1241	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1247 → 1341	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1347 → 1434	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1440 → 1530	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1536 → 1627	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1633 → 1731	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1773 → 1851	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1856 → 1943	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2038 → 2125	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2205 → 2303	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2311 → 2398	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2406 → 2493	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2502 → 2589	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2632 → 2721	Filamin/ABP280 repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in striated muscles. Weakly expressed in thyroid, fetal brain, fetal lung, retina, spinal cord and bone marrow. Not expressed in testis, pancreas, adrenal gland, placenta, liver and kidney. {ECO:0000269|PubMed:11038172
• Sequence:

  MMNNSGYSDAGLGLGDETDEMPSTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVGKRLTDL
  QRDLSDGLRLIALLEVLSQKRMYRKFHPRPNFRQMKLENVSVALEFLEREHIKLVSIDSK
  AIVDGNLKLILGLIWTLILHYSISMPMWEDEDDEDARKQTPKQRLLGWIQNKVPQLPITN
  FNRDWQDGKALGALVDNCAPGLCPDWEAWDPNQPVENAREAMQQADDWLGVPQVIAPEEI
  VDPNVDEHSVMTYLSQFPKAKLKPGAPVRSKQLNPKKAIAYGPGIEPQGNTVLQPAHFTV
  QTVDAGVGEVLVYIEDPEGHTEEAKVVPNNDKDRTYAVSYVPKVAGLHKVTVLFAGQNIE
  RSPFEVNVGMALGDANKVSARGPGLEPVGNVANKPTYFDIYTAGAGTGDVAVVIVDPQGR
  RDTVEVALEDKGDSTFRCTYRPAMEGPHTVHVAFAGAPITRSPFPVHVSEACNPNACRAS
  GRGLQPKGVRVKEVADFKVFTKGAGSGELKVTVKGPKGTEEPVKVREAGDGVFECEYYPV
  VPGKYVVTITWGGYAIPRSPFEVQVSPEAGVQKVRAWGPGLETGQVGKSADFVVEAIGTE
  VGTLGFSIEGPSQAKIECDDKGDGSCDVRYWPTEPGEYAVHVICDDEDIRDSPFIAHILP
  APPDCFPDKVKAFGPGLEPTGCIVDKPAEFTIDARAAGKGDLKLYAQDADGCPIDIKVIP
  NGDGTFRCSYVPTKPIKHTIIISWGGVNVPKSPFRVNVGEGSHPERVKVYGPGVEKTGLK
  ANEPTYFTVDCSEAGQGDVSIGIKCAPGVVGPAEADIDFDIIKNDNDTFTVKYTPPGAGR
  YTIMVLFANQEIPASPFHIKVDPSHDASKVKAEGPGLNRTGVEVGKPTHFTVLTKGAGKA
  KLDVQFAGTAKGEVVRDFEIIDNHDYSYTVKYTAVQQGNMAVTVTYGGDPVPKSPFVVNV
  APPLDLSKIKVQGLNSKVAVGQEQAFSVNTRGAGGQGQLDVRMTSPSRRPIPCKLEPGGG
  AEAQAVRYMPPEEGPYKVDITYDGHPVPGSPFAVEGVLPPDPSKVCAYGPGLKGGLVGTP
  APFSIDTKGAGTGGLGLTVEGPCEAKIECQDNGDGSCAVSYLPTEPGEYTINILFAEAHI
  PGSPFKATIRPVFDPSKVRASGPGLERGKVGEAATFTVDCSEAGEAELTIEILSDAGVKA
  EVLIHNNADGTYHITYSPAFPGTYTITIKYGGHPVPKFPTRVHVQPAVDTSGVKVSGPGV
  EPHGVLREVTTEFTVDARSLTATGGNHVTARVLNPSGAKTDTYVTDNGDGTYRVQYTAYE
  EGVHLVEVLYDEVAVPKSPFRVGVTEGCDPTRVRAFGPGLEGGLVNKANRFTVETRGAGT
  GGLGLAIEGPSEAKMSCKDNKDGSCTVEYIPFTPGDYDVNITFGGRPIPGSPFRVPVKDV
  VDPGKVKCSGPGLGAGVRARVPQTFTVDCSQAGRAPLQVAVLGPTGVAEPVEVRDNGDGT
  HTVHYTPATDGPYTVAVKYADQEVPRSPFKIKVLPAHDASKVRASGPGLNASGIPASLPV
  EFTIDARDAGEGLLTVQILDPEGKPKKANIRDNGDGTYTVSYLPDMSGRYTITIKYGGDE
  IPYSPFRIHALPTGDASKCLVTVSIGGHGLGACLGPRIQIGQETVITVDAKAAGEGKVTC
  TVSTPDGAELDVDVVENHDGTFDIYYTAPEPGKYVITIRFGGEHIPNSPFHVLACDPLPH
  EEEPSEVPQLRQPYAPPRPGARPTHWATEEPVVPVEPMESMLRPFNLVIPFAVQKGELTG
  EVRMPSGKTARPNITDNKDGTITVRYAPTEKGLHQMGIKYDGNHIPGSPLQFYVDAINSR
  HVSAYGPGLSHGMVNKPATFTIVTKDAGEGGLSLAVEGPSKAEITCKDNKDGTCTVSYLP
  TAPGDYSIIVRFDDKHIPGSPFTAKITGDDSMRTSQLNVGTSTDVSLKITESDLSQLTAS
  IRAPSGNEEPCLLKRLPNRHIGISFTPKEVGEHVVSVRKSGKHVTNSPFKILVGPSEIGD
  ASKVRVWGKGLSEGHTFQVAEFIVDTRNAGYGGLGLSIEGPSKVDINCEDMEDGTCKVTY
  CPTEPGTYIINIKFADKHVPGSPFTVKVTGEGRMKESITRRRQAPSIATIGSTCDLNLKI
  PGNWFQMVSAQERLTRTFTRSSHTYTRTERTEISKTRGGETKREVRVEESTQVGGDPFPA
  VFGDFLGRERLGSFGSITRQQEGEASSQDMTAQVTSPSGKVEAAEIVEGEDSAYSVRFVP
  QEMGPHTVAVKYRGQHVPGSPFQFTVGPLGEGGAHKVRAGGTGLERGVAGVPAEFSIWTR
  EAGAGGLSIAVEGPSKAEIAFEDRKDGSCGVSYVVQEPGDYEVSIKFNDEHIPDSPFVVP
  VASLSDDARRLTVTSLQETGLKVNQPASFAVQLNGARGVIDARVHTPSGAVEECYVSELD
  SDKHTIRFIPHENGVHSIDVKFNGAHIPGSPFKIRVGEQSQAGDPGLVSAYGPGLEGGTT
  GVSSEFIVNTLNAGSGALSVTIDGPSKVQLDCRECPEGHVVTYTPMAPGNYLIAIKYGGP
  QHIVGSPFKAKVTGPRLSGGHSLHETSTVLVETVTKSSSSRGSSYSSIPKFSSDASKVVT
  RGPGLSQAFVGQKNSFTVDCSKAGTNMMMVGVHGPKTPCEEVYVKHMGNRVYNVTYTVKE
  KGDYILIVKWGDESVPGSPFKVKVP

• Sequence length: 2725

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

Cell-extracellular matrix interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs1114167361	RCV001814165	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic; Pathogenic	rs886037830	RCV004786644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhythmogenic right ventricular dysplasia, familial, 15	Pathogenic	rs2536663719	RCV003236958	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Asymmetric septal hypertrophy	Likely pathogenic	rs1808874360	RCV001251029	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Pathogenic; Likely pathogenic	rs2128936386, rs948675422, rs2536659978, rs2536605566, rs2536656290, rs879255639, rs2536648236, rs2536631447, rs2128937065, rs2536670455, rs1554398705, rs111806457, rs748416758, rs1420159591	RCV001541903 RCV006269524 RCV002463867 RCV004798958 RCV003150616 RCV003150143 RCV003229776 RCV003487223 RCV003487225 RCV003487227 RCV000515674 RCV003330798 RCV003150276 RCV003486896	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathy, familial restrictive, 5	Likely pathogenic; Pathogenic	rs879255639, rs2536649091	RCV000239540 RCV003236957	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1465588989, rs757352623, rs1389742580, rs2128937285, rs2128937575, rs1282619643, rs2128936386, rs2128934076, rs2128936511, rs2128933685, rs2128933676, rs2128934390, rs2536605789, rs2536641018, rs2536643678, rs2536640850, rs1404524040, rs2536614894, rs2536662140, rs2536614690, rs1224086145, rs2536659320, rs770913203, rs776889134, rs2536622113, rs1808142277, rs2536669667, rs2536669819, rs2536627048, rs2536627242, rs2536624821, rs2128936028, rs2536635253, rs752448040, rs1808457346, rs1585162066, rs2536642250, rs2536626302, rs1474115309, rs2536630380, rs781674430, rs1585166393, rs879255639, rs886037830, rs2536648236, rs2536627255, rs2536628603, rs2536618234, rs1283989527, rs2536619879, rs2536635788, rs2536605694, rs1329973329, rs1808984299, rs2536659923, rs1808887627, rs2536620957, rs2536624852, rs2536626193, rs2536636926, rs2536637338, rs2536643466, rs2536650493, rs2536650638, rs2536662298, rs770606675, rs781135153, rs867808948, rs1554398674, rs111806457, rs1402879259, rs748416758, rs1554401780, rs1554399513, rs1420159591, rs755583250, rs1554401837, rs1562999451, rs774945928, rs766330686, rs1562998062, rs1563000044, rs1585169831, rs1420394583, rs113972676, rs138193236, rs1808336992, rs1342121466, rs1808888920, rs1808761665, rs1808809268	RCV003365377 RCV005340860 RCV002432069 RCV005841797 RCV005405584 RCV002341827 RCV005831940 RCV005564952 RCV003289306 RCV002344117 RCV003355595 RCV002407181 RCV002451894 RCV002357466 RCV002328006 RCV002355501 RCV002328386 RCV002358051 RCV002368672 RCV002332387 RCV002349446 RCV002355835 RCV002359690 RCV002371023 RCV002371262 RCV002409854 RCV002380134 RCV002380377 RCV002405953 RCV002401536 RCV002389819 RCV002441705 RCV002440057 RCV002435804 RCV004992478 RCV004990836 RCV003308296 RCV005565306 RCV004068627 RCV005405954 RCV003164890 RCV003177280 RCV003372670 RCV004021050 RCV004285636 RCV003288491 RCV003301922 RCV003341560 RCV003341698 RCV003368105 RCV003368107 RCV003358182 RCV005567630 RCV004621909 RCV004366644 RCV004366672 RCV006347899 RCV004511024 RCV004511025 RCV004511046 RCV004511047 RCV004511051 RCV004511059 RCV004511061 RCV004511071 RCV002413329 RCV002356781 RCV005338249 RCV006342376 RCV003302895 RCV002341490 RCV002367971 RCV002384273 RCV002358632 RCV005562400 