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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: 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 chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548 		JBrowse link
G Ar androgen receptor ISO RGD PMID:10400640 RGD:1578680 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026 		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 PMID:25497877 PMID:27784775 PMID:28251916 PMID:28492532 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035 		JBrowse link
G Dpp6 dipeptidyl peptidase like 6 susceptibility ISO DNA:SNP:intron: (rs10260404) (human) RGD PMID:19332697 RGD:5687182 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307 		JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:16199547 PMID:25059916 PMID:28492532 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar Annotator: match by term: Distal spinal muscular atrophy		 ClinVar PMID:10862709 PMID:25512093 PMID:25741868 PMID:26392352 PMID:28492532 PMID:30122514 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Proximal spinal muscular atrophy ClinVar NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944 		JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741 		JBrowse link
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702 		JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17101916 PMID:17595294 PMID:17663003 PMID:19329989 PMID:24604904 PMID:25168514 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28166811 PMID:28492532 PMID:28594869 PMID:29520015 PMID:29648643 PMID:31985473 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044 		JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:increased expression:muscle: RGD PMID:22798624 RGD:9681458 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715 		JBrowse link
G Hexb hexosaminidase subunit beta ISO RGD PMID:1720305 RGD:1599424 NCBI chr 2:27,983,925...28,003,260
Ensembl chr 2:27,984,117...28,003,186 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar Annotator: match by term: Distal spinal muscular atrophy		 ClinVar PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15290238 PMID:16765827 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19158098 PMID:21353777 PMID:22157136 PMID:23566544 PMID:24033266 PMID:24388491 PMID:25326635 PMID:25439726 PMID:25568292 PMID:25741868 PMID:26467025 PMID:26922252 PMID:28065684 PMID:28397221 PMID:28492532 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142 		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 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310 		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:26497905 PMID:26659848 PMID:26912637 PMID:27105897 PMID:27105987 PMID:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574 		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 chr10:94,850,971...94,913,202 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 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:9497266 PMID:15106121 PMID:21438761 PMID:21576111 PMID:22088787 PMID:24105744 PMID:24244371 PMID:25741868 PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539 		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 chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577 		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 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815 		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		 PMID:10679938 PMID:11839954 PMID:12833158 PMID:15862279 PMID:18155522 PMID:18572081 PMID:19050931 PMID:19150990 PMID:20442745 PMID:21350916 PMID:21542063 PMID:21673580 PMID:21819082 PMID:24844453 PMID:25572663 PMID:25741868 PMID:26467025 PMID:26606804 PMID:27111068 PMID:27425821 PMID:28492532 PMID:30006696 PMID:31213135, PMID:7813012 RGD:9831153 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147 		JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 2:195,649,813...195,674,217
Ensembl chr 2:195,651,930...195,674,616 		JBrowse link
G Tll2 tolloid-like 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:25741868 NCBI chr 1:260,348,905...260,460,791
Ensembl chr 1:260,348,905...260,460,791 		JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 5:169,288,419...169,293,137
Ensembl chr 5:169,288,871...169,293,137 		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 PMID:22187434 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:2005900 PMID:25741868 PMID:26467025 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587 		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 PMID:15372378 RGD:5688230 NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647 		JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar Annotator: match by term: Spinal muscular atrophy		 ClinVar PMID:19646678 PMID:24126608 PMID:25356970 PMID:25741868 PMID:27281532 PMID:28492532 NCBI chr 6:129,835,788...129,902,839
Ensembl chr 6:129,835,919...129,902,793 		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 PMID:28492532 PMID:31213135 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147 		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 proximal spinal muscular atrophy, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491 		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: Spinal muscular atrophy, late-onset, finkel type		 OMIM
