MYH2 (myosin heavy chain 2)

Gene

• Entrez ID: 4620
• Gene name: Myosin heavy chain 2
• Gene symbol: MYH2
• Synonyms (NCBI Gene): CMYO6, CMYP6, IBM3, MYH2A, MYHSA2, MYHas8, MYPOP, MyHC-2A, MyHC-IIa
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006908	hsa-miR-23a-3p	Luciferase reporter assay, qRT-PCR, Western blot	22771720
MIRT048977	hsa-miR-92a-3p	CLASH	23622248
MIRT048977	hsa-miR-92a-3p	CLASH	23622248
MIRT544869	hsa-miR-4773	PAR-CLIP	20371350
MIRT544868	hsa-miR-576-3p	PAR-CLIP	20371350
MIRT544867	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT544866	hsa-miR-6750-5p	PAR-CLIP	20371350
MIRT544865	hsa-miR-6822-5p	PAR-CLIP	20371350
MIRT544864	hsa-miR-9500	PAR-CLIP	20371350
MIRT544863	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT544862	hsa-miR-3179	PAR-CLIP	20371350
MIRT544861	hsa-miR-3166	PAR-CLIP	20371350
MIRT544860	hsa-miR-4771	PAR-CLIP	20371350
MIRT544859	hsa-miR-3202	PAR-CLIP	20371350
MIRT544857	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT544858	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT544856	hsa-miR-3175	PAR-CLIP	20371350
MIRT544855	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT544854	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT544853	hsa-miR-1258	PAR-CLIP	20371350
MIRT544852	hsa-miR-3162-5p	PAR-CLIP	20371350
MIRT544851	hsa-miR-1273h-3p	PAR-CLIP	20371350
MIRT544869	hsa-miR-4773	PAR-CLIP	21572407
MIRT544868	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT544867	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT544866	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT544865	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT544864	hsa-miR-9500	PAR-CLIP	21572407
MIRT544863	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT544862	hsa-miR-3179	PAR-CLIP	21572407
MIRT544861	hsa-miR-3166	PAR-CLIP	21572407
MIRT544860	hsa-miR-4771	PAR-CLIP	21572407
MIRT544859	hsa-miR-3202	PAR-CLIP	21572407
MIRT544857	hsa-miR-4747-5p	PAR-CLIP	21572407
MIRT544858	hsa-miR-5196-5p	PAR-CLIP	21572407
MIRT544856	hsa-miR-3175	PAR-CLIP	21572407
MIRT544855	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT544854	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT544853	hsa-miR-1258	PAR-CLIP	21572407
MIRT544852	hsa-miR-3162-5p	PAR-CLIP	21572407
MIRT544851	hsa-miR-1273h-3p	PAR-CLIP	21572407
MIRT544869	hsa-miR-4773	PAR-CLIP	20371350
MIRT544868	hsa-miR-576-3p	PAR-CLIP	20371350
MIRT544867	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT544866	hsa-miR-6750-5p	PAR-CLIP	20371350
MIRT544865	hsa-miR-6822-5p	PAR-CLIP	20371350
MIRT544864	hsa-miR-9500	PAR-CLIP	20371350
MIRT544863	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT544862	hsa-miR-3179	PAR-CLIP	20371350
MIRT544861	hsa-miR-3166	PAR-CLIP	20371350
MIRT544860	hsa-miR-4771	PAR-CLIP	20371350
MIRT544859	hsa-miR-3202	PAR-CLIP	20371350
MIRT544857	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT544858	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT544856	hsa-miR-3175	PAR-CLIP	20371350
MIRT544855	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT544854	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT544853	hsa-miR-1258	PAR-CLIP	20371350
MIRT544852	hsa-miR-3162-5p	PAR-CLIP	20371350
MIRT544851	hsa-miR-1273h-3p	PAR-CLIP	20371350
MIRT544869	hsa-miR-4773	PAR-CLIP	21572407
MIRT544868	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT544867	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT544866	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT544865	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT544864	hsa-miR-9500	PAR-CLIP	21572407
MIRT544863	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT544862	hsa-miR-3179	PAR-CLIP	21572407
MIRT544861	hsa-miR-3166	PAR-CLIP	21572407
MIRT544860	hsa-miR-4771	PAR-CLIP	21572407
MIRT544859	hsa-miR-3202	PAR-CLIP	21572407
MIRT544857	hsa-miR-4747-5p	PAR-CLIP	21572407
MIRT544858	hsa-miR-5196-5p	PAR-CLIP	21572407
MIRT544856	hsa-miR-3175	PAR-CLIP	21572407
MIRT544855	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT544854	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT544853	hsa-miR-1258	PAR-CLIP	21572407
MIRT544852	hsa-miR-3162-5p	PAR-CLIP	21572407
MIRT544851	hsa-miR-1273h-3p	PAR-CLIP	21572407

