MYOD1 (myogenic differentiation 1)

Gene

• Entrez ID: 4654
• Gene name: Myogenic differentiation 1
• Gene symbol: MYOD1
• Synonyms (NCBI Gene): CMYO17, CMYP17, MYF3, MYOD, MYODRIF, PUM, bHLHc1
• Chromosome: 11
• Chromosome location: 11p15.1
• Summary: This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiati

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1179926739	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003570	hsa-miR-1-3p	Review	19815577
MIRT019143	hsa-miR-335-5p	Microarray	18185580
MIRT043226	hsa-miR-324-5p	CLASH	23622248
MIRT1170234	hsa-miR-1275	CLIP-seq
MIRT1170235	hsa-miR-29a	CLIP-seq
MIRT1170236	hsa-miR-29b	CLIP-seq
MIRT1170237	hsa-miR-29c	CLIP-seq
MIRT1170238	hsa-miR-3147	CLIP-seq
MIRT1170239	hsa-miR-3178	CLIP-seq
MIRT1170240	hsa-miR-320a	CLIP-seq
MIRT1170241	hsa-miR-320b	CLIP-seq
MIRT1170242	hsa-miR-320c	CLIP-seq
MIRT1170243	hsa-miR-320d	CLIP-seq
MIRT1170244	hsa-miR-329	CLIP-seq
MIRT1170245	hsa-miR-362-3p	CLIP-seq
MIRT1170246	hsa-miR-3689a-3p	CLIP-seq
MIRT1170247	hsa-miR-3689c	CLIP-seq
MIRT1170248	hsa-miR-3919	CLIP-seq
MIRT1170249	hsa-miR-4425	CLIP-seq
MIRT1170250	hsa-miR-4429	CLIP-seq
MIRT1170251	hsa-miR-4525	CLIP-seq
MIRT1170252	hsa-miR-4634	CLIP-seq
MIRT1170253	hsa-miR-4665-5p	CLIP-seq
MIRT1170254	hsa-miR-4723-5p	CLIP-seq
MIRT1170255	hsa-miR-4728-5p	CLIP-seq
MIRT1170256	hsa-miR-4756-3p	CLIP-seq
MIRT1170257	hsa-miR-625	CLIP-seq
MIRT1170255	hsa-miR-4728-5p	CLIP-seq
MIRT2454735	hsa-miR-3180	CLIP-seq
MIRT2454736	hsa-miR-3180-3p	CLIP-seq
MIRT2454737	hsa-miR-4258	CLIP-seq
MIRT2454738	hsa-miR-4277	CLIP-seq
MIRT2454739	hsa-miR-4713-5p	CLIP-seq
MIRT2454735	hsa-miR-3180	CLIP-seq
MIRT2454736	hsa-miR-3180-3p	CLIP-seq
MIRT2454737	hsa-miR-4258	CLIP-seq
MIRT2454738	hsa-miR-4277	CLIP-seq
MIRT2454739	hsa-miR-4713-5p	CLIP-seq
MIRT2454735	hsa-miR-3180	CLIP-seq
MIRT2454736	hsa-miR-3180-3p	CLIP-seq
MIRT2454737	hsa-miR-4258	CLIP-seq
MIRT2454738	hsa-miR-4277	CLIP-seq
MIRT2454739	hsa-miR-4713-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	ISS
GO:0000791	Component	Euchromatin	IEA
GO:0000791	Component	Euchromatin	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	11076940
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	TAS	1846704
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001216	Function	DNA-binding transcription activator activity	IEA
GO:0001216	Function	DNA-binding transcription activator activity	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	11076940
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	10915743, 12887892, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	3175662
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	1846704
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006468	Process	Protein phosphorylation	TAS	3175662
GO:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	TAS	1846704
GO:0007518	Process	Myoblast fate determination	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007519	Process	Skeletal muscle tissue development	TAS	3175662
GO:0007520	Process	Myoblast fusion	IEA
GO:0009267	Process	Cellular response to starvation	IEA
GO:0009888	Process	Tissue development	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0014902	Process	Myotube differentiation	IEA
GO:0014904	Process	Myotube cell development	IDA	10672515
GO:0014908	Process	Myotube differentiation involved in skeletal muscle regeneration	IEA
GO:0016922	Function	Nuclear receptor binding	IPI	9862959
GO:0019899	Function	Enzyme binding	IEA
GO:0030016	Component	Myofibril	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IBA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0042692	Process	Muscle cell differentiation	IEA
GO:0042693	Process	Muscle cell fate commitment	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0043415	Process	Positive regulation of skeletal muscle tissue regeneration	IEA
GO:0043425	Function	BHLH transcription factor binding	IEA
GO:0043484	Process	Regulation of RNA splicing	IDA	10672515
GO:0043503	Process	Skeletal muscle fiber adaptation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045445	Process	Myoblast differentiation	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11076940
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	IBA
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0051149	Process	Positive regulation of muscle cell differentiation	IDA	10672515
GO:0051149	Process	Positive regulation of muscle cell differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0070888	Function	E-box binding	IEA
GO:0070888	Function	E-box binding	ISS
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071385	Process	Cellular response to glucocorticoid stimulus	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	ISS
GO:0071453	Process	Cellular response to oxygen levels	IEA
GO:1901741	Process	Positive regulation of myoblast fusion	IDA	10672515
GO:1905382	Process	Positive regulation of snRNA transcription by RNA polymerase II	IEA
GO:1905382	Process	Positive regulation of snRNA transcription by RNA polymerase II	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:1990841	Function	Promoter-specific chromatin binding	ISS
GO:2000818	Process	Negative regulation of myoblast proliferation	IEA