ClinVar		 PMID:15372378 PMID:16187141 PMID:16967488 PMID:17804640 PMID:18322265 PMID:18677189 PMID:19183264 PMID:20008544 PMID:20377183 PMID:20447143 PMID:20577002 PMID:21275991 PMID:21685205 PMID:21933185 PMID:22131369 PMID:22258555 PMID:22454507 PMID:22878164 PMID:23333387 PMID:23446633 PMID:23771029 PMID:23971766 PMID:24212516 PMID:24681403 PMID:25741868 PMID:26467025 PMID:26566915 PMID:27978769 PMID:28492532 NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647 		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 PMID:24336790 PMID:25497877 PMID:25741868 PMID:26467025 PMID:27549087 PMID:27784775 PMID:28251916 PMID:28492532 PMID:28832565 PMID:32581362 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035 		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:25326635 PMID:25512093 PMID:25609763 PMID:25741868 PMID:28492532 PMID:29671837 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738 		JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:17101916 PMID:22462675 PMID:25168514 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 PMID:16199547 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:22157136 PMID:23449687 PMID:23566544 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24342282 PMID:24388491 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26467025 PMID:26709713 PMID:27450922 PMID:28492532 PMID:31211173 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142 		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:25886484 PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516 		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 chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:19696032 PMID:22088787 PMID:26467025 PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539 		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 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21454511 PMID:22065612 PMID:22291064 PMID:22526352 PMID:22702953 PMID:24319099 PMID:24789864 PMID:25741868 PMID:26048687 PMID:26467025 PMID:26948711 PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902 		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 PMID:25741868 PMID:25961035 PMID:26627873 PMID:26969127 PMID:27247418 PMID:27532257 PMID:28492532 PMID:29300372 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Camptocormism ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 PMID:19752458 PMID:19815814 PMID:20227526 PMID:20803511 PMID:21856450 PMID:21880868 PMID:22647225 PMID:22727047 PMID:23808377 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27271921 PMID:28130605 PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		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 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817 		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 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO CTD Direct Evidence: marker/mechanism CTD PMID:17924536 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147 		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: Distal hereditary motor neuronopathy ClinVar NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy ClinVar NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049 		JBrowse link
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy ClinVar NCBI chr 2:45,517,788...45,518,502
Ensembl chr 2:45,517,789...45,518,502 		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: Distal hereditary motor neuronopathy type 2A
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA
ClinVar Annotator: match by OMIM:158590		 OMIM
ClinVar		 PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28166811 PMID:28251916 PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013 		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: Distal hereditary motor neuronopathy type 2C
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC		 OMIM
ClinVar		 PMID:20142617 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 2:45,517,788...45,518,502
Ensembl chr 2:45,517,789...45,518,502 		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: Distal hereditary motor neuronopathy 2D
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT		 OMIM
ClinVar		 PMID:7723957 PMID:9536098 PMID:17576681 PMID:24207122 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31420593 NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741 		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 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 ClinVar PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19226263 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23553728 PMID:23963299 PMID:23989774 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25588603 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27144933 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040 		JBrowse link
G Gars glycyl-tRNA synthetase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5		 CTD
ClinVar		 PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17595294 PMID:19329989 PMID:25168514 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28166811 PMID:28492532 PMID:28594869 PMID:29520015 PMID:29648643 PMID:31985473 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044 		JBrowse link
G Pnpo pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 ClinVar PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 PMID:25762494 PMID:28492532 NCBI chr10:84,874,926...84,881,190
Ensembl chr10:84,874,927...84,881,190 		JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319 		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 Gars glycyl-tRNA synthetase ISO OMIM NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044 		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: Distal hereditary motor neuronopathy type 5B
ClinVar Annotator: match by OMIM:614751		 OMIM
ClinVar		 PMID:16826527 PMID:18321925 PMID:19034539 PMID:20718791 PMID:22703882 PMID:25741868 PMID:28492532 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319 		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 VC OMIM
ClinVar		 PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040 		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 viia ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,832,960...27,879,764
