TCAP (titin-cap)

Gene

• Entrez ID: 8557
• Gene name: Titin-cap
• Gene symbol: TCAP
• Synonyms (NCBI Gene): CMD1N, CMH25, LGMD2G, LGMDR7, T-cap, TELE, telethonin
• Chromosome: 17
• Chromosome location: 17q12
• Summary: Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. Thi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs45495192	C>A,G,T	Likely-pathogenic, likely-benign	Stop gained, missense variant, coding sequence variant
rs104894655	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs141019458	G>A	Pathogenic	Coding sequence variant, stop gained
rs143233087	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs146502276	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs146906267	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs372538567	G>A	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs397516861	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs397516862	GAG>-	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Inframe deletion, coding sequence variant
rs552865793	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs773317399	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs775636212	C>A,T	Pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs778568339	->AGGTGTCG	Pathogenic	Frameshift variant, coding sequence variant
rs778851652	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs779699520	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs786205076	GG>-	Pathogenic	Coding sequence variant, splice donor variant
rs794729178	G>A,C,T	Likely-pathogenic	Intron variant
rs863224933	->GAGGTGT	Likely-pathogenic	Coding sequence variant, stop gained
rs886044421	->TGTGAGC	Likely-pathogenic	Inframe indel, coding sequence variant, stop gained
rs1555606959	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555606976	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567864804	A>G	Likely-pathogenic	Initiator codon variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2124637	hsa-miR-137	CLIP-seq
MIRT2124638	hsa-miR-371-3p	CLIP-seq
MIRT2124639	hsa-miR-371b-3p	CLIP-seq
MIRT2124640	hsa-miR-4473	CLIP-seq
MIRT2124641	hsa-miR-4671-3p	CLIP-seq
MIRT2124642	hsa-miR-4715-3p	CLIP-seq
MIRT2124643	hsa-miR-4727-5p	CLIP-seq
MIRT2124644	hsa-miR-4729	CLIP-seq
MIRT2124645	hsa-miR-4769-3p	CLIP-seq
MIRT2124646	hsa-miR-515-3p	CLIP-seq
MIRT2124647	hsa-miR-519e	CLIP-seq
MIRT2124648	hsa-miR-593	CLIP-seq
MIRT2347013	hsa-miR-1283	CLIP-seq
MIRT2347014	hsa-miR-1285	CLIP-seq
MIRT2347015	hsa-miR-149	CLIP-seq
MIRT2347016	hsa-miR-3064-5p	CLIP-seq
MIRT2347017	hsa-miR-3176	CLIP-seq
MIRT2347018	hsa-miR-3187-5p	CLIP-seq
MIRT2347019	hsa-miR-326	CLIP-seq
MIRT2347020	hsa-miR-330-3p	CLIP-seq
MIRT2347021	hsa-miR-330-5p	CLIP-seq
MIRT2347022	hsa-miR-378g	CLIP-seq
MIRT2347023	hsa-miR-3922-3p	CLIP-seq
MIRT2347024	hsa-miR-3943	CLIP-seq
MIRT2347025	hsa-miR-4323	CLIP-seq
MIRT2347026	hsa-miR-4470	CLIP-seq
MIRT2347027	hsa-miR-4486	CLIP-seq
MIRT2347028	hsa-miR-4757-5p	CLIP-seq
MIRT2347029	hsa-miR-4793-5p	CLIP-seq
MIRT2347030	hsa-miR-4794	CLIP-seq
MIRT2347031	hsa-miR-520d-5p	CLIP-seq
MIRT2347032	hsa-miR-524-5p	CLIP-seq
