Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56203
Gene name Gene Name - the full gene name approved by the HGNC.	Leiomodin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LMOD3
Synonyms (NCBI Gene) Gene synonyms aliases	NEM10
Disease Acronyms (UniProt) Disease acronyms from UniProt database	NEM10
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p14.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Locali

Show/Hide all(14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199655993	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs724159964	G>A	Pathogenic	Stop gained, coding sequence variant
rs724159965	C>A	Pathogenic	Stop gained, coding sequence variant
rs727502797	->G	Pathogenic	Coding sequence variant, frameshift variant
rs727502798	GTT>-	Pathogenic	Coding sequence variant, inframe deletion
rs727502799	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs769824247	CTCCCATCCAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs775919681	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1057519128	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057519129	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1274699363	CTTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1368453406	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1426709672	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553687898	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(263)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017341	hsa-miR-335-5p	Microarray	18185580
MIRT674280	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT674279	hsa-miR-3976	HITS-CLIP	23824327
MIRT674278	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT515116	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT674277	hsa-miR-633	HITS-CLIP	23824327
MIRT674276	hsa-miR-548s	HITS-CLIP	23824327
MIRT674275	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT674274	hsa-miR-588	HITS-CLIP	23824327
MIRT674273	hsa-miR-4435	HITS-CLIP	23824327
MIRT674272	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT674271	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT674270	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT515109	hsa-miR-5096	HITS-CLIP	23824327
MIRT674269	hsa-miR-1303	HITS-CLIP	23824327
MIRT515123	hsa-miR-5680	PAR-CLIP	23446348
MIRT515114	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT515121	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT515122	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT515120	hsa-miR-3155a	PAR-CLIP	23446348
MIRT515119	hsa-miR-3155b	PAR-CLIP	23446348
MIRT515118	hsa-miR-484	PAR-CLIP	23446348
MIRT515117	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT515116	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT515115	hsa-miR-6801-5p	PAR-CLIP	23446348
MIRT515114	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT515113	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT515112	hsa-miR-3170	PAR-CLIP	23446348
MIRT515110	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT515111	hsa-miR-5587-5p	PAR-CLIP	23446348
MIRT515109	hsa-miR-5096	PAR-CLIP	23446348
MIRT441566	hsa-miR-548aa	PAR-CLIP	22100165
MIRT441565	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT441564	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT441563	hsa-miR-223-5p	PAR-CLIP	22100165
MIRT441561	hsa-miR-6867-5p	PAR-CLIP	22100165
MIRT441562	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT441560	hsa-miR-574-5p	PAR-CLIP	22100165
MIRT441566	hsa-miR-548aa	PAR-CLIP	22100165
MIRT441565	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT441564	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT441563	hsa-miR-223-5p	PAR-CLIP	22100165
