LDB3 (LIM domain binding 3)

Gene

• Entrez ID: 11155
• Gene name: LIM domain binding 3
• Gene symbol: LDB3
• Synonyms (NCBI Gene): CMD1C, CMD2L, CMH24, CMPD3, CYPHER, LDB3Z1, LDB3Z4, LVNC3, MFM4, ORACLE, PDLIM6, ZASP
• Chromosome: 10
• Chromosome location: 10q23.2
• Summary: This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs45458895	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs45487699	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs45514002	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs77304928	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs121908333	G>A	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs121908334	C>T	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs121908335	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs121908336	C>G,T	Benign-likely-benign, pathogenic, likely-benign	Genic downstream transcript variant, intron variant, synonymous variant, missense variant, coding sequence variant
rs121908337	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs121908339	A>T	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs138251566	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant, intron variant
rs138951890	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs139922045	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs143764931	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs144445130	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, coding sequence variant, intron variant
rs145983824	C>T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs200796750	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs201968775	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs281865143	C>T	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs374613600	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs397517209	CCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC>-,CCCTGCCCCTGCCTACACCCCCTC,CCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, inframe deletion, genic downstream transcript variant, inframe insertion
rs727503126	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs727503129	C>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs747523570	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs774886148	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs775180716	C>T	Pathogenic	Coding sequence variant, missense variant
rs1131691665	G>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1106253	hsa-miR-122	CLIP-seq
MIRT1106254	hsa-miR-1292	CLIP-seq
MIRT1106255	hsa-miR-129-5p	CLIP-seq
MIRT1106256	hsa-miR-3135b	CLIP-seq
MIRT1106257	hsa-miR-3150b-3p	CLIP-seq
MIRT1106258	hsa-miR-3652	CLIP-seq
MIRT1106259	hsa-miR-3667-3p	CLIP-seq
MIRT1106260	hsa-miR-4423-5p	CLIP-seq
MIRT1106261	hsa-miR-4430	CLIP-seq
MIRT1106262	hsa-miR-450b-5p	CLIP-seq
MIRT1106263	hsa-miR-4689	CLIP-seq
MIRT1106264	hsa-miR-4784	CLIP-seq
MIRT1106265	hsa-miR-507	CLIP-seq
MIRT1106266	hsa-miR-557	CLIP-seq
MIRT1106267	hsa-miR-891a	CLIP-seq
MIRT1106268	hsa-miR-3616-3p	CLIP-seq
MIRT1106269	hsa-miR-4419a	CLIP-seq
MIRT1106270	hsa-miR-4436b-3p	CLIP-seq
MIRT1106271	hsa-miR-4510	CLIP-seq
MIRT1106272	hsa-miR-520a-5p	CLIP-seq
MIRT1106273	hsa-miR-525-5p	CLIP-seq
