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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:spinal muscular atrophy
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Accession:DOID:12377 term browser browse the term
Definition:A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. (DO)
Synonyms:exact_synonym: adult onset spinal muscular atrophy;   bulbospinal neuronopathies;   bulbospinal neuronopathy;   distal spinal muscular atrophy;   hereditary motor neuronopathies;   hereditary motor neuronopathy;   myelopathic muscular atrophy;   oculopharyngeal spinal muscular atrophy;   progressive myelopathic muscular atrophy;   progressive proximal myelopathic muscular atrophy;   spinal amyotrophies;   spinal amyotrophy
 narrow_synonym: proximal spinal muscular atrophy;   spinal muscular atrophy, dominant
 primary_id: MESH:D009134
 xref: EFO:0003823;   EFO:0008525;   GARD:7674;   ICD10CM:G12.9;   ICD9CM:335.1;   NCI:C85075
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 6:13,298,336...13,321,423
Ensembl chr 6:13,298,330...13,321,383 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839 		JBrowse link
G AR androgen receptor ISO RGD PMID:10400640 RGD:1578680 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		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 chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 3:68,642,562...68,673,605
Ensembl chr 3:68,643,247...68,673,604 		JBrowse link
G DPP6 dipeptidyl peptidase like 6 susceptibility ISO DNA:SNP:intron: (rs10260404) (human) RGD PMID:19332697 RGD:5687182 NCBI chr18:3,148,479...3,905,845
Ensembl chr18:3,148,483...4,054,118 		JBrowse link
G DST dystonin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:16199547 PMID:25059916 PMID:28492532 NCBI chr 7:28,812,423...29,300,149
Ensembl chr 7:28,812,252...29,300,152 		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
G ETFDH electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 8:47,608,499...47,655,889
Ensembl chr 8:47,608,772...47,657,436 		JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Proximal spinal muscular atrophy ClinVar NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198 		JBrowse link
G FBXO38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 2:149,674,300...149,722,875
Ensembl chr 2:149,674,448...149,722,865 		JBrowse link
G FUS FUS RNA binding protein ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 3:17,314,936...17,326,663
Ensembl chr 3:17,314,332...17,326,637 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy		 ClinVar PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17035524 More... NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		JBrowse link
G HDAC4 histone deacetylase 4 ISO mRNA:increased expression:muscle: RGD PMID:22798624 RGD:9681458 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301 		JBrowse link
G HEXB hexosaminidase subunit beta ISO DNA,protein:point_mutations:CDS:compound heterozygosity for A619G/I207V and A1367C/Y456S RGD PMID:1720305 RGD:1599424 NCBI chr 2:83,745,263...83,784,762
Ensembl chr 2:83,744,627...83,784,759 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704 		JBrowse link
G HSPB3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25741868 NCBI chr16:33,716,458...33,717,402
Ensembl chr16:33,716,626...33,719,018 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:14506069 PMID:14681881 PMID:15108294 PMID:15290238 PMID:16199547 More... NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525 		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 chr17:51,032,163...51,152,566
Ensembl chr17:51,039,987...51,142,644 		JBrowse link
G LITAF lipopolysaccharide induced TNF factor ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 3:31,482,605...31,576,211
Ensembl chr 3:31,482,353...31,579,082 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,752,374...22,785,501 		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 chr14:47,755,264...47,800,432
Ensembl chr14:47,755,267...47,799,628 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		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 chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838 		JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:58,679,773...58,734,195
Ensembl chr12:58,679,775...58,707,925 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 6:48,675,230...48,691,760
Ensembl chr 6:48,675,418...48,685,851 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:2005900 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy ClinVar PMID:9467005 PMID:9497266 PMID:15106121 PMID:21438761 PMID:21494555 More... NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:16199547 PMID:20220177 PMID:25614874 PMID:25741868 PMID:27068304 More... NCBI chr 2:150,183,480...150,247,747
Ensembl chr 2:150,183,485...150,247,637 		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 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:7813012 PMID:9536098 PMID:9590291 PMID:10205265 PMID:10500148 More... NCBI chr16:47,738,776...47,777,381 JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy ClinVar PMID:11222789 PMID:18200586 PMID:18799786 PMID:21623769 PMID:22554690 More... NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25741868 PMID:28492532 PMID:30548380 PMID:31332438 PMID:32811770 More... NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256 		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 4:99,138,319...99,153,153
Ensembl chr 4:99,138,342...99,153,149 		JBrowse link
G SV2B synaptic vesicle glycoprotein 2B ISO protein:decreased expression:multiple (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr 7:87,564,380...87,767,247
