DES (desmin)

Gene

• Entrez ID: 1674
• Gene name: Desmin
• Gene symbol: DES
• Synonyms (NCBI Gene): CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R
• Chromosome: 2
• Chromosome location: 2q35
• Summary: This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41272699	C>T	Benign-likely-benign, pathogenic, likely-benign, benign, uncertain-significance	Coding sequence variant, missense variant
rs57496341	T>C,G	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs57639980	T>C	Pathogenic	Coding sequence variant, missense variant
rs57955682	T>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs57965306	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs58409037	AGGCCAGTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs58687088	ACA>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion
rs58898021	G>C	Pathogenic	Coding sequence variant, missense variant
rs59308628	T>C	Pathogenic	Coding sequence variant, missense variant
rs59962885	G>A,C,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs60538473	CGCGCGTCGACGTCGAGCGCG>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion
rs60794845	C>A,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs60798368	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs61130669	G>T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs61368398	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs61726467	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs62635763	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs62636490	G>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant, stop gained
rs62636491	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs62636492	C>G,T	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs62636495	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs112224037	G>A	Likely-pathogenic	Splice donor variant
rs121913000	G>C	Pathogenic	Coding sequence variant, missense variant
rs121913001	A>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs121913002	C>A,G,T	Uncertain-significance, benign, pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs121913003	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121913004	A>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs121913005	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs140375681	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs144901249	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs147327878	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs148947510	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs150974575	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs199972656	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201458068	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs267607482	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs267607483	A>G,T	Pathogenic, uncertain-significance	Intron variant
rs267607485	A>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs267607486	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs267607490	C>T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs267607495	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs267607499	A>G,T	Likely-pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs370239228	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs397516691	A>C,G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs397516694	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516695	T>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516698	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant
rs398122940	A>G	Pathogenic	Splice acceptor variant
rs546741834	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs578191306	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, synonymous variant, coding sequence variant
rs727504448	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs730880289	AG>-	Pathogenic	Intron variant
rs748323823	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Splice donor variant
rs759320891	C>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs763599850	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs776786349	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs781590560	C>T	Pathogenic	Coding sequence variant, stop gained
rs794728986	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728991	A>C	Likely-pathogenic	Stop lost, terminator codon variant
rs794728992	C>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794728994	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728996	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs876657769	->C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs886041454	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886043000	A>T	Pathogenic	Stop gained, coding sequence variant
rs886043080	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886044078	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886044329	T>C	Likely-pathogenic, uncertain-significance	Stop lost, terminator codon variant
rs1057523274	A>G	Likely-pathogenic	Missense variant, initiator codon variant
rs1060503165	C>T	Pathogenic	Coding sequence variant, stop gained
rs1064794869	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167327	ACGG>-	Pathogenic	Coding sequence variant, stop gained
rs1114167332	CAGGTGGAGGTGCTCACTAACCAGCGCG>GCGT	Pathogenic	Inframe indel, coding sequence variant
rs1399282762	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1400593451	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1411703397	A>C,T	Pathogenic	Missense variant, coding sequence variant
rs1553603239	GCAGGAGCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1553603566	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553603732	CCCATCCAGACCTACTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559352440	C>T	Pathogenic	Coding sequence variant, stop gained
rs1575014889	AGGACAACATTGCGCGCC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1575014943	AAGGATGAGATGGCCCGCCATC>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT933266	hsa-miR-3127-5p	CLIP-seq
MIRT933267	hsa-miR-3938	CLIP-seq
MIRT933268	hsa-miR-3943	CLIP-seq
MIRT933269	hsa-miR-4270	CLIP-seq
MIRT933270	hsa-miR-4323	CLIP-seq
MIRT933271	hsa-miR-4441	CLIP-seq
MIRT933272	hsa-miR-4450	CLIP-seq
MIRT933273	hsa-miR-4519	CLIP-seq
MIRT933274	hsa-miR-542-5p	CLIP-seq
MIRT933275	hsa-miR-642a	CLIP-seq
MIRT933276	hsa-miR-643	CLIP-seq
MIRT2211686	hsa-miR-103a	CLIP-seq
MIRT2211687	hsa-miR-107	CLIP-seq
MIRT2211688	hsa-miR-1184	CLIP-seq
MIRT2211689	hsa-miR-1225-3p	CLIP-seq
MIRT2211690	hsa-miR-1268	CLIP-seq
MIRT2211691	hsa-miR-1268b	CLIP-seq
MIRT2211692	hsa-miR-1909	CLIP-seq
MIRT2211693	hsa-miR-214	CLIP-seq
MIRT2211694	hsa-miR-3150a-3p	CLIP-seq
MIRT2211695	hsa-miR-3175	CLIP-seq
MIRT2211696	hsa-miR-3178	CLIP-seq
MIRT2211697	hsa-miR-3619-5p	CLIP-seq
MIRT2211698	hsa-miR-3925-3p	CLIP-seq
MIRT2211699	hsa-miR-4492	CLIP-seq
MIRT2211700	hsa-miR-4498	CLIP-seq
MIRT2211701	hsa-miR-4505	CLIP-seq
MIRT2211702	hsa-miR-4667-5p	CLIP-seq
MIRT2211703	hsa-miR-4700-5p	CLIP-seq
MIRT2211704	hsa-miR-4728-5p	CLIP-seq
MIRT2211705	hsa-miR-4731-5p	CLIP-seq
MIRT2211706	hsa-miR-4768-5p	CLIP-seq
MIRT2211707	hsa-miR-520a-5p	CLIP-seq
MIRT2211708	hsa-miR-525-5p	CLIP-seq
MIRT2211709	hsa-miR-541	CLIP-seq
MIRT2211710	hsa-miR-654-5p	CLIP-seq
MIRT2211711	hsa-miR-761	CLIP-seq
MIRT2211712	hsa-miR-762	CLIP-seq
MIRT2211713	hsa-miR-766	CLIP-seq
MIRT2211714	hsa-miR-939	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TRIM16	Repression	22009481

