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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:spinal muscular atrophy
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Accession:DOID:12377 term browser browse the term
Definition:A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. (DO)
Synonyms:exact_synonym: adult onset spinal muscular atrophy;   bulbospinal neuronopathies;   bulbospinal neuronopathy;   distal spinal muscular atrophy;   hereditary motor neuronopathies;   hereditary motor neuronopathy;   myelopathic muscular atrophy;   oculopharyngeal spinal muscular atrophy;   progressive myelopathic muscular atrophy;   progressive proximal myelopathic muscular atrophy;   spinal amyotrophies;   spinal amyotrophy
 narrow_synonym: proximal spinal muscular atrophy;   spinal muscular atrophy, dominant
 primary_id: MESH:D009134
 xref: EFO:0003823;   EFO:0008525;   GARD:7674;   ICD10CM:G12.9;   ICD9CM:335.1;   NCI:C85075
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 5:53,399,717...53,433,472
Ensembl chr 5:53,395,638...53,433,461 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr 9:84,248,133...84,257,276
Ensembl chr 9:84,247,241...84,257,170 		JBrowse link
G AR androgen receptor ISO RGD PMID:10400640 RGD:1578680 NCBI chr  X:57,380,587...57,553,613
Ensembl chr  X:57,380,611...57,546,776 		JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 More... NCBI chr12:103,232,602...103,281,317
Ensembl chr12:103,232,327...103,281,288 		JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr14:32,885,483...32,916,491
Ensembl chr14:32,885,623...32,916,145 		JBrowse link
G DPP6 dipeptidyl peptidase like 6 susceptibility ISO DNA:SNP:intron: (rs10260404) (human) RGD PMID:19332697 RGD:5687182 NCBI chr21:121,882,842...123,035,787
Ensembl chr21:122,441,548...123,035,792 		JBrowse link
G DST dystonin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:16199547 PMID:25059916 PMID:28492532 NCBI chr17:14,652,044...15,133,172
Ensembl chr17:14,652,233...15,133,862 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:25512093 PMID:28492532 NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 7:105,214,231...105,252,100
Ensembl chr 7:105,213,653...105,254,502 		JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Proximal spinal muscular atrophy ClinVar NCBI chr24:69,626,498...69,703,146
Ensembl chr24:69,626,339...69,703,108 		JBrowse link
G FBXO38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr23:51,020,119...51,079,317
Ensembl chr23:51,020,127...51,079,308 		JBrowse link
G FUS FUS RNA binding protein ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 5:27,870,456...27,881,563
Ensembl chr 5:27,870,330...27,882,145 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy		 ClinVar PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17035524 More... NCBI chr21:27,750,532...27,791,143
Ensembl chr21:27,749,514...27,790,881 		JBrowse link
G HDAC4 histone deacetylase 4 ISO mRNA:increased expression:muscle: RGD PMID:22798624 RGD:9681458 NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227 		JBrowse link
G HEXB hexosaminidase subunit beta ISO DNA,protein:point_mutations:CDS:compound heterozygosity for A619G/I207V and A1367C/Y456S RGD PMID:1720305 RGD:1599424 NCBI chr 4:69,037,532...69,065,925
Ensembl chr 4:69,037,583...69,065,814 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr28:10,442,530...10,443,804
Ensembl chr28:10,442,398...10,443,855 		JBrowse link
G HSPB3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25741868 NCBI chr 4:50,732,737...50,733,744
Ensembl chr 4:50,733,157...50,733,609 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:14506069 PMID:14681881 PMID:15108294 PMID:15290238 PMID:16199547 More... NCBI chr 1:5,619,138...5,655,033
Ensembl chr 1:5,619,425...5,655,737 		JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO protein:decreased expression:second lumbar spinal cord segment, motor neuron, neuronal cell body (mouse) RGD PMID:28504671 RGD:126908005 NCBI chr 2:14,510,176...14,623,054
Ensembl chr 2:14,510,464...14,619,023 		JBrowse link
G LITAF lipopolysaccharide induced TNF factor ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 5:11,023,158...11,099,133
Ensembl chr 5:11,021,717...11,059,149 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr11:53,397,380...53,410,596 JBrowse link
G MORC2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:7964809 PMID:12601114 PMID:25741868 PMID:26497905 PMID:26659848 More... NCBI chr19:13,817,597...13,859,986
