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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:nemaline myopathy
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Accession:DOID:3191 term browser browse the term
Definition:A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. (DO)
Synonyms:exact_synonym: Childhood Onset Nemaline Myopathy;   Late Onset Nemaline Myopathy;   Nemaline Body Disease;   Nemaline Rod Disease;   Rod Body Disease;   Rod Body Myopathy;   Rod Myopathies;   Rod-Body Myopathies;   adult onset nemaline myopathy;   nemaline myopathies;   nemaline rod myopathy;   rod myopathy
 narrow_synonym: nemaline myopathy, autosomal dominant;   nemaline myopathy, autosomal recessive;   nemaline myopathy, dominant;   nemaline myopathy, recessive
 primary_id: MESH:D017696
 xref: EFO:0020036;   GARD:12033;   ICD10CM:G71.21;   OMIM:PS161800;   ORDO:607
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
nemaline myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle TAS
IAGP		 ClinVar Annotator: match by term: Nemaline myopathy ClinVar
RGD		 PMID:19562689 PMID:23757202 PMID:25741868 PMID:27242277 PMID:28492532 More... RGD:1559154 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 IDA RGD PMID:14516314 RGD:1578366 NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G CFL2 cofilin 2 IAGP ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar PMID:28492532 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP ClinVar Annotator: match by term: Nemaline Myopathy, Dominant ClinVar PMID:25741868 NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G KLHL41 kelch like family member 41 IAGP
ISS		 ClinVar Annotator: match by term: Nemaline myopathy ClinVar
MouseDO		 PMID:24268659 PMID:25558065 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G LOC126806373 BRD4-independent group 4 enhancer GRCh37_chr2:152410007-152411206 IAGP ClinVar Annotator: match by term: Nemaline myopathy ClinVar PMID:16199547 PMID:25205138 PMID:25741868 PMID:28492532 PMID:29644095 NCBI chr 2:151,553,493...151,554,692 JBrowse link
G NEB nebulin IAGP ClinVar Annotator: match by term: Nemaline myopathy
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy		 ClinVar PMID:9536098 PMID:12207938 PMID:15336686 PMID:16199547 PMID:16917880 More... NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G RIF1 replication timing regulatory factor 1 IAGP ClinVar Annotator: match by term: Nemaline myopathy
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy		 ClinVar PMID:12207938 PMID:15336686 PMID:16199547 PMID:16917880 PMID:19805734 More... NCBI chr 2:151,409,902...151,534,435
Ensembl chr 2:151,409,883...151,508,013 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: Nemaline Myopathy, Dominant ClinVar PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP ClinVar Annotator: match by term: Nemaline myopathy ClinVar NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
Intranuclear Rod Myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP ClinVar Annotator: match by term: Intranuclear rod myopathy ClinVar PMID:24787270 PMID:25741868 PMID:33667896 PMID:34440373 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
Klippel-Feil syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO18B myosin XVIIIB IAGP
EXP		 ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition
ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25748484 More... NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045 		JBrowse link
G MYO18B-AS1 MYO18B antisense RNA 1 IAGP ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition		 ClinVar PMID:25741868 PMID:25748484 PMID:28492532 PMID:32184166 PMID:32637634 NCBI chr22:25,883,899...25,900,913 JBrowse link
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP ClinVar Annotator: match by term: Myopathy, actin, congenital, with excess of thin myofilaments ClinVar PMID:1351946 PMID:4952447 PMID:9401010 PMID:10508519 PMID:12921789 More... NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
nemaline myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SELENON selenoprotein N IAGP ClinVar Annotator: match by term: Cap myopathy 1 ClinVar PMID:25741868 PMID:30932294 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G TPM3 tropomyosin 3 IAGP
EXP		 ClinVar Annotator: match by term: Congenital myopathy 4B, autosomal recessive
ClinVar Annotator: match by term: Congenital myopathy 4B, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy 1, autosomal dominant or recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cap myopathy 1		 ClinVar
CTD
OMIM		 PMID:1221488 PMID:7663526 PMID:7704029 PMID:9536098 PMID:10587521 More... NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
nemaline myopathy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMOD3 leiomodin 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Nemaline myopathy 10
OMIM:616165
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:25250574 PMID:25741868 PMID:28492532 More... NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G LOC126806710 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:69170601-69171800 IAGP ClinVar Annotator: match by term: Nemaline myopathy 10 ClinVar PMID:25250574 PMID:25741868 PMID:28492532 PMID:28815944 NCBI chr 3:69,121,450...69,122,649 JBrowse link
nemaline myopathy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC132089829 Neanderthal introgressed variant-containing enhancer experimental_16132 IAGP ClinVar Annotator: match by term: MYPN-related myopathy
ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive		 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:68,194,459...68,194,628 JBrowse link
G MYPN myopalladin IAGP
ISS
EXP		 ClinVar Annotator: match by term: MYPN-related myopathy
ClinVar Annotator: match by term: MYPN-related myopathy | ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive
OMIM:617336
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:18006477 PMID:22286171 PMID:23299917 More... NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
nemaline myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive ClinVar PMID:1351946 PMID:9401010 PMID:12921789 PMID:19562689 PMID:22095987 More... NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ARL5A ADP ribosylation factor like GTPase 5A IAGP ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:25205138 PMID:28492532 NCBI chr 2:151,798,797...151,828,421
Ensembl chr 2:151,788,984...151,828,492 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 IAGP ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:25205138 PMID:28492532 NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,771...152,099,167 		JBrowse link
G LOC126806373 BRD4-independent group 4 enhancer GRCh37_chr2:152410007-152411206 IAGP ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:16199547 PMID:25205138 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 2:151,553,493...151,554,692 JBrowse link
G NEB nebulin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Nemaline myopathy 2
OMIM:256030
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:7739042 PMID:9536098 PMID:10051637 PMID:10931867 PMID:11309420 More... NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G RIF1 replication timing regulatory factor 1 IAGP ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:7739042 PMID:9536098 PMID:10051637 PMID:10931867 PMID:11309420 More... NCBI chr 2:151,409,902...151,534,435
Ensembl chr 2:151,409,883...151,508,013 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive ClinVar PMID:27854218 PMID:28492532 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
nemaline myopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP
ISS
EXP		 ClinVar Annotator: match by term: Nemaline myopathy 3, with intranuclear rods | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the alpha-actin gene
ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the alpha-actin gene
OMIM:161800
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1351946 PMID:4952447 PMID:9401010 PMID:10508519 PMID:12921789 More... NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
nemaline myopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPM2 tropomyosin 2 IAGP
EXP		 ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
ClinVar Annotator: match by term: Cap myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TPM2-related cap myopathy		 ClinVar
CTD
OMIM		 PMID:11738357 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 More... NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
nemaline myopathy 5A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAAF3 dynein axonemal assembly factor 3 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAAF3-AS1 DNAAF3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,159,309...55,166,904 JBrowse link
G LOC130065089 ATAC-STARR-seq lymphoblastoid active region 15077 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type
ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type | ClinVar Annotator: match by term: Nemaline myopathy, caused by mutation in the troponin t1 gene		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr19:55,141,272...55,141,331 JBrowse link
G LOC130065090 ATAC-STARR-seq lymphoblastoid silent region 11016 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,160,627...55,160,736 JBrowse link
G LOC130065091 ATAC-STARR-seq lymphoblastoid active region 15078 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,179,755...55,179,834 JBrowse link
G LOC130065092 ATAC-STARR-seq lymphoblastoid active region 15079 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,251,576...55,251,725 JBrowse link
G LOC130065093 ATAC-STARR-seq lymphoblastoid active region 15080 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,253,618...55,253,697 JBrowse link
G LOC130065094 ATAC-STARR-seq lymphoblastoid active region 15081 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,253,928...55,254,147 JBrowse link
G LOC130065095 ATAC-STARR-seq lymphoblastoid active region 15082 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,254,158...55,254,267 JBrowse link
G LOC130065096 ATAC-STARR-seq lymphoblastoid active region 15083 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,254,668...55,254,807 JBrowse link
G LOC130065097 ATAC-STARR-seq lymphoblastoid active region 15084 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,255,108...55,255,157 JBrowse link
G MIR6802 microRNA 6802 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,239,912...55,239,976
Ensembl chr19:55,239,912...55,239,976 		JBrowse link
G MIR6803 microRNA 6803 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,245,186...55,245,250
Ensembl chr19:55,245,186...55,245,250 		JBrowse link
G MIR6804 microRNA 6804 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,230,885...55,230,952
Ensembl chr19:55,230,885...55,230,952 		JBrowse link
G MVK mevalonate kinase IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:16835861 PMID:22246419 PMID:23006543 PMID:24411001 PMID:25741868 More... NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G PPP6R1 protein phosphatase 6 regulatory subunit 1 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,228,218...55,259,017
Ensembl chr19:55,229,779...55,259,017 		JBrowse link
G PTPRH protein tyrosine phosphatase receptor type H IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,181,247...55,209,501
Ensembl chr19:55,181,247...55,209,506 		JBrowse link
G SYT5 synaptotagmin 5 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,171,196...55,180,289
Ensembl chr19:55,171,196...55,180,289 		JBrowse link
G TMEM86B transmembrane protein 86B IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr19:55,226,638...55,228,763
