MYH3 (myosin heavy chain 3)

Gene

• Entrez ID: 4621
• Gene name: Myosin heavy chain 3
• Gene symbol: MYH3
• Synonyms (NCBI Gene): CPSFS1A, CPSFS1B, CPSKF1A, CPSKF1B, DA2A, DA2B, DA2B3, DA8, HEMHC, MYHC-EMB, MYHSE1, SMHCE
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3216884	AA>-,A,AAA,AAAA	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs79952473	T>A,C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs121913617	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121913618	G>A	Pathogenic	Coding sequence variant, missense variant
rs121913619	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121913620	A>T	Pathogenic	Coding sequence variant, missense variant
rs121913623	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs139480342	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs372079063	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs557849165	C>T	Pathogenic	Splice donor variant
rs771300756	AAATT>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs796051884	T>G	Pathogenic	Missense variant, coding sequence variant
rs797045727	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs878853126	->ATT	Pathogenic	Inframe insertion, coding sequence variant
rs879255230	GAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs886042111	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518008	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793203	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794980	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796483	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1350968647	C>T	Pathogenic	Splice donor variant
rs1555524879	ACTCACCACGGGAAACAGCACGGTCTGCCTGCCGCAGTCAGCACCTATCTCACTTACAGCCTCCTCCGCCTGCCTCTTGTAGGACTTGACTTTCACTTGCAGTTTATCCACCAGA>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1555525264	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555525941	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555527166	GAG>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs1567552713	C>T	Pathogenic	Splice donor variant
rs1567556169	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567557697	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567558314	CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT>-	Pathogenic	Intron variant
rs1567559027	T>C	Pathogenic	Coding sequence variant, missense variant
rs1567559562	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567560080	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567564042	A>C	Pathogenic	Stop gained, coding sequence variant
rs1597482824	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1597488038	T>G	Pathogenic	Missense variant, coding sequence variant
rs1597490381	G>A	Likely-pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IMP	16642020
GO:0000146	Function	Microfilament motor activity	NAS	1691980
GO:0000166	Function	Nucleotide binding	IEA
GO:0003009	Process	Skeletal muscle contraction	IMP	16642020
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	NAS	16642020
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	16642020
GO:0006936	Process	Muscle contraction	IBA
GO:0007517	Process	Muscle organ development	TAS	2771643
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0016887	Function	ATP hydrolysis activity	IMP	16642020
GO:0017018	Function	Myosin phosphatase activity	TAS
GO:0030016	Component	Myofibril	IEA
GO:0030017	Component	Sarcomere	NAS	16642020
GO:0030048	Process	Actin filament-based movement	NAS	1691980
GO:0030049	Process	Muscle filament sliding	TAS
GO:0030326	Process	Embryonic limb morphogenesis	IC	16642020
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IEA
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0045214	Process	Sarcomere organization	NAS	16642020
GO:0046034	Process	ATP metabolic process	IMP	16642020
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	IMP	16642020
GO:0060325	Process	Face morphogenesis	IC	16642020
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 160720
• HGNC: 7573
• e!Ensembl: ENSG00000109063

Protein

• UniProt ID: P11055
• Protein name: Myosin-3 (Muscle embryonic myosin heavy chain) (Myosin heavy chain 3) (Myosin heavy chain, fast skeletal muscle, embryonic) (SMHCE)
• Protein function: 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 → 767	Myosin head (motor domain)	Domain
  PF01576	Myosin_tail_1	844 → 1925	Myosin tail	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal bone, thymus, placenta, heart, brain, and liver. {ECO:0000269|PubMed:25957469}.
• Sequence:

  MSSDTEMEVFGIAAPFLRKSEKERIEAQNQPFDAKTYCFVVDSKEEYAKGKIKSSQDGKV
  TVETEDNRTLVVKPEDVYAMNPPKFDRIEDMAMLTHLNEPAVLYNLKDRYTSWMIYTYSG
  LFCVTVNPYKWLPVYNPEVVEGYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGE
  SGAGKTVNTKRVIQYFATIAATGDLAKKKDSKMKGTLEDQIISANPLLEAFGNAKTVRND
  NSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQILSNKKPELIE
  LLLITTNPYDYPFISQGEILVASIDDAEELLATDSAIDILGFTPEEKSGLYKLTGAVMHY
  GNMKFKQKQREEQAEPDGTEVADKTAYLMGLNSSDLLKALCFPRVKVGNEYVTKGQTVDQ
  VHHAVNALSKSVYEKLFLWMVTRINQQLDTKLPRQHFIGVLDIAGFEIFEYNSLEQLCIN
  FTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECM
  FPKATDTSFKNKLYDQHLGKSNNFQKPKVVKGRAEAHFSLIHYAGTVDYSVSGWLEKNKD
  PLNETVVGLYQKSSNRLLAHLYATFATADADSGKKKVAKKKGSSFQTVSALFRENLNKLM
  SNLRTTHPHFVRCIIPNETKTPGAMEHSLVLHQLRCNGVLEGIRICRKGFPNRILYGDFK
  QRYRVLNASAIPEGQFIDSKKACEKLLASIDIDHTQYKFGHTKVFFKAGLLGTLEEMRDD
  RLAKLITRTQAVCRGFLMRVEFQKMVQRRESIFCIQYNIRSFMNVKHWPWMKLFFKIKPL
  LKSAETEKEMATMKEEFQKTKDELAKSEAKRKELEEKLVTLVQEKNDLQLQVQAESENLL
  DAEERCDQLIKAKFQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLEL
  TLAKVEKEKHATENKVKNLTEELSGLDETIAKLTREKKALQEAHQQALDDLQAEEDKVNS
  LNKTKSKLEQQVEDLESSLEQEKKLRVDLERNKRKLEGDLKLAQESILDLENDKQQLDER
  LKKKDFEYCQLQSKVEDEQTLGLQFQKKIKELQARIEELEEEIEAERATRAKTEKQRSDY
  ARELEELSERLEEAGGVTSTQIELNKKREAEFLKLRRDLEEATLQHEAMVAALRKKHADS
  VAELGEQIDNLQRVKQKLEKEKSEFKLEIDDLSSSMESVSKSKANLEKICRTLEDQLSEA
  RGKNEEIQRSLSELTTQKSRLQTEAGELSRQLEEKESIVSQLSRSKQAFTQQTEELKRQL
  EEENKAKNALAHALQSSRHDCDLLREQYEEEQEGKAELQRALSKANSEVAQWRTKYETDA
  IQRTEELEEAKKKLAQRLQDSEEQVEAVNAKCASLEKTKQRLQGEVEDLMVDVERANSLA
  AALDKKQRNFDKVLAEWKTKCEESQAELEASLKESRSLSTELFKLKNAYEEALDQLETVK
  RENKNLEQEIADLTEQIAENGKTIHELEKSRKQIELEKADIQLALEEAEAALEHEEAKIL
  RIQLELTQVKSEIDRKIAEKDEEIEQLKRNYQRTVETMQSALDAEVRSRNEAIRLKKKME
  GDLNEIEIQLSHANRQAAETLKHLRSVQGQLKDTQLHLDDALRGQEDLKEQLAIVERRAN
  LLQAEVEELRATLEQTERARKLAEQELLDSNERVQLLHTQNTSLIHTKKKLETDLMQLQS
  EVEDASRDARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRLDE
  AEQLALKGGKKQIQKLETRIRELEFELEGEQKKNTESVKGLRKYERRVKELTYQSEEDRK
  NVLRLQDLVDKLQVKVKSYKRQAEEADEQANAHLTKFRKAQHELEEAEERADIAESQVNK
  LRAKTRDFTSSRMVVHESEE

• Sequence length: 1940

Pathways

KEGG:

Motor proteins
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
Arthrogryposis, distal, type 2B3	Likely pathogenic; Pathogenic	rs2142404938, rs2508635033, rs121913617, rs121913619, rs879255230, rs1350968647, rs1567559027, rs1597488038, rs1597490381, rs1597482824	RCV001801254 RCV003319957 RCV004795413 RCV000778060 RCV000015205 RCV001199085 RCV000778061 RCV004796332 RCV000855700 RCV001027991	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	Pathogenic; Likely pathogenic	rs763239874, rs1597483539, rs796051884, rs1555527166, rs878853126, rs2508635033, rs121913617, rs1567552713, rs1350968647, rs1567558314, rs1567564042, rs557849165, rs1567559562, rs1567560080, rs1597488038	RCV003988877 RCV002287638 RCV000185627 RCV000185628 RCV000224820 RCV003319957 RCV004795413 RCV000714982 RCV000714983 RCV000714986 RCV000714984 RCV000714988 RCV000785644 RCV000785646 RCV004796332	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Contractures, pterygia, and variable skeletal fusions syndrome 1B	Pathogenic; Likely pathogenic	rs2142400070, rs2142401800, rs2142402072, rs1597483539, rs121913617, rs1567552713, rs1567564042, rs557849165, rs1597488038	RCV001533166 RCV001728089 RCV001728090 RCV003314724 RCV004795413 RCV000785648 RCV000785649 RCV000785651 RCV004796332	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal arthrogryposis	Likely pathogenic	rs2142413600, rs2074256645	RCV002226959 RCV001289472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Freeman-Sheldon syndrome	Likely pathogenic; Pathogenic	rs1175557352, rs797045727, rs2508596395, rs2508635033, rs2508605867, rs121913617, rs121913618, rs121913619, rs121913620, rs1597488038	RCV004783995 RCV000193979 RCV003219199 RCV003319957 RCV003327318 RCV000015200 RCV000015201 RCV000015202 RCV000015204 RCV000855702	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYH3-related disorder	Likely pathogenic; Pathogenic	rs2142381440, rs2142388822, rs2142390113, rs2142395080, rs2142398204, rs2142407941, rs150951216, rs2142413627, rs1175557352, rs766768674, rs2508601282, rs2508613715, rs1483000577, rs121913619, rs2508578544, rs1277847755, rs557849165	RCV001375883 RCV001375879 RCV001375882 RCV001375877 RCV001375878 RCV001375876 RCV001375881 RCV001375875 RCV002509712 RCV002307790 RCV004733562 RCV004529756 RCV004534421 RCV001849265 RCV004723390 RCV003988206 RCV002509523	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylocarpotarsal fusion syndrome 1A	Pathogenic	rs1597488212	RCV001375855	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylocarpotarsal synostosis syndrome	Likely pathogenic; Pathogenic	rs1555527166, rs2508577759, rs1567552713, rs1350968647, rs1567558314, rs1567564042, rs557849165, rs1567556169, rs1567557697	RCV000755065 RCV003994707 RCV000714982 RCV000714983 RCV000714986 RCV000714984 RCV000714988 RCV000755066 RCV000755064	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARTHROGRYPOSIS, DISTAL, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis, distal, type 1A	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2A	—	HPO	★★☆☆☆ 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
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGITOTALAR DYSMORPHISM	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis type 2B1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyolysis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHELDON-HALL SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	16642020, 25683120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis multiplex congenita	LHGDN	16642020, 18695058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis	Pubtator	32767732	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	BEFREE	19142688, 21531865, 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 2B	Sheldon-Hall syndrome	BEFREE	16642020, 19142688, 21402185, 21531865, 23678273, 29314551, 29625835, 30826400, 31746383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	ORPHANET_DG	16642020, 23401156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	GENOMICS_ENGLAND_DG	26578207, 29805041		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant multiple pterygium syndrome	Multiple Pterygium Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Autosomal recessive multiple pterygium syndrome	Multiple Pterygium Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Basilar invagination	Basilar invagination	BEFREE	30228365		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	20673635		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	20357587, 21834041	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37524774	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	38275606	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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	BEFREE	18695058, 25740846		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital retrognathism	Congenital Retrognathism	BEFREE	20673635		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	20357587, 21834041, 32767732, 38275606	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
Digitotalar Dysmorphism	Digitotalar Dysmorphism	ORPHANET_DG	23401156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	BEFREE	16497570, 16642020, 16802141, 17339586, 18695058, 19142688, 21531865, 23401156, 25256237, 25740846, 25957469, 27381093, 29625835, 30285720, 31746383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis type 1	Distal arthrogryposis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis type 2B	Distal arthrogryposis	Pubtator	19142688, 21531865, 25957469	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture-shoulder	Shoulder flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	BEFREE	16642020, 19142688, 20924721, 21402185, 21531865, 23819870, 23850728, 25256237, 25683120, 25740846, 26996280, 29314551, 9012416		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	ORPHANET_DG	16642020		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	UNIPROT_DG	16642020, 18695058		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	CLINVAR_DG	16642020, 18695058, 30826400		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	GENOMICS_ENGLAND_DG	26578207, 29805041		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	39684472	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	32315303	Associate	★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Klippel-Feil Syndrome	Klippel Feil syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple pterygium syndrome	Multiple Pterygium Syndrome	BEFREE	25957469		★☆☆☆☆ Found in Text Mining only
Multiple pterygium syndrome	Multiple Pterygium Syndrome	ORPHANET_DG	29805041		★☆☆☆☆ Found in Text Mining only
Multiple Pterygium Syndrome, Autosomal Dominant	Multiple pterygium syndrome	BEFREE	25957469		★☆☆☆☆ Found in Text Mining only
Multiple Pterygium Syndrome, Autosomal Dominant	Multiple pterygium syndrome	UNIPROT_DG	25957469, 27381093, 29314551		★☆☆☆☆ Found in Text Mining only
Multiple Pterygium Syndrome, Autosomal Dominant	Multiple pterygium syndrome	CLINVAR_DG	25957469, 27381093, 29314551		★☆☆☆☆ Found in Text Mining only
Multiple Pterygium Syndrome, Autosomal Dominant	Multiple pterygium syndrome	ORPHANET_DG	25957469		★☆☆☆☆ Found in Text Mining only
Multiple Pterygium Syndrome, Autosomal Dominant	Multiple pterygium syndrome	GENOMICS_ENGLAND_DG	26578207		★☆☆☆☆ Found in Text Mining only
Multiple Pterygium Syndrome, Autosomal Dominant	Multiple pterygium syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	18695058, 26544689		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	26578207	Associate	★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pterygium, Antecubital	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	17981253		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30111857	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	34440395, 38275606	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scott Syndrome	Scott Syndrome	BEFREE	29805041		★☆☆☆☆ Found in Text Mining only
Sheldon-Hall syndrome	Sheldon-Hall Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylocarpotarsal synostosis	Spondylocarpotarsal Synostosis Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	27381093, 28145000, 28205584, 29314551, 29805041, 30228365		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	ORPHANET_DG	27381093		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ 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
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only