Ensembl chr 7:87,568,026...87,766,335 		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 2:84,996,697...85,235,827
Ensembl chr 2:84,996,716...85,236,130 		JBrowse link
G SYT2 synaptotagmin 2 ISO protein:decreased expression:multiple (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr10:24,638,645...24,727,198
Ensembl chr10:24,638,704...24,669,846 		JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:30503856 NCBI chr 4:97,415,891...97,438,262
Ensembl chr 4:97,415,914...97,438,691 		JBrowse link
G TLL2 tolloid like 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:25741868 NCBI chr14:107,812,938...107,961,192
Ensembl chr14:107,812,945...107,961,155 		JBrowse link
G TNFRSF25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 6:67,316,818...67,321,442
Ensembl chr 6:67,316,825...67,321,442 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 More... NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578 		JBrowse link
G VAPB VAMP associated protein B and C onset ISO DNA:missense mutation:cds:p.P56S (human)
ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant		 RGD
ClinVar		 PMID:15372378 RGD:5688230 NCBI chr17:58,594,749...58,644,925
Ensembl chr17:58,594,749...58,644,914 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:18414213 PMID:25741868 PMID:27281532 PMID:28492532 PMID:31090908 More... NCBI chr 7:117,942,929...118,025,991
Ensembl chr 7:117,942,973...118,028,923 		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:9536098 PMID:17576681 PMID:21542063 PMID:24844453 PMID:25741868 More... NCBI chr16:47,738,776...47,777,381 JBrowse link
autosomal dominant adult-onset proximal spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798 		JBrowse link
G VAPB VAMP associated protein B and C ISO ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: FINKEL LATE-ADULT TYPE SMA | ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type OMIM
ClinVar		 PMID:15372378 PMID:16187141 PMID:16967488 PMID:17804640 PMID:18322265 More... NCBI chr17:58,594,749...58,644,925
Ensembl chr17:58,594,749...58,644,914 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 More... NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:23664120 More...
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar NCBI chr 1:75,694,151...75,847,021
Ensembl chr 1:75,694,151...75,847,528 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:17101916 PMID:20301420 PMID:22462675 PMID:25168514 NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:2545169 PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 More... NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:18585512 PMID:18926329 PMID:25741868 PMID:25886484 PMID:28152038 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:26659848 PMID:28492532 PMID:31475037 NCBI chr14:47,755,264...47,800,432
Ensembl chr14:47,755,267...47,799,628 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:19696032 PMID:22088787 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 More... NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1 ClinVar PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMILIN1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: EMILIN1-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 10 OMIM
ClinVar		 PMID:25741868 PMID:26462740 PMID:28492532 PMID:31978608 PMID:36351433 NCBI chr 3:112,031,910...112,039,928
Ensembl chr 3:112,031,917...112,046,429 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 11 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420 More... NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B ClinVar PMID:24002164 PMID:28492532 NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		JBrowse link
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: DHMN VB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B OMIM
ClinVar		 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:20718791 More... NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VC OMIM
ClinVar		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:12362029 PMID:14557463 More... NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B ClinVar
OMIM		 PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chr 3:68,642,562...68,673,605
Ensembl chr 3:68,643,247...68,673,604 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		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 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:7693129 PMID:20571287 PMID:25694466 PMID:28492532 NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		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 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838 		JBrowse link
G SCN11A sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970 PMID:25741868 PMID:28492532 NCBI chr13:23,602,378...23,692,281
Ensembl chr13:23,602,977...23,692,220 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025 PMID:28492532 NCBI chr 2:150,183,480...150,247,747
Ensembl chr 2:150,183,485...150,247,637 		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 chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15 OMIM
ClinVar		 PMID:37907725 NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,993 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A		 ClinVar PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 More... NCBI chr 2:149,674,300...149,722,875
Ensembl chr 2:149,674,448...149,722,865 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25220807 More... NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704 		JBrowse link
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 chr14:33,626,125...33,639,824
Ensembl chr14:33,626,120...33,640,792 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 More... NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B OMIM