RCV003303061 RCV004025773 RCV002332477 RCV002334285 RCV002352198 RCV002370018 RCV003362932 RCV005841631 RCV003166124 RCV002424809 RCV002321562 RCV004031663 RCV002320257 RCV002355014 RCV005831749 RCV005405553	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar ataxia	Pathogenic	rs2128938102	RCV001823317	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conduction disorder of the heart	Likely pathogenic; Pathogenic	rs1808809268	RCV001256680	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Desmin-related myofibrillar myopathy	Likely pathogenic; Pathogenic	rs387906587	RCV001535684	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated Cardiomyopathy, Dominant	Likely pathogenic; Pathogenic	rs1809086992, rs762493013, rs1808678197, rs1465588989, rs2128938503, rs2128940335, rs2128932142, rs2128932148, rs2128932161, rs2128932217, rs2128933688, rs2128934432, rs2128935054, rs1808320936, rs757352623, rs2128935287, rs1389742580, rs1367760687, rs2128935921, rs2128936107, rs2128936189, rs2128936516, rs756985550, rs2128937285, rs2128937364, rs2128937575, rs2128937622, rs1282619643, rs2128938104, rs1808781579, rs2128938355, rs2128938360, rs2128938391, rs2128938455, rs2128939085, rs1156444972, rs2128939496, rs2128939508, rs2128939548, rs2128940107, rs2128940399, rs2128936386, rs769390195, rs2128934193, rs2128936173, rs2128934191, rs2128938894, rs2128934500, rs2128937368, rs2128936006, rs376975967, rs2128934867, rs2128935670, rs2128932126, rs2128936072, rs112941619, rs2128936518, rs2128937556, rs111477195, rs1808146842, rs2128938435, rs2128934074, rs1404524040, rs2128934407, rs2128936346, rs2128934883, rs2128938768, rs2128934076, rs2128939369, rs2128938382, rs2128940614, rs2128935124, rs2128936028, rs2128935258, rs2128936089, rs1809161384, rs2128933653, rs1808557594, rs2128938204, rs2128940259, rs2128936511, rs2128935347, rs2128933685, rs1427917546, rs771092335, rs1455396332, rs2128937065, rs2128936119, rs2128934070, rs2128937680, rs2128933676, rs2128934390, rs1563005607, rs2128939337, rs2128939316, rs2128939246, rs2128936013, rs2128934545, rs2128933700, rs2128940130, rs2128939561, rs948675422, rs2128939606, rs2536665281, rs2536641165, rs2536605789, rs770913203, rs776889134, rs1808142277, rs2536635253, rs1808457346, rs2536645729, rs1585162066, rs2536638595, rs2536663696, rs2536659191, rs2536642250, rs2536626302, rs1809110247, rs1808445116, rs2536645862, rs1562996441, rs2536665014, rs773961444, rs2536614846, rs2536664747, rs2536665228, rs2536641185, rs2536622272, rs1808506924, rs2536671106, rs2536635426, rs2536634922, rs2536673900, rs2536621092, rs2536643440, rs2536656549, rs2536665417, rs2536656240, rs2536646677, rs2536661967, rs2536617529, rs2536626315, rs2536621175, rs2536659308, rs1474115309, rs2536660071, rs2536654502, rs1169967969, rs2536656445, rs2536630380, rs2536640869, rs2536646733, rs2536664763, rs2536649067, rs2536631625, rs2536631644, rs2536628266, rs1809149761, rs1562999443, rs879255639, rs886037830, rs1283989527, rs2536619879, rs2536670480, rs2536664725, rs1585169973, rs2536649820, rs2536617663, rs2536665068, rs1345953797, rs1329973329, rs866887062, rs2536641173, rs2536643898, rs2536642169, rs2536621359, rs1808984299, rs1360167769, rs2536664215, rs2536605299, rs2536635905, rs2536648913, rs2536669715, rs2536622343, rs2536659923, rs2536627382, rs2536662367, rs2536641925, rs2536660619, rs2536605120, rs2536620835, rs2536634035, rs2536653154, rs2536618994, rs2536642299, rs2536673700, rs1204536261, rs111324750, rs2536630337, rs2536635707, rs2536634781, rs1346981294, rs2536658893, rs2536663470, rs2536630484, rs1808887627, rs2536646486, rs2536634089, rs2536635261, rs2536665807, rs2536624837, rs2536620957, rs2536646331, rs2536650858, rs2536628112, rs2536640884, rs2128934056, rs2536605481, rs2536617471, rs2536673871, rs2536618454, rs2536614528, rs2536605831, rs2536605672, rs1808458303, rs2536670609, rs2536605624, rs1282812003, rs2536629124, rs121909518, rs2536650493, rs387906587, rs770606675, rs1064795229, rs781135153, rs1114167361, rs1554400703, rs1554397506, rs111452612, rs1554400021, rs867808948, rs1554401756, rs1554398092, rs1554398674, rs1554399014, rs1554397464, rs111806457, rs1402879259, rs748416758, rs1554401780, rs1554399513, rs764539989, rs1420159591, rs1554401830, rs1554402015, rs1554397197, rs755583250, rs1554400242, rs1554400700, rs199976790, rs1446694237, rs1554401581, rs1554401837, rs112903432, rs1562999451, rs1562998858, rs774945928, rs1563001456, rs1563003153, rs1562988883, rs1562991776, rs766330686, rs1563001548, rs1563006133, rs1562998062, rs1563000044, rs371167779, rs1585166795, rs1585151331, rs1585156327, rs1585156701, rs1585163755, rs1585166614, rs1585167678, rs1585168573, rs1585169831, rs1420394583, rs1585171628, rs540386120, rs1554402003, rs113972676, rs1585173340, rs1585156450, rs138193236, rs1417082178, rs745495679, rs1808318504, rs1808336992, rs1808400111, rs761978559, rs1808489575, rs1808508148, rs1808550611, rs1808555459, rs1342121466, rs1808708673, rs1808778979, rs1808888920, rs1808965674, rs1809103569, rs1808585056, rs1808761665, rs1808153476, rs1374893890, rs1808758208, rs1809085817, rs776269505, rs769865678, rs1808872966, rs1809097778, rs1808334682, rs1808400430, rs1808505973, rs1808681247, rs1808918080, rs1808416556, rs1401551498, rs1809109008, rs1808924231, rs1808809268	RCV001325407 RCV001377464 RCV001377041 RCV001378838 RCV001379398 RCV001379084 RCV001388073 RCV001386399 RCV001385393 RCV001384521 RCV001387649 RCV001380250 RCV001383973 RCV001388350 RCV001381189 RCV001380510 RCV001384831 RCV001387665 RCV001381844 RCV001390201 RCV001384942 RCV001380511 RCV001388852 RCV001380194 RCV001389885 RCV001382273 RCV001382767 RCV001386350 RCV001381580 RCV001382707 RCV001387424 RCV001384199 RCV001385781 RCV001383974 RCV001384943 RCV001382761 RCV001381586 RCV001387812 RCV001380147 RCV001381990 RCV001387372 RCV003771662 RCV002538626 RCV002034498 RCV001924894 RCV001974895 RCV001965139 RCV001994548 RCV001999805 RCV001960580 RCV001941736 RCV001900236 RCV001875665 RCV001932047 RCV001950674 RCV001977501 RCV001949283 RCV001949298 RCV002007904 RCV001976391 RCV001942440 RCV001996617 RCV001971152 RCV001926303 RCV001926381 RCV001989956 RCV001921308 RCV001894566 RCV001901247 RCV001901260 RCV002007281 RCV001976571 RCV001993075 RCV002006847 RCV001924347 RCV001957430 RCV001999940 RCV001999988 RCV001971741 RCV001973945 RCV001933828 RCV001942059 RCV002002467 RCV002002477 RCV002037367 RCV001938868 RCV001946967 RCV002050926 RCV002041480 RCV001951159 RCV002044311 RCV001875115 RCV001942297 RCV002001188 RCV001871112 RCV001956089 RCV001953594 RCV001963141 RCV001975564 RCV001949583 RCV001962386 RCV001973664 RCV001984735 RCV001928000 RCV003097792 RCV003774969 RCV003099444 RCV003776155 RCV003103376 RCV003776441 RCV003102891 RCV003061562 RCV003776053 RCV002700133 RCV002671801 RCV002814617 RCV002796563 RCV002819860 RCV002824251 RCV002824865 RCV002857009 RCV002846864 RCV002842880 RCV002856153 RCV002852550 RCV002863827 RCV002863829 RCV002853283 RCV002852167 RCV002848209 RCV002881923 RCV002899239 RCV002899966 RCV002908873 RCV002882058 RCV002886265 RCV002904659 RCV002918913 RCV002972324 RCV002988572 RCV002999735 RCV003021321 RCV003018105 RCV003009847 RCV003003305 RCV003030870 RCV003028803 RCV003045646 RCV003022543 RCV003017360 RCV003034393 RCV003055368 RCV003055373 RCV003027408 RCV003039300 RCV003055702 RCV003063814 RCV003036479 RCV003063934 RCV003065951 RCV005227912 RCV001854932 RCV001223109 RCV001239831 RCV005216065 RCV003777447 RCV003785393 RCV003785560 