MIRT441561	hsa-miR-6867-5p	PAR-CLIP	22100165
MIRT441562	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT441560	hsa-miR-574-5p	PAR-CLIP	22100165
MIRT674280	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT674279	hsa-miR-3976	HITS-CLIP	23824327
MIRT674278	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT515116	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT674277	hsa-miR-633	HITS-CLIP	23824327
MIRT674276	hsa-miR-548s	HITS-CLIP	23824327
MIRT674275	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT674274	hsa-miR-588	HITS-CLIP	23824327
MIRT674273	hsa-miR-4435	HITS-CLIP	23824327
MIRT674272	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT674271	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT674270	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT515109	hsa-miR-5096	HITS-CLIP	23824327
MIRT674269	hsa-miR-1303	HITS-CLIP	23824327
MIRT515123	hsa-miR-5680	PAR-CLIP	23446348
MIRT515114	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT515121	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT515122	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT515120	hsa-miR-3155a	PAR-CLIP	23446348
MIRT515119	hsa-miR-3155b	PAR-CLIP	23446348
MIRT515118	hsa-miR-484	PAR-CLIP	23446348
MIRT515117	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT515116	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT515115	hsa-miR-6801-5p	PAR-CLIP	23446348
MIRT515114	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT515113	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT515112	hsa-miR-3170	PAR-CLIP	23446348
MIRT515110	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT515111	hsa-miR-5587-5p	PAR-CLIP	23446348
MIRT515109	hsa-miR-5096	PAR-CLIP	23446348
MIRT441566	hsa-miR-548aa	PAR-CLIP	22100165
MIRT441565	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT441564	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT441563	hsa-miR-223-5p	PAR-CLIP	22100165
MIRT441561	hsa-miR-6867-5p	PAR-CLIP	22100165
MIRT441562	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT441560	hsa-miR-574-5p	PAR-CLIP	22100165
MIRT441566	hsa-miR-548aa	PAR-CLIP	22100165
MIRT441565	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT441564	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT441563	hsa-miR-223-5p	PAR-CLIP	22100165
MIRT441561	hsa-miR-6867-5p	PAR-CLIP	22100165
MIRT441562	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT441560	hsa-miR-574-5p	PAR-CLIP	22100165
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT1112028	hsa-miR-141	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT1112029	hsa-miR-1976	CLIP-seq
MIRT1112030	hsa-miR-200a	CLIP-seq
MIRT1112031	hsa-miR-3136-3p	CLIP-seq
MIRT1112032	hsa-miR-3182	CLIP-seq
MIRT1112033	hsa-miR-338-5p	CLIP-seq
MIRT1112034	hsa-miR-4279	CLIP-seq
MIRT1112035	hsa-miR-4438	CLIP-seq
MIRT1112036	hsa-miR-4534	CLIP-seq
MIRT1112037	hsa-miR-4652-3p	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT1112038	hsa-miR-4722-3p	CLIP-seq
MIRT1112039	hsa-miR-4740-3p	CLIP-seq
MIRT1112040	hsa-miR-4763-5p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT1112041	hsa-miR-498	CLIP-seq
MIRT1112042	hsa-miR-5095	CLIP-seq
MIRT1112043	hsa-miR-550a	CLIP-seq
MIRT1112044	hsa-miR-552	CLIP-seq
MIRT1112045	hsa-miR-764	CLIP-seq
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT1112036	hsa-miR-4534	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT2031271	hsa-miR-2355-5p	CLIP-seq
MIRT2031272	hsa-miR-3135b	CLIP-seq
MIRT1112031	hsa-miR-3136-3p	CLIP-seq
MIRT2031273	hsa-miR-3652	CLIP-seq
MIRT2031274	hsa-miR-4430	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT1112038	hsa-miR-4722-3p	CLIP-seq
MIRT1112040	hsa-miR-4763-5p	CLIP-seq