Ensembl chr19:55,226,638...55,228,784 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP
ISS
EXP		 DNA:nonsense mutation:exon:p.E180X (human)
ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type | ClinVar Annotator: match by term: Nemaline myopathy, caused by mutation in the troponin t1 gene
ClinVar Annotator: match by term: Nemaline Myopathy, Amish Type | ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type | ClinVar Annotator: match by term: Nemaline myopathy, caused by mutation in the troponin t1 gene
OMIM:605355
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:5908457 PMID:9536098 PMID:10952871 PMID:12732643 PMID:14315666 More... RGD:737736 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
nemaline myopathy 5B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNT1 troponin T1, slow skeletal type IAGP ClinVar Annotator: match by term: Nemaline myopathy 5B, autosomal recessive, childhood-onset OMIM
ClinVar		 PMID:25741868 PMID:31970803 PMID:35165004 PMID:35510366 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
nemaline myopathy 5C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130065089 ATAC-STARR-seq lymphoblastoid active region 15077 IAGP ClinVar Annotator: match by term: Nemaline myopathy 5C, autosomal dominant ClinVar PMID:35510366 NCBI chr19:55,141,272...55,141,331 JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP ClinVar Annotator: match by term: Nemaline myopathy 5C, autosomal dominant OMIM
ClinVar		 PMID:5908457 PMID:14315666 PMID:28492532 PMID:29178646 PMID:35510366 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
nemaline myopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKDD1A ankyrin repeat and death domain containing 1A IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,911,902...64,958,691
Ensembl chr15:64,911,902...64,958,691 		JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:63,277,605...63,309,126
Ensembl chr15:63,276,018...63,309,126 		JBrowse link
G CA12 carbonic anhydrase 12 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:63,321,378...63,381,846
Ensembl chr15:63,321,378...63,381,846 		JBrowse link
G CIAO2A cytosolic iron-sulfur assembly component 2A IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,072,565...64,093,838
Ensembl chr15:64,072,565...64,093,857 		JBrowse link
G CILP cartilage intermediate layer protein IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,194,760...65,211,473
Ensembl chr15:65,194,760...65,211,473 		JBrowse link
G CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,148,219...65,185,342
Ensembl chr15:65,148,219...65,185,342 		JBrowse link
G CSNK1G1 casein kinase 1 gamma 1 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,165,525...64,356,173
Ensembl chr15:64,165,525...64,356,173 		JBrowse link
G DAPK2 death associated protein kinase 2 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:63,907,036...64,046,485
Ensembl chr15:63,907,036...64,072,033 		JBrowse link
G DENND4A DENN domain containing 4A IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,659,123...65,792,293
Ensembl chr15:65,658,046...65,792,293 		JBrowse link
G DPP8 dipeptidyl peptidase 8 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,442,467...65,517,689
Ensembl chr15:65,442,463...65,517,704 		JBrowse link
G FBXL22 F-box and leucine rich repeat protein 22 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:63,597,387...63,608,516
Ensembl chr15:63,597,353...63,602,428 		JBrowse link
G HACD3 3-hydroxyacyl-CoA dehydratase 3 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,530,463...65,578,349
Ensembl chr15:65,530,418...65,578,349 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G IGDCC3 immunoglobulin superfamily DCC subclass member 3 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,327,127...65,378,002
Ensembl chr15:65,327,127...65,378,002 		JBrowse link
G IGDCC4 immunoglobulin superfamily DCC subclass member 4 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,381,484...65,422,947
Ensembl chr15:65,381,484...65,422,947 		JBrowse link
G INTS14 integrator complex subunit 14 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,578,757...65,611,131
Ensembl chr15:65,578,753...65,611,289 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Nemaline myopathy 6
OMIM:609273
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:18414213 PMID:21104864 PMID:21109227 PMID:21681106 PMID:24525055 More... NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G LACTB lactamase beta IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:63,121,861...63,142,061
Ensembl chr15:63,121,833...63,142,061 		JBrowse link
G MEGF11 multiple EGF like domains 11 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,895,299...66,253,750
Ensembl chr15:65,895,079...66,253,756 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639 		JBrowse link
G OAZ2 ornithine decarboxylase antizyme 2 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,687,574...64,703,281
Ensembl chr15:64,687,573...64,703,281 		JBrowse link
G PARP16 poly(ADP-ribose) polymerase family member 16 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,230,917...65,286,883
Ensembl chr15:65,234,460...65,300,618 		JBrowse link
G PCLAF PCNA clamp associated factor IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,364,304...64,387,687
Ensembl chr15:64,364,304...64,387,687 		JBrowse link
G PDCD7 programmed cell death 7 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,117,379...65,133,808
Ensembl chr15:65,117,379...65,133,808 		JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,815,632...64,827,062
Ensembl chr15:64,815,632...64,825,668 		JBrowse link
G PLEKHO2 pleckstrin homology domain containing O2 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,841,915...64,868,002
Ensembl chr15:64,841,883...64,868,002 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134 		JBrowse link