Ensembl chr19:13,815,467...13,858,633 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:levator auris longus, transversus abdominis (mouse) RGD PMID:22153987 RGD:6767297 NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr20:125,223,074...125,276,115
Ensembl chr20:125,244,593...125,275,676 		JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:14,527,892...14,563,223
Ensembl chr16:14,527,672...14,563,171 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 6:34,851,977...34,870,413
Ensembl chr 6:34,851,979...34,864,967 		JBrowse link
G SCO2 SCO2, cytochrome c oxidase assembly protein ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:2005900 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:32,995,153...32,997,249
Ensembl chr19:32,995,196...32,995,996 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy ClinVar PMID:9467005 PMID:9497266 PMID:15106121 PMID:21438761 PMID:21494555 More... NCBI chr12:5,773,122...5,872,372
Ensembl chr12:5,773,165...5,875,481 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:16199547 PMID:20220177 PMID:25614874 PMID:25741868 PMID:27068304 More... NCBI chr23:51,615,754...51,677,650 JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr14:11,346,281...11,373,754
Ensembl chr14:11,347,861...11,370,297 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25741868 PMID:28492532 PMID:30548380 PMID:31332438 PMID:32811770 More... NCBI chr12:9,503,752...9,585,297
Ensembl chr12:9,503,367...9,585,268 		JBrowse link
G SV2A synaptic vesicle glycoprotein 2A ISO protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) RGD PMID:28173138 RGD:11535337
G SV2B synaptic vesicle glycoprotein 2B ISO protein:decreased expression:multiple (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr29:9,691,421...9,875,657
Ensembl chr29:9,806,570...9,872,782 		JBrowse link
G SV2C synaptic vesicle glycoprotein 2C ISO protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr 4:70,358,164...70,601,764
Ensembl chr 4:70,358,236...70,601,242 		JBrowse link
G SYT2 synaptotagmin 2 ISO protein:decreased expression:multiple (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr25:26,702,627...26,821,108
Ensembl chr25:26,808,007...26,817,314 		JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:30503856 NCBI chr20:11,895,882...11,916,981
Ensembl chr20:11,896,380...11,916,031 		JBrowse link
G TLL2 tolloid like 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:25741868 NCBI chr 9:89,521,609...89,669,630 JBrowse link
G TNFRSF25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr20:125,276,632...125,282,090
Ensembl chr20:125,277,680...125,281,995 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 More... NCBI chr11:105,020,972...105,072,660 JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:2005900 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215 		JBrowse link
G VAPB VAMP associated protein B and C onset ISO DNA:missense mutation:cds:p.P56S (human)
ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant		 RGD
ClinVar		 PMID:15372378 RGD:5688230 NCBI chr 2:5,686,294...5,740,855
Ensembl chr 2:5,687,611...5,740,740 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:18414213 PMID:25741868 PMID:27281532 PMID:28492532 PMID:31090908 More... NCBI chr24:74,686,102...74,770,496
Ensembl chr24:74,686,111...74,770,874 		JBrowse link
autosomal dominant adult-onset proximal spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type ClinVar PMID:25741868 PMID:28492532 NCBI chr20:121,393,478...121,567,704
Ensembl chr20:121,395,836...121,546,803 		JBrowse link
G VAPB VAMP associated protein B and C ISO ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: FINKEL LATE-ADULT TYPE SMA | ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type OMIM
ClinVar		 PMID:15372378 PMID:16187141 PMID:16967488 PMID:17804640 PMID:18322265 More... NCBI chr 2:5,686,294...5,740,855
Ensembl chr 2:5,687,611...5,740,740 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 More... NCBI chr12:103,232,602...103,281,317
Ensembl chr12:103,232,327...103,281,288 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:23664120 More... NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar NCBI chr13:64,054,000...64,186,800
Ensembl chr13:64,054,002...64,186,714 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:17101916 PMID:20301420 PMID:22462675 PMID:25168514 NCBI chr21:27,750,532...27,791,143
Ensembl chr21:27,749,514...27,790,881 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:2545169 PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 More... NCBI chr 1:5,619,138...5,655,033