RCV003795938 RCV003782802 RCV003793423 RCV003780130 RCV003787616 RCV003787793 RCV003788263 RCV003793967 RCV003794031 RCV003791598 RCV003794362 RCV003792329 RCV003807994 RCV003806049 RCV003808291 RCV003806364 RCV003806500 RCV003799612 RCV003791618 RCV003803747 RCV003803916 RCV003804078 RCV003804087 RCV003802992 RCV003803142 RCV003803420 RCV003800811 RCV003800982 RCV003801004 RCV003803588 RCV003803613 RCV003801181 RCV003801455 RCV003792554 RCV003800175 RCV003808478 RCV003809305 RCV003801801 RCV003801810 RCV003810123 RCV003802098 RCV003802245 RCV003802330 RCV003802448 RCV003817887 RCV003817891 RCV003817986 RCV003818021 RCV003813662 RCV003813680 RCV003815719 RCV003809600 RCV003809615 RCV003801653 RCV003809818 RCV003815449 RCV003813075 RCV003813156 RCV003813199 RCV003813340 RCV003807551 RCV003812493 RCV003812826 RCV003812875 RCV003804942 RCV001052798 RCV005216218 RCV001384941 RCV000552507 RCV000701770 RCV000799570 RCV000538844 RCV003766797 RCV000536371 RCV001379592 RCV000529991 RCV000534437 RCV000542796 RCV000547591 RCV000541523 RCV000528633 RCV001382203 RCV001379263 RCV000547143 RCV000554323 RCV000559888 RCV000554121 RCV001854127 RCV000701881 RCV000649061 RCV000649164 RCV000649174 RCV000649143 RCV000649119 RCV000649181 RCV000649082 RCV000649183 RCV000649067 RCV000649171 RCV000689984 RCV000700794 RCV000693137 RCV000690838 RCV000687879 RCV000695927 RCV000706292 RCV000687166 RCV000687431 RCV000702917 RCV000686980 RCV001861966 RCV001067745 RCV000809449 RCV001388295 RCV001373811 RCV000797334 RCV000821675 RCV000807600 RCV000799303 RCV000818175 RCV000793322 RCV000818589 RCV000795762 RCV000794895 RCV000816664 RCV000807110 RCV000797152 RCV000794600 RCV000797177 RCV000795916 RCV001038999 RCV001388841 RCV001241233 RCV001058059 RCV001065667 RCV001066987 RCV001052901 RCV001063821 RCV001043745 RCV001065920 RCV001035700 RCV001046273 RCV001054046 RCV001044407 RCV001056776 RCV001048699 RCV001045974 RCV001038851 RCV001069589 RCV001042206 RCV001065788 RCV001068247 RCV001054013 RCV001035909 RCV005213504 RCV001215001 RCV001214702 RCV001214644 RCV001204082 RCV001205574 RCV001212343 RCV001205002 RCV001212384 RCV001238630 RCV001231735 RCV001234418 RCV001236890 RCV001233108 RCV001243367 RCV001242615 RCV001243023 RCV001231193 RCV001228174 RCV002568754	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Disorder of cardiovascular system	Likely pathogenic	rs2536646361	RCV003994744	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal myopathy with posterior leg and anterior hand involvement	Likely pathogenic; Pathogenic	rs1809086992, rs762493013, rs1808678197, rs1465588989, rs2128938503, rs2128940335, rs2128932142, rs2128932148, rs2128932161, rs2128932217, rs2128933688, rs2128934432, rs2128935054, rs1808320936, rs757352623, rs2128935287, rs1389742580, rs1367760687, rs2128935921, rs2128936107, rs2128936189, rs2128936516, rs756985550, rs2128937285, rs2128937364, rs2128937575, rs2128937622, rs1282619643, rs2128938104, rs1808781579, rs2128938355, rs2128938360, rs2128938391, rs2128938455, rs2128939085, rs1156444972, rs2128939496, rs2128939508, rs2128939548, rs2128940107, rs2128940399, rs2128936386, rs769390195, rs2128934193, rs2128936173, rs2128934191, rs2128938894, rs2128934500, rs2128937368, rs2128936006, rs376975967, rs2128934867, rs2128935670, rs2128932126, rs2128936072, rs112941619, rs2128936518, rs2128937556, rs111477195, rs1808146842, rs2128938435, rs2128934074, rs1404524040, rs2128934407, rs2128936346, rs2128934883, rs2128938768, rs2128934076, rs2128939369, rs2128938382, rs2128940614, rs2128935124, rs2128936028, rs2128935258, rs2128936089, rs1809161384, rs2128933653, rs1808557594, rs2128938204, rs2128940259, rs2128936511, rs2128935347, rs2128933685, rs1427917546, rs771092335, rs1455396332, rs2128937065, rs2128936119, rs2128934070, rs2128937680, rs2128933676, rs2128934390, rs1563005607, rs2128939337, rs2128939316, rs2128939246, rs2128936013, rs2128934545, rs2128933700, rs2128940130, rs2128939561, rs948675422, rs2128939606, rs2536617647, rs2536665281, rs1809098380, rs2536641165, rs2536605789, rs770913203, rs776889134, rs1808142277, rs2536635253, rs1808457346, rs2536645729, rs1585162066, rs2536638595, rs2536663696, rs2536659191, rs2536642250, rs2536626302, rs1809110247, rs1808445116, rs2536645862, rs1562996441, rs2536665014, rs773961444, rs2536614846, rs2536664747, rs2536665228, rs2536641185, rs2536622272, rs1808506924, rs2536671106, rs2536635426, rs2536634922, rs2536673900, rs2536621092, rs2536643440, rs2536656549, rs2536665417, rs2536656240, rs2536646677, rs2536661967, rs2536617529, rs2536626315, rs2536621175, rs2536659308, rs1474115309, rs2536660071, rs2536654502, rs1169967969, rs2536656445, rs2536630380, rs2536640869, rs2536646733, rs2536664763, rs2536649067, rs2536631625, rs2536631644, rs2536628266, rs2536604779, rs1809149761, rs1562999443, rs879255639, rs886037830, rs1283989527, rs2536619879, rs2536670480, rs2536664725, rs1585169973, rs2536649820, rs2536617663, rs2536665068, rs1345953797, rs1329973329, rs866887062, rs2536641173, rs2536643898, rs2536642169, rs2536621359, rs1808984299, rs1360167769, rs2536664215, rs2536605299, rs2536635905, rs2536648913, rs2536669715, rs2536622343, rs2536659923, rs2536627382, rs2536662367, rs2536641925, rs2536660619, rs2536605120, rs2536620835, rs2536634035, rs2536653154, rs2536618994, rs2536642299, rs2536673700, rs1204536261, rs111324750, rs2536630337, rs2536635707, rs2536634781, rs1346981294, rs2536658893, rs2536663470, rs2536630484, rs1808887627, rs2536646486, rs2536634089, rs2536635261, rs2536665807, rs2536624837, rs2536620957, rs2536646331, rs2536650858, rs2536628112, rs2536640884, rs2128934056, rs2536605481, rs2536617471, rs2536673871, rs2536618454, rs2536614528, rs2536605831, rs2536605672, rs1808458303, rs2536670609, rs2536605624, rs1282812003, rs2536629124, rs121909518, rs2536650493, rs387906586, rs387906587, rs770606675, rs1064795229, rs781135153, rs1114167361, rs1554400703, rs1554397506, rs111452612, rs1554400021, rs867808948, rs1554401756, rs1554398092, rs1554398674, rs1554399014, rs1554397464, rs111806457, rs1402879259, rs748416758, rs1554401780, rs1554399513, rs764539989, rs1420159591, rs1554401830, rs1554402015, rs1554397197, rs755583250, rs1554400242, rs1554400700, rs199976790, rs1446694237, rs1554401581, rs1554401837, rs112903432, rs1562999451, rs1562998858, rs774945928, rs1563001456, rs1563003153, rs1562988883, rs1562991776, rs766330686, rs1563001548, rs1563006133, rs1562998062, rs1563000044, rs371167779, rs1585166795, rs1585151331, rs1585156327, rs1585156701, rs1585163755, rs1585166614, rs1585167678, rs1585168573, rs1585169831, rs1420394583, rs1585171628, rs540386120, rs1554402003, rs113972676, rs1585173340, rs1585156450, rs138193236, rs1417082178, rs745495679, rs1808318504, rs1808336992, rs1808400111, rs761978559, rs1808489575, rs1808508148, rs1808550611, rs1808555459, rs1342121466, rs1808708673, rs1808778979, rs1808888920, rs1808965674, rs1809103569, rs1808585056, rs1808761665, rs1808153476, rs1374893890, rs1808758208, rs1809085817, rs776269505, rs769865678, rs1808872966, rs1809097778, rs1808334682, rs1808400430, rs1808505973, rs1808681247, rs1808918080, rs1808416556, rs1401551498, rs1809109008, rs1808924231, rs1808809268	RCV001325407 RCV001377464 RCV001377041 RCV001378838 RCV001379398 RCV001379084 RCV001388073 RCV001386399 RCV001385393 RCV001384521 RCV001387649 RCV001380250 RCV001383973 RCV001388350 RCV001381189 RCV001380510 RCV001384831 RCV001387665 RCV001381844 RCV001390201 RCV001384942 RCV001380511 RCV001388852 RCV001380194 