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	9736733
GO:0005515	Function	Protein binding	IPI	11353857, 16923132, 20706999, 21135508, 23615443, 24940650, 25416956, 26816005, 26871637, 27107012, 27733623, 28470624, 28514442, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	TAS	9736733
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IBA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005916	Component	Fascia adherens	IEA
GO:0006936	Process	Muscle contraction	TAS	9697706
GO:0006998	Process	Nuclear envelope organization	IEA
GO:0006998	Process	Nuclear envelope organization	ISS
GO:0007010	Process	Cytoskeleton organization	TAS	9736733
GO:0008016	Process	Regulation of heart contraction	TAS	9697706
GO:0008092	Function	Cytoskeletal protein binding	IPI	11309420
GO:0014704	Component	Intercalated disc	IDA	24200904, 26724190
GO:0016020	Component	Membrane	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	9415431, 24200904, 26724190
GO:0030018	Component	Z disc	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IDA	25394388
GO:0042383	Component	Sarcolemma	IEA
GO:0042802	Function	Identical protein binding	IPI	21135508, 32296183
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045109	Process	Intermediate filament organization	IMP	24200904, 26724190
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045111	Component	Intermediate filament cytoskeleton	IEA
GO:0051286	Component	Cell tip	IEA
GO:0051286	Component	Cell tip	ISS
GO:0060538	Process	Skeletal muscle organ development	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0097512	Component	Cardiac myofibril	IDA	25771144
GO:0099512	Component	Supramolecular fiber	IEA

Other IDs

• MIM: 125660
• HGNC: 2770
• e!Ensembl: ENSG00000175084

Protein

• UniProt ID: P17661
• Protein name: Desmin
• Protein function: Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04732	Filament_head	9 → 106	Intermediate filament head (DNA binding) region	Family
  PF00038	Filament	107 → 415	Intermediate filament protein	Coiled-coil

• Sequence:

  MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTS
  GGAGGLGSLRASRLGTTRTPSSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFA
  NYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVER
  DNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
  KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKV
  SDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEA
  SGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPI
  QTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL

• Sequence length: 470

Pathways

KEGG:

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

Reactome:

Striated Muscle Contraction

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	rs398122940	RCV001814034	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic; Pathogenic	rs121913003	RCV001787806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bradycardia	Likely pathogenic	rs2125168811	RCV002259401	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Likely pathogenic; Pathogenic	rs2125168194, rs121913003, rs1368507241	RCV001799278 RCV001798009 RCV001171068	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2125168897, rs781590560, rs121913003, rs62635763, rs267607490, rs267607483, rs1954444202	RCV002343849 RCV004020211 RCV005540009 RCV005549906 RCV002381360 RCV002381361 RCV005328655	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DES-related disorder	Likely pathogenic; Pathogenic	rs2125168194, rs1954374671, rs1399282762	RCV003407812 RCV003394435 RCV004742640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Desmin-related myofibrillar myopathy	Likely pathogenic; Pathogenic	rs2125165615, rs1370206753, rs2125166200, rs2125166454, rs769096434, rs1187516594, rs2125167652, rs2125168897, rs774739275, rs1224165687, rs2125167364, rs2125165857, rs1432061016, rs949187421, rs397516698, rs730880289, rs1954372352, rs2545247381, rs781590560, rs2545255266, rs2545255549, rs1057520275, rs2545251600, rs2545247153, rs57496341, rs886043000, rs886043080, rs1954374671, rs1954365477, rs1269819085, rs2545246000, rs2125166116, rs2545253453, rs2545248405, rs2545250765, rs2545254803, rs121913000, rs60538473, rs57639980, rs121913003, rs57955682, rs121913004, rs121913005, rs57965306, rs2545264805, rs2545253097, rs1060503165, rs62635763, rs1553603566, rs1553603732, rs62636495, rs1553603239, rs1559352440, rs1411703397, rs1399282762, rs1575014943, rs61726467, rs398122940, rs267607482, rs58409037, rs59308628, rs61130669, rs57694264, rs267607485, rs267607490, rs267607499, rs267607495, rs58999456, rs267607484, rs267607483, rs267607486, rs267607494, rs1575014889, rs1954358233, rs1273708097, rs1954437523, rs959034410, rs1368507241, rs775085773, rs1954444202	RCV001377481 RCV001388769 RCV001386331 RCV001388854 RCV001381376 RCV003992771 RCV002276892 RCV002541189 RCV002266017 RCV001960550 RCV001926904 RCV002037926 RCV001975552 RCV002283933 RCV002265627 RCV002265630 RCV003084860 RCV003080888 RCV001380936 RCV002781192 RCV002953882 RCV003015700 RCV003042121 RCV003042312 RCV003036660 RCV000227930 RCV000700283 RCV000696661 RCV005228039 RCV003792422 RCV003792546 RCV003808417 RCV003794535 RCV003802665 RCV003800262 RCV003809488 RCV003881698 RCV002265558 RCV002265560 RCV001044194 RCV000627795 RCV002265562 RCV002265563 RCV000811753 RCV000651542 RCV004018194 RCV004587620 RCV001380227 RCV000817811 RCV002265824 RCV002265825 RCV001389153 RCV001220792 RCV002265839 RCV000700903 RCV000697545 RCV002265873 RCV000797371 RCV000794311 RCV000792525 RCV002265587 RCV000796175 RCV001380949 RCV002274893 RCV001043598 RCV002265588 RCV001064294 RCV000685786 RCV001854166 RCV000684771 RCV001384253 RCV001061421 RCV000794180 RCV002265589 RCV000154574 RCV002265590 RCV004776428 RCV002265918 RCV001037267 RCV001038112 RCV001039536 RCV001382898 RCV001873578 RCV001218064 RCV001245293	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1I	Likely pathogenic; Pathogenic	rs1432061016, rs781590560, rs1553603566, rs1399282762, rs267607490, rs267607486	RCV005409859 RCV002478626 RCV004002755 RCV002477819 RCV004795992 RCV002226454	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1S	Pathogenic	rs1114167332	RCV000491577	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-girdle muscular dystrophy	Likely pathogenic	rs57955682	RCV005624695	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar myopathy	Pathogenic; Likely pathogenic	rs58898021, rs267607485, rs60798368	RCV000239682 RCV000239724 RCV000239680	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurogenic scapuloperoneal syndrome, Kaeser type	Likely pathogenic; Pathogenic	rs1432061016, rs781590560, rs57965306, rs1553603566, rs1399282762, rs267607490, rs267607499	RCV005409859 RCV002478626 RCV000018329 RCV004002755 RCV002477819 RCV004795992 RCV004767051	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuromuscular disease	Likely pathogenic; Pathogenic	rs267607490, rs267607495	RCV000844627 RCV000154600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs62636495, rs267607490, rs267607495, rs267607483	RCV000037240 RCV000498999 RCV000154600 RCV000154574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs58999456	RCV004799771	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs267607490	RCV000155027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive familial heart block	Likely pathogenic	rs2125168811	RCV002259401	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular dysplasia 9	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR BLOCK	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1I	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, 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	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ 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
GLOMERULONEPHRITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERHOMOCYSTEINEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOFIBRILLAR MYOPATHY 1	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar Myopathy, Dominant	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTRICTIVE CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scapuloperoneal weakness	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	25307863		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	7529297		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander Disease	BEFREE	11138011, 15495269, 16507904, 17043438, 20110364, 22488673, 28135564, 28700643		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	28009610		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	16155124		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18205747, 18287500, 24907400		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	23158209, 28157488, 30173272		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	27121971, 31609036, 34289528, 36555543, 38522388, 40604581	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	16698823, 22395865, 23168288, 29212896, 31702781, 32397162, 33831308	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	20423733, 20829228, 22403400, 23168288, 25691752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	