Ensembl chr 1:5,619,425...5,655,737 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:18585512 PMID:18926329 PMID:25741868 PMID:25886484 PMID:28152038 More... NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:26659848 PMID:28492532 PMID:31475037 NCBI chr19:13,817,597...13,859,986
Ensembl chr19:13,815,467...13,858,633 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:19696032 PMID:22088787 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:5,773,122...5,872,372
Ensembl chr12:5,773,165...5,875,481 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 More... NCBI chr11:105,020,972...105,072,660 JBrowse link
autosomal dominant distal hereditary motor neuronopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1 ClinVar PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 NCBI chr 1:5,619,138...5,655,033
Ensembl chr 1:5,619,425...5,655,737 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMILIN1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: EMILIN1-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 10 OMIM
ClinVar		 PMID:25741868 PMID:26462740 PMID:28492532 PMID:31978608 PMID:36351433 NCBI chr14:80,531,973...80,539,820 JBrowse link
autosomal dominant distal hereditary motor neuronopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 11 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420 More... NCBI chr12:9,503,752...9,585,297
Ensembl chr12:9,503,367...9,585,268 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B ClinVar PMID:24002164 PMID:28492532 NCBI chr12:103,232,602...103,281,317
Ensembl chr12:103,232,327...103,281,288 		JBrowse link
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: DHMN VB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B OMIM
ClinVar		 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:20718791 More... NCBI chr14:20,819,318...20,924,484
Ensembl chr14:20,820,275...20,940,683 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VC OMIM
ClinVar		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:12362029 PMID:14557463 More... NCBI chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCTN1 dynactin subunit 1 susceptibility ISO ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B ClinVar
OMIM		 PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chr14:32,885,483...32,916,491
Ensembl chr14:32,885,623...32,916,145 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr21:27,750,532...27,791,143
Ensembl chr21:27,749,514...27,790,881 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16199547 PMID:16714318 PMID:18425620 PMID:21715711 PMID:22206013 More... NCBI chr20:119,787,700...119,818,455
Ensembl chr20:119,787,370...119,816,693 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:7693129 PMID:20571287 PMID:25694466 PMID:28492532 NCBI chr20:2,662,163...2,668,393
Ensembl chr20:2,665,737...2,668,393 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16728649 PMID:17564964 NCBI chr20:125,223,074...125,276,115
Ensembl chr20:125,244,593...125,275,676 		JBrowse link
G SCN11A sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970 PMID:25741868 PMID:28492532 NCBI chr15:466,295...575,460
Ensembl chr15:467,210...575,110 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr12:5,773,122...5,872,372
Ensembl chr12:5,773,165...5,875,481 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025 PMID:28492532 NCBI chr23:51,615,754...51,677,650 JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 More... NCBI chr11:105,020,972...105,072,660 JBrowse link
autosomal dominant distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 More... NCBI chr23:51,020,119...51,079,317
Ensembl chr23:51,020,127...51,079,308 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25220807 More... NCBI chr28:10,442,530...10,443,804
Ensembl chr28:10,442,398...10,443,855 		JBrowse link
G HSPB8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A OMIM
ClinVar		 PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 More... NCBI chr11:114,522,236...114,540,186
Ensembl chr11:114,522,248...114,540,477 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 More... NCBI chr20:2,662,163...2,668,393
Ensembl chr20:2,665,737...2,668,393 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B OMIM
ClinVar		 PMID:2814495 PMID:9536098 PMID:11528513 PMID:15122254 PMID:16087758 More... NCBI chr28:10,442,530...10,443,804
Ensembl chr28:10,442,398...10,443,855 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPB3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C OMIM
ClinVar		 PMID:8972725 PMID:20142617 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 4:50,732,737...50,733,744
Ensembl chr 4:50,733,157...50,733,609 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 More... NCBI chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A OMIM
