TPM2 (tropomyosin 2)

Gene

• Entrez ID: 7169
• Gene name: Tropomyosin 2
• Gene symbol: TPM2
• Synonyms (NCBI Gene): AMCD1, CMYO23, CMYP23, DA1, DA2B, DA2B4, HEL-S-273, NEM4, TMSB
• Chromosome: 9
• Chromosome location: 9p13.3
• Summary: This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35401252	G>-,GG,GGG,GGGG	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign, benign, uncertain-significance	Intron variant
rs104894127	G>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs104894128	T>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs104894129	C>T	Pathogenic	Coding sequence variant, missense variant
rs113612402	A>C,G,T	Pathogenic	Splice donor variant
rs137853305	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853306	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs137853307	G>C	Pathogenic, not-provided	Coding sequence variant, missense variant, 3 prime UTR variant, intron variant
rs199476146	CTT>-	Pathogenic	Coding sequence variant, inframe deletion
rs199476147	TCT>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion
rs199476153	CTC>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion
rs201987709	G>A,C	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs727504180	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs775399371	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854363	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796239	TC>-	Likely-pathogenic	Intron variant
rs1281970248	A>C,T	Likely-pathogenic	Stop gained, coding sequence variant
rs1554658995	TCA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1554659545	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554659746	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1563929383	T>C	Pathogenic	Coding sequence variant, missense variant
rs1563929454	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1587956195	->CCTGGGCCTCCA	Pathogenic	3 prime UTR variant, intron variant, coding sequence variant, inframe insertion
rs1587959107	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001326	hsa-miR-1-3p	pSILAC	18668040
MIRT001326	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT001326	hsa-miR-1-3p	Proteomics	18668040
MIRT454973	hsa-miR-4731-3p	PAR-CLIP	23592263
MIRT454972	hsa-miR-4801	PAR-CLIP	23592263
MIRT454971	hsa-miR-3154	PAR-CLIP	23592263
MIRT454970	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT454969	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT454968	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT454967	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT454966	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT454965	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT454964	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT454963	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT454962	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT454961	hsa-miR-7515	PAR-CLIP	23592263
MIRT454960	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT454959	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT454958	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT454957	hsa-miR-4419a	PAR-CLIP	23592263
MIRT454956	hsa-miR-4510	PAR-CLIP	23592263
MIRT454955	hsa-miR-6127	PAR-CLIP	23592263
MIRT454954	hsa-miR-6129	PAR-CLIP	23592263
MIRT454953	hsa-miR-6130	PAR-CLIP	23592263
MIRT454952	hsa-miR-6133	PAR-CLIP	23592263
MIRT454951	hsa-miR-3665	PAR-CLIP	23592263
MIRT454950	hsa-miR-4434	PAR-CLIP	23592263
MIRT454948	hsa-miR-4516	PAR-CLIP	23592263
MIRT454949	hsa-miR-5703	PAR-CLIP	23592263
MIRT454947	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT454946	hsa-miR-4710	PAR-CLIP	23592263
MIRT454945	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT454973	hsa-miR-4731-3p	PAR-CLIP	23592263
MIRT454972	hsa-miR-4801	PAR-CLIP	23592263
MIRT454971	hsa-miR-3154	PAR-CLIP	23592263
MIRT454970	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT454969	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT454968	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT454967	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT454966	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT454965	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT454964	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT454963	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT454962	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT454961	hsa-miR-7515	PAR-CLIP	23592263
MIRT454960	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT454959	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT454958	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT454957	hsa-miR-4419a	PAR-CLIP	23592263
MIRT454956	hsa-miR-4510	PAR-CLIP	23592263
MIRT454955	hsa-miR-6127	PAR-CLIP	23592263
MIRT454954	hsa-miR-6129	PAR-CLIP	23592263
MIRT454953	hsa-miR-6130	PAR-CLIP	23592263
MIRT454952	hsa-miR-6133	PAR-CLIP	23592263
MIRT454951	hsa-miR-3665	PAR-CLIP	23592263
MIRT454950	hsa-miR-4434	PAR-CLIP	23592263
MIRT454948	hsa-miR-4516	PAR-CLIP	23592263
MIRT454949	hsa-miR-5703	PAR-CLIP	23592263
MIRT454947	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT454946	hsa-miR-4710	PAR-CLIP	23592263
MIRT454945	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT1449474	hsa-miR-182	CLIP-seq
MIRT1449475	hsa-miR-1976	CLIP-seq
MIRT1449476	hsa-miR-19a	CLIP-seq
MIRT1449477	hsa-miR-19b	CLIP-seq
MIRT1449478	hsa-miR-3173-3p	CLIP-seq
MIRT1449479	hsa-miR-3179	CLIP-seq
MIRT1449480	hsa-miR-3190	CLIP-seq
MIRT1449481	hsa-miR-3202	CLIP-seq
MIRT1449482	hsa-miR-409-3p	CLIP-seq
MIRT1449483	hsa-miR-4268	CLIP-seq
MIRT1449484	hsa-miR-4448	CLIP-seq
MIRT1449485	hsa-miR-4533	CLIP-seq
MIRT1449486	hsa-miR-4722-3p	CLIP-seq
MIRT1449487	hsa-miR-4763-5p	CLIP-seq
MIRT1449488	hsa-miR-4779	CLIP-seq
MIRT1449489	hsa-miR-4781-3p	CLIP-seq
MIRT1449490	hsa-miR-544	CLIP-seq
MIRT1449491	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IDA	17194691
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	30021884, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005862	Component	Muscle thin filament tropomyosin	IEA
GO:0005862	Component	Muscle thin filament tropomyosin	TAS	7606936
GO:0005884	Component	Actin filament	IBA
GO:0006936	Process	Muscle contraction	IBA
GO:0007015	Process	Actin filament organization	IBA
GO:0008307	Function	Structural constituent of muscle	TAS	7606936
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042802	Function	Identical protein binding	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043462	Process	Regulation of ATP-dependent activity	IDA	17194691
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS

Other IDs

• MIM: 190990
• HGNC: 12011
• e!Ensembl: ENSG00000198467

Protein

• UniProt ID: P07951
• Protein name: Tropomyosin beta chain (Beta-tropomyosin) (Tropomyosin-2)
• Protein function: Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by int
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00261	Tropomyosin	48 → 284	Tropomyosin	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Present in primary breast cancer tissue, absent from normal breast tissue. {ECO:0000269|Ref.10}.
• Sequence:

  MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKY
  SESVKEAQEKLEQAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAA
  DESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLVILEGELERSE
  ERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAE
  FAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL

• Sequence length: 284

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
Arthrogryposis	Pathogenic	rs137853305	RCV004798725	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis, distal, type 1A	Likely pathogenic; Pathogenic	rs2131853219, rs2131851980, rs199476146, rs2131852702, rs745549628, rs2490700207, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs201987709, rs1554658995, rs1554659746, rs1563929039, rs1563929143, rs1465836003, rs1587956195, rs1281970248, rs1825151618, rs137853307, rs1824676022	RCV001379218 RCV001969124 RCV000795370 RCV002246783 RCV002835009 RCV003514606 RCV000013276 RCV000531827 RCV001775067 RCV001206319 RCV000532873 RCV001379219 RCV001201905 RCV000544441 RCV002298710 RCV000690257 RCV000700134 RCV002535642 RCV001007833 RCV001007834 RCV001052327 RCV001209276 RCV001254895	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arthrogryposis, distal, type 2B4	Pathogenic	rs137853305, rs1563929383, rs113612402	RCV000013279 RCV000778065 RCV000778066	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy 23	Likely pathogenic; Pathogenic	rs2131843731, rs199476146, rs104894129, rs137853306, rs199476153, rs199476147, rs137853307, rs1563929454, rs1824676022	RCV001730076 RCV000223947 RCV000013278 RCV000013280 RCV000500415 RCV003231100 RCV003231101 RCV000754748 RCV001254895	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal arthrogryposis type 2B1	Likely pathogenic	rs1587959107	RCV000853383	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nemaline myopathy	Likely pathogenic	rs199476145	RCV004587611	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TPM2-related cap myopathy	Likely pathogenic; Pathogenic	rs1563929039	RCV002051885	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TPM2-related disorder	Pathogenic; Likely pathogenic	rs137853305, rs199476153, rs2490670454	RCV004532331 RCV004528107 RCV004531702	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TPM2-related myopathy	Likely pathogenic; Pathogenic	rs1824676022	RCV003389253	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Arthrogryposis multiplex congenita	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARTHROGRYPOSIS, DISTAL, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAP MYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAP MYOPATHY, TPM2-RELATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD-ONSET NEMALINE MYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBER TYPE DISPROPORTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy with fiber type disproportion	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGITOTALAR DYSMORPHISM	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHIES, NEMALINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEMALINE MYOPATHY 4	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline Myopathy, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHELDON-HALL SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPICAL NEMALINE MYOPATHY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	22797469	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31487691		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	15704180, 22980765, 27726070		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis	Arthrogryposis multiplex congenita	LHGDN	17339586		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	23413262		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis	Arthrogryposis	Pubtator	27726070	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	CLINVAR_DG	11738357, 22084935, 23378224, 23413262, 23689010, 23886664, 24657080, 24692096, 26307083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	UNIPROT_DG	12592607, 17339586, 23678273, 24692096, 30285720		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	GENOMICS_ENGLAND_DG	12592607, 17339586, 23413262, 24692096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	BEFREE	19142688, 23850728, 9012416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	ORPHANET_DG	23401156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	GENOMICS_ENGLAND_DG	17339586, 23413262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	BEFREE	19142688, 21402185, 21722758, 23678273, 29625835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	ORPHANET_DG	23401156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	31487691		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Myotubular Myopathy	Centronuclear Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31020952		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27108600, 29414807		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27108600	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29414807	Inhibit	★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap Myopathy	BEFREE	17434307, 17846275, 17885449, 19047562, 19345583, 22084935, 22980765, 25127990, 29792862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cap Myopathy	Cap Myopathy	ORPHANET_DG	17846275		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cap myopathy	Cap Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cap Myopathy	Cap myopathy	Pubtator	27726070	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAP MYOPATHY 2	Cap Myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cap Myopathy, Tpm2-Related	Cap Myopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34850589	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31020952		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	29510160		★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Childhood-onset nemaline myopathy	Nemaline myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clubfoot	Clubfoot	Pubtator	21834041, 7977374	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	16490417		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27333992		