ClinVar		 PMID:2814495 PMID:9536098 PMID:11528513 PMID:15122254 PMID:16087758 More... NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPB3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C OMIM
ClinVar		 PMID:8972725 PMID:20142617 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr16:33,716,458...33,717,402
Ensembl chr16:33,716,626...33,719,018 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 More... NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A OMIM
ClinVar		 PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 More... NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		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 chr12:24,192,848...24,201,419
Ensembl chr12:24,192,897...24,201,411 		JBrowse link
G REEP1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO38 F-box protein 38 ISO ClinVar Annotator: match by term: FBXO38-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D OMIM
ClinVar		 PMID:7723957 PMID:24207122 PMID:25741868 PMID:28492532 PMID:31420593 More... NCBI chr 2:149,674,300...149,722,875
Ensembl chr 2:149,674,448...149,722,865 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		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 chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999 		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 chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G LOC100623441 sulfotransferase 1C4 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia OMIM
ClinVar		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:15173594 PMID:16199547 More... NCBI chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187 		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 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8 OMIM
ClinVar		 PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:17879966 More... NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WARS1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IX | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 OMIM
ClinVar		 PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409 NCBI chr 7:121,212,981...121,238,144
Ensembl chr 7:121,212,981...121,238,113 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure OMIM
ClinVar		 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VRK1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 10 OMIM
ClinVar		 PMID:19646678 PMID:21543316 PMID:21920476 PMID:24126608 PMID:25356970 More... NCBI chr 7:117,942,929...118,025,991
Ensembl chr 7:117,942,973...118,028,923 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity OMIM
ClinVar		 PMID:10677333 PMID:12427890 PMID:22232211 PMID:38527963 NCBI chr 6:51,855,844...51,864,753
Ensembl chr 6:51,854,998...51,875,169 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:236,383,684...236,387,705
Ensembl chr 1:236,383,925...236,387,667 		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 chr10:32,171,233...32,187,239
Ensembl chr10:32,172,871...32,180,604 		JBrowse link
G ATOSB atos homolog B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:235,895,613...235,907,142
Ensembl chr 1:235,895,621...235,907,113 		JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822 		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 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666 		JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:236,947,871...236,950,447
Ensembl chr 1:236,948,636...236,950,402 		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 chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734 		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 chr10:32,093,783...32,094,482
Ensembl chr10:32,093,763...32,096,224 		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 chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974 		JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:236,345,894...236,355,755
Ensembl chr 1:236,345,903...236,355,702 		JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981 		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 1:236,971,317...236,993,291
Ensembl chr 1:236,971,505...237,001,731 		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 chr10:32,211,809...32,251,412
Ensembl chr10:32,211,777...32,251,503 		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 1:236,450,573...236,456,381
Ensembl chr 1:236,450,573...236,456,375 		JBrowse link
G DCTN3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr10:32,180,557...32,187,239
Ensembl chr10:32,180,613...32,188,059 		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 chr10:32,275,173...32,355,444
Ensembl chr10:32,275,175...32,355,399 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2 ClinVar PMID:22522442 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26752306 More... NCBI chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991 		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 1:235,790,657...235,799,385
Ensembl chr 1:235,790,749...235,799,381 		JBrowse link
G ENHO energy homeostasis associated ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr10:32,273,136...32,275,177
Ensembl chr10:32,273,086...32,275,114 		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 1:236,538,172...236,551,064
Ensembl chr 1:236,539,262...236,547,959 		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 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974 		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 chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740 		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 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210 		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 1:236,919,821...236,943,828