Ensembl chr20:27,832,932...27,879,759 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,895,981...28,004,767
Ensembl chr20:27,954,433...28,002,082 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
ClinVar Annotator: match by OMIM:158580		 OMIM
ClinVar		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815 		JBrowse link
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,152,588...4,168,355
Ensembl chr 9:4,152,589...4,168,221 		JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,931,038...4,978,847
Ensembl chr 9:4,930,818...4,978,892 		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: Distal hereditary motor neuronopathy type 7B
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB		 OMIM
ClinVar		 PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16505168 PMID:17576681 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:24627108 PMID:25025039 PMID:25299611 PMID:25382069 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28166811 PMID:28430856 PMID:28492532 PMID:29525180 PMID:32028661 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573 		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 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044 		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 PMID:26955893 PMID:28492532 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025 PMID:28492532 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574 		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 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309 		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:28166811 PMID:28492532 PMID:29213238 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577 		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 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25900305 PMID:26110311 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902 		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: Distal spinal muscular atrophy, congenital nonprogressive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:22065612 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22675077 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27549087 PMID:27751652 PMID:28166811 PMID:28492532 PMID:28898540 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902 		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 6:132,771,026...132,802,262
Ensembl chr 6:132,771,021...132,802,210 		JBrowse link
distal hereditary motor neuropathy 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: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
ClinVar Annotator: match by term: HSPB1-Related Disorder
ClinVar Annotator: match by OMIM:608634		 OMIM
ClinVar		 PMID:9536098 PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16215937 PMID:16368711 PMID:17576681 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18832141 PMID:20178975 PMID:20660910 PMID:21149811 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22734906 PMID:23643870 PMID:23963299 PMID:25741868 PMID:25965061 PMID:26467025 PMID:26986878 PMID:27816334 PMID:28144995 PMID:28166811 PMID:28492532 PMID:28595321 PMID:28702508 PMID:29381233 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049 		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: Spinal muscular atrophy, distal, autosomal recessive, 1
ClinVar Annotator: match by OMIM:604320		 ClinVar
OMIM		 PMID:234316 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15248100 PMID:15269181 PMID:15290238 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:21353777 PMID:21902652 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25280635 PMID:25326635 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26709713 PMID:26922252 PMID:27450922 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28492532 PMID:28902413 PMID:29858556 PMID:30598237 PMID:30863264 PMID:31211173 PMID:32488064, PMID:11528396 RGD:737748 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142 		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: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,998,209...59,001,779
Ensembl chr 5:58,995,249...59,001,800 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,107,182...58,114,632
Ensembl chr 5:58,107,707...58,113,553 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,452,348...59,454,235
Ensembl chr 5:59,452,348...59,454,233 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,943,021...58,950,373
Ensembl chr 5:58,943,027...58,950,373 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,490,689...59,509,139
Ensembl chr 5:59,491,096...59,509,138 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,041,114...58,078,687
Ensembl chr 5:58,041,146...58,078,545 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,063,532...59,068,196
Ensembl chr 5:59,063,531...59,068,188 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,098,706...58,106,706
Ensembl chr 5:58,098,706...58,106,706 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,018,039...58,019,836
Ensembl chr 5:58,018,039...58,019,836 		JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,883,064...58,884,136 JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125 		JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,477,894...58,484,900
Ensembl chr 5:58,477,894...58,484,900 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,156,079...59,165,440
Ensembl chr 5:59,156,071...59,165,160 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,415,415...59,446,732
Ensembl chr 5:59,416,076...59,446,647 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,150,344...59,152,599
Ensembl chr 5:59,150,345...59,152,599 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,228,138...59,228,915