RCV001389885 RCV001382273 RCV001382767 RCV001386350 RCV001381580 RCV001382707 RCV001387424 RCV001384199 RCV001385781 RCV001383974 RCV001384943 RCV001382761 RCV001381586 RCV001387812 RCV001380147 RCV001381990 RCV001387372 RCV003771662 RCV002538626 RCV002034498 RCV001924894 RCV001974895 RCV001965139 RCV001994548 RCV001999805 RCV001960580 RCV001941736 RCV001900236 RCV001875665 RCV001932047 RCV001950674 RCV001977501 RCV001949283 RCV001949298 RCV002007904 RCV001976391 RCV001942440 RCV001996617 RCV001971152 RCV001926303 RCV001926381 RCV001989956 RCV001921308 RCV001894566 RCV001901247 RCV001901260 RCV002007281 RCV001976571 RCV001993075 RCV002006847 RCV001924347 RCV001957430 RCV001999940 RCV001999988 RCV001971741 RCV001973945 RCV001933828 RCV001942059 RCV002002467 RCV002002477 RCV002037367 RCV001938868 RCV001946967 RCV002050926 RCV002041480 RCV001951159 RCV002044311 RCV001875115 RCV001942297 RCV002001188 RCV001871112 RCV001956089 RCV001953594 RCV001963141 RCV001975564 RCV001949583 RCV001962386 RCV001973664 RCV001984735 RCV001928000 RCV002284052 RCV003097792 RCV003333216 RCV003774969 RCV003099444 RCV003776155 RCV003103376 RCV003776441 RCV003102891 RCV003061562 RCV003776053 RCV002700133 RCV002671801 RCV002814617 RCV002796563 RCV002819860 RCV002824251 RCV002824865 RCV002857009 RCV002846864 RCV002842880 RCV002856153 RCV002852550 RCV002863827 RCV002863829 RCV002853283 RCV002852167 RCV002848209 RCV002881923 RCV002899239 RCV002899966 RCV002908873 RCV002882058 RCV002886265 RCV002904659 RCV002918913 RCV002972324 RCV002988572 RCV002999735 RCV003021321 RCV003018105 RCV003009847 RCV003003305 RCV003030870 RCV003028803 RCV003045646 RCV003022543 RCV003017360 RCV003034393 RCV003055368 RCV003055373 RCV003027408 RCV003039300 RCV003055702 RCV003063814 RCV003036479 RCV003063934 RCV003065951 RCV003147860 RCV003147881 RCV001854932 RCV001223109 RCV001239831 RCV005216065 RCV003777447 RCV003785393 RCV003785560 RCV003795938 RCV003782802 RCV003793423 RCV003780130 RCV003787616 RCV003787793 RCV003788263 RCV003793967 RCV003794031 RCV003791598 RCV003794362 RCV003792329 RCV003807994 RCV003806049 RCV003808291 RCV003806364 RCV003806500 RCV003799612 RCV003791618 RCV003803747 RCV003803916 RCV003804078 RCV003804087 RCV003802992 RCV003803142 RCV003803420 RCV003800811 RCV003800982 RCV003801004 RCV003803588 RCV003803613 RCV003801181 RCV003801455 RCV003792554 RCV003800175 RCV003808478 RCV003809305 RCV003801801 RCV003801810 RCV003810123 RCV003802098 RCV003802245 RCV003802330 RCV003802448 RCV003817887 RCV003817891 RCV003817986 RCV003818021 RCV003813662 RCV003813680 RCV003815719 RCV003809600 RCV003809615 RCV003801653 RCV003809818 RCV003815449 RCV003813075 RCV003813156 RCV003813199 RCV003813340 RCV003807551 RCV003812493 RCV003812826 RCV003812875 RCV003804942 RCV001052798 RCV005216218 RCV000022428 RCV000022429 RCV000552507 RCV000701770 RCV000799570 RCV000538844 RCV003766797 RCV000536371 RCV001379592 RCV000529991 RCV000534437 RCV000542796 RCV000547591 RCV000541523 RCV005208716 RCV001382203 RCV001379263 RCV000547143 RCV000554323 RCV000559888 RCV000554121 RCV001854127 RCV000701881 RCV000649061 RCV000649164 RCV000649174 RCV000649143 RCV000649119 RCV000649181 RCV000649082 RCV000649183 RCV000649067 RCV000649171 RCV000689984 RCV000700794 RCV000693137 RCV000690838 RCV000687879 RCV000695927 RCV000706292 RCV000687166 RCV000687431 RCV000702917 RCV000686980 RCV001861966 RCV001067745 RCV000809449 RCV001388295 RCV001373811 RCV000797334 RCV000821675 RCV000807600 RCV000799303 RCV000818175 RCV000793322 RCV000818589 RCV000795762 RCV000794895 RCV000816664 RCV000807110 RCV000797152 RCV000794600 RCV000797177 RCV000795916 RCV001038999 RCV001388841 RCV001241233 RCV001058059 RCV001065667 RCV001066987 RCV001052901 RCV001063821 RCV001043745 RCV001065920 RCV001035700 RCV001046273 RCV001054046 RCV001044407 RCV001056776 RCV001048699 RCV001045974 RCV001038851 RCV001069589 RCV001042206 RCV001065788 RCV001068247 RCV001054013 RCV001035909 RCV005213504 RCV001215001 RCV001214702 RCV001214644 RCV001204082 RCV001205574 RCV001212343 RCV001205002 RCV001212384 RCV001238630 RCV001231735 RCV001234418 RCV001236890 RCV001233108 RCV001243367 RCV001242615 RCV001243023 RCV001231193 RCV001228174 RCV002568754	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FLNC-associated cardiomyopathy	Likely pathogenic	rs1808742803	RCV001253785	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FLNC-related disorder	Likely pathogenic; Pathogenic	rs1585162066, rs2536622272, rs879255639, rs387906587, rs781135153, rs1562998062, rs1563000044	RCV005250255 RCV003898562 RCV004547624 RCV005867791 RCV004748783 RCV004547953 RCV004748962	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy 26	Likely pathogenic; Pathogenic	rs1809086992, rs762493013, rs1808678197, rs1465588989, rs2128938503, rs2128940335, rs2128932142, rs2128932148, rs2128932161, rs2128932217, rs2128933688, rs2128934432, rs2128935054, rs1808320936, rs757352623, rs2128935287, rs1389742580, rs1367760687, rs2128935921, rs2128936107, rs2128936189, rs2128936516, rs756985550, rs2128937285, rs2128937364, rs2128937575, rs2128937622, rs1282619643, rs2128938104, rs1808781579, rs2128938355, rs2128938360, rs2128938391, rs2128938455, rs2128939085, rs1156444972, rs2128939496, rs2128939508, rs2128939548, rs2128940107, rs2128940399, rs2128936867, rs2128936386, rs769390195, rs2128934193, rs2128936173, rs2128934191, rs2128938894, rs2128934500, rs2128937368, rs2128936006, rs376975967, rs2128934867, rs2128935670, rs2128932126, rs2128936072, rs112941619, rs2128936518, rs2128937556, rs111477195, rs1808146842, rs2128938435, rs2128934074, rs1404524040, rs2128934407, rs2128936346, rs2128934883, rs2128938768, rs2128934076, rs2128939369, rs2128938382, rs2128940614, rs2128935124, rs2128936028, rs2128935258, rs2128936089, rs1809161384, rs2128933653, rs1808557594, rs2128938204, rs2128940259, rs2128936511, rs2128935347, rs2128933685, rs1427917546, rs771092335, rs1455396332, rs2128937065, rs2128936119, rs2128934070, rs2128937680, rs2128933676, rs2128934390, rs1563005607, rs2128939337, rs2128939316, rs2128939246, rs2128936013, rs2128934545, rs2128933700, rs2128940130, rs2128939561, rs948675422, rs2128939606, rs2536637714, rs2536665281, rs1809098380, rs2536641165, rs2536605789, rs1224086145, rs770913203, rs776889134, rs1808142277, rs2536635253, rs1808457346, rs2536645729, rs1585162066, rs2536638595, rs2536663696, rs2536659191, rs2536642250, rs2536626302, rs1809110247, rs1808445116, rs2536645862, rs1562996441, rs2536665014, rs773961444, rs2536614846, rs2536664747, rs2536665228, rs2536641185, rs2536622272, rs1808506924, rs2536671106, rs2536635426, rs2536634922, rs2536673900, rs2536621092, rs2536643440, rs2536656549, rs2536665417, rs2536656240, rs2536646677, rs2536661967, rs2536617529, rs2536626315, rs2536621175, rs2536659308, rs1474115309, rs2536660071, rs2536654502, rs1169967969, rs2536656445, rs2536630380, rs2536640869, rs2536646733, rs2536664763, rs2536649067, rs2536631625, rs2536631644, rs2536628266, rs2536604779, rs1809149761, rs2536637317, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037830, rs2536642495, rs2536627146, rs1175359759, rs1392170803, rs755832014, rs757995302, rs2536618234, rs2536646048, rs1283989527, rs2536619879, rs2536648602, rs2536670480, rs2536664725, rs1585169973, rs2536649820, rs2536617663, rs2536665068, rs1345953797, rs1329973329, rs866887062, rs2536641173, rs2536643898, rs2536642169, rs2536621359, rs1808984299, rs1360167769, rs2536664215, rs2536605299, rs2536635905, rs2536648913, rs2536669715, rs2536622343, rs2536659923, rs2536627382, rs2536662367, rs2536641925, rs2536660619, rs2536605120, rs2536620835, rs2536634035, rs2536653154, rs2536618994, rs2536642299, rs2536673700, rs1204536261, rs111324750, rs2536630337, rs2536635707, rs2536634781, rs1346981294, rs2536658893, rs2536663470, rs2536630484, rs1808887627, rs2536646486, rs2536634089, rs2536635261, rs2536665807, rs2536624837, rs2536620957, rs2536646331, rs2536650858, rs2536628112, rs2536640884, rs2128934056, rs2536605481, rs2536617471, rs2536673871, rs2536618454, rs2536614528, rs2536605831, rs2536605672, rs1808458303, rs2536670609, rs2536605624, rs1282812003, rs2536629124, rs2128932114, rs121909518, rs2536650493, rs387906587, rs770606675, rs1064795229, rs781135153, rs1114167361, rs1131692185, rs1554400703, rs1554397506, rs111452612, rs1554400021, rs867808948, rs1554401756, rs1554398092, rs1554398674, rs1554399014, rs1554397464, rs111806457, rs1402879259, rs748416758, rs1554401780, rs1554399513, rs764539989, rs1420159591, rs1554401830, rs1554402015, rs1554397197, rs755583250, rs1554400242, rs1554400700, rs199976790, rs1446694237, rs1554401581, rs1554401837, rs112903432, rs1562999451, rs1562998858, rs774945928, rs1563001456, rs1563003153, rs1562988883, rs1562991776, rs766330686, rs1563001548, rs1563006133, rs1562998062, rs1563000044, rs371167779, rs1585166795, rs1585151331, rs1585156327, rs1585156701, rs1585163755, rs1585166614, rs1585167678, rs1585168573, rs1585169831, rs1420394583, rs1585171628, rs540386120, rs1554402003, rs113972676, rs1585173340, rs1585156450, rs138193236, rs1417082178, rs745495679, rs1808318504, rs1808336992, rs1808400111, rs761978559, rs1808489575, rs1808508148, rs1808550611, rs1808555459, rs1342121466, rs1808708673, rs1808778979, rs1808888920, rs1808965674, rs1809103569, rs1808585056, rs1808761665, rs1808153476, rs1808546796, rs1374893890, rs1808758208, rs1809085817, rs776269505, rs769865678, rs1808872966, rs1809097778, rs1808334682, rs1808400430, rs1808505973, rs1808681247, rs1808918080, rs1808416556, rs1401551498, rs1809109008, rs1808924231, rs1808874360, rs1808809268	RCV001325407 RCV001377464 RCV001377041 RCV001378838 RCV001379398 RCV001379084 RCV001388073 RCV001386399 RCV001385393 RCV001384521 RCV001387649 RCV001380250 RCV001383973 RCV001388350 RCV001381189 RCV001380510 RCV001384831 RCV001387665 RCV001381844 RCV001390201 RCV001384942 RCV001380511 RCV001388852 RCV001380194 RCV001389885 RCV001382273 RCV001382767 RCV001386350 RCV001381580 RCV001382707 RCV001387424 RCV001384199 RCV001385781 RCV001383974 RCV001384943 RCV001382761 RCV001381586 RCV001387812 RCV001380147 RCV001381990 RCV001387372 RCV005622117 RCV003771662 RCV002538626 RCV001771780 RCV001924894 RCV001974895 RCV001965139 RCV001994548 RCV001999805 RCV001960580 RCV001941736 RCV001900236 RCV001875665 RCV001932047 RCV001950674 RCV001977501 RCV001949283 RCV001949298 RCV002007904 RCV001976391 RCV001942440 RCV001996617 RCV001971152 RCV001926303 RCV001926381 RCV001989956 RCV001921308 RCV001894566 RCV001901247 RCV001901260 RCV002007281 RCV001976571 RCV001993075 RCV002006847 RCV001924347 RCV001957430 RCV001999940 RCV001999988 RCV001971741 RCV001973945 RCV001933828 RCV001942059 RCV002002467 RCV002002477 RCV002037367 RCV001938868 RCV001946967 RCV002050926 RCV002041480 RCV001951159 RCV002044311 RCV001875115 RCV001942297 RCV002001188 RCV001871112 RCV001956089 RCV001953594 RCV001963141 RCV001975564 RCV001949583 RCV001962386 RCV001973664 RCV001984735 RCV001928000 RCV002283713 RCV003097792 RCV003333217 RCV003774969 RCV003099444 RCV005412403 RCV003776155 RCV002463377 RCV003776441 RCV003102891 RCV003061562 RCV003776053 RCV002700133 RCV002671801 RCV002814617 RCV002796563 RCV002819860 RCV002824251 RCV002824865 RCV002857009 RCV002846864 RCV002842880 RCV002856153 RCV002852550 RCV002863827 RCV002863829 RCV002853283 RCV002852167 RCV002848209 RCV002881923 RCV002899239 RCV002899966 RCV002908873 RCV002882058 RCV002886265 RCV002904659 RCV002918913 RCV002972324 RCV002988572 RCV002999735 RCV003021321 RCV003018105 RCV003009847 RCV003003305 RCV003030870 RCV003028803 RCV003045646 RCV003022543 RCV003017360 RCV003034393 RCV003055368 RCV003055373 RCV003027408 RCV003039300 RCV003055702 RCV003063814 RCV003036479 RCV003063934 RCV003065951 RCV003147861 RCV003147882 RCV003153028 RCV003156200 RCV000239536 RCV000239587 RCV000239505 RCV001223109 RCV001239831 RCV003236956 RCV003492855 RCV003492856 RCV003492857 RCV003492858 RCV003492859 RCV003492860 RCV003328079 RCV005216065 RCV003777447 RCV003484445 RCV003785393 RCV003785560 RCV003795938 RCV003782802 RCV003793423 RCV003780130 RCV003787616 RCV003787793 RCV003788263 RCV003793967 RCV003794031 RCV003791598 RCV003794362 RCV003792329 RCV003807994 RCV003806049 RCV003808291 RCV003806364 RCV003806500 RCV003799612 RCV003791618 RCV003803747 RCV003803916 RCV003804078 RCV003804087 RCV003802992 RCV003803142 RCV003803420 RCV003800811 RCV003800982 RCV003801004 RCV003803588 RCV003803613 RCV003801181 RCV003801455 RCV003792554 RCV003800175 RCV003808478 RCV003809305 RCV003801801 RCV003801810 RCV003810123 RCV003802098 RCV003802245 RCV003802330 RCV003802448 RCV003817887 RCV003817891 RCV003817986 RCV003818021 RCV003813662 RCV003813680 RCV003815719 RCV003809600 RCV003809615 RCV003801653 RCV003809818 RCV003815449 RCV003813075 RCV003813156 RCV003813199 RCV003813340 RCV003807551 RCV003812493 RCV003812826 RCV003812875 RCV003804942 RCV003991929 RCV001052798 RCV005216218 RCV001384941 RCV000552507 RCV000701770 RCV000799570 RCV000492004 RCV000495855 RCV003766797 RCV000536371 RCV001379592 RCV000529991 RCV000534437 RCV000542796 RCV000547591 RCV000541523 RCV005208716 RCV001382203 RCV001379263 RCV000547143 RCV000554323 RCV000559888 RCV000554121 RCV001854127 RCV000701881 RCV000649061 RCV000649164 RCV000649174 RCV000649143 RCV000649119 RCV000649181 RCV000649082 RCV000649183 RCV000649067 RCV000649171 RCV000689984 RCV000700794 RCV000693137 RCV000690838 RCV000687879 RCV000695927 RCV000706292 RCV000687166 RCV000687431 RCV000702917 RCV000686980 RCV001861966 RCV001067745 RCV000809449 RCV001388295 RCV001373811 RCV000797334 RCV000821675 RCV000807600 RCV000799303 RCV000818175 RCV000793322 RCV000818589 RCV000795762 RCV000794895 RCV000816664 RCV000807110 RCV000797152 RCV000794600 RCV000797177 RCV000795916 RCV001038999 RCV001388841 RCV001241233 RCV001058059 RCV001065667 RCV001066987 RCV001052901 RCV001063821 RCV001043745 RCV001065920 RCV001035700 RCV001046273 RCV001054046 RCV001044407 RCV001056776 RCV001048699 RCV001045974 RCV001038851 RCV001069589 RCV001042206 RCV001065788 RCV001068247 RCV001054013 RCV001035909 RCV001198438 RCV001198228 RCV001215001 RCV001214702 RCV001214644 RCV001204082 RCV001205574 RCV001212343 RCV001205002 RCV001212384 RCV001238630 RCV001231735 RCV001234418 RCV001236890 RCV001233108 RCV001243367 RCV001242615 RCV001243023 RCV001231193 RCV001228174 RCV002225813 RCV002568754	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myofibrillar myopathy	Pathogenic	rs1585173340	RCV000855733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar myopathy 5	Likely pathogenic; Pathogenic	