ClinVar		 PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 More... NCBI chr21:27,750,532...27,791,143
Ensembl chr21:27,749,514...27,790,881 		JBrowse link
G PNPO pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A ClinVar PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 More... NCBI chr16:68,338,847...68,360,492
Ensembl chr16:68,338,936...68,344,050 		JBrowse link
G REEP1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:20,819,318...20,924,484
Ensembl chr14:20,820,275...20,940,683 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO38 F-box protein 38 ISO ClinVar Annotator: match by term: FBXO38-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D OMIM
ClinVar		 PMID:7723957 PMID:24207122 PMID:25741868 PMID:28492532 PMID:31420593 More... NCBI chr23:51,020,119...51,079,317
Ensembl chr23:51,020,127...51,079,308 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr14:12,320,653...12,412,191
Ensembl chr14:12,320,719...12,411,855 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr14:11,962,757...12,026,045
Ensembl chr14:11,963,689...12,027,503 		JBrowse link
G LIMS1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr14:12,059,347...12,210,779
Ensembl chr14:12,059,411...12,213,064 		JBrowse link
G LOC103241211 sulfotransferase 1C4 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr14:11,860,065...11,882,111
Ensembl chr14:11,861,211...11,871,767 		JBrowse link
G RANBP2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia OMIM
ClinVar		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr14:11,346,281...11,373,754
Ensembl chr14:11,347,861...11,370,297 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr14:11,709,266...11,731,318
Ensembl chr14:11,711,120...11,732,613 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr14:11,621,851...11,638,719
Ensembl chr14:11,622,043...11,636,652 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8 OMIM
ClinVar		 PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:17879966 More... NCBI chr11:105,020,972...105,072,660 JBrowse link
autosomal dominant distal hereditary motor neuronopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WARS1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IX | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 OMIM
ClinVar		 PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409 NCBI chr24:78,296,154...78,340,683
Ensembl chr24:78,295,741...78,339,732 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr10:123,326,337...123,418,836
Ensembl chr10:123,327,102...123,400,114 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure OMIM
ClinVar		 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chr 1:5,619,138...5,655,033
Ensembl chr 1:5,619,425...5,655,737 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VRK1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 10 OMIM
ClinVar		 PMID:19646678 PMID:21543316 PMID:21920476 PMID:24126608 PMID:25356970 More... NCBI chr24:74,686,102...74,770,496
Ensembl chr24:74,686,111...74,770,874 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity OMIM
ClinVar		 PMID:10677333 PMID:12427890 PMID:22232211 PMID:38527963 NCBI chr 6:38,931,473...38,943,057
Ensembl chr 6:38,931,348...38,942,886 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,937,488...44,941,708
Ensembl chr12:44,937,923...44,944,842 		JBrowse link
G ATOSB atos homolog B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,500,473...45,512,647
Ensembl chr12:45,505,278...45,512,759 		JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,921,530...44,929,504
Ensembl chr12:44,921,665...44,928,831 		JBrowse link
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,941,951...44,944,935
Ensembl chr12:44,939,377...44,944,842 		JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,387,239...44,390,726
Ensembl chr12:44,387,995...44,389,761 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,928,212...45,930,897
Ensembl chr12:45,929,071...45,930,904 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,787,118...45,788,506
Ensembl chr12:45,787,356...45,908,711 		JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,956,596...45,959,354
Ensembl chr12:45,958,642...45,959,313 		JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,979,721...44,985,821 JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,991,633...45,041,573
Ensembl chr12:45,039,593...45,041,415 		JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,346,169...44,367,626
Ensembl chr12:44,344,395...44,367,619 		JBrowse link
G CNTFR ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:46,017,992...46,068,187