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	TAS	10388558
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	17823310
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	NAS	3904738
GO:0005859	Component	Muscle myosin complex	TAS	10388558
GO:0005911	Component	Cell-cell junction	IMP	25753039
GO:0006936	Process	Muscle contraction	IBA
GO:0006936	Process	Muscle contraction	IDA	8145163
GO:0006936	Process	Muscle contraction	TAS	10388558
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0016460	Component	Myosin II complex	IEA
GO:0030016	Component	Myofibril	IDA	8145163
GO:0030016	Component	Myofibril	IEA
GO:0030017	Component	Sarcomere	NAS	3904738
GO:0030049	Process	Muscle filament sliding	NAS	3904738
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IEA
GO:0032991	Component	Protein-containing complex	IDA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0099512	Component	Supramolecular fiber	IEA

Other IDs

• MIM: 160740
• HGNC: 7572
• e!Ensembl: ENSG00000125414

Protein

• UniProt ID: Q9UKX2
• Protein name: Myosin-2 (Myosin heavy chain 2) (Myosin heavy chain 2a) (MyHC-2a) (Myosin heavy chain IIa) (MyHC-IIa) (Myosin heavy chain, skeletal muscle, adult 2)
• Protein function: Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02736	Myosin_N	35 → 74	Myosin N-terminal SH3-like domain	Domain
  PF00063	Myosin_head	88 → 772	Myosin head (motor domain)	Domain
  PF01576	Myosin_tail_1	849 → 1930	Myosin tail	Coiled-coil

• Sequence:

  MSSDSELAVFGEAAPFLRKSERERIEAQNRPFDAKTSVFVAEPKESFVKGTIQSREGGKV
  TVKTEGGATLTVKDDQVFPMNPPKYDKIEDMAMMTHLHEPAVLYNLKERYAAWMIYTYSG
  LFCVTVNPYKWLPVYKPEVVTAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGE
  SGAGKTVNTKRVIQYFATIAVTGEKKKEEITSGKIQGTLEDQIISANPLLEAFGNAKTVR
  NDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVVFQLKAERSYHIFYQITSNKKPEL
  IEMLLITTNPYDYPFVSQGEISVASIDDQEELMATDSAIDILGFTNEEKVSIYKLTGAVM
  HYGNLKFKQKQREEQAEPDGTEVADKAAYLQSLNSADLLKALCYPRVKVGNEYVTKGQTV
  EQVSNAVGALAKAVYEKMFLWMVARINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLC
  INFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEE
  CMFPKATDTSFKNKLYDQHLGKSANFQKPKVVKGKAEAHFALIHYAGVVDYNITGWLEKN
  KDPLNETVVGLYQKSAMKTLAQLFSGAQTAEGEGAGGGAKKGGKKKGSSFQTVSALFREN
  LNKLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRIL
  YADFKQRYKVLNASAIPEGQFIDSKKASEKLLASIDIDHTQYKFGHTKVFFKAGLLGLLE
  EMRDDKLAQLITRTQARCRGFLARVEYQRMVERREAIFCIQYNIRSFMNVKHWPWMKLFF
  KIKPLLKSAETEKEMATMKEEFQKIKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQAE
  AEGLADAEERCDQLIKTKIQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDI
  DDLELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLTKEKKALQEAHQQTLDDLQAEE
  DKVNTLTKAKIKLEQQVDDLEGSLEQEKKLRMDLERAKRKLEGDLKLAQESIMDIENEKQ
  QLDEKLKKKEFEISNLQSKIEDEQALGIQLQKKIKELQARIEELEEEIEAERASRAKAEK
  QRSDLSRELEEISERLEEAGGATSAQIEMNKKREAEFQKMRRDLEEATLQHEATAATLRK
  KHADSVAELGEQIDNLQRVKQKLEKEKSEMKMEIDDLASNVETVSKAKGNLEKMCRTLED
  QLSELKSKEEEQQRLINDLTAQRGRLQTESGEFSRQLDEKEALVSQLSRGKQAFTQQIEE
  LKRQLEEEIKAKNALAHALQSSRHDCDLLREQYEEEQESKAELQRALSKANTEVAQWRTK
  YETDAIQRTEELEEAKKKLAQRLQAAEEHVEAVNAKCASLEKTKQRLQNEVEDLMLDVER
  TNAACAALDKKQRNFDKILAEWKQKCEETHAELEASQKEARSLGTELFKIKNAYEESLDQ
  LETLKRENKNLQQEISDLTEQIAEGGKRIHELEKIKKQVEQEKCELQAALEEAEASLEHE
  EGKILRIQLELNQVKSEVDRKIAEKDEEIDQLKRNHIRIVESMQSTLDAEIRSRNDAIRL
  KKKMEGDLNEMEIQLNHANRMAAEALRNYRNTQGILKDTQIHLDDALRSQEDLKEQLAMV
  ERRANLLQAEIEELRATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLETDI
  SQMQGEMEDILQEARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTVKDLQ
  LRLDEAEQLALKGGKKQIQKLEARVRELEGEVESEQKRNAEAVKGLRKHERRVKELTYQT
  EEDRKNILRLQDLVDKLQAKVKSYKRQAEEAEEQSNTNLAKFRKLQHELEEAEERADIAE
  SQVNKLRVKSREVHTKVISEE

• Sequence length: 1941

Pathways

KEGG:

Motor proteins
Cytoskeleton in muscle cells

Reactome:

Regulation of actin dynamics for phagocytic cup formation
FCGR3A-mediated phagocytosis