Ensembl chr 1:236,919,879...236,943,823 		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 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		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 1:236,532,316...236,535,263 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 1:236,670,418...236,671,435
Ensembl chr 1:236,670,604...236,670,948 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr10:32,138,984...32,149,315
Ensembl chr10:32,139,063...32,146,138 		JBrowse link
G LOC100157239 olfactory receptor 13J1-like ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:236,595,655...236,597,257 JBrowse link
G LOC100519461 olfactory receptor 2S2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:236,709,468...236,712,100
Ensembl chr 1:236,709,673...236,710,632 		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 1:236,472,652...236,473,664
Ensembl chr 1:236,472,424...236,473,862 		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 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,128 		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 1:235,757,499...235,783,053
Ensembl chr 1:235,757,797...235,783,051 		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 1:235,880,088...235,888,338
Ensembl chr 1:235,878,355...235,887,993 		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 1:236,821,243...236,898,280
Ensembl chr 1:236,821,414...236,898,276 		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 1:236,468,115...236,478,347
Ensembl chr 1:236,468,320...236,477,683 		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 chr10:32,189,182...32,191,429
Ensembl chr10:32,189,204...32,191,426 		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 1:236,265,915...236,322,958
Ensembl chr 1:236,299,344...236,322,953 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar Annotator: match by term: Spinal muscular atrophy, Jerash type OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21031579 PMID:21842496 More... NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718 		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 1:236,371,708...236,373,414
Ensembl chr 1:236,371,699...236,373,419 		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 1:236,526,659...236,532,181
Ensembl chr 1:236,529,269...236,534,734 		JBrowse link
G SPATA31F3 SPATA31 subfamily F member 3 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:235,677,529...235,687,421 JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:235,844,826...235,849,556
Ensembl chr 1:235,842,554...235,848,767 		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 1:235,891,479...235,894,944
Ensembl chr 1:235,890,679...235,894,737 		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 1:236,341,160...236,345,964
Ensembl chr 1:236,341,261...236,345,962 		JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922 		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 1:236,550,759...236,583,635
Ensembl chr 1:236,551,434...236,584,376 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905 		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 1:235,918,751...236,158,098
Ensembl chr 1:235,918,747...236,158,098 		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 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 | ClinVar Annotator: match by term: PLEKHG5-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16728649 PMID:17564964 PMID:17576681 More... NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838 		JBrowse link
G TNFRSF25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 ClinVar PMID:25741868 NCBI chr 6:67,316,818...67,321,442
Ensembl chr 6:67,316,825...67,321,442 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22522442 PMID:23806086 More... NCBI chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991 		JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr15:121,391,746...121,404,138
Ensembl chr15:121,391,746...121,412,864 		JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr15:121,329,284...121,349,228
Ensembl chr15:121,329,287...121,349,168 		JBrowse link
G RESP18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr15:121,364,165...121,371,430 JBrowse link
autosomal recessive distal hereditary motor neuronopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 6 OMIM
ClinVar		 PMID:21618648 PMID:25741868 PMID:31872057 PMID:34193129 NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 7 | ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features OMIM
ClinVar		 PMID:25741868 PMID:33459760 PMID:33559681 PMID:37712079 NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SORD sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 8 OMIM
ClinVar		 PMID:8622605 PMID:25741868 PMID:28492532 PMID:32367058 PMID:32457452 More... NCBI chr 1:126,659,198...126,701,084
Ensembl chr 1:126,655,156...126,701,138 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ7 coenzyme Q7, hydroxylase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 9 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30369941 PMID:35782625 PMID:36454683 More... NCBI chr 3:26,366,006...26,373,604
Ensembl chr 3:26,366,000...26,373,584 		JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF3 growth differentiation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613031 NCBI chr 5:62,835,926...62,841,827
Ensembl chr 5:62,835,880...62,841,884 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24793961 PMID:25467552 PMID:25741868 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		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 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:26167114 More... NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		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