Ensembl chr12:46,030,203...46,069,944 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,865,409...44,870,074
Ensembl chr12:44,865,682...44,869,621 		JBrowse link
G DCTN3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,999,302...46,006,303
Ensembl chr12:45,999,166...46,006,883 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:46,058,280...46,155,989
Ensembl chr12:46,090,829...46,128,839 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2 ClinVar PMID:22522442 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26752306 More... NCBI chr10:105,185,987...105,193,749
Ensembl chr10:105,186,608...105,194,574 		JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,620,081...45,628,916
Ensembl chr12:45,619,281...45,628,304 		JBrowse link
G ENHO energy homeostasis associated ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:46,088,566...46,090,542
Ensembl chr12:46,089,890...46,090,117 		JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,775,909...44,787,061
Ensembl chr12:44,779,001...44,787,022 		JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,537,817...45,544,038
Ensembl chr12:45,538,303...45,543,766 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,970,655...45,974,669
Ensembl chr12:45,970,794...45,974,581 		JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,852,048...44,865,542
Ensembl chr12:44,852,203...44,868,652 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,395,343...44,422,118
Ensembl chr12:44,395,321...44,422,092 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,300,321...44,340,917
Ensembl chr12:44,282,809...44,344,311 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,790,455...44,792,571
Ensembl chr12:44,790,416...44,792,625 		JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,693,433...44,694,718
Ensembl chr12:44,693,998...44,694,303 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,959,370...45,970,563
Ensembl chr12:45,955,863...45,969,310 		JBrowse link
G LOC103219206 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,734,172...44,735,627
Ensembl chr12:44,734,504...44,735,442 		JBrowse link
G LOC103219228 protein unc-13 homolog B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,230,661...45,461,934
Ensembl chr12:45,230,659...45,461,339 		JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,847,109...44,848,263
Ensembl chr12:44,847,129...44,848,150 		JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,795,822...44,844,464
Ensembl chr12:44,793,253...44,813,671 		JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,635,910...45,661,692
Ensembl chr12:45,635,885...45,661,446 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,521,468...45,529,936
Ensembl chr12:45,521,976...45,533,729 		JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,431,807...44,517,893
Ensembl chr12:44,431,615...44,517,810 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,843,368...44,851,896
Ensembl chr12:44,848,379...44,851,942 		JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:46,007,629...46,009,320
Ensembl chr12:46,008,520...46,009,011 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,041,514...45,110,793
Ensembl chr12:45,038,683...45,056,872 		JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,952,341...44,954,118
Ensembl chr12:44,952,431...44,955,326 		JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,792,661...44,795,736
Ensembl chr12:44,793,253...44,800,474 		JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,571,060...45,575,282
Ensembl chr12:45,571,177...45,574,796 		JBrowse link
G STOML2 stomatin like 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,513,578...45,516,876
Ensembl chr12:45,513,307...45,517,110 		JBrowse link
G TESK1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,985,770...44,990,520
Ensembl chr12:44,984,687...44,990,183 		JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,870,004...44,906,686
Ensembl chr12:44,876,643...44,907,072 		JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:44,912,250...44,920,615
Ensembl chr12:44,912,223...44,919,456 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr12:45,545,139...45,560,702
Ensembl chr12:45,545,507...45,563,380 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 | ClinVar Annotator: match by term: PLEKHG5-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16728649 PMID:17564964 PMID:17576681 More... NCBI chr20:125,223,074...125,276,115
Ensembl chr20:125,244,593...125,275,676 		JBrowse link
G TNFRSF25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 ClinVar PMID:25741868 NCBI chr20:125,276,632...125,282,090