BEFREE	8863160		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	29152145		★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	BEFREE	28455287		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	20137276		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	34289528	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	BEFREE	10905661, 14991347, 16376610, 16890305, 23036309, 29274115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	Pubtator	16376610, 29274115	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	BEFREE	17329105		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	35740900	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18092184		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	1382837, 8205522		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Bright Disease	Bright Disease	CTD_human_DG	20962747		★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bundle Branch Block	Bundle branch block	Pubtator	37931536	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	Pubtator	24133607	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	24612689, 28225793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	15105807		★☆☆☆☆ Found in Text Mining only
Cardiac Conduction System Disease	Cardiac conduction disease	Pubtator	22153487, 31609036, 32142595, 38522388	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG	10545598		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10591032, 10717012, 11298680, 11668632, 12837281, 14576194, 15078418, 1517757, 15572040, 16155124, 16316967, 17105773, 18539904, 19005210, 19433360, 20133133, 20423733, 21083940, 21135508, 21841311, 22040875, 22386993, 22403400, 22484823, 23770744, 25358400, 25394388, 25541946, 26342832, 27301468, 28341603, 28365402, 28469177, 28470624, 28523323, 28629836, 29034897, 29212896, 29274115, 29556622, 30342008, 30773991, 31341183, 7919971, 9330890		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	10717012, 18691923, 19433360, 21083940, 21842594, 22292457, 25541946, 28470624, 28523323, 29274115, 36555543, 37446359, 37931536, 38167524, 38522388, 40604581, 8004844	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	10974018, 21842594, 22292457, 23168288, 23815709, 26458567, 29556622, 34011823, 34289528, 36555543	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	21083940, 28427417, 32150461	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	16376610, 21842594, 28523323, 31718026, 35456383, 35614389, 40604581, 8004844	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	10430757, 10580070, 11052860, 11728149, 16698823, 16890305, 17325244, 18539904, 21768101, 21841311, 23300193, 23815709, 31431066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	10717012, 11073539, 12620971, 14724127, 17720647, 18061454, 19587455, 19716701, 19763525, 19879535, 20696008, 22153487, 22275259, 22484823, 23155419, 23815709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	17325244, 17626518, 17924085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1I	Cardiomyopathy	UNIPROT_DG	10430757, 24200904, 26724190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1I	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257, 29212896		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1I	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1I	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10430757, 10974018, 16890305, 17325244, 17924085, 21768101, 23300193, 28171858, 29154888, 30097466, 31431066		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	16376610, 16890305, 18006163, 24315344		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	22153487	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	22153487, 36221331	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30096250		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	18092184		★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	21135508, 30601711, 8006374		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	7529297		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	23158209		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16959042, 18691435		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18691435		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19460759, 24642707		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16959042, 18691435	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19460759	Stimulate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	23036309		★☆☆☆☆ Found in Text Mining only
Concentric hypertrophic cardiomyopathy	Concentric hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	29212896	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CTD_human_DG	27651373		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hernia of foramen of Bochdalek	Posterolateral diaphragmatic hernia	CTD_human_DG	27651373		★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Morgagni	Morgagni diaphragmatic hernia	CTD_human_DG	27651373		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	12351999, 17303423, 7561954, 7565929		★☆☆☆☆ Found in Text Mining only
Congenital Structural Myopathy	Congenital Structural Myopathy	BEFREE	8006374		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12609507, 17924085, 20423733, 20829228, 25541130, 28629836, 29483093, 30344511, 31794771		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15095478		★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	15556930		★☆☆☆☆ Found in Text Mining only
Coronary Artery Dissection Spontaneous	Spontaneous coronary artery dissection	Pubtator	32142595	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Fibrous Histiocytoma	Fibrous Histiocytoma	BEFREE	30893190		★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	28427476		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	29338117		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	12502925		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	26168014		★☆☆☆☆ Found in Text Mining only
Desminopathy	Desminopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	23994981	Stimulate	★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	24832162, 25755805, 31103034		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	38158126	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31288561		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24915827		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29275072		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30534570		★☆☆☆☆ Found in Text Mining only