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27333992		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27333992, 30786729, 31159706, 33096021, 39342165	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	BEFREE	31746383		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	19142688, 27020427		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	ORPHANET_DG	22832343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	BEFREE	24507666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital fiber-type disproportion myopathy	Congenital myopathy with fiber type disproportion	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	17846275, 18420702, 19047562, 22749895, 22980765, 24507666, 24692096, 25978979, 27726070		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	GENOMICS_ENGLAND_DG	23413262		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Structural Myopathy	Congenital Structural Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	21834041, 24692096	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	36060667	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Digitotalar Dysmorphism	Digitotalar Dysmorphism	ORPHANET_DG	23401156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	BEFREE	16802141, 17103435, 17194691, 17339586, 17434307, 19142688, 20457903, 22749895, 23378224, 23401156, 23413262, 27381093, 29097206, 29625835, 30285720, 31746383		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	GENOMICS_ENGLAND_DG	23413262		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis type 1	Distal arthrogryposis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis type 2B	Distal arthrogryposis	Pubtator	19142688, 23678273, 30285720	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	27726070		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	17131471		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	17131471		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21517111	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	BEFREE	19142688, 21402185, 23850728, 9012416		★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12467750		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12467750		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29414807	Stimulate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16490417		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36518627	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	38347676	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29414807	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27108600, 29414807		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	17131471		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20336778		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31020952		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29414807		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27333992		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple pterygium syndrome	Multiple Pterygium Syndrome	BEFREE	19155175		★☆☆☆☆ Found in Text Mining only
Multiple pterygium syndrome	Multiple Pterygium Syndrome	GENOMICS_ENGLAND_DG	23413262		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	BEFREE	19155175		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	30289745		★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	27726070, 33397769, 38219297	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	11738357, 12467750, 17157023, 17434307, 17846275, 17885449, 19047562, 19155175, 22358459, 22749895, 22980765, 23378224, 23413262, 23689010, 27105866, 27726070, 29792862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathies, Nemaline	Myopathy	LHGDN	17846275		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathies, Nemaline	Myopathy	GENOMICS_ENGLAND_DG	23413262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	11359941, 22749895, 23413262, 24039757, 26708479, 29183317, 31526942		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOSIN STORAGE (disorder)	Myosin storage myopathy	BEFREE	17885449		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	22798622, 24692096, 27726070	Associate	★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	38013282	Associate	★☆☆☆☆ Found in Text Mining only
Nemaline myopathy 4	Nemaline myopathy	UNIPROT_DG	11738357, 17434307, 17846275, 19047562, 19345583, 24692096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline myopathy 4	Nemaline myopathy	GENOMICS_ENGLAND_DG	23413262, 24692096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline myopathy 4	Nemaline myopathy	CLINVAR_DG	27854218		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline myopathy 4	Nemaline myopathy	BEFREE	31526942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline myopathy 4	Nemaline myopathy	Pubtator	31526942	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline myopathy 4	Nemaline myopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline Myopathy, Childhood Onset	Nemaline myopathy	ORPHANET_DG	23378224, 23413262		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22965424, 27333992, 29414807		★☆☆☆☆ Found in Text Mining only
Neuromuscular dysphagia	Neuromuscular dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	9888997		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	15604267		★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	27046189	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29510160, 30304871		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20336778		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30019485		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	17434307		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sheldon-Hall syndrome	Sheldon-Hall Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinus Tachycardia	Sinus Tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	27381093		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17131471		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	21517111		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37876534	Associate	★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trismus	Trismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Typical nemaline myopathy	Nemaline myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ureteral Obstruction	Urethral obstruction	Pubtator	38013282	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21483740, 21672358, 31020952, 35734544	Associate	★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	BEFREE	19142688		★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Zebra body myopathy	Zebra Body Myopathy	BEFREE	17885449		★☆☆☆☆ Found in Text Mining only