rs1809086992, rs762493013, rs1808678197, rs1465588989, rs2128938503, rs2128940335, rs2128932142, rs2128932148, rs2128932161, rs2128932217, rs2128933688, rs2128934432, rs2128935054, rs1808320936, rs757352623, rs2128935287, rs1389742580, rs1367760687, rs2128935921, rs2128936107, rs2128936189, rs2128936516, rs756985550, rs2128937285, rs2128937364, rs2128937575, rs2128937622, rs1282619643, rs2128938104, rs1808781579, rs2128938355, rs2128938360, rs2128938391, rs2128938455, rs2128939085, rs1156444972, rs2128939496, rs2128939508, rs2128939548, rs2128940107, rs2128940399, rs2128936386, rs769390195, rs2128934193, rs2128936173, rs2128934191, rs2128938894, rs2128934500, rs2128937368, rs2128936006, rs376975967, rs2128934867, rs2128935670, rs2128932126, rs2128936072, rs112941619, rs2128936518, rs2128937556, rs111477195, rs1808146842, rs2128938435, rs2128934074, rs1404524040, rs2128934407, rs2128936346, rs2128934883, rs2128938768, rs2128934076, rs2128939369, rs2128938382, rs2128940614, rs2128935124, rs2128936028, rs2128935258, rs2128936089, rs1809161384, rs2128933653, rs1808557594, rs2128938204, rs2128940259, rs2128936511, rs2128935347, rs2128933685, rs1427917546, rs771092335, rs1455396332, rs2128937065, rs2128936119, rs2128934070, rs2128937680, rs2128933676, rs2128934390, rs1563005607, rs2128939337, rs2128939316, rs2128939246, rs2128936013, rs2128934545, rs2128933700, rs2128940130, rs2128939561, rs948675422, rs2128939606, rs2536665281, rs1809098380, rs2536641165, rs2536605789, rs770913203, rs776889134, rs1808142277, rs2536635253, rs1808457346, rs2536645729, rs1585162066, rs2536638595, rs2536663696, rs2536659191, rs2536642250, rs2536626302, rs1809110247, rs1808445116, rs2536645862, rs1562996441, rs2536665014, rs773961444, rs2536614846, rs2536664747, rs2536665228, rs2536641185, rs2536622272, rs1808506924, rs2536671106, rs2536635426, rs2536634922, rs2536673900, rs2536621092, rs2536643440, rs2536656549, rs2536665417, rs2536656240, rs2536646677, rs2536661967, rs2536617529, rs2536626315, rs2536621175, rs2536659308, rs1474115309, rs2536660071, rs2536654502, rs1169967969, rs2536656445, rs2536630380, rs2536640869, rs2536646733, rs2536664763, rs2536649067, rs2536631625, rs2536631644, rs2536628266, rs2536604779, rs1809149761, rs1562999443, rs879255639, rs886037830, rs2536673906, rs1283989527, rs2536619879, rs2536670480, rs2536664725, rs1585169973, rs2536649820, rs2536617663, rs2536665068, rs1345953797, rs1329973329, rs866887062, rs2536641173, rs2536643898, rs2536642169, rs2536621359, rs1808984299, rs1360167769, rs2536664215, rs2536605299, rs2536635905, rs2536648913, rs2536669715, rs2536622343, rs2536659923, rs2536627382, rs2536662367, rs2536641925, rs2536660619, rs2536605120, rs2536620835, rs2536634035, rs2536653154, rs2536618994, rs2536642299, rs2536673700, rs1204536261, rs111324750, rs2536630337, rs2536635707, rs2536634781, rs1346981294, rs2536658893, rs2536663470, rs2536630484, rs1808887627, rs2536646486, rs2536634089, rs2536635261, rs2536665807, rs2536624837, rs2536620957, rs2536646331, rs2536650858, rs2536628112, rs2536640884, rs2128934056, rs2536605481, rs2536617471, rs2536673871, rs2536618454, rs2536614528, rs2536605831, rs2536605672, rs1808458303, rs2536670609, rs2536605624, rs1282812003, rs2536629124, rs121909518, rs2536650493, rs387906587, rs770606675, rs1064795229, rs781135153, rs1114167361, rs1554400703, rs1554397506, rs111452612, rs1554400021, rs867808948, rs1554401756, rs1554398092, rs1554398674, rs1554399014, rs1554397464, rs111806457, rs1402879259, rs748416758, rs1554401780, rs1554399513, rs764539989, rs1420159591, rs1554401830, rs1554402015, rs1554397197, rs755583250, rs1554400242, rs1554400700, rs199976790, rs1446694237, rs1554401581, rs1554401837, rs112903432, rs1562999451, rs1562998858, rs774945928, rs1563001456, rs1563003153, rs1562988883, rs1562991776, rs766330686, rs1563001548, rs1563006133, rs1562998062, rs1563000044, rs371167779, rs1585166795, rs1585151331, rs1585156327, rs1585156701, rs1585163755, rs1585166614, rs1585167678, rs1585168573, rs1585169831, rs1420394583, rs1585171628, rs540386120, rs1554402003, rs113972676, rs1585173340, rs1585156450, rs138193236, rs1417082178, rs745495679, rs1808318504, rs1808336992, rs1808400111, rs761978559, rs1808489575, rs1808508148, rs1808550611, rs1808555459, rs1342121466, rs1808708673, rs1808778979, rs1808888920, rs1808965674, rs1809103569, rs1808585056, rs1808761665, rs1808153476, rs1374893890, rs1808758208, rs1809085817, rs776269505, rs769865678, rs1808872966, rs1809097778, rs1808334682, rs1808400430, rs1808505973, rs1808681247, rs1808918080, rs1808416556, rs1401551498, rs1809109008, rs1808924231, rs1808809268	RCV001325407 RCV001377464 RCV001377041 RCV001378838 RCV001379398 RCV001379084 RCV001388073 RCV001386399 RCV001385393 RCV001384521 RCV001387649 RCV001380250 RCV001383973 RCV001388350 RCV001381189 RCV001380510 RCV001384831 RCV001387665 RCV001381844 RCV001390201 RCV001384942 RCV001380511 RCV001388852 RCV001380194 RCV001389885 RCV001382273 RCV001382767 RCV001386350 RCV001381580 RCV001382707 RCV001387424 RCV001384199 RCV001385781 RCV001383974 RCV001384943 RCV001382761 RCV001381586 RCV001387812 RCV001380147 RCV001381990 RCV001387372 RCV003771662 RCV002538626 RCV002034498 RCV001924894 RCV001974895 RCV001965139 RCV001994548 RCV001999805 RCV001960580 RCV001941736 RCV001900236 RCV001875665 RCV001932047 RCV001950674 RCV001977501 RCV001949283 RCV001949298 RCV002007904 RCV001976391 RCV001942440 RCV001996617 RCV001971152 RCV001926303 RCV001926381 RCV001989956 RCV001921308 RCV001894566 RCV001901247 RCV001901260 RCV002007281 RCV001976571 RCV001993075 RCV002006847 RCV001924347 RCV001957430 RCV001999940 RCV001999988 RCV001971741 RCV001973945 RCV001933828 RCV001942059 RCV002002467 RCV002002477 RCV002037367 RCV001938868 RCV001946967 RCV002050926 RCV002041480 RCV001951159 RCV002044311 RCV001875115 RCV001942297 RCV002001188 RCV001871112 RCV001956089 RCV001953594 RCV001963141 RCV001975564 RCV001949583 RCV001962386 RCV001973664 RCV001984735 RCV001928000 RCV003097792 RCV003333215 RCV003774969 RCV003099444 RCV003776155 RCV003103376 RCV003776441 RCV003102891 RCV003061562 RCV003776053 RCV002700133 RCV002671801 RCV002814617 RCV002796563 RCV002819860 RCV002824251 RCV002824865 RCV002857009 RCV002846864 RCV002842880 RCV002856153 RCV002852550 RCV002863827 RCV002863829 RCV002853283 RCV002852167 RCV002848209 RCV002881923 RCV002899239 RCV002899966 RCV002908873 RCV002882058 RCV002886265 RCV002904659 RCV002918913 RCV002972324 RCV002988572 RCV002999735 RCV003021321 RCV003018105 RCV003009847 RCV003003305 RCV003030870 RCV003028803 RCV003045646 RCV003022543 RCV003017360 RCV003034393 RCV003055368 RCV003055373 RCV003027408 RCV003039300 RCV003055702 RCV003063814 RCV003036479 RCV003063934 RCV003065951 RCV003147859 RCV003147880 RCV001854932 RCV001223109 RCV001239831 RCV003330178 RCV005216065 RCV003777447 RCV003785393 RCV003785560 RCV003795938 RCV003782802 RCV003793423 RCV003780130 RCV003787616 RCV003787793 RCV003788263 RCV003793967 RCV003794031 RCV003791598 RCV003794362 RCV003792329 RCV003807994 RCV003806049 RCV003808291 RCV003806364 RCV003806500 RCV003799612 RCV003791618 RCV003803747 RCV003803916 RCV003804078 RCV003804087 RCV003802992 RCV003803142 RCV003803420 RCV003800811 RCV003800982 RCV003801004 RCV003803588 RCV003803613 RCV003801181 RCV003801455 RCV003792554 RCV003800175 RCV003808478 RCV003809305 RCV003801801 RCV003801810 RCV003810123 RCV003802098 RCV003802245 RCV003802330 RCV003802448 RCV003817887 RCV003817891 RCV003817986 RCV003818021 RCV003813662 RCV003813680 RCV003815719 RCV003809600 RCV003809615 RCV003801653 RCV003809818 RCV003815449 RCV003813075 RCV003813156 RCV003813199 RCV003813340 RCV003807551 RCV003812493 RCV003812826 RCV003812875 RCV003804942 RCV000019978 RCV005216218 RCV001384941 RCV000552507 RCV000701770 RCV000799570 RCV000538844 RCV003766797 RCV000536371 RCV001379592 RCV000529991 RCV000534437 RCV000542796 RCV000547591 RCV000541523 RCV005208716 RCV001382203 RCV001379263 RCV000547143 RCV000554323 RCV000559888 