G RAB11A RAB11A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,869,491...65,891,989
Ensembl chr15:65,726,054...65,891,989 		JBrowse link
G RAB8B RAB8B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:63,189,606...63,267,776
Ensembl chr15:63,189,560...63,267,776 		JBrowse link
G RASL12 RAS like family 12 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr15:65,045,580...65,076,667
Ensembl chr15:65,053,337...65,076,690 		JBrowse link
G RBPMS2 RNA binding protein, mRNA processing factor 2 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,739,891...64,775,589
Ensembl chr15:64,739,891...64,775,589 		JBrowse link
G RNU5A-1 RNA, U5A small nuclear 1 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,296,051...65,296,167
Ensembl chr15:65,296,051...65,296,166 		JBrowse link
G RPS27L ribosomal protein S27 like IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:63,148,249...63,157,477
Ensembl chr15:63,125,872...63,158,021 		JBrowse link
G SLC24A1 solute carrier family 24 member 1 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,611,350...65,661,002
Ensembl chr15:65,611,366...65,660,995 		JBrowse link
G SLC51B SLC51 subunit beta IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr15:65,045,387...65,053,397
Ensembl chr15:65,045,387...65,053,397 		JBrowse link
G SNX1 sorting nexin 1 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,095,982...64,144,231
Ensembl chr15:64,094,123...64,146,090 		JBrowse link
G SNX22 sorting nexin 22 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,151,731...64,157,481
Ensembl chr15:64,151,715...64,157,481 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
G UBAP1L ubiquitin associated protein 1 like IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:65,092,760...65,115,200
Ensembl chr15:65,092,760...65,115,200 		JBrowse link
G USP3 ubiquitin specific peptidase 3 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:63,504,593...63,594,633
Ensembl chr15:63,504,511...63,594,640 		JBrowse link
G ZNF609 zinc finger protein 609 IAGP ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr15:64,459,578...64,686,068
Ensembl chr15:64,460,578...64,686,068 		JBrowse link
nemaline myopathy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFL2 cofilin 2 IAGP
EXP		 ClinVar Annotator: match by term: Nemaline myopathy 7
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17160903 PMID:17576681 PMID:18414213 PMID:22560515 More... NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G LOC130055474 ATAC-STARR-seq lymphoblastoid silent region 5667 IAGP ClinVar Annotator: match by term: Nemaline myopathy 7 ClinVar PMID:28492532 NCBI chr14:34,714,290...34,714,349 JBrowse link
G LOC130055475 ATAC-STARR-seq lymphoblastoid silent region 5668 IAGP ClinVar Annotator: match by term: Nemaline myopathy 7 ClinVar PMID:28492532 NCBI chr14:34,714,440...34,715,029 JBrowse link
nemaline myopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL40 kelch like family member 40 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Nemaline myopathy 8
OMIM:615348
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746549 PMID:24033266 More... NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544 		JBrowse link
nemaline myopathy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL41 kelch like family member 41 IAGP
EXP		 ClinVar Annotator: match by term: Nemaline myopathy 9
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16199547 PMID:24268659 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32348
      musculoskeletal system disease 11647
        muscular disease 2811
          muscle tissue disease 1719
            myopathy 1395
              congenital myopathy 329
                nemaline myopathy 85
                  Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 0
                  Intranuclear Rod Myopathy 1
                  Klippel-Feil syndrome 4 2
                  Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 1
                  nemaline myopathy 1 2
                  nemaline myopathy 10 2
                  nemaline myopathy 11 2
                  nemaline myopathy 2 7
                  nemaline myopathy 3 1
                  nemaline myopathy 4 1
                  nemaline myopathy 5A 21
                  nemaline myopathy 5B 1
                  nemaline myopathy 5C 2
                  nemaline myopathy 6 42
                  nemaline myopathy 7 3
                  nemaline myopathy 8 1
                  nemaline myopathy 9 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32348
      nervous system disease 26239
        peripheral nervous system disease 5386
          neuropathy 5133
            neuromuscular disease 4046
              muscular disease 2811
                muscle tissue disease 1719
                  myopathy 1395
                    congenital myopathy 329
                      nemaline myopathy 85
                        Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 0
                        Intranuclear Rod Myopathy 1
                        Klippel-Feil syndrome 4 2
                        Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 1
                        nemaline myopathy 1 2
                        nemaline myopathy 10 2
                        nemaline myopathy 11 2
                        nemaline myopathy 2 7
                        nemaline myopathy 3 1
                        nemaline myopathy 4 1
                        nemaline myopathy 5A 21
                        nemaline myopathy 5B 1
                        nemaline myopathy 5C 2
                        nemaline myopathy 6 42
                        nemaline myopathy 7 3
                        nemaline myopathy 8 1
                        nemaline myopathy 9 1
paths to the root