MIRT2031275	hsa-miR-4769-3p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT2031276	hsa-miR-4772-3p	CLIP-seq
MIRT1112041	hsa-miR-498	CLIP-seq
MIRT1112043	hsa-miR-550a	CLIP-seq
MIRT1112045	hsa-miR-764	CLIP-seq
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT2262171	hsa-miR-197	CLIP-seq
MIRT2031271	hsa-miR-2355-5p	CLIP-seq
MIRT2031272	hsa-miR-3135b	CLIP-seq
MIRT2262172	hsa-miR-3149	CLIP-seq
MIRT2031273	hsa-miR-3652	CLIP-seq
MIRT2262173	hsa-miR-3655	CLIP-seq
MIRT2031274	hsa-miR-4430	CLIP-seq
MIRT1112036	hsa-miR-4534	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT2262174	hsa-miR-4735-5p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT2031276	hsa-miR-4772-3p	CLIP-seq
MIRT2262175	hsa-miR-4775	CLIP-seq
MIRT2262176	hsa-miR-570	CLIP-seq
MIRT2262177	hsa-miR-590-3p	CLIP-seq
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT1112036	hsa-miR-4534	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT1112031	hsa-miR-3136-3p	CLIP-seq
MIRT1112036	hsa-miR-4534	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT2430783	hsa-miR-4727-5p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT2430784	hsa-miR-520d-5p	CLIP-seq
MIRT2430785	hsa-miR-524-5p	CLIP-seq
MIRT2430786	hsa-miR-543	CLIP-seq
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT1112036	hsa-miR-4534	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT740136	hsa-miR-1273f	CLIP-seq
MIRT740140	hsa-miR-129-5p	CLIP-seq
MIRT740138	hsa-miR-143	CLIP-seq
MIRT1112036	hsa-miR-4534	CLIP-seq
MIRT740137	hsa-miR-4708-5p	CLIP-seq
MIRT740139	hsa-miR-4770	CLIP-seq
MIRT2453079	hsa-miR-1261	CLIP-seq
MIRT1112029	hsa-miR-1976	CLIP-seq
MIRT2031271	hsa-miR-2355-5p	CLIP-seq
MIRT2262172	hsa-miR-3149	CLIP-seq
MIRT1112034	hsa-miR-4279	CLIP-seq
MIRT1112038	hsa-miR-4722-3p	CLIP-seq
MIRT2262174	hsa-miR-4735-5p	CLIP-seq
MIRT2262175	hsa-miR-4775	CLIP-seq
MIRT1112041	hsa-miR-498	CLIP-seq
MIRT2453080	hsa-miR-513a-3p	CLIP-seq
MIRT2262177	hsa-miR-590-3p	CLIP-seq
MIRT2561871	hsa-miR-1267	CLIP-seq
MIRT1112029	hsa-miR-1976	CLIP-seq
MIRT2561872	hsa-miR-2116	CLIP-seq
MIRT2031271	hsa-miR-2355-5p	CLIP-seq
MIRT2262172	hsa-miR-3149	CLIP-seq
MIRT2561873	hsa-miR-4273	CLIP-seq
MIRT1112034	hsa-miR-4279	CLIP-seq
MIRT2561874	hsa-miR-4659a-3p	CLIP-seq
MIRT2561875	hsa-miR-4659b-3p	CLIP-seq
MIRT2561876	hsa-miR-4677-5p	CLIP-seq
MIRT1112038	hsa-miR-4722-3p	CLIP-seq
MIRT2262174	hsa-miR-4735-5p	CLIP-seq
MIRT1112039	hsa-miR-4740-3p	CLIP-seq
MIRT1112040	hsa-miR-4763-5p	CLIP-seq
MIRT2031275	hsa-miR-4769-3p	CLIP-seq
MIRT2262175	hsa-miR-4775	CLIP-seq
MIRT2561877	hsa-miR-4777-5p	CLIP-seq
MIRT1112041	hsa-miR-498	CLIP-seq
MIRT2561878	hsa-miR-518d-5p	CLIP-seq
MIRT2561879	hsa-miR-519b-5p	CLIP-seq
MIRT2561880	hsa-miR-519c-5p	CLIP-seq
MIRT2561881	hsa-miR-520c-5p	CLIP-seq
MIRT2561882	hsa-miR-526a	CLIP-seq
MIRT1112043	hsa-miR-550a	CLIP-seq
MIRT2561883	hsa-miR-578	CLIP-seq
MIRT2262177	hsa-miR-590-3p	CLIP-seq
MIRT2561884	hsa-miR-760	CLIP-seq
MIRT2561871	hsa-miR-1267	CLIP-seq
MIRT1112029	hsa-miR-1976	CLIP-seq
MIRT2561872	hsa-miR-2116	CLIP-seq
MIRT2031271	hsa-miR-2355-5p	CLIP-seq
MIRT2262172	hsa-miR-3149	CLIP-seq
MIRT2561873	hsa-miR-4273	CLIP-seq
MIRT1112034	hsa-miR-4279	CLIP-seq
MIRT2561874	hsa-miR-4659a-3p	CLIP-seq
MIRT2561875	hsa-miR-4659b-3p	CLIP-seq
MIRT2561876	hsa-miR-4677-5p	CLIP-seq
MIRT1112038	hsa-miR-4722-3p	CLIP-seq
MIRT2262174	hsa-miR-4735-5p	CLIP-seq
MIRT2262175	hsa-miR-4775	CLIP-seq
MIRT2561877	hsa-miR-4777-5p	CLIP-seq
MIRT1112041	hsa-miR-498	CLIP-seq
MIRT2561878	hsa-miR-518d-5p	CLIP-seq
MIRT2561879	hsa-miR-519b-5p	CLIP-seq
MIRT2561880	hsa-miR-519c-5p	CLIP-seq
MIRT2561881	hsa-miR-520c-5p	CLIP-seq
MIRT2561882	hsa-miR-526a	CLIP-seq
MIRT2561883	hsa-miR-578	CLIP-seq
MIRT2262177	hsa-miR-590-3p	CLIP-seq
MIRT2561884	hsa-miR-760	CLIP-seq