Diaphyseal medullary stenosis with malignant fibrous histiocytoma	Diaphyseal bone disorder	Pubtator	12401825	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	10905661, 11298680, 12609507, 12766977, 14991347, 15078418, 16009553, 17635637, 17720647, 23036309, 29274115, 8004844, 9697706		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	10545598, 10686494, 11454237, 24441330, 26342832, 29437287, 7964869, 8114783, 9608560		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	11454237, 21842594, 24441330	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren Contracture	BEFREE	8822112		★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	31439488		★☆☆☆☆ Found in Text Mining only
Dysphonia	Dysphonia	Pubtator	25208129	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	10717012	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	29291204, 8183732		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35805203	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	23178314		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	38115253	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy	BEFREE	12071635, 27121971		★☆☆☆☆ Found in Text Mining only
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Pubtator	27121971	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	7525408		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	BEFREE	31630292		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	10430757		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	11781950, 11899244, 12469210		★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	33823640	Associate	★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibroid Tumor	Leiomyoma	BEFREE	17021135, 19416222, 25738828, 28203428, 29944972		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29507624, 29849890		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	32461394	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	11213830, 17090188, 20716168, 23862765, 29318761, 29592983, 30723856		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	20380900, 22798108	Associate	★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	26390092		★☆☆☆☆ Found in Text Mining only
Giant Axonal Neuropathy	Giant axonal neuropathy	Pubtator	25398950	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	12502925		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22337773, 30658136		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22337773, 30658136		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23524267		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	CTD_human_DG	20962747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	28214865, 28359068		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease due to acid maltase deficiency, late-onset	Glycogen Storage Disease	BEFREE	26390092		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	26390092		★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	12609507, 18061454		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	10717012, 11073539, 16376610, 21083940, 22153487, 23051780, 24441330, 29212896, 29274115, 31024060, 32105824, 37931536, 40523712	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	16155124, 24441330, 8114783		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12609507, 17924085, 20423733, 20829228, 25541130, 28629836, 29483093, 30344511, 31794771		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	22292457, 36555543, 37834000, 38167524	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	BEFREE	10204502		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	19424620		★☆☆☆☆ Found in Text Mining only
Histiocytoma Angiomatoid Fibrous	Angiomatoid fibrous histiocytoma	Pubtator	28009602	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytoma, Angiomatoid Fibrous	Histiocytoma	BEFREE	18300800, 20154033, 28009602, 31567275		★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	7565929		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	23715164		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	CTD_human_DG	20116427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperplasia	Hyperplasia	Pubtator	35805203	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	23640432	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	22452949	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30096250		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21083940, 26343497, 29167554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21083940, 26343497, 29167554		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	22292457	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20877435	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29348564	Inhibit	★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	15198127		★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	BEFREE	1739928		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	18400254, 29764851		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	7919971		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	29436580		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28719898		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36701711	Associate	★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	28625393, 9664117		★☆☆☆☆ Found in Text Mining only
Left Bundle-Branch Block	Left Bundle-Branch Block	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	17278201, 8723906	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	12944549, 17278201, 8723906	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	15105807, 21412072		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	BEFREE	28747229		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16959042		★☆☆☆☆ Found in Text Mining only