G SMN1 survival of motor neuron 1, telomeric ISO CTD Direct Evidence: marker/mechanism CTD PMID:17924536 NCBI chr16:47,738,776...47,777,381 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 chr16:47,738,776...47,777,381 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:9199562 PMID:9590291 PMID:9668169 PMID:9818944 More... NCBI chr16:47,738,776...47,777,381 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 ClinVar Annotator: match by term: Bulbospinal neuronopathy X-linked recessive | ClinVar Annotator: match by term: Kennedy disease RGD
OMIM
ClinVar		 PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 More... RGD:11576229 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536 		JBrowse link
Monomelic Amyotrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPP21 cAMP regulated phosphoprotein 21 ISO ClinVar Annotator: match by term: Monomelic amyotrophy ClinVar NCBI chr13:20,955,414...21,088,424
Ensembl chr13:20,934,846...21,088,420 		JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Monomelic amyotrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491 		JBrowse link
G SLIT1 slit guidance ligand 1 ISO ClinVar Annotator: match by term: Monomelic amyotrophy ClinVar NCBI chr14:108,446,003...108,624,508
Ensembl chr14:108,446,004...108,624,302 		JBrowse link
neurogenic scapuloperoneal syndrome Kaeser type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type | ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic type, of Kaeser OMIM
ClinVar		 PMID:5828910 PMID:9536098 PMID:9697706 PMID:10717012 PMID:10905661 More... NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy ClinVar PMID:25741868 NCBI chr14:55,749,409...55,818,738
Ensembl chr14:55,749,473...55,818,004 		JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM
ClinVar		 PMID:12389028 PMID:16199547 PMID:20152369 PMID:25097779 PMID:25741868 More... NCBI chr14:55,816,663...55,901,215
Ensembl chr14:55,816,668...55,901,171 		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 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		JBrowse link
G SEC24A SEC24 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Progressive spinal muscular atrophy ClinVar PMID:25741868 NCBI chr 2:136,833,399...136,952,181
Ensembl chr 2:136,883,854...136,952,178 		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: Amyotrophy, neurogenic scapuloperoneal, New England type | ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy | ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy OMIM
ClinVar		 PMID:1520078 PMID:4056805 PMID:8179305 PMID:15668982 PMID:19661060 More... NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578 		JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIP4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1 | ClinVar Annotator: match by term: TRIP4-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26924529 PMID:27008887 PMID:28492532 More... NCBI chr 1:107,588,778...107,654,679
Ensembl chr 1:107,588,492...107,654,639 		JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCC1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2 OMIM
ClinVar		 PMID:8677029 PMID:16199547 PMID:21791690 PMID:25741868 PMID:26924529 More... NCBI chr14:74,975,163...75,109,283
Ensembl chr14:74,975,165...75,083,634 		JBrowse link
spinal muscular atrophy with lower extremity predominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance ClinVar PMID:29274205 PMID:33547725 PMID:35627109 NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance ClinVar PMID:22368300 PMID:23664120 PMID:25512093 PMID:25609763 PMID:25741868 More...
spinal muscular atrophy with lower extremity predominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:10862709 PMID:12730604 PMID:16565160 PMID:17576681 More...
spinal muscular atrophy with lower extremity predominant 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPN asporin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,561...42,192,813 		JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant OMIM
ClinVar		 PMID:7887410 PMID:8114789 PMID:8981948 PMID:9536098 PMID:9713859 More... NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		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 chr 3:42,053,074...42,309,745
Ensembl chr 3:42,053,058...42,308,429 		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 chr 3:42,205,246...42,243,746
Ensembl chr 3:42,203,171...42,243,547 		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 chr 3:41,945,846...42,022,610
Ensembl chr 3:41,945,770...42,022,760 		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 chr 3:42,308,001...42,368,162
Ensembl chr 3:42,308,005...42,368,118 		JBrowse link
G LOC110259104 putative serine protease 47 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532
G NOL8 nucleolar protein 8 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:42,026,233...42,053,049
Ensembl chr 3:42,026,278...42,052,773 		JBrowse link
G OGN osteoglycin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:42,116,521...42,135,940
Ensembl chr 3:42,116,526...42,135,939 		JBrowse link
G OMD osteomodulin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:42,142,603...42,155,032
Ensembl chr 3:42,142,658...42,154,583 		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 chr14:3,081,964...3,138,113
Ensembl chr14:3,081,972...3,138,103 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein ISO ClinVar Annotator: match by term: Gower's muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:26627873 PMID:28490364 PMID:28492532 More... NCBI chr 3:72,240,535...72,281,811
