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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56203
Gene name	Leiomodin 3
Gene symbol	LMOD3
Synonyms (NCBI Gene)	NEM10
Chromosome	3
Chromosome location	3p14.1
Summary	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

263

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 (26)

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
GO:0005523	Function	Tropomyosin binding	IEA
GO:0005523	Function	Tropomyosin binding	IMP	25250574
GO:0005737	Component	Cytoplasm	IDA	25250574
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005865	Component	Striated muscle thin filament	IBA
GO:0005865	Component	Striated muscle thin filament	IDA	25250574
GO:0006936	Process	Muscle contraction	IBA
GO:0006941	Process	Striated muscle contraction	IMP	25250574
GO:0007015	Process	Actin filament organization	IBA
GO:0030016	Component	Myofibril	IBA
GO:0030239	Process	Myofibril assembly	IBA
GO:0030240	Process	Skeletal muscle thin filament assembly	IMP	25250574
GO:0031430	Component	M band	IDA	25250574
GO:0031430	Component	M band	IEA
GO:0031672	Component	A band	IEA
GO:0045010	Process	Actin nucleation	IMP	25250574
GO:0048741	Process	Skeletal muscle fiber development	IEA
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
GO:0055002	Process	Striated muscle cell development	IEA

MIM	HGNC	e!Ensembl
616112	6649	ENSG00000163380

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

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
LMOD3-related disorder	Likely pathogenic; Pathogenic	rs769824247	RCV004757362	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nemaline myopathy 10	Likely pathogenic; Pathogenic	rs2092413018, rs1300427865, rs2092391598, rs778840325, rs2107526137, rs2107525795, rs1369933918, rs2107526351, rs1212229943, rs2107526111, rs2092396963, rs727502797, rs724159964, rs727502799, rs724159965 View all (16 more)	RCV001328828 RCV003586848 RCV001783605 RCV001783607 RCV001874108 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 24	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE CONGENITAL NEMALINE MYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPICAL NEMALINE MYOPATHY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthrogryposis	Arthrogryposis	Pubtator	33820833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	33820833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	25250574, 28815944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kleine-Levin Syndrome	Kleine-Levin Syndrome	BEFREE	29923248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	28815944, 37956287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	24960163, 25250574, 28815944, 29331079, 30642739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	36036911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	28815944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEMALINE MYOPATHY 10	Nemaline myopathy	CLINGEN_DG	24960163, 25250574, 25774500, 26035871, 28815944, 30291184		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEMALINE MYOPATHY 10	Nemaline myopathy	UNIPROT_DG	25250574		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEMALINE MYOPATHY 10	Nemaline myopathy	GENOMICS_ENGLAND_DG	25250574		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEMALINE MYOPATHY 10	Nemaline myopathy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEMALINE MYOPATHY 10	Nemaline myopathy	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe congenital nemaline myopathy	Congenital Nemaline Myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Typical nemaline myopathy	Nemaline myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

LMOD3 (leiomodin 3)