Ensembl chr20:125,277,680...125,281,995 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr10:105,312,348...105,320,869 JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22522442 PMID:23806086 More... NCBI chr10:105,185,987...105,193,749
Ensembl chr10:105,186,608...105,194,574 		JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr10:105,266,527...105,294,553
Ensembl chr10:105,265,757...105,282,384 		JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr10:105,196,508...105,216,665
Ensembl chr10:105,196,505...105,216,525 		JBrowse link
G RESP18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr10:105,230,482...105,235,907
Ensembl chr10:105,230,560...105,235,766 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 6 OMIM
ClinVar		 PMID:21618648 PMID:25741868 PMID:31872057 PMID:34193129 NCBI chr14:20,819,318...20,924,484
Ensembl chr14:20,820,275...20,940,683 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 7 | ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features OMIM
ClinVar		 PMID:25741868 PMID:33459760 PMID:33559681 PMID:37712079 NCBI chr20:130,016,802...130,023,138
Ensembl chr20:130,014,754...130,021,822 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SORD sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 8 OMIM
ClinVar		 PMID:8622605 PMID:25741868 PMID:32367058 PMID:32457452 PMID:33201363 More... NCBI chr26:38,129,236...38,173,867
Ensembl chr26:38,126,911...38,155,381 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ7 coenzyme Q7, hydroxylase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 9 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30369941 PMID:35782625 PMID:36454683 More... NCBI chr 5:17,351,429...17,362,305
Ensembl chr 5:17,351,506...17,362,916 		JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF3 growth differentiation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613031 NCBI chr11:7,727,818...7,733,514
Ensembl chr11:7,727,913...7,733,075 		JBrowse link
G LOC103231480 myosin-7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24793961 PMID:25467552 PMID:25741868 More... NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chr 8:97,055,111...97,091,980 JBrowse link
childhood spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
Kennedy's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor treatment
susceptibility		 ISO ClinVar Annotator: match by term: Bulbospinal neuronopathy X-linked recessive | ClinVar Annotator: match by term: Kennedy disease RGD
OMIM
ClinVar		 PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 More... RGD:11576229 NCBI chr  X:57,380,587...57,553,613
Ensembl chr  X:57,380,611...57,546,776 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257 		JBrowse link
Monomelic Amyotrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPP21 cAMP regulated phosphoprotein 21 ISO ClinVar Annotator: match by term: Monomelic amyotrophy ClinVar NCBI chr15:80,048,078...80,204,843
Ensembl chr15:80,089,657...80,204,314 		JBrowse link
G SLIT1 slit guidance ligand 1 ISO ClinVar Annotator: match by term: Monomelic amyotrophy ClinVar NCBI chr 9:90,166,710...90,357,983
Ensembl chr 9:90,172,578...90,237,256 		JBrowse link
neurogenic scapuloperoneal syndrome Kaeser type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type | ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic type, of Kaeser OMIM
ClinVar		 PMID:5828910 PMID:9536098 PMID:9697706 PMID:10717012 PMID:10905661 More... NCBI chr10:105,312,348...105,320,869 JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy ClinVar PMID:25741868 NCBI chr25:72,614,998...72,677,383
Ensembl chr25:72,611,475...72,677,356 		JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM
ClinVar		 PMID:12389028 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 More... NCBI chr25:72,544,942...72,616,716
Ensembl chr25:72,545,012...72,612,622 		JBrowse link
progressive muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Progressive spinal muscular atrophy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr26:40,568,320...40,657,443
Ensembl chr26:40,568,885...40,625,597 		JBrowse link
G SEC24A SEC24 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Progressive spinal muscular atrophy ClinVar PMID:25741868 NCBI chr23:37,448,344...37,501,745 JBrowse link
scapuloperoneal spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Amyotrophy, neurogenic scapuloperoneal, New England type | ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy | ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy OMIM