Ensembl chr 3:72,240,600...72,277,296 		JBrowse link
spinal muscular atrophy with lower extremity predominant 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: BICD2-related condition | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant OMIM
ClinVar		 PMID:11241493 PMID:21208200 PMID:23664116 PMID:25741868 PMID:26467025 More... NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		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:14,739...15,266
Ensembl chr MT:14,739...15,266 		JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy OMIM
ClinVar		 PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 More... NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821 		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 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838 		JBrowse link
Spinal Muscular Atrophy, Infantile, James Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHOD3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type ClinVar PMID:25741868 NCBI chr 6:120,036,824...120,585,987
Ensembl chr 6:120,036,845...120,586,816 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type OMIM
ClinVar		 PMID:17101916 PMID:20301420 PMID:22462675 PMID:24604904 PMID:25168514 More... NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		JBrowse link
spinal muscular atrophy, Jokela type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H22orf15 chromosome 14 C22orf15 homolog ISO ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type ClinVar PMID:28492532 NCBI chr14:49,924,196...49,926,033
Ensembl chr14:49,923,613...49,926,264 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, Jokela type | ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 PMID:25113787 More... NCBI chr14:49,921,600...49,923,529
Ensembl chr14:49,921,595...49,923,526 		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 chr16:47,738,776...47,777,381 JBrowse link
G VPS54 VPS54 subunit of GARP complex ISO OMIM:253300 MouseDO NCBI chr 3:77,856,093...77,978,194
Ensembl chr 3:77,856,138...77,975,429 		JBrowse link
X-linked distal spinal muscular atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE OMIM
ClinVar		 PMID:10570920 PMID:11241493 PMID:14985388 PMID:16083905 PMID:16199547 More... NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: AMC, distal, X-linked | ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 More... NCBI chr  X:41,810,726...41,832,818
Ensembl chr  X:41,814,101...41,832,812 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15436
    disease of anatomical entity 15105
      musculoskeletal system disease 7847
        neuromuscular disease 3148
          motor neuron disease 534
            spinal muscular atrophy 159
              Camptocormia 4
              Distal Hereditary Motor Neuropathy, Type II 0
              Kennedy's disease 2
              Progressive Encephalopathy with Amyotrophy and Optic Atrophy 2
              Spinal Muscular Atrophy with Mental Retardation 0
              Spinal Muscular Atrophy, Facioscapulohumeral Type 1
              Spinal Muscular Atrophy, Infantile, James Type 2
              Spinal Muscular Atrophy, Ryukyuan Type 0
              Spinal Muscular Atrophy, Segmental 0
              X-linked distal spinal muscular atrophy 3 1
              X-linked spinal muscular atrophy 2 2
              adult spinal muscular atrophy 1
              autosomal dominant adult-onset proximal spinal muscular atrophy 2
              autosomal dominant distal hereditary motor neuronopathy + 37
              autosomal recessive distal hereditary motor neuronopathy + 64
              childhood spinal muscular atrophy + 9
              neurogenic scapuloperoneal syndrome Kaeser type 1
              progressive muscular atrophy 2
              scapuloperoneal spinal muscular atrophy 1
              spinal muscular atrophy with lower extremity predominant + 14
              spinal muscular atrophy, Jokela type 2
Path 2
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  disease 15436
    disease of anatomical entity 15105
      nervous system disease 13259
        peripheral nervous system disease 4272
          neuropathy 4084
            neuromuscular disease 3148
              motor neuron disease 534
                spinal muscular atrophy 159
                  Camptocormia 4
                  Distal Hereditary Motor Neuropathy, Type II 0
                  Kennedy's disease 2
                  Progressive Encephalopathy with Amyotrophy and Optic Atrophy 2
                  Spinal Muscular Atrophy with Mental Retardation 0
                  Spinal Muscular Atrophy, Facioscapulohumeral Type 1
                  Spinal Muscular Atrophy, Infantile, James Type 2
                  Spinal Muscular Atrophy, Ryukyuan Type 0
                  Spinal Muscular Atrophy, Segmental 0
                  X-linked distal spinal muscular atrophy 3 1
                  X-linked spinal muscular atrophy 2 2
                  adult spinal muscular atrophy 1
                  autosomal dominant adult-onset proximal spinal muscular atrophy 2
                  autosomal dominant distal hereditary motor neuronopathy + 37
                  autosomal recessive distal hereditary motor neuronopathy + 64
                  childhood spinal muscular atrophy + 9
                  neurogenic scapuloperoneal syndrome Kaeser type 1
                  progressive muscular atrophy 2
                  scapuloperoneal spinal muscular atrophy 1
                  spinal muscular atrophy with lower extremity predominant + 14
                  spinal muscular atrophy, Jokela type 2
paths to the root