RCV000554121 RCV001854127 RCV000701881 RCV000649061 RCV000649164 RCV000649174 RCV000649143 RCV000649119 RCV000649181 RCV000649082 RCV000649183 RCV000649067 RCV000649171 RCV000689984 RCV000700794 RCV000693137 RCV000690838 RCV000687879 RCV000695927 RCV000706292 RCV000687166 RCV000687431 RCV000702917 RCV000686980 RCV001861966 RCV001067745 RCV000809449 RCV001388295 RCV001373811 RCV000797334 RCV000821675 RCV000807600 RCV000799303 RCV000818175 RCV000793322 RCV000818589 RCV000795762 RCV000794895 RCV000816664 RCV000807110 RCV000797152 RCV000794600 RCV000797177 RCV000795916 RCV001038999 RCV001388841 RCV001241233 RCV001058059 RCV001065667 RCV001066987 RCV001052901 RCV001063821 RCV001043745 RCV001065920 RCV001035700 RCV001046273 RCV001054046 RCV001044407 RCV001056776 RCV001048699 RCV001045974 RCV001038851 RCV001069589 RCV001042206 RCV001065788 RCV001068247 RCV001054013 RCV001035909 RCV005213504 RCV001215001 RCV001214702 RCV001214644 RCV001204082 RCV001205574 RCV001212343 RCV001205002 RCV001212384 RCV001238630 RCV001231735 RCV001234418 RCV001236890 RCV001233108 RCV001243367 RCV001242615 RCV001243023 RCV001231193 RCV001228174 RCV002568754	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline myopathy	Likely pathogenic	rs2536617485	RCV004587623	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs1808146842, rs2536654806, rs1274340353, rs886037830, rs2536634026, rs1204536261, rs2536662182, rs781135153, rs1402879259, rs766330686, rs1562998062, rs1585169831	RCV004719214 RCV003389265 RCV002465028 RCV004017578 RCV003233333 RCV006249903 RCV004595333 RCV004787779 RCV001543364 RCV003994088 RCV006249679 RCV002466585	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary familial dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs2128940399, rs2536614490, rs573362121, rs2536654806, rs2536664709, rs2536665281, rs2536669631, rs1809098380, rs2128934060, rs2536632037, rs2467203971, rs2536641165, rs1808621822, rs1808663853, rs2536647857, rs2536654502, rs2536628297, rs1562998062, rs1563000044, rs1585171818	RCV003155406 RCV003164438 RCV003164439 RCV003164440 RCV003164441 RCV003164442 RCV003164443 RCV003164444 RCV003164445 RCV003164446 RCV003164447 RCV003164448 RCV003164449 RCV003164450 RCV003164451 RCV005419535 RCV003479739 RCV003166019 RCV004689875 RCV000845427	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Restrictive cardiomyopathy	Likely pathogenic; Pathogenic	rs1808685364, rs1563005534, rs1420394583	RCV001328491 RCV000714272 RCV005250114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs2128938102	RCV001823317	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Pathogenic	rs2536624682	RCV003156715	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARRHYTHMIAS, CARDIAC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, familial restrictive, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital long QT syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog, GenCC ClinGen, GWAS catalog, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART CONDUCTION DISEASE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Limb-girdle muscular dystrophy	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle weakness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHIES, NEMALINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	16487239		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	22226179	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	20124440		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	20124440	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	27908349, 30067491, 31627847, 31924696, 32532510, 33455984, 33978673, 34601126, 37164047	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	30067491, 31627847, 31843279, 31924696, 32532510, 34587765, 34601126, 34634758, 36136372, 37032351, 37164047, 39180012	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	31627847, 31843279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	38404225	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis	Pubtator	36104822	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16487239, 28213689, 28371335		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	37461109	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22595522, 25577646	Associate	★☆☆☆☆ Found in Text Mining only
Camptocormia	Camptocormia	Pubtator	34526477	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19360301		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27626164	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	27811364	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	40179422	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	20124440, 27908349, 29030401, 31627847, 32532510, 33455984, 33874732, 34526477, 34587765, 34601126, 35544052, 36104822, 36560844, 36921598, 37164047, 37622577, 37967257, 38583294, 39472949	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	27206985, 27908349, 29030401, 29119312, 29543670, 29858533, 30260051, 30685713, 30935706, 31245841, 31317183, 31627847, 31843279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	20124440, 27908349, 28296976, 30067491, 30354339, 31627847, 31924696, 32532510, 33455984, 33874732, 33941202, 33978673, 34088019, 34601126, 34634758, 34883448, 36129056, 36194907, 36472615, 37461109, 38583294, 39472949	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	27908349, 29030401, 33455984, 38002985	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	27908349, 29212899, 30067491, 30953456, 36104822, 36560844, 36921598, 39472949	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	27601210, 28436997, 30354339, 31627847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26	Cardiomyopathy	CLINVAR_DG	21520333, 25633252, 26436962, 27908349, 28008423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26	Cardiomyopathy	UNIPROT_DG	25351925, 26666891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26	Cardiomyopathy	GENOMICS_ENGLAND_DG	26666891, 28008423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28436997, 29551499, 31317183, 31768884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	26666891, 29858533, 30260051		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5	CARDIOMYOPATHY	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	25351925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25633252, 27908349		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	39472949	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	22806379	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar Ataxia, Late Onset	Cerebellar Ataxia	BEFREE	22806379		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	22806379		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	22806379	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital idiopathic intestinal pseudoobstruction	Congenital idiopathic intestinal pseudoobstruction	Pubtator	17357080	Associate	★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	29858533		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	12693794, 21277342		★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	21620354, 22961544, 27816332, 29073160		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	21620354, 22961544, 29073160, 31421687	Associate	★☆☆☆☆ Found in Text Mining only