MIRT2347033	hsa-miR-612	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001756	Process	Somitogenesis	IEA
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003009	Process	Skeletal muscle contraction	IEP	9817758
GO:0003009	Process	Skeletal muscle contraction	NAS	16407954
GO:0003300	Process	Cardiac muscle hypertrophy	IMP	15582318
GO:0005515	Function	Protein binding	IPI	10984498, 11842093, 11846417, 15582318, 16407954, 16713569, 16962094, 17921333, 19622741, 23414517, 24860983, 28514442, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007512	Process	Adult heart development	IEA
GO:0007512	Process	Adult heart development	IMP	9817758
GO:0008307	Function	Structural constituent of muscle	IBA
GO:0008307	Function	Structural constituent of muscle	IMP	9817758
GO:0008307	Function	Structural constituent of muscle	TAS	9350988
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IMP	12507422
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	9817758, 17921333
GO:0030018	Component	Z disc	IEA
GO:0030049	Process	Muscle filament sliding	NAS	16407954
GO:0030240	Process	Skeletal muscle thin filament assembly	IBA
GO:0030240	Process	Skeletal muscle thin filament assembly	IMP	9817758
GO:0030241	Process	Skeletal muscle myosin thick filament assembly	IBA
GO:0030241	Process	Skeletal muscle myosin thick filament assembly	IMP	9817758
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	15582318
GO:0030916	Process	Otic vesicle formation	IEA
GO:0031432	Function	Titin binding	IBA
GO:0031432	Function	Titin binding	IPI	9817758, 11846417, 15582318
GO:0031674	Component	I band	IEA
GO:0031674	Component	I band	ISS
GO:0035994	Process	Response to muscle stretch	TAS	17921333
GO:0035995	Process	Detection of muscle stretch	IBA
GO:0035995	Process	Detection of muscle stretch	IMP	12507422
GO:0036122	Function	BMP binding	IPI	17921333
GO:0044325	Function	Transmembrane transporter binding	IPI	11697903
GO:0045214	Process	Sarcomere organization	IMP	9817758
GO:0045214	Process	Sarcomere organization	NAS	16407954
GO:0045214	Process	Sarcomere organization	TAS	17921333
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048729	Process	Tissue morphogenesis	IEA
GO:0048769	Process	Sarcomerogenesis	IBA
GO:0048769	Process	Sarcomerogenesis	IMP	9817758
GO:0050982	Process	Detection of mechanical stimulus	TAS	17921333
GO:0051373	Function	FATZ binding	IPI	15582318
GO:0055003	Process	Cardiac myofibril assembly	IBA
GO:0055003	Process	Cardiac myofibril assembly	IMP	9817758
GO:0055003	Process	Cardiac myofibril assembly	NAS	16407954
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IBA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IMP	9817758
GO:0055013	Process	Cardiac muscle cell development	IMP	9817758
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IMP	12507422, 15582318
GO:0060048	Process	Cardiac muscle contraction	NAS	16407954
GO:0060090	Function	Molecular adaptor activity	EXP	16713295
GO:0065003	Process	Protein-containing complex assembly	TAS	9817758
GO:0070080	Function	Titin Z domain binding	IPI	11846417
GO:1990733	Component	Titin-telethonin complex	IPI	16407954

