Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: GARD:7674;   ICD10CM:G12.9;   ICD9CM:335.1;   NCI:C85075
For additional species annotation, visit the Alliance of Genome Resources.



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 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
JBrowse link
G Ar androgen receptor ISO RGD PMID:10400640 RGD:1578680 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
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 chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 susceptibility ISO DNA:SNP:intron: (rs10260404) (human) RGD PMID:19332697 RGD:5687182 NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:16199547 PMID:25059916 PMID:28492532 NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615
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 chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 2:164,740,547...164,762,754
Ensembl chr 2:164,729,749...164,762,745
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Proximal spinal muscular atrophy ClinVar NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961
JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17101916 More... NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:increased expression:muscle: RGD PMID:22798624 RGD:9681458 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hexb hexosaminidase subunit beta ISO RGD PMID:1720305 RGD:1599424 NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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:15269181 PMID:15290238 More... NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
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 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
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 chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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 chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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:28492532 NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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:9497266 PMID:15106121 PMID:21438761 PMID:21576111 PMID:22088787 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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:27068304 PMID:28492532 NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Spinal muscular atrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10679938 PMID:11839954 PMID:12833158 PMID:15862279 PMID:18155522 More... RGD:9831153 NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
G Sv2a synaptic vesicle glycoprotein 2a ISO protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr 2:183,741,455...183,757,290
Ensembl chr 2:183,741,547...183,756,927
JBrowse link
G Sv2b synaptic vesicle glycoprotein 2b ISO protein:decreased expression:multiple (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr 1:128,978,471...129,152,479
Ensembl chr 1:128,978,473...129,152,479
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 2:27,232,933...27,428,479
Ensembl chr 2:27,232,933...27,428,477
JBrowse link
G Syt2 synaptotagmin 2 ISO protein:decreased expression:multiple (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859
JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:30503856 NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755
JBrowse link
G Tll2 tolloid-like 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:25741868 NCBI chr 1:239,916,017...240,027,916
Ensembl chr 1:239,915,508...240,028,120
JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 5:162,621,669...162,626,341
Ensembl chr 5:162,622,075...162,626,341
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal spinal muscular atrophy
CTD
ClinVar
PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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 chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
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
ClinVar
RGD
PMID:15372378 RGD:5688230 NCBI chr 3:162,536,090...162,578,738
Ensembl chr 3:162,535,905...162,573,763
JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436
JBrowse link
adult spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Spinal muscular atrophy, type IV OMIM
ClinVar
PMID:21542063 PMID:24844453 PMID:25741868 PMID:26467025 PMID:27425821 More... NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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: Adult-onset proximal spinal muscular atrophy, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant | 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 3:162,536,090...162,578,738
Ensembl chr 3:162,535,905...162,573,763
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: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 More... NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:23664120 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:17101916 PMID:20301420 PMID:22462675 PMID:25168514 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:2545169 PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 More... NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:18585512 PMID:18926329 PMID:25741868 PMID:25886484 PMID:28152038 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:26659848 PMID:28492532 NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:19696032 PMID:22088787 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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 PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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 chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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 chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO CTD Direct Evidence: marker/mechanism CTD PMID:17924536 NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
JBrowse link
distal hereditary motor neuronopathy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor ClinVar PMID:28492532 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor ClinVar NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor ClinVar NCBI chr 2:45,295,285...45,295,999
Ensembl chr 2:45,295,053...45,296,145
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
distal hereditary motor neuronopathy type 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:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961
JBrowse link
distal hereditary motor neuronopathy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb8 heat shock protein family B (small) member 8 ISO 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 chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185
JBrowse link
distal hereditary motor neuronopathy type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:9536098 PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 More... NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
distal hereditary motor neuronopathy type 2C 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:20142617 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 2:45,295,285...45,295,999
Ensembl chr 2:45,295,053...45,296,145
JBrowse link
distal hereditary motor neuronopathy type 2D 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: Neuronopathy, distal hereditary motor, type 2D OMIM
ClinVar
PMID:7723957 PMID:9536098 PMID:17576681 PMID:24207122 PMID:25741868 More... NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961
JBrowse link
distal hereditary motor neuronopathy type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gars1 glycyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
JBrowse link
distal hereditary motor neuronopathy type 5A 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: HMN 5A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A ClinVar PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 More... NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO 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 chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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 chr10:81,924,584...81,930,844
Ensembl chr10:81,924,569...81,930,871
JBrowse link
distal hereditary motor neuronopathy type 5B 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: Neuronopathy, distal hereditary motor, type 5B OMIM