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003785	Function	Actin monomer binding	IMP	25250574
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005523	Function	Tropomyosin binding	IBA	21873635
GO:0005523	Function	Tropomyosin binding	IMP	25250574
GO:0005737	Component	Cytoplasm	IDA	25250574
GO:0005856	Component	Cytoskeleton	IBA	21873635
GO:0005865	Component	Striated muscle thin filament	IBA	21873635
GO:0005865	Component	Striated muscle thin filament	IDA	25250574
GO:0006936	Process	Muscle contraction	IBA	21873635
GO:0006941	Process	Striated muscle contraction	IMP	25250574
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0030016	Component	Myofibril	IBA	21873635
GO:0030239	Process	Myofibril assembly	IBA	21873635
GO:0030240	Process	Skeletal muscle thin filament assembly	IMP	25250574
GO:0031430	Component	M band	IDA	25250574
GO:0045010	Process	Actin nucleation	IMP	25250574
GO:0048741	Process	Skeletal muscle fiber development	ISS
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	IMP	25250574
GO:0051694	Process	Pointed-end actin filament capping	IEA

MIM	HGNC	e!Ensembl
616112	6649	ENSG00000163380

Protein

UniProt ID

Q0VAK6

Protein name

Leiomodin-3 (Leiomodin, fetal form)

Protein function

Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03250	Tropomodulin	7 → 174	Tropomodulin	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in cardiac and at higher levels in skeletal muscles (at protein level). {ECO:0000269|PubMed:25250574}.

Sequence

MSEHSRNSDQEELLDEEINEDEILANLSAEELKELQSEMEVMAPDPSLPVGMIQKDQTDK
PPTGNFNHKSLVDYMYWEKASRRMLEEERVPVTFVKSEEKTQEEHEEIEKRNKNMAQYLK
EKLNNEIVANKRESKGSSNIQETDEEDEEEEDDDDDDEGEDDGEESEETNREEEGKAKEQ
IRNCENNCQQVTDKAFKEQRDRPEAQEQSEKKISKLDPKKLALDTSFLKVSTRPSGNQTD
LDGSLRRVRKNDPDMKELNLNNIENIPKEMLLDFVNAMKKNKHIKTFSLANVGADENVAF
ALANMLRENRSITTLNIESNFITGKGIVAIMRCLQFNETLTELRFHNQRHMLGHHAEMEI
ARLLKANNTLLKMGYHFELPGPRMVVTNLLTRNQDKQRQKRQEEQKQQQLKEQKKLIAML
ENGLGLPPGMWELLGGPKPDSRMQEFFQPPPPRPPNPQNVPFSQRSEMMKKPSQAPKYRT
DPDSFRVVKLKRIQRKSRMPEAREPPEKTNLKDVIKTLKPVPRNRPPPLVEITPRDQLLN
DIRHSSVAYLKPVQLPKELA

Sequence length

560

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835 View all (138 more)
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Nemaline myopathy	NEMALINE MYOPATHY 10, Typical nemaline myopathy	rs80358250, rs80358249, rs121964854, rs1057515573, rs1057515574, rs121913662, rs1057515575, rs1364598710, rs387907090, rs397509419, rs367579275, rs397509420, rs397509421, rs398124167, rs398124172 View all (394 more)	28815944, 25250574, 25774500, 24960163, 26035871, 30291184
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Pulmonary hypoplasia	Congenital hypoplasia of lung	ClinVar
Ptosis	Blepharoptosis, Ptosis	ClinVar
Congenital Nemaline Myopathy	severe congenital nemaline myopathy	GenCC

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining
Arthrogryposis	Associate	33820833
Bone Diseases Developmental	Associate	33820833
Disorders of Excessive Somnolence	Associate	35299092
Fasciculation	Associate	37956287
Fractures Bone	Associate	28815944
Infant Newborn Diseases	Associate	28815944
Kleine Levin Syndrome	Associate	35299092
Myopathies Nemaline	Associate	28815944, 37956287
Myopia	Associate	36036911
Myotonia Congenita	Associate	28815944

LMOD3 (leiomodin 3)