Other IDs

• MIM: 159970
• HGNC: 7611
• e!Ensembl: ENSG00000129152

Protein

• UniProt ID: P15172
• Protein name: Myoblast determination protein 1 (Class C basic helix-loop-helix protein 1) (bHLHc1) (Myogenic factor 3) (Myf-3)
• Protein function: Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Ind
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01586	Basic	27 → 109	Myogenic Basic domain	Family
  PF00010	HLH	110 → 161	Helix-loop-helix DNA-binding domain	Domain
  PF12232	Myf5	191 → 259	Myogenic determination factor 5	Family

• Sequence:

  MELLSPPLRDVDLTAPDGSLCSFATTDDFYDDPCFDSPDLRFFEDLDPRLMHVGALLKPE
  EHSHFPAAVHPAPGAREDEHVRAPSGHHQAGRCLLWACKACKRKTTNADRRKAATMRERR
  RLSKVNEAFETLKRCTSSNPNQRLPKVEILRNAIRYIEGLQALLRDQDAAPPGAAAAFYA
  PGPLPPGRGGEHYSGDSDASSPRSNCSDGMMDYSGPPSGARRRNCYEGAYYNEAPSEPRP
  GKSAAVSSLDCLSSIVERISTESPAAPALLLADVPSESPPRRQEAAAPSEGESSGDPTQS
  PDAAPQCPAGANPNPIYQVL

• Sequence length: 320

Pathways

KEGG:

Spinocerebellar ataxia

Reactome:

Myogenesis

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 multiplex congenita	Pathogenic	rs1179926739	RCV000855714	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant centronuclear myopathy	Pathogenic	rs1179926739	RCV000855714	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies	Pathogenic	rs1179926739, rs147517396, rs768652299	RCV001253807 RCV001253805 RCV001253806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL MYOPATHY 17	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FETAL AKINESIA DEFORMATION SEQUENCE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FETAL AKINESIA DEFORMATION SEQUENCE 1	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOD1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOSARCOMA, EMBRYONAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	11717336, 9066689		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25573098		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	21631298		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	9066689		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	9066689		★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	29844345, 9546368		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	10838498, 1656801		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27195289		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	27195289	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	15367334	Associate	★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	2176177, 2276740		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18628976, 21868547, 28842253, 3168399, 8712752		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18628976	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10096240, 8712752, 9020485, 9066689		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	24824843, 26501226, 27562493, 30181563, 32859634, 35452896, 37315267	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	18628976	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25573098		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27562493	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33896245	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29165587		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	20966410	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	14760078		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	14760078, 26344356		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21830274	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10096240, 14767572, 15526363, 9066689		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	14767572		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CTD_human_DG	21258934		★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Bochdalek	Posterolateral diaphragmatic hernia	CTD_human_DG	21258934		★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Morgagni	Morgagni diaphragmatic hernia	CTD_human_DG	21258934		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	30992050	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	7495304	Associate	★☆☆☆☆ Found in Text Mining only
Diaphyseal medullary stenosis with malignant fibrous histiocytoma	Diaphyseal bone disorder	Pubtator	12401825	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	24793135, 25002625, 25087979, 27562493, 29291204, 29375950, 9546368		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	CTD_human_DG	24793135		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22430803	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	Pubtator	34044792	Associate	★☆☆☆☆ Found in Text Mining only
Fetal akinesia deformation sequence	Fetal Akinesia Deformation Sequence	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	22430803, 27688110	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobin SC Disease	Hemoglobin sc disease	Pubtator	34782706	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23404842	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	28884746	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30026272, 9156651		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11313277	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	11368360		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	11368360, 9156651		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	11368360, 12530095, 15301431		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	9413169		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18628976, 21868547, 28842253, 3168399		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25573098		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	9020485		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31831855		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11368360, 14767572, 19750229, 29165587, 29978464, 30197756, 31696361		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	14760078		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	3168399		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	21148633	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15526363	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	9413169		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	17303423		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	18334989, 21266958, 24396035, 30846748, 32359374, 33610829, 38282008, 8361505	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	17013991, 23561550	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	30846748		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	30696470	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	27286495	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	9593768		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	17077152	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	23058947	Inhibit	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	27286495, 36631509, 36767649	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11272905, 11921280, 14767572, 1764365, 19733896, 2315312, 2458884, 24793135, 2601695, 26501226, 30829729, 3600778, 9466584		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	15526363		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	7495304	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	38178234	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23404842	Associate	★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	ORPHANET_DG	26733463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	31343408		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20053773	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	17573449, 24666540, 34831227	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19717478	Inhibit	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	16403804		★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	BEFREE	30287926		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	11272905, 11921280, 12218574, 1313401, 16365729, 2315312, 23717650, 24089019, 24272621, 24793135, 24824843, 2601695, 27562493, 27688110, 28080960, 30098515, 30181563, 30287926, 30604891, 31696361, 9466584, 9546368		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	16435141, 17378682		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	17468105, 1764365, 19299559, 20701800, 2260621, 23230269, 24824843, 27286495, 27562493, 30181563, 30975722, 32859634, 33627785, 33913590, 34285060, 34782706, 37315267, 38178234, 40076757, 7495304, 9466584, 9546368	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	18487991, 21321994, 23733015, 23999248, 34782706	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	11272905, 19299559, 20701800, 23733015, 27562493, 27764816, 34782706, 9546368	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	26314219, 31107719		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	8160771	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	2260621	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	32815649	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	23761422		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31831855		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	23761422		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	23761422	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	11325821, 21830274		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29806603	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	2260621	Associate	★☆☆☆☆ Found in Text Mining only