ACTN2 (actinin alpha 2)

Gene

• Entrez ID: 88
• Gene name: Actinin alpha 2
• Gene symbol: ACTN2
• Synonyms (NCBI Gene): CMD1AA, CMH23, CMYO8, CMYP8, MPD6, MYOCOZ
• Chromosome: 1
• Chromosome location: 1q43
• Summary: Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434525	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-benign, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs139515659	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs142482143	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs148972050	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149433837	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149846886	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922635	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs199955427	A>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200248944	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs201255023	C>A,G,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201920417	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs727502886	G>A	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs727504590	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs763078071	C>G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs770335717	G>A,T	Uncertain-significance, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs772909106	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786204949	G>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs786204950	G>C	Pathogenic	Missense variant, coding sequence variant
rs786204951	A>G	Pathogenic	Missense variant, coding sequence variant
rs786205144	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs794728966	G>A	Pathogenic	Splice acceptor variant
rs1131691370	G>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1253211384	C>T	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1553303871	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1572112489	G>T	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1572114611	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1572140109	T>C	Pathogenic	Coding sequence variant, missense variant
rs1572148902	T>G	Pathogenic	Coding sequence variant, missense variant
rs1572148914	GCCAGAACCATCAATGAGGTGGAGACTCAGATC>-	Pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025892	hsa-miR-7-5p	Microarray	17612493
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT764056	hsa-miR-1	CLIP-seq
MIRT764057	hsa-miR-1255a	CLIP-seq
MIRT764058	hsa-miR-1255b	CLIP-seq
MIRT764059	hsa-miR-1324	CLIP-seq
MIRT764060	hsa-miR-186	CLIP-seq
MIRT764061	hsa-miR-206	CLIP-seq
MIRT764062	hsa-miR-3673	CLIP-seq
MIRT764063	hsa-miR-3688-3p	CLIP-seq
MIRT764064	hsa-miR-4453	CLIP-seq
MIRT764065	hsa-miR-4538	CLIP-seq
MIRT764066	hsa-miR-4765	CLIP-seq
MIRT764067	hsa-miR-520d-5p	CLIP-seq
MIRT764068	hsa-miR-524-5p	CLIP-seq
MIRT764069	hsa-miR-548p	CLIP-seq
MIRT764070	hsa-miR-556-5p	CLIP-seq
MIRT764071	hsa-miR-613	CLIP-seq
MIRT1925159	hsa-miR-23a	CLIP-seq
MIRT1925160	hsa-miR-23b	CLIP-seq
MIRT1925161	hsa-miR-23c	CLIP-seq
MIRT1925162	hsa-miR-3149	CLIP-seq
MIRT1925163	hsa-miR-5096	CLIP-seq
MIRT1925164	hsa-miR-576-3p	CLIP-seq
MIRT2383847	hsa-miR-3120-3p	CLIP-seq
MIRT1925163	hsa-miR-5096	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005178	Function	Integrin binding	IEA
GO:0005178	Function	Integrin binding	TAS	8104223
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9501083, 10427098, 10788519, 10812072, 10861853, 11101506, 11309420, 11389904, 11842093, 11846417, 12559088, 12809483, 12812986, 15205937, 15737636, 15841212, 16902413, 19815520, 19932097, 22972877, 23414517, 24860983, 25416956, 25910212, 26871637, 31413325, 31515488, 32296183
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	25433700
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	NAS	12809483
GO:0005884	Component	Actin filament	TAS	1339456
GO:0005886	Component	Plasma membrane	IDA	19815520
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	IMP	16807302
GO:0007155	Process	Cell adhesion	TAS	10656685
GO:0008092	Function	Cytoskeletal protein binding	IDA	10427098, 11699871
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008307	Function	Structural constituent of muscle	TAS	1339456
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0019904	Function	Protein domain specific binding	IPI	19815520
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	19932097, 19943616, 25433700
GO:0030018	Component	Z disc	IEA
GO:0030035	Process	Microspike assembly	IDA	12356918
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030054	Component	Cell junction	IBA
GO:0030175	Component	Filopodium	IDA	12356918
GO:0030274	Function	LIM domain binding	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0030864	Component	Cortical actin cytoskeleton	IEA
GO:0031093	Component	Platelet alpha granule lumen	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031143	Component	Pseudopodium	IEA
GO:0031143	Component	Pseudopodium	TAS	1629252
GO:0031432	Function	Titin binding	IPI	9501083, 11846417
GO:0042391	Process	Regulation of membrane potential	IMP	10812072
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	9501083, 11101506, 25416956, 25433700, 25502805, 31515488
GO:0042981	Process	Regulation of apoptotic process	NAS	16807302
GO:0042995	Component	Cell projection	IBA
GO:0043197	Component	Dendritic spine	TAS	15841212
GO:0043267	Process	Negative regulation of potassium ion transport	IMP	10812072
GO:0043268	Process	Positive regulation of potassium ion transport	IDA	17110593
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	10812072, 17110593, 17944866, 19943616
GO:0045202	Component	Synapse	IEA
GO:0045214	Process	Sarcomere organization	IMP	25433700
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048041	Process	Focal adhesion assembly	IEA
GO:0048041	Process	Focal adhesion assembly	IMP	16807302
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051373	Function	FATZ binding	IDA	11699871
GO:0051695	Process	Actin filament uncapping	IMP	25433700
GO:0055001	Process	Muscle cell development	IBA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070080	Function	Titin Z domain binding	IMP	25433700
GO:0070080	Function	Titin Z domain binding	IPI	11846417
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	IMP	19815520, 19943616
GO:0086097	Process	Phospholipase C-activating angiotensin-activated signaling pathway	IMP	25433700
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098871	Component	Postsynaptic actin cytoskeleton	IEA
GO:0098973	Function	Structural constituent of postsynaptic actin cytoskeleton	IEA
GO:0098974	Process	Postsynaptic actin cytoskeleton organization	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099092	Component	Postsynaptic density, intracellular component	IEA
GO:0099103	Function	Channel activator activity	IMP	10812072
GO:2000009	Process	Negative regulation of protein localization to cell surface	IMP	10812072
GO:2001137	Process	Positive regulation of endocytic recycling	IEA
GO:2001137	Process	Positive regulation of endocytic recycling	IMP	19815520
GO:2001259	Process	Positive regulation of cation channel activity	IMP	19815520, 19943616

