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
• Disease Acronyms (UniProt): CPSFS1A, CPSFS1B, DA2A, DA2B3
• 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	IMP	16642020
GO:0000146	Function	Microfilament motor activity	NAS	1691980
GO:0003009	Process	Skeletal muscle contraction	IMP	16642020
GO:0005516	Function	Calmodulin binding	NAS	16642020
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	NAS	16642020
GO:0006470	Process	Protein dephosphorylation	IEA
GO:0007517	Process	Muscle organ development	TAS	2771643
GO:0016887	Function	ATPase activity	IMP	16642020
GO:0017018	Function	Myosin phosphatase activity	TAS
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	IEA
GO:0045214	Process	Sarcomere organization	NAS	16642020
GO:0046034	Process	ATP metabolic process	IMP	16642020
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

Causal
Disease term	Disease name	dbSNP ID	References
Aortic aneurysm	Aortic Aneurysm	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Distal arthrogryposis	ARTHROGRYPOSIS, DISTAL, TYPE 1, Distal arthrogryposis syndrome, Distal arthrogryposis type 1	rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919, rs587776920, rs587777129, rs587777130, rs587777131, rs199476146, rs606231471, rs370167241, rs765430577, rs878853117, rs878853118, rs1555621138, rs149459910, rs1553566820, rs1553567411, rs1553567937, rs1341894581, rs201987709, rs1554658995, rs1554289078, rs762979130, rs1554659746, rs1555242493, rs1555769818, rs1567973091, rs1563929039, rs1563929143, rs1350968647, rs1356994386, rs1229171141, rs1567559027, rs1563929383, rs113612402, rs1465836003, rs1597490381, rs1190799930, rs767987856, rs1587956195, rs1281970248, rs1575076514, rs1597482824, rs1825151618	23401156
Freeman-sheldon syndrome	Freeman-Sheldon syndrome	rs121913617, rs121913618, rs121913619, rs121913620, rs797045727, rs1597488038	18695058, 16642020, 26578207, 29805041, 30826400
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Klippel feil syndrome	Klippel-Feil Syndrome	rs1567750527, rs772798486, rs713993044, rs864309489, rs1569172839
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple pterygium syndrome	Multiple pterygium syndrome, Multiple Pterygium Syndrome, Autosomal Dominant, Autosomal recessive multiple pterygium syndrome, Autosomal dominant multiple pterygium syndrome	rs267606725, rs121912670, rs121912671, rs267606726, rs121912672, rs767503038, rs797044677, rs765746795, rs777219451, rs747067203, rs780249576, rs774279192, rs764266722, rs1574643342	29805041, 29314551, 27381093, 25957469, 26578207
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spondylocarpotarsal synostosis syndrome	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, Spondylocarpotarsal synostosis	rs80356521, rs80356519, rs80356520, rs121908897, rs121908898, rs80356517, rs1555527166, rs1553701033, rs1553703909, rs1567556169, rs1567557697, rs746105983, rs1575457582	27381093

Unknown
Disease term	Disease name	Evidence	References	Source
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Digitotalar Dysmorphism	digitotalar dysmorphism			GenCC
Sheldon-Hall Syndrome	Sheldon-hall syndrome			GenCC
Multiple Pterygium Syndrome	autosomal recessive multiple pterygium syndrome			GenCC
Spondylocarpotarsal Synostosis Syndrome	spondylocarpotarsal synostosis syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Arthrogryposis	Associate	32767732
Arthrogryposis multiplex congenita distal type 1	Associate	17103435, 19142688, 21531865, 21834041, 27381093, 32767732
Carotid Body Tumor	Associate	30967136
Chromosome Aberrations	Associate	25957469
Clubfoot	Associate	20357587, 21834041
Colonic Neoplasms	Associate	37524774
Congenital Abnormalities	Associate	38275606
Contracture	Associate	20357587, 21834041, 32767732, 38275606
Distal arthrogryposis type 2B	Associate	19142688, 21531865, 25957469
Facial Asymmetry	Associate	38275606
Foot Deformities	Associate	38275606
Freeman Sheldon syndrome	Associate	19142688, 21531865, 23819870, 25683120, 25740846
Fused Kidney	Associate	28205584
Haspeslagh Fryns Muelenaere syndrome	Associate	32767732
Head and Neck Neoplasms	Associate	39684472
Heart Septal Defects Atrial	Associate	32315303
Klippel Feil Syndrome	Associate	25957469
Multiple pterygium syndrome	Associate	25957469, 27381093, 34440395
Multiple Pterygium Syndrome Autosomal Dominant	Associate	28205584, 32767732
Muscular Diseases	Associate	26544689
Musculoskeletal Abnormalities	Associate	28779239
Neoplasms	Associate	37524774
Neuromuscular Diseases	Associate	26578207
Osteogenesis imperfecta type 2B	Associate	21531865
Pneumonia of Calves Enzootic	Associate	38275606
Pulmonary Disease Chronic Obstructive	Associate	30111857
Scoliosis	Associate	34440395, 38275606
Spondylocarpotarsal synostosis	Associate	27381093, 28205584, 29805041