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
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Likely pathogenic	rs781504304	RCV001195539	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Likely pathogenic; Pathogenic	rs904850136	RCV002466824	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYH2-related disorder	Pathogenic; Likely pathogenic	rs2508409130, rs929311433, rs1400481053	RCV004550571 RCV004547865 RCV003336184	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, proximal, and ophthalmoplegia	Likely pathogenic; Pathogenic	rs567336764, rs201790813, rs2142293598, rs2142303605, rs2142309612, rs2142289928, rs1226690028, rs2142293525, rs2142299866, rs2142297044, rs2142305562, rs2073330917, rs1250462450, rs2142290339, rs769712128, rs2142319855, rs2142305450, rs754104695, rs772613828, rs1027921042, rs2142318412, rs2508430018, rs786201023, rs879255253, rs762121316, rs746770617, rs758395765, rs879255254, rs147708782, rs904850136, rs1435997919, rs2073335561, rs2508440925, rs763913836, rs756571003, rs973700825, rs797045096, rs2508414007, rs2508417068, rs1234832404, rs2073357260, rs1280851724, rs779103482, rs2508409130, rs2508437853, rs2508449104, rs121434589, rs2508469124, rs762784420, rs1372709572, rs1268310821, rs2508413490, rs2508428819, rs1313498386, rs2508431431, rs2508417397, rs2508442009, rs780124402, rs1057518398, rs201082272, rs758264018, rs770945288, rs929311433, rs1349048266, rs1567730339, rs763860580, rs545623839, rs1400481053, rs1187271694, rs1597448170, rs1567726515, rs2073501817, rs781504304, rs2073494828, rs2073340697	RCV001330753 RCV001377134 RCV001380185 RCV001385652 RCV001563619 RCV001733833 RCV001784688 RCV001998574 RCV001906229 RCV001882016 RCV001971478 RCV001921403 RCV002002348 RCV001978587 RCV002035416 RCV002016047 RCV001893891 RCV002009412 RCV001879328 RCV001953696 RCV002010003 RCV002287227 RCV000162317 RCV000162318 RCV000162319 RCV000162320 RCV000162321 RCV000162322 RCV000162323 RCV002569353 RCV003071663 RCV003080507 RCV003090460 RCV003100669 RCV003118810 RCV002775745 RCV000190605 RCV002862370 RCV002866978 RCV002790015 RCV003144093 RCV003148181 RCV003314506 RCV003514636 RCV003405057 RCV003515330 RCV000015199 RCV003630109 RCV003630210 RCV003630376 RCV003630575 RCV003630695 RCV003630891 RCV003629735 RCV003845946 RCV003874038 RCV003875323 RCV000405820 RCV005869410 RCV001377614 RCV000545497 RCV000702039 RCV000699454 RCV000699353 RCV000696387 RCV000701025 RCV000706098 RCV000766225 RCV000787958 RCV000806758 RCV000804765 RCV001051710 RCV001048670 RCV001238200 RCV001218727 RCV001233149	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL MYOPATHY 6 WITH OPHTHALMOPLEGIA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inclusion Body Myopathy, Dominant	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYH2-related myopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS, INCLUSION BODY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult type dermatomyositis	Dermatomyositis	BEFREE	21125283		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	28993503		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	25529940		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	28821556		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16651425, 26136073		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22272636	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	15897189, 21680742		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	15897189		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	21882064	Associate	★☆☆☆☆ Found in Text Mining only
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Myopathy With External Ophthalmoplegia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic Kidney Diseases	Kidney Disease	BEFREE	19726116		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	18812466, 20110421		★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	20357587	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	17030185		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32351322	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	20357587		★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	BEFREE	17434305, 19181095, 25149037		★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	23489661, 27177998, 28729039		★☆☆☆☆ Found in Text Mining only
Continuous Muscle Fiber Activity Hereditary	Hereditary continuous muscle fiber activity	Pubtator	22349865	Associate	★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	20357587	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	22906643		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	22906643	Inhibit	★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	Pubtator	30519981	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	23489661	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	21125283		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28993503		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	25529940	Associate	★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	29934118	Associate	★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	BEFREE	17434305, 19181095, 23489661, 24193343, 25149037, 27177998		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	30560247		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	30560247		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	30560247		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31235578		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31235578		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18495866		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22219380, 28166231		★☆☆☆☆ Found in Text Mining only
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hodgkin Disease	Hodgkin disease	Pubtator	33885377	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	17429076		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	9062359, 9889823		★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT	Inclusion body myopathy	UNIPROT_DG	11114175		★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT	Inclusion body myopathy	CLINVAR_DG	20418530, 22349865, 23388406, 24193343		★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT	Inclusion body myopathy	GENOMICS_ENGLAND_DG	24193343		★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT	Inclusion body myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	11889243		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28478097, 28993503		★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	11752022, 25395423		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16651425, 26136073		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28821556, 29807023, 30712866, 30871808		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20860798, 30712866		★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	33926564	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	11114175, 11889243, 14991352, 15741996, 17005402, 17434305, 19181095, 20418530, 22918376, 23489661, 24193343, 25529940, 27177998, 29934118, 30662633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy Myosin Storage	Myosin storage myopathy	Pubtator	23489661, 24193343, 36380287	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	22349865	Associate	★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	23489661, 25529940, 33926564	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32986378	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16790446, 21399659, 29549125, 30712866		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	28059605		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	3130306		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	23489661		★☆☆☆☆ Found in Text Mining only
Oculopharyngodistal Myopathy	Oculopharyngodistal myopathy	Pubtator	25529940	Associate	★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	23489661, 24193343, 25529940, 29934118, 32578970, 33926564	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	25810256	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 2A	Osteogenesis imperfecta	Pubtator	24193343	Associate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	28821556		★☆☆☆☆ Found in Text Mining only
Polyarthralgia	Polyarthralgia	BEFREE	21125283		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	21125283		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	21402784		★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	11590545, 11752022, 12217806, 26226608		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	23499291, 26226608		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37340028, 37679666	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31011146		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	21125283		★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	39372444	Associate	★☆☆☆☆ Found in Text Mining only