ClinVar
PMID:16826527 PMID:18321925 PMID:19034539 PMID:20718791 PMID:22703882 More... NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
JBrowse link
Distal Hereditary Motor Neuronopathy Type 5C 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: Neuronopathy, distal hereditary motor, type 5C | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, TYPE 5C OMIM
ClinVar
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 More... NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
distal hereditary motor neuronopathy type 7A 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 chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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 chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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 chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A OMIM
ClinVar
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
JBrowse link
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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 chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
JBrowse link
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease | ClinVar Annotator: match by term: HMN VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B OMIM
ClinVar
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16505168 More... NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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 chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025 PMID:28492532 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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 chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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:28166811 PMID:28492532 PMID:29213238 NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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 chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
distal hereditary motor neuronopathy type 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:19661060 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
distal hereditary motor neuronopathy type 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: Neuronopathy, distal hereditary motor, type 9 OMIM
ClinVar
PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409 NCBI chr 6:127,776,088...127,807,273
Ensembl chr 6:127,776,090...127,807,269
JBrowse link
distal spinal muscular atrophy 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 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure
ClinVar
OMIM
RGD
PMID:234316 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 More... RGD:737748 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
distal spinal muscular atrophy 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 chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:56,890,042...56,895,888
Ensembl chr 5:56,890,042...56,895,888
JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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 chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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 chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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 chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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 chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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 chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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 chr 5:56,823,448...56,861,075
Ensembl chr 5:56,823,965...56,841,392
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 chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390
JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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 chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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 chr 5:57,176,840...57,185,492
Ensembl chr 5:57,176,845...57,185,490
JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,065,739...57,071,880
Ensembl chr 5:57,065,747...57,071,738
JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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 chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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 chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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 chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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 chr 5:58,170,417...58,200,947
Ensembl chr 5:58,170,425...58,202,272
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 chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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 chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
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 chr 5:57,982,409...57,983,186
Ensembl chr 5:57,982,470...57,982,790
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,199,931...57,203,964
Ensembl chr 5:57,200,000...57,204,070
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
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 chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Olr834 olfactory receptor 834 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
JBrowse link
G Olr840 olfactory receptor 840 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
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 chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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 chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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 chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502
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 chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
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 chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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 chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 OMIM
ClinVar
PMID:16199547 PMID:21842496 PMID:24088041 PMID:25261976 PMID:25704016 More... NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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 chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
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 chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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 chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
distal spinal muscular atrophy type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset ClinVar PMID:17564964 PMID:23777631 PMID:28492532 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset | ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16728649 PMID:17564964 PMID:17576681 More... NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset ClinVar PMID:17564964 PMID:23777631 PMID:28492532 NCBI chr 5:162,621,669...162,626,341
Ensembl chr 5:162,622,075...162,626,341
JBrowse link
distal spinal muscular atrophy type 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: Young adult-onset distal hereditary motor neuropathy ClinVar PMID:28492532 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22522442 PMID:23806086 More... NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy ClinVar PMID:28492532 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy ClinVar PMID:28492532 NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
JBrowse link
intermediate spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Spinal muscular atrophy, type II OMIM
ClinVar
PMID:9158159 PMID:9590291 PMID:9818944 PMID:9837824 PMID:10205265 More... NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
JBrowse link
juvenile spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Kugelberg-Welander disease OMIM
ClinVar
PMID:9158159 PMID:9590291 PMID:9668169 PMID:9818944 PMID:9837824 More... NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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 ISO DNA:mutation,repeats:cds:
ClinVar Annotator: match by term: Kennedy disease
DNA:repeats:exon
ClinVar
OMIM
RGD
PMID:25741868 PMID:2062380 PMID:8469342 PMID:26942099 RGD:734599, RGD:11576241, RGD:11576229 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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 OMIM
ClinVar
PMID:5828910 PMID:10430757 PMID:10717012 PMID:10905661 PMID:11728149 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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 Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM
ClinVar
PMID:25741868 PMID:27666369 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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 chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1520078 PMID:4056805 PMID:8179305 PMID:15668982 PMID:19661060 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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 OMIM
ClinVar
PMID:25741868 PMID:26924529 PMID:28492532 NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774
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:16199547 PMID:21791690 PMID:25741868 PMID:26924529 PMID:28218388 More... NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
JBrowse link
spinal muscular atrophy with lower extremity predominance 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 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 chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
spinal muscular atrophy with lower extremity predominance 1 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 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 chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
spinal muscular atrophy with lower extremity predominance 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 chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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:2778477 PMID:8114789 PMID:9536098 PMID:9713859 PMID:17576681 More... NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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 chr17:15,013,869...15,189,312
Ensembl chr17:15,014,058...15,189,304
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 chr17:15,120,194...15,152,536
Ensembl chr17:15,120,196...15,152,516
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 chr17:14,940,919...14,987,277
Ensembl chr17:14,940,924...14,987,237
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 chr17:15,190,191...15,235,203
Ensembl chr17:15,190,265...15,229,541
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 chr17:14,990,394...15,013,784
Ensembl chr17:14,990,417...15,013,848
JBrowse link
G Ogn osteoglycin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,032,069...15,052,626
Ensembl chr17:15,032,069...15,052,739
JBrowse link
G Omd osteomodulin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,060,217...15,068,441
Ensembl chr17:15,060,217...15,068,441
JBrowse link
G Prss47 serine protease 47 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:139,835...154,263
Ensembl chr17:140,603...154,261
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 chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
JBrowse link
G Tia1 TIA1 cytotoxic granule-associated RNA binding protein ISO ClinVar Annotator: match by term: Gower's muscular dystrophy ClinVar PMID:28492532 PMID:28817800 PMID:31996268 NCBI chr 4:118,852,765...118,883,252
Ensembl chr 4:118,852,837...118,880,586
JBrowse link
spinal muscular atrophy with lower extremity predominante 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: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:27751653 PMID:28635954 PMID:30054298 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:missense mutation: :m.14459G>A (p.A72V) (human) RGD PMID:8016139 RGD:8657128 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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 OMIM
ClinVar
PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 PMID:25326635 More... NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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 chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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 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 chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 PMID:25113787 More... NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
JBrowse link
G RGD1564162 similar to Homo sapiens fetal lung specific expression unknown ISO ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type ClinVar PMID:28492532 NCBI chr20:12,721,738...12,725,864
Ensembl chr20:12,723,160...12,726,059
JBrowse link
Werdnig-Hoffmann disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Werdnig-Hoffmann disease OMIM
ClinVar
PMID:7813012 PMID:8922999 PMID:9147655 PMID:9158159 PMID:9590291 More... NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
JBrowse link
G Vps54 VPS54 subunit of GARP complex ISS OMIM:253300 MouseDO NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857
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: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE
knock in;DNA:missense mutation:cds:p.T985I (mouse)
DNA:missense mutations:cds:p.P1386S, p.T994I (human)
OMIM
ClinVar
RGD
PMID:10570920 PMID:11241493 PMID:14985388 PMID:16083905 PMID:18414213 More... RGD:11340198, RGD:11252181 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
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: Infantile-onset X-linked spinal muscular atrophy OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18179898 PMID:25741868 PMID:26467025 More... NCBI chr  X:1,508,700...1,530,677
Ensembl chr  X:1,508,666...1,530,636
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      musculoskeletal system disease 7137
        neuromuscular disease 2185
          motor neuron disease 490
            spinal muscular atrophy 143
              Camptocormia 3
              Distal Hereditary Motor Neuropathy, Type II 0
              Kennedy's disease 2
              Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
              Spinal Muscular Atrophy with Mental Retardation 0
              Spinal Muscular Atrophy, Facioscapulohumeral Type 1
              Spinal Muscular Atrophy, Infantile, James Type 1
              Spinal Muscular Atrophy, Jokela 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 1
              anterior horn cell disease 0
              autosomal dominant adult-onset proximal spinal muscular atrophy 2
              autosomal dominant distal hereditary motor neuronopathy + 32
              autosomal recessive distal hereditary motor neuronopathy + 58
              childhood spinal muscular atrophy + 6
              neurogenic scapuloperoneal syndrome Kaeser type 1
              progressive muscular atrophy 1
              scapuloperoneal spinal muscular atrophy 1
              spinal muscular atrophy with lower extremity predominance + 14
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              motor neuron disease 490
                spinal muscular atrophy 143
                  Camptocormia 3
                  Distal Hereditary Motor Neuropathy, Type II 0
                  Kennedy's disease 2
                  Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
                  Spinal Muscular Atrophy with Mental Retardation 0
                  Spinal Muscular Atrophy, Facioscapulohumeral Type 1
                  Spinal Muscular Atrophy, Infantile, James Type 1
                  Spinal Muscular Atrophy, Jokela 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 1
                  anterior horn cell disease 0
                  autosomal dominant adult-onset proximal spinal muscular atrophy 2
                  autosomal dominant distal hereditary motor neuronopathy + 32
                  autosomal recessive distal hereditary motor neuronopathy + 58
                  childhood spinal muscular atrophy + 6
                  neurogenic scapuloperoneal syndrome Kaeser type 1
                  progressive muscular atrophy 1
                  scapuloperoneal spinal muscular atrophy 1
                  spinal muscular atrophy with lower extremity predominance + 14
paths to the root