MIRT1106274	hsa-miR-885-3p	CLIP-seq
MIRT1106275	hsa-miR-1228	CLIP-seq
MIRT1106276	hsa-miR-4715-3p	CLIP-seq
MIRT1106277	hsa-miR-4722-3p	CLIP-seq
MIRT1106278	hsa-miR-4735-5p	CLIP-seq
MIRT1106279	hsa-miR-4763-5p	CLIP-seq
MIRT1106280	hsa-miR-4775	CLIP-seq
MIRT1106281	hsa-miR-4794	CLIP-seq
MIRT1106282	hsa-miR-566	CLIP-seq
MIRT1106283	hsa-miR-590-3p	CLIP-seq
MIRT1106255	hsa-miR-129-5p	CLIP-seq
MIRT1106262	hsa-miR-450b-5p	CLIP-seq
MIRT1106265	hsa-miR-507	CLIP-seq
MIRT1106266	hsa-miR-557	CLIP-seq
MIRT1106267	hsa-miR-891a	CLIP-seq
MIRT1106255	hsa-miR-129-5p	CLIP-seq
MIRT1106262	hsa-miR-450b-5p	CLIP-seq
MIRT1106280	hsa-miR-4775	CLIP-seq
MIRT1106265	hsa-miR-507	CLIP-seq
MIRT1106266	hsa-miR-557	CLIP-seq
MIRT1106283	hsa-miR-590-3p	CLIP-seq
MIRT1106267	hsa-miR-891a	CLIP-seq
MIRT2029400	hsa-miR-1202	CLIP-seq
MIRT2029401	hsa-miR-15a	CLIP-seq
MIRT2029402	hsa-miR-15b	CLIP-seq
MIRT2029403	hsa-miR-16	CLIP-seq
MIRT2029404	hsa-miR-195	CLIP-seq
MIRT2029405	hsa-miR-214	CLIP-seq
MIRT2029406	hsa-miR-216a	CLIP-seq
MIRT2029407	hsa-miR-216b	CLIP-seq
MIRT2029408	hsa-miR-3194-5p	CLIP-seq
MIRT2029409	hsa-miR-3619-5p	CLIP-seq
MIRT2029410	hsa-miR-3972	CLIP-seq
MIRT2029411	hsa-miR-424	CLIP-seq
MIRT1106260	hsa-miR-4423-5p	CLIP-seq
MIRT2029412	hsa-miR-4530	CLIP-seq
MIRT2029413	hsa-miR-4660	CLIP-seq
MIRT2029414	hsa-miR-4722-5p	CLIP-seq
MIRT1106279	hsa-miR-4763-5p	CLIP-seq
MIRT2029415	hsa-miR-497	CLIP-seq
MIRT2029416	hsa-miR-646	CLIP-seq
MIRT2029417	hsa-miR-761	CLIP-seq
MIRT2029400	hsa-miR-1202	CLIP-seq
MIRT2029410	hsa-miR-3972	CLIP-seq
MIRT1106275	hsa-miR-1228	CLIP-seq
MIRT1106276	hsa-miR-4715-3p	CLIP-seq
MIRT1106277	hsa-miR-4722-3p	CLIP-seq
MIRT1106278	hsa-miR-4735-5p	CLIP-seq
MIRT1106279	hsa-miR-4763-5p	CLIP-seq
MIRT1106281	hsa-miR-4794	CLIP-seq
MIRT1106282	hsa-miR-566	CLIP-seq
MIRT1106275	hsa-miR-1228	CLIP-seq
MIRT2683841	hsa-miR-2113	CLIP-seq
MIRT1106276	hsa-miR-4715-3p	CLIP-seq
MIRT1106277	hsa-miR-4722-3p	CLIP-seq
MIRT1106278	hsa-miR-4735-5p	CLIP-seq
MIRT1106279	hsa-miR-4763-5p	CLIP-seq
MIRT1106280	hsa-miR-4775	CLIP-seq
MIRT1106281	hsa-miR-4794	CLIP-seq
MIRT1106282	hsa-miR-566	CLIP-seq
MIRT1106283	hsa-miR-590-3p	CLIP-seq
MIRT2683842	hsa-miR-599	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IBA
GO:0003779	Function	Actin binding	IBA
GO:0005080	Function	Protein kinase C binding	IEA
GO:0005515	Function	Protein binding	IPI	10427098
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IDA	10427098
GO:0005856	Component	Cytoskeleton	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0007507	Process	Heart development	IBA
GO:0008092	Function	Cytoskeletal protein binding	IPI	17987659
GO:0019899	Function	Enzyme binding	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	10427098
GO:0030018	Component	Z disc	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0031143	Component	Pseudopodium	IEA
GO:0031941	Component	Filamentous actin	IBA
GO:0042995	Component	Cell projection	IEA
GO:0045214	Process	Sarcomere organization	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051371	Function	Muscle alpha-actinin binding	IBA
GO:0051371	Function	Muscle alpha-actinin binding	IEA
GO:0061061	Process	Muscle structure development	IBA