ClinVar		 PMID:1520078 PMID:4056805 PMID:8179305 PMID:15668982 PMID:19661060 More... NCBI chr11:105,020,972...105,072,660 JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIP4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1 | ClinVar Annotator: match by term: TRIP4-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26924529 PMID:27008887 PMID:28492532 More... NCBI chr26:19,065,934...19,133,489
Ensembl chr26:19,065,887...19,133,448 		JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCC1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2 OMIM
ClinVar		 PMID:8677029 PMID:16199547 PMID:21791690 PMID:25741868 PMID:26924529 More... NCBI chr 9:59,095,335...59,205,646
Ensembl chr 9:59,097,501...59,204,874 		JBrowse link
spinal muscular atrophy with lower extremity predominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance ClinVar PMID:29274205 PMID:33547725 PMID:35627109 NCBI chr12:103,232,602...103,281,317
Ensembl chr12:103,232,327...103,281,288 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance ClinVar PMID:23664120 PMID:25512093 PMID:25609763 PMID:25741868 PMID:26100331 More... NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
spinal muscular atrophy with lower extremity predominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant ClinVar PMID:28492532 NCBI chr12:103,232,602...103,281,317
Ensembl chr12:103,232,327...103,281,288 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:10862709 PMID:12730604 PMID:17576681 PMID:18414213 More... NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
spinal muscular atrophy with lower extremity predominant 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPN asporin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr12:102,972,652...102,999,248
Ensembl chr12:102,972,541...102,999,368 		JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant OMIM
ClinVar		 PMID:7887410 PMID:8114789 PMID:8981948 PMID:9536098 PMID:9713859 More... NCBI chr12:103,232,602...103,281,317
Ensembl chr12:103,232,327...103,281,288 		JBrowse link
G CENPP centromere protein P ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr12:102,851,498...103,121,113 JBrowse link
G ECM2 extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr12:103,010,232...103,053,472
Ensembl chr12:103,011,749...103,053,678 		JBrowse link
G IARS1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr12:102,745,155...102,819,638
Ensembl chr12:102,744,569...102,819,603 		JBrowse link
G IPPK inositol-pentakisphosphate 2-kinase ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr12:103,122,293...103,184,453
Ensembl chr12:103,123,557...103,184,174 		JBrowse link
G NOL8 nucleolar protein 8 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr12:102,823,206...102,851,484
Ensembl chr12:102,822,839...102,843,078 		JBrowse link
G OGN osteoglycin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr12:102,908,482...102,928,956
Ensembl chr12:102,908,479...102,928,827 		JBrowse link
G OMD osteomodulin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr12:102,938,402...102,948,626
Ensembl chr12:102,937,688...102,948,369 		JBrowse link
G PRSS47 Putative serine protease 47 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr12:102,720,299...102,736,257 JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr12:102,475,437...102,551,401
Ensembl chr12:102,475,415...102,551,322 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein ISO ClinVar Annotator: match by term: Gower's muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:26627873 PMID:28492532 PMID:28817800 More... NCBI chr14:36,866,379...36,902,683
Ensembl chr14:36,866,414...36,903,246 		JBrowse link
spinal muscular atrophy with lower extremity predominant 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: BICD2-related condition | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant OMIM
ClinVar		 PMID:11241493 PMID:21208200 PMID:23664116 PMID:25741868 PMID:26467025 More... NCBI chr12:103,232,602...103,281,317
Ensembl chr12:103,232,327...103,281,288 		JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy OMIM
ClinVar		 PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 More... NCBI chr 8:16,151,974...16,181,726
Ensembl chr 8:16,151,247...16,181,155 		JBrowse link
Spinal Muscular Atrophy, Facioscapulohumeral Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type ClinVar NCBI chr20:125,223,074...125,276,115
Ensembl chr20:125,244,593...125,275,676 		JBrowse link
Spinal Muscular Atrophy, Infantile, James Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHOD3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type ClinVar PMID:25741868 NCBI chr18:44,053,360...44,540,820