Ensembl chr 5:59,228,199...59,228,519 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072 		JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 Ensembl chr 5:59,084,626...59,085,676 JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255 		JBrowse link
G Olr834 olfactory receptor 834 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,207,120...59,208,058
Ensembl chr 5:59,207,120...59,208,058 		JBrowse link
G Olr840 olfactory receptor 840 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,326,803...59,327,762
Ensembl chr 5:59,326,803...59,327,762 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,348,568...59,415,169
Ensembl chr 5:59,348,639...59,415,135 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,080,290...59,088,777
Ensembl chr 5:59,080,765...59,088,523 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,096,037...58,097,577
Ensembl chr 5:58,096,213...58,097,577 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar
OMIM		 PMID:16199547 PMID:24088041 PMID:25741868 PMID:26078401 PMID:26467025 PMID:26633545 PMID:27402882 PMID:27629094 PMID:28492532 PMID:28708278 PMID:29115704 PMID:31511340 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,985,912...58,987,538
Ensembl chr 5:58,985,829...58,987,760 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,937,615...58,943,358
Ensembl chr 5:58,937,615...58,943,358 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,165,552...59,193,772
Ensembl chr 5:59,178,846...59,191,975 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,505,449...58,714,396
Ensembl chr 5:58,505,500...58,715,576 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953 		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 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 OMIM:611067		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16728649 PMID:17564964 PMID:17576681 PMID:23777631 PMID:23844677 PMID:25741868 PMID:26392352 PMID:26752306 PMID:28160950 PMID:28492532 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309 		JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 ClinVar NCBI chr 5:169,288,419...169,293,137
Ensembl chr 5:169,288,871...169,293,137 		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: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5
ClinVar Annotator: match by OMIM:614881		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22522442 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26257172 PMID:27083531 PMID:27449489 PMID:28492532 NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,505,529...82,514,399
Ensembl chr 9:82,505,530...82,514,399 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,446,626...82,462,314
Ensembl chr 9:82,446,633...82,461,903 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,470,794...82,477,136
Ensembl chr 9:82,470,759...82,477,181 		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 PMID:10369311 PMID:11313744 PMID:11704667 PMID:12515823 PMID:14715275 PMID:15580564 PMID:17475491 PMID:17895963 PMID:18492800 PMID:19050931 PMID:20057317 PMID:21118896 PMID:21209906 PMID:21673580 PMID:21920940 PMID:22750651 PMID:22813737 PMID:22975760 PMID:23112048 PMID:24498607 PMID:24844453 PMID:25144193 PMID:25716911 PMID:25741868 PMID:26467025 PMID:27425821 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147 		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 ClinVar
OMIM		 PMID:9158159 PMID:9590291 PMID:9668169 PMID:9818944 PMID:9837824 PMID:10205265 PMID:10339583 PMID:11313744 PMID:11704667 PMID:12515823 PMID:14715275 PMID:15580564 PMID:17475491 PMID:17635841 PMID:17895963 PMID:18492800 PMID:19050931 PMID:20057317 PMID:21082361 PMID:21118896 PMID:21209906 PMID:21673580 PMID:21920940 PMID:22323744 PMID:22813737 PMID:23022347 PMID:23073312 PMID:23112048 PMID:24844453 PMID:25144193 PMID:25716911 PMID:25741868 PMID:26467025 PMID:27425821 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147 		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		 PMID:25741868, PMID:2062380, PMID:8469342, PMID:26942099 RGD:734599, RGD:11576241, RGD:11576229 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238 		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 PMID:12609507 PMID:14326018 PMID:14724127 PMID:15477095 PMID:15800015 PMID:16217025 PMID:16519886 PMID:16828798 PMID:16865695 PMID:17105773 PMID:17221859 PMID:17325244 PMID:17439987 PMID:17626518 PMID:18414213 PMID:18539904 PMID:19181099 PMID:20448486 PMID:20474083 PMID:20718792 PMID:20981092 PMID:21262226 PMID:21842594 PMID:22215463 PMID:22337857 PMID:23143191 PMID:23168288 PMID:23299917 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:24503780 PMID:25214167 PMID:25394388 PMID:25617006 PMID:25736269 PMID:25741868 PMID:25928149 PMID:26272908 PMID:26467025 PMID:27393313 PMID:27532257 PMID:27896284 PMID:27930701 PMID:28166811 PMID:28416588 PMID:28492532 PMID:29926427 PMID:32093415 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294 		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
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy		 ClinVar
OMIM		 PMID:25741868 PMID:27666369 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027 		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 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408 		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: Scapuloperoneal spinal muscular atrophy
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 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:22065612 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24319099 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28166811 PMID:28492532 PMID:28898540 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902 		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: Spinal muscular atrophy with congenital bone fractures 1		 ClinVar
OMIM		 PMID:25741868 PMID:26924529 NCBI chr 8:71,369,121...71,533,281