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3	Lymphoblastic Leukemia	BEFREE	31305268		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	1713123		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	28625393, 9664117		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoblastoma	Lipoblastoma	BEFREE	23865573		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	23865573		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Pleomorphic	liposarcoma	BEFREE	23865573		★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	23865573		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	3020094	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	21128782		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	8183732		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	19530241	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	12401825		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	19540848		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	31165505		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	26729015		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	1382837, 8205522		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27835867		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	19424620		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	2282206, 22846364, 24612689, 29059099, 29338117, 8874391		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16959042, 18691435		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Mediastinal Neoplasms	Mediastinal Neoplasms	BEFREE	29607872		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27655122, 29338117		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33078756	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	7919971		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	29405341		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	21128782, 28733877		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25575565, 27121971, 32105824, 38167524	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	27213335	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	31169683		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	10545598		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	17720647, 22275259, 22366786, 23394708, 23687351, 24170373, 24920671, 26205529, 26338452, 26362252, 28403181, 29869469, 31034989		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	CTD_human_DG	23687351, 30055862		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	14991347, 16010068, 23155419		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	12619170	Associate	★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E	Limb-Girdle Muscular Dystrophy	ORPHANET_DG	22275259		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E	Limb-Girdle Muscular Dystrophy	BEFREE	24647604		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	37721175	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	29395675		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24915827, 29566363, 30344511		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	36221331	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	21841311, 29154888		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	GENOMICS_ENGLAND_DG	10545598		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	10717012, 11073539, 16010068, 17418574, 17784878, 19433360, 21676617, 22106715, 22153487, 22395865, 23051780, 23639843, 23815709, 25208129, 25541946, 25557463, 27618136, 28523323, 28793217, 31024060, 31309175, 32105824, 32142595, 34978387, 36555543, 37240454, 37446359, 38354647, 38522388, 39973468, 40523712	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	11061256, 11310634, 12351999, 12669240, 14711882, 15111675, 15198127, 15668942, 16828798, 17188893, 17635637, 17784878, 18653338, 19433360, 19563540, 19763525, 20448486, 22153487, 22961544, 23044792, 23234811, 23639843, 23815709, 24091796, 24098483, 25541946, 26051936, 28341603, 28469177, 28523323, 29924655, 30289745, 31024060, 31371504		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar Myopathy	Myofibrillar myopathy	CTD_human_DG	20718792, 30055862		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar Myopathy	Myofibrillar myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibromatosis	Myofibromatosis	BEFREE	1739928		★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	11001821		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10334489, 10545598, 10591032, 10686494, 10717012, 10905661, 11001821, 11019786, 11061256, 11310634, 11454237, 12365725, 12410397, 12609507, 14648196, 14724127, 15495235, 15558188, 16217025, 16684602, 16890305, 17068785, 17221859, 17325244, 17418574, 17439987, 17635637, 17698502, 18061454, 19005210, 19181099, 19587455, 20171226, 20633900, 21135508, 22386993, 22403400, 23036309, 23590293, 24091796, 24170373, 25358400, 25394388, 25541946, 25557463, 26051936, 26205529, 26342832, 26362252, 27440146, 27941998, 28469177, 29167554, 29212896, 29274115, 30908796, 31341183, 3360147, 7747013, 7919971, 8509778, 8619529, 8922062, 9121497, 9330890, 9697706		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	16009553, 17720647, 18061454		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	7608737	Associate	★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	BEFREE	10545598, 10717012, 11668632, 12351999, 14648196, 14991347, 15078418, 15572040, 16217025, 16828798, 16865695, 17325244, 17418574, 17720647, 19181099, 20133133, 20423733, 20696008, 23051780, 23815709, 24098483, 25541946, 27440146, 27719747, 27941998, 30179276, 9697706, 9731540		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	CLINGEN_DG	10545598, 10717012, 11061256, 1544366, 16217025, 17221859, 19105189, 25358400, 2673923, 9697706		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	UNIPROT_DG	10545598, 10717012, 10905661, 11061256, 11668632, 12620971, 12766977, 14648196, 14711882, 14724127, 15495235, 15800015, 16009553, 16376610, 16865695, 17221859, 18061454, 19879535, 20829228, 22106715, 22395865, 23615443, 23687351, 25394388, 27733623, 28470624, 9697706, 9736733		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	CLINVAR_DG	10717012, 10905661, 11073539, 12620971, 14724127, 14991347, 15050448, 15800015, 16865695, 16890305, 17221859, 17418574, 17439987, 17720647, 18061454, 18653338, 18765652, 19181099, 19587455, 19716701, 19763525, 19879535, 20171226, 20423733, 20448486, 20696008, 20829228, 21262226, 22106715, 22153487, 22215463, 22275259, 22403400, 22484823, 23032110, 23155419, 23349452, 23425003, 23815709, 25394388, 25557463, 26633545, 26789769, 27393313, 27854218, 9736733		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	ORPHANET_DG	11668632		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	GENOMICS_ENGLAND_DG	20186049, 20718792, 27532257, 29212896		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	CTD_human_DG	20718792, 30055862		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	15146016	Associate	★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	7608737	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10835530, 11238030, 11859201, 12084347, 12152168, 12409719, 1434543, 15095478, 1530111, 15759130, 15965700, 16628090, 17021135, 17069596, 18092184, 19460759, 19540848, 20124484, 21411119, 22009637, 22899016, 23865573, 24282276, 24415532, 25267378, 26097614, 26337721, 26845637, 27688079, 28009602, 28248883, 28379958, 29097878, 29266774, 29291204, 30287265, 30720533, 31103034, 31115930, 31764512, 7656206, 8156531, 8311656, 8734420, 9505279, 9664117, 9688304, 9738572, 9824116		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	15166674, 24832162, 27184662, 30257355		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	CTD_human_DG	16418842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurilemmoma	Neurilemmoma	BEFREE	10835530		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11129446, 16720851, 2019470, 29426276, 30572519		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	29426276	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26996101		★☆☆☆☆ Found in Text Mining only