Other IDs

• MIM: 605906
• HGNC: 15710
• e!Ensembl: ENSG00000122367

Protein

• UniProt ID: O75112
• Protein name: LIM domain-binding protein 3 (Protein cypher) (Z-band alternatively spliced PDZ-motif protein)
• Protein function: May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.
• PDB: 1RGW, 4YDP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00595	PDZ	3 → 81	PDZ domain	Domain
  PF15936	DUF4749	192 → 297	Domain of unknown function (DUF4749)	Family
  PF00412	LIM	551 → 606	LIM domain	Domain
  PF00412	LIM	610 → 665	LIM domain	Domain
  PF00412	LIM	669 → 725	LIM domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta. {ECO:0000269|PubMed:10427098}.
• Sequence:

  MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTM
  THLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAP
  SPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDL
  LGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGSLPIKDLAVD
  SASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSST
  PIEHAPVCTSQATTPLLPASAQPPAAASPSAASPPLATAAAHTAIASASTTAPASSPADS
  PRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSP
  GANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGG
  PAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAE
  RFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCER
  CYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKD
  YINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKK
  HAHTINL

• Sequence length: 727

Pathways

KEGG:

Cytoskeleton in muscle cells

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
Cardiomyopathy	Likely pathogenic; Pathogenic	rs121908333, rs121908334	RCV000770149 RCV000769278	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs121908334	RCV003162208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1C	Likely pathogenic; Pathogenic	rs121908333, rs121908334, rs959113234, rs1846937833, rs1846942383	RCV003483424 RCV002247249 RCV001293337 RCV001293342 RCV001293343	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LDB3-related disorder	Likely pathogenic; Pathogenic	rs121908334	RCV003934799	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar myopathy	Likely pathogenic; Pathogenic	rs121908334	RCV000239669	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar myopathy 4	Pathogenic; Likely pathogenic	rs2132363967, rs2132482311, rs2132485699, rs2132363722, rs45581435, rs2132487443, rs121908333, rs121908334, rs2492677971, rs2492762089, rs2492808478, rs45487699, rs1308589918, rs1060501315, rs730880345, rs1554849000, rs1554849100, rs1554849133, rs1564653469, rs1846883652	RCV001367317 RCV001924262 RCV002017623 RCV001948424 RCV001948664 RCV001969481 RCV000004992 RCV000004993 RCV002867919 RCV003503538 RCV003502930 RCV003504114 RCV003504502 RCV000459772 RCV000559443 RCV000639863 RCV000639874 RCV000639870 RCV003611875 RCV001248403	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuromuscular disease	Likely pathogenic; Pathogenic	rs121908334	RCV000036847	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar ClinGen	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ 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, DILATED, 1C	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, dilated, 2l	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24	—	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
DILATED CARDIOMYOPATHY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL MUSCULAR DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hypertrophic cardiomyopathy 24	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TYPE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 14	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 2	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 4	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated Noncompaction of the Ventricular Myocardium	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR NONCOMPACTION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction 3	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar Myopathy, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	33949037	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	25041374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	Arrhythmogenic right ventricular cardiomyopathy	ORPHANET_DG	25041374		★☆☆☆☆ Found in Text Mining only
Barth Syndrome	Barth syndrome	Pubtator	17394203	Associate	★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	17729299		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	27546599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	14662268, 17394203, 20201937, 31024045, 31379146, 33949037	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	21896538, 32344918	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	14660611, 14662268, 19377068, 19603185, 26419279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	14660611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1C (disorder)	Cardiomyopathy	UNIPROT_DG	14660611, 14662268		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 1C (disorder)	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 1C (disorder)	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 1C (disorder)	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	14662268, 19377068, 31379146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	18318760		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	26636822	Associate	★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	20809097, 27546599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Myopathies	Distal myopathy	Pubtator	25911362	Associate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	14660611, 14662268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	19412328	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Heart Block	Heart Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26419279, 26636822, 31379146, 36721086	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	31379146		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	26419279	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17097056, 24730657		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Late-onset distal myopathy, Markesbery-Griggs type	Distal Myopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	22929165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	16427346		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	18318760		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	19184181, 24361111		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	20116073		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	19050726, 21676617, 23586671, 24361111		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	21676617, 22106715, 27618136, 28349680	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar Myopathy	Myofibrillar myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar Myopathy	Myofibrillar myopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar Myopathy	Myofibrillar myopathy	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	BEFREE	16927100, 19181098, 23558691		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	26636822	Associate	★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, 4	Myofibrillar myopathy	GENOMICS_ENGLAND_DG	15668942		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, 4	Myofibrillar myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopathy, Myofibrillar, Zasp-Related	Myofibrillar myopathy	ORPHANET_DG	20809097		★☆☆☆☆ Found in Text Mining only
Myopathy, Myofibrillar, Zasp-Related	Myofibrillar myopathy	BEFREE	27546599		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	22349865	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	20066428, 34371182	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	24878509		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	16927100, 31419596		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	CLINVAR_DG	15668942, 17337483, 18765652, 19377068, 24647531, 24668811, 27618136, 28349680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy	Neuropathy	BEFREE	27546599		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37960876	Associate	★☆☆☆☆ 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	35132271	Associate	★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar myopathy	Pubtator	32419263	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	26419279		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	14662268, 28821295	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	33949037	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	26419279, 27135274	Associate	★☆☆☆☆ Found in Text Mining only