Other IDs

• MIM: 604488
• HGNC: 11610
• e!Ensembl: ENSG00000173991

Protein

• UniProt ID: O15273
• Protein name: Telethonin (Titin cap protein)
• Protein function: Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.
• PDB: 1YA5, 2F8V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09470	Telethonin	3 → 167	Telethonin protein	Domain

• Tissue specificity: TISSUE SPECIFICITY: Heart and skeletal muscle.
• Sequence:

  MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHETYHQQGQCQVL
  VQRSPWLMMRMGILGRGLQEYQLPYQRVLPLPIFTPAKMGATKEEREDTPIQLQELLALE
  TALGGQCVDRQEVAEITKQLPPVVPVSKPGALRRSLSRSMSQEAQRG

• Sequence length: 167

Pathways

KEGG:

Cytoskeleton in muscle cells

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	rs757082868, rs1555606976, rs1555606959	RCV001814501 RCV001814176 RCV001814199	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2G	Likely pathogenic; Pathogenic	rs757082868, rs45495192, rs113187448, rs794729178, rs104894655, rs786205076, rs863224933, rs141019458, rs1555606976, rs778568339, rs1555606959, rs778851652	RCV004815562 RCV000128799 RCV002251258 RCV003992214 RCV000005861 RCV000005862 RCV000196697 RCV002502153 RCV004003588 RCV004796221 RCV000625732 RCV001004970	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs104894655, rs786205076, rs141019458, rs1219700070, rs778568339	RCV005749510 RCV002426492 RCV003296748 RCV002365326 RCV004511357 RCV005749568	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elevated circulating creatine kinase concentration	Likely pathogenic; Pathogenic	rs1555606976	RCV000515732	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 25	Pathogenic; Likely pathogenic	rs794729178, rs369447207, rs1555606959, rs1435437660, rs2543739837, rs773317399, rs104894655, rs786205076, rs2543737997, rs758142728, rs2057250066, rs779699520, rs886044421, rs141019458, rs2543737772, rs778568339, rs778851652, rs2057249899	RCV001364211 RCV001377435 RCV001949690 RCV001890317 RCV002287191 RCV000170301 RCV000037790 RCV001851683 RCV002857904 RCV002929064 RCV003003326 RCV001387607 RCV001850465 RCV001231484 RCV003806869 RCV000800083 RCV001860466 RCV002549264 RCV001036520	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs104894655	RCV000211741	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Pathogenic; Likely pathogenic	rs794729178, rs369447207, rs1555606959, rs1435437660, rs104894655, rs786205076, rs2543737997, rs758142728, rs2057250066, rs779699520, rs886044421, rs141019458, rs2543737772, rs778568339, rs1567864804, rs778851652, rs2057249899	RCV001364211 RCV001377435 RCV001949690 RCV001890317 RCV001380074 RCV001851683 RCV002857904 RCV002929064 RCV003003326 RCV001387607 RCV001850465 RCV001231484 RCV003806869 RCV000800083 RCV001860466 RCV000714643 RCV002549264 RCV001036520	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1N	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TYPE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 4	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Benign; 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
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TCAP-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Alzheimer Disease	Alzheimer disease	Pubtator	24965283	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32565061	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15010812		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	15582318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	15582318, 16352453, 33595762	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	15582318, 16352453, 20201937, 24037902, 34011823, 37752589	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	15582318, 16352453, 32565061, 37752589	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	10655062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	15582318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1N	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 23479141, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1N	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25	Cardiomyopathy	UNIPROT_DG	15582318, 16352453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20201937		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	15582318, 19412328		★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	19412328	Associate	★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	31931849	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33595762	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32565061	Associate	★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	30944467		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	12507422, 15582318, 16352453, 9350988		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15582318, 16352453, 17097056, 29935994		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	15582318		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15582318, 29935994		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	25055047	Inhibit	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30410041, 30604373		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2F	Limb-girdle muscular dystrophy	BEFREE	10069710		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy, type 2E	Limb-Girdle Muscular Dystrophy	BEFREE	10069710		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	36100284	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	36100284	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15010812		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15010812		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	27589524		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	10069710, 11763198, 12379311, 19679566, 21530252, 23479141, 25055047, 30944467, 31268554		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	21683594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	BEFREE	11665864		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Limb-Girdle, Type 2G	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	20186049, 27532257		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Limb-Girdle, Type 2G	Limb-Girdle Muscular Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Limb-Girdle, Type 2G	Limb-Girdle Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	12379311	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	25055047, 28666572		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	12379311, 27618135		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	12379311	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29760609	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	36100284	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	11665864		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	36100284	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15010812		★☆☆☆☆ Found in Text Mining only
Telethonin-related limb-girdle muscular dystrophy R7	Limb-Girdle Muscular Dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only