Neurogenic scapuloperoneal syndrome, Kaeser type	Neurogenic Scapuloperoneal Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuromuscular Diseases	Neuromuscular Diseases	CLINVAR_DG	10717012, 11073539, 12620971, 14724127, 19587455, 19716701, 20696008, 22153487, 23815709		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	12365725, 15078418, 7565929		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28358810		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	17068785		★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	BEFREE	30908796		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	21293300, 7529297		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12401825		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	12401825	Associate	★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	23715164		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30466735		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	20137276		★☆☆☆☆ Found in Text Mining only
Paroxysmal supraventricular tachycardia	Paroxysmal supraventricular tachycardia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	28786871		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	25575565	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	1517757		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	1517757		★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	30633211, 31851063		★☆☆☆☆ Found in Text Mining only
Peroneal muscle atrophy	Peroneal muscle atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	26847180		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27835867		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	37781794	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37781794	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18563736		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15095478, 23158209, 23715164		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29270765		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	12766977		★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	11298680, 16376610, 16890305, 18006163, 31718026, 8004844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Restrictive cardiomyopathy	LHGDN	15759133		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	37890269	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	11285617, 19898221, 22135462, 2282206, 22899016, 2323848, 3371982, 8160781, 8780893, 9505279, 9543674		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	20219075, 3311112, 7524332, 7665696, 8160781	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	18487991	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	20701800	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic heart disease	Pubtator	24738046	Associate	★☆☆☆☆ Found in Text Mining only
Right ventricular dilatation	Right ventricular dilatation	BEFREE	25691752		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	24075556		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	19898221, 21412072, 28248883, 30353686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	3311112	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Stark-Kaeser syndrome	ORPHANET_DG	17439987		★☆☆☆☆ Found in Text Mining only
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Stark-Kaeser syndrome	UNIPROT_DG	17439987, 25394388		★☆☆☆☆ Found in Text Mining only
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Stark-Kaeser syndrome	GENOMICS_ENGLAND_DG	20186049, 27532257, 29212896		★☆☆☆☆ Found in Text Mining only
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Stark-Kaeser syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Stark-Kaeser syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30658136		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Short QT Syndrome 1	Short qt syndrome	Pubtator	28427417	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	33580673	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	30764835		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	2282206		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	24806300, 31192973		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	1713123		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	9075666		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12923326	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	19424620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Thymoma	BEFREE	7778671		★☆☆☆☆ Found in Text Mining only
Transitional atrioventricular canal defect	Transitional atrioventricular canal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	21251216	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34323415, 36614304	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	17021135, 19416222, 25738828, 28203428, 29944972, 30168888		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	29338117		★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar Myopathy	BEFREE	25557463		★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar myopathy	Pubtator	25557463, 32419263	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	20573469		★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	21842594	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	23168288	Associate	★☆☆☆☆ Found in Text Mining only
Visceral Myopathy Familial	Visceral neuropathy	Pubtator	3360147	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	21293300, 7529297		★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	BEFREE	12351999, 21135508, 28237839, 7580238		★☆☆☆☆ Found in Text Mining only