Ensembl chr 8:71,371,370...71,533,459 		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:21791690 PMID:25741868 PMID:26924529 PMID:28218388 PMID:28492532 PMID:28749478 PMID:30327447 PMID:31680123 PMID:31880396 NCBI chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893 		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, lower extremity predominant 1, autosomal dominant OMIM
ClinVar		 PMID:10862709 PMID:12730604 PMID:20697106 PMID:21102439 PMID:21820100 PMID:22459677 PMID:22847149 PMID:23603762 PMID:23664119 PMID:25326635 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25609763 PMID:25741868 PMID:26100331 PMID:26846447 PMID:27549087 PMID:28492532 PMID:28554554 PMID:28602352 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		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 Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2, AD
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant
ClinVar Annotator: match by OMIM:615290		 OMIM
ClinVar		 PMID:2778477 PMID:8114789 PMID:9536098 PMID:9713859 PMID:17576681 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:24336790 PMID:24482476 PMID:25326635 PMID:25497877 PMID:25741868 PMID:25802885 PMID:26467025 PMID:26752647 PMID:26998597 PMID:27549087 PMID:27751653 PMID:27784775 PMID:28166811 PMID:28251916 PMID:28492532 PMID:28635954 PMID:28832565 PMID:29273277 PMID:30373780 PMID:31692161 PMID:32581362 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035 		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 4:118,207,845...118,238,246
Ensembl chr 4:118,207,862...118,235,218 		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
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant		 ClinVar
OMIM		 PMID:25741868 PMID:27751653 PMID:28635954 PMID:30054298 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035 		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: Jankovic Rivera syndrome
ClinVar Annotator: match by OMIM:159950		 OMIM
ClinVar		 PMID:22703880 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26526000 PMID:28492532 PMID:29169047 PMID:29358611 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836 		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 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309 		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 Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE		 OMIM
ClinVar		 PMID:17101916 PMID:22462675 PMID:24604904 PMID:25168514 PMID:25741868 PMID:28492532 PMID:31985473 PMID:32181591 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044 		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
OMIM		 PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 PMID:25113787 PMID:25155093 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25428574 PMID:25576308 PMID:25681414 PMID:25700176 PMID:25726362 PMID:25741868 PMID:25833818 PMID:26152333 PMID:26224640 PMID:27810918 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29789341 PMID:30014597 NCBI chr20:13,665,046...13,666,845
Ensembl chr20:13,665,031...13,667,333 		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 chr20:13,661,603...13,665,073
Ensembl chr20:13,662,867...13,664,091 		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 ClinVar
OMIM		 PMID:7813012 PMID:8922999 PMID:9147655 PMID:9158159 PMID:9590291 PMID:10205265 PMID:10500148 PMID:10556301 PMID:10679938 PMID:10732817 PMID:11078511 PMID:11313744 PMID:11572858 PMID:12374765 PMID:12833158 PMID:14715275 PMID:14749338 PMID:15249625 PMID:15580564 PMID:15975577 PMID:17049859 PMID:17635841 PMID:18155522 PMID:19050931 PMID:21329463 PMID:21584334 PMID:21673580 PMID:23136128 PMID:23615451 PMID:25144193 PMID:25741868 PMID:25844556 PMID:26467025 PMID:26509018 PMID:26606804 PMID:27425821 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147 		JBrowse link
G Vps54 VPS54 subunit of GARP complex ISS OMIM:253300 MouseDO NCBI chr14:106,153,407...106,207,715
Ensembl chr14:106,153,575...106,207,658 		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: Distal spinal muscular atrophy, X-linked 3
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		 PMID:10570920 PMID:11241493 PMID:14985388 PMID:18414213 PMID:19153371 PMID:20045993 PMID:20170900 PMID:22210628 PMID:23281160 PMID:24033266 PMID:25741868 PMID:28119449 PMID:28492532, PMID:27293072, PMID:20170900 RGD:11340198, RGD:11252181 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644 		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: Spinal muscular atrophy, X-linked 2
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, distal, X-linked
ClinVar Annotator: match by OMIM:301830		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18179898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33108101 NCBI chr  X:1,723,135...1,745,147
Ensembl chr  X:1,723,174...1,741,701 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:64,887,978...64,908,682
Ensembl chr  X:64,887,978...64,908,682 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      musculoskeletal system disease 6400
        neuromuscular disease 1829
          motor neuron disease 398
            spinal muscular atrophy 127
              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 + 57
              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 + 4
Path 2
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  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        peripheral nervous system disease 2516
          neuropathy 2316
            neuromuscular disease 1829
              motor neuron disease 398
                spinal muscular atrophy 127
                  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 + 57
                  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 + 4
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