Other IDs

• MIM: 102573
• HGNC: 164
• e!Ensembl: ENSG00000077522

Protein

• UniProt ID: P35609
• Protein name: Alpha-actinin-2 (Alpha-actinin skeletal muscle isoform 2) (F-actin cross-linking protein)
• Protein function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
• PDB: 1H8B, 1HCI, 1QUU, 4D1E, 5A36, 5A37, 5A38, 5A4B, 6SWT, 6TS3, 7A8T, 7A8U, 7B55, 7B56, 7B57
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	38 → 143	Calponin homology (CH) domain	Domain
  PF00307	CH	151 → 258	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	281 → 391	Spectrin repeat	Domain
  PF00435	Spectrin	401 → 506	Spectrin repeat	Domain
  PF00435	Spectrin	516 → 627	Spectrin repeat	Domain
  PF00435	Spectrin	637 → 740	Spectrin repeat	Domain
  PF08726	EFhand_Ca_insen	824 → 890	Ca2+ insensitive EF hand	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in both skeletal and cardiac muscle.
• Sequence:

  MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIE
  NIEEDFRNGLKLMLLLEVISGERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAE
  EIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNIQNFHTSW
  KDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLDAEDIVNTPKP
  DERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRT
  IPWLENRTPEKTMQAMQKKLEDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAF
  MPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLEHLAEKFRQKASTHETWAYGK
  EQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVN
  DRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQ
  DMFIVHSIEEIQSLITAHEQFKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYS
  TVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRRQFAAQANAIGPWIQNKMEEI
  ARSSIQITGALEDQMNQLKQYEHNIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHI
  RVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRA
  CLISMGYDLGEAEFARIMTLVDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILAS
  DKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALDYAAFSSALYGESDL

• Sequence length: 894

Pathways

KEGG:

Cytoskeleton in muscle cells
Arrhythmogenic right ventricular cardiomyopathy

Reactome:

Platelet degranulation
Striated Muscle Contraction
Unblocking of NMDA receptors, glutamate binding and activation
RAF/MAP kinase cascade

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
ACTN2-related disorder	Likely pathogenic; Pathogenic	rs727502886	RCV001265546	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction	Likely pathogenic; Pathogenic	rs727502886, rs786204950, rs786204951	RCV004819191 RCV004819193 RCV004819194	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs727502886, rs786205144	RCV004601116 RCV000621721	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1AA	Likely pathogenic; Pathogenic	rs2102894883, rs727502886, rs2527574499, rs786205144, rs2527614713, rs1572112489, rs755492182	RCV001807984 RCV000169904 RCV002465033 RCV000169907 RCV004594759 RCV001029823 RCV001039302	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs727502886	RCV000150148	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrinsic cardiomyopathy	Likely pathogenic	rs2102916915, rs2527534967	RCV001788845 RCV003994733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, congenital, with structured cores and z-line abnormalities	Likely pathogenic; Pathogenic	rs1572148902, rs1572148914	RCV000855691 RCV000855692	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, distal, 6, adult-onset, autosomal dominant	Likely pathogenic	rs1572140109	RCV000855694	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs727502886	RCV000150148	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs727502886, rs755492182	RCV001206449 RCV001039302	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACTN2-RELATED CARDIAC AND SKELETAL MYOPATHY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular 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
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1AA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central core myopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY 8	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ 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 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syncope	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Wolff-Parkinson-White pattern	Uncertain significance	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
ACTN3 DEFICIENCY	ACTN3 DEFICIENCY	BEFREE	11440986		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	33947203	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	25173926, 27344599, 31680489		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30701273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	34802252, 35893073, 36078153	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	34011823, 35656879	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	20022194, 27287556, 28082330, 33947203, 34802252, 36078153, 36166435	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	14567970, 30630173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	20022194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1AA	Cardiomyopathy	UNIPROT_DG	14567970, 20022194, 25173926, 25224718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1AA	Cardiomyopathy	GENOMICS_ENGLAND_DG	26312134, 27287556		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1AA	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1AA	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29355681		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	25173926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Stenosis	Carotid artery stenosis	Pubtator	29436628	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	34802252	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	27344599		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	21940522, 24810274, 39543892	Associate	★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	34170073	Associate	★☆☆☆☆ Found in Text Mining only
Endocardial Fibroelastosis	Endocardial Fibroelastosis	BEFREE	14567970		★☆☆☆☆ Found in Text Mining only
Endocardial Fibroelastosis	Endocardial Fibroelastosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	14567970, 25224718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart disease	Pubtator	25224718, 37834023	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32111823, 37834023, 40296161	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17097056, 20022194, 25173926, 31680489		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	20022194		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	20022194, 31680489		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	36078153	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19833877	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	11699871		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	30701273		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	34170073	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15806164		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	27023225		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	35656879	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	BEFREE	25224718		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	25224718	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	16982933		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	27344599		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32155325, 33737696, 37340028, 37371537, 38310463	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	30630173		★☆☆☆☆ Found in Text Mining only