Ensembl chr18:44,049,837...44,540,760 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type OMIM
ClinVar		 PMID:17101916 PMID:20301420 PMID:22462675 PMID:24604904 PMID:25168514 More... NCBI chr21:27,750,532...27,791,143
Ensembl chr21:27,749,514...27,790,881 		JBrowse link
spinal muscular atrophy, Jokela type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, Jokela type | ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 PMID:25113787 More... NCBI chr19:6,882,007...6,884,176
Ensembl chr19:6,878,662...6,884,655 		JBrowse link
G CUNH22orf15 chromosome unknown C22orf15 homolog ISO ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type ClinVar PMID:28492532 NCBI chr19:6,878,973...6,882,034
Ensembl chr19:6,879,478...6,881,927 		JBrowse link
Werdnig-Hoffmann disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS54 VPS54 subunit of GARP complex ISO OMIM:253300 MouseDO NCBI chr14:43,000,960...43,127,129
Ensembl chr14:43,008,915...43,125,850 		JBrowse link
X-linked distal spinal muscular atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE OMIM
ClinVar		 PMID:10570920 PMID:11241493 PMID:14985388 PMID:16083905 PMID:16199547 More... NCBI chr  X:66,843,519...66,985,655
Ensembl chr  X:66,843,558...66,985,709 		JBrowse link
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: AMC, distal, X-linked | ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 More... NCBI chr  X:44,377,765...44,402,378
Ensembl chr  X:44,385,940...44,405,051 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:54,972,144...55,079,158
Ensembl chr  X:54,973,545...55,021,891 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      musculoskeletal system disease 7844
        neuromuscular disease 3164
          motor neuron disease 522
            spinal muscular atrophy 151
              Camptocormia 4
              Distal Hereditary Motor Neuropathy, Type II 0
              Kennedy's disease 2
              Progressive Encephalopathy with Amyotrophy and Optic Atrophy 2
              Spinal Muscular Atrophy with Mental Retardation 0
              Spinal Muscular Atrophy, Facioscapulohumeral Type 1
              Spinal Muscular Atrophy, Infantile, James Type 2
              Spinal Muscular Atrophy, Ryukyuan Type 0
              Spinal Muscular Atrophy, Segmental 0
              X-linked distal spinal muscular atrophy 3 1
              X-linked spinal muscular atrophy 2 2
              adult spinal muscular atrophy 0
              autosomal dominant adult-onset proximal spinal muscular atrophy 2
              autosomal dominant distal hereditary motor neuronopathy + 36
              autosomal recessive distal hereditary motor neuronopathy + 60
              childhood spinal muscular atrophy + 7
              neurogenic scapuloperoneal syndrome Kaeser type 1
              progressive muscular atrophy 2
              scapuloperoneal spinal muscular atrophy 1
              spinal muscular atrophy with lower extremity predominant + 13
              spinal muscular atrophy, Jokela type 2
Path 2
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      nervous system disease 13229
        peripheral nervous system disease 4272
          neuropathy 4085
            neuromuscular disease 3164
              motor neuron disease 522
                spinal muscular atrophy 151
                  Camptocormia 4
                  Distal Hereditary Motor Neuropathy, Type II 0
                  Kennedy's disease 2
                  Progressive Encephalopathy with Amyotrophy and Optic Atrophy 2
                  Spinal Muscular Atrophy with Mental Retardation 0
                  Spinal Muscular Atrophy, Facioscapulohumeral Type 1
                  Spinal Muscular Atrophy, Infantile, James Type 2
                  Spinal Muscular Atrophy, Ryukyuan Type 0
                  Spinal Muscular Atrophy, Segmental 0
                  X-linked distal spinal muscular atrophy 3 1
                  X-linked spinal muscular atrophy 2 2
                  adult spinal muscular atrophy 0
                  autosomal dominant adult-onset proximal spinal muscular atrophy 2
                  autosomal dominant distal hereditary motor neuronopathy + 36
                  autosomal recessive distal hereditary motor neuronopathy + 60
                  childhood spinal muscular atrophy + 7
                  neurogenic scapuloperoneal syndrome Kaeser type 1
                  progressive muscular atrophy 2
                  scapuloperoneal spinal muscular atrophy 1
                  spinal muscular atrophy with lower extremity predominant + 13
                  spinal muscular atrophy, Jokela type 2
paths to the root