Distal myopathy with posterior leg and anterior hand involvement	Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal upper limb amyotrophy	Distal upper limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	16114131		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	28031525	Associate	★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	28296976, 33941202	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	29551499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated restrictive cardiomyopathy	Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Filaminopathy, autosomal dominant	Myofibrillar myopathy	CLINGEN_DG	10658210, 15929027, 16914736, 18055494, 19050726, 20417099, 22961544, 23109048, 25633252, 26472074, 27633507, 9791010		★☆☆☆☆ Found in Text Mining only
Filaminopathy, autosomal dominant	Myofibrillar myopathy	GENOMICS_ENGLAND_DG	15929027, 22806379, 26666891, 28008423, 29858533		★☆☆☆☆ Found in Text Mining only
Filaminopathy, autosomal dominant	Myofibrillar myopathy	ORPHANET_DG	15929027		★☆☆☆☆ Found in Text Mining only
Filaminopathy, autosomal dominant	Myofibrillar myopathy	CLINVAR_DG	21520333, 25633252, 26436962, 27908349, 28008423		★☆☆☆☆ Found in Text Mining only
Filaminopathy, autosomal dominant	Myofibrillar myopathy	BEFREE	29866061		★☆☆☆☆ Found in Text Mining only
Filaminopathy, autosomal dominant	Myofibrillar myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Frontometaphyseal dysplasia	Frontometaphyseal dysplasia	Pubtator	28348077, 28652603	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	23457265, 26555887		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	26456195		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30867563		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30867563, 39946771	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30867563		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24946857		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24946857, 34404444	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	25208129	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	27908349, 30354339, 39472949	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	20124440, 30354339	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	27574918, 27908349, 28356264, 30118858, 30411535		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	27908349, 30411535		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26956495	Associate	★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	29067630		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	22595522	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	33978673	Associate	★☆☆☆☆ Found in Text Mining only
Larsen Syndrome	Larsen syndrome	Pubtator	16801345, 28652603	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25577646	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28391028		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	28915917		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27626164, 27919788		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	26956495		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	26956495	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28031525		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28031525	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Diffuse	Lymphoma	BEFREE	6687762		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	22595522	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	26456195		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25577646, 29137275		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25577646, 30063986		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21257352, 25577646		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11050075, 11278410, 9006936	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	24361111		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	30935706		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	31421687	Associate	★☆☆☆☆ Found in Text Mining only
Muscle filaminopathy	Muscle Filaminopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	10629222, 12499399		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	10629222, 23155419, 29073160		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	7689010		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	15929027, 18055494, 18764962, 18769253, 19050726, 19085932, 19151983, 20697107, 21620354, 21676617, 22131542, 22706277, 22806379, 22961544, 23109048, 23115302, 24361111, 26342832, 26969713, 27206985, 27633507, 27908349, 28436997, 28915917, 29866061, 30496909, 30685713, 31421687		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	15929027, 19050726, 21620354, 21676617, 22106715, 22806379, 22961544, 23115302, 23238331, 25208129, 27618136, 27908349, 29866061, 31421687, 37174721, 37748332, 39973468	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar Myopathy	Myofibrillar myopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	LHGDN	12480088, 15929027		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	15385448, 19181098, 20578970, 20697107, 22131542, 22961544, 23109048, 26969713, 27633507, 27816332, 28732005, 30685713, 7689010		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, 4	Distal Myopathy	GENOMICS_ENGLAND_DG	15929027, 26666891		★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, 4	Distal Myopathy	CLINVAR_DG	21520333, 25633252, 26436962, 27908349, 28008423		★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, 4	Distal Myopathy	UNIPROT_DG	21620354		★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, 4	Distal Myopathy	ORPHANET_DG	21620354		★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, 4	Distal Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	36104822	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24946857, 27919788, 28184944, 8808693		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	20578970, 29858533		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31011474		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35757478	Associate	★☆☆☆☆ Found in Text Mining only
Other restrictive cardiomyopathy	Restrictive cardiomyopathy	ORPHANET_DG	26666891		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22249249	Associate	★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	26956990	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	26555887		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	25208129	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25577646, 29137275		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	37781794	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19229700, 25577646, 37781794	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	25208129		★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	26666891, 29858533, 30260051		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Restrictive cardiomyopathy	Restrictive cardiomyopathy	CLINVAR_DG	30260051		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	30194514		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28031525		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19360301, 25577646, 30063986		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25577646, 26550574	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	31627847	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	31627847		★☆☆☆☆ Found in Text Mining only
Two-raphe bicuspid aortic valve	Two-Raphe Bicuspid Aortic Valve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	31768884		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Ventricular dysfunction	Pubtator	37164047	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	33978673, 34601126	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Premature Complexes	Ventricular ectopy	Pubtator	31627847	Associate	★☆☆☆☆ Found in Text Mining only