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
Accession: DOID:12377
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 .
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Aars1
alanyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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Ankrd1
ankyrin repeat domain 1
ISO
RGD
PMID:14516314
RGD:1578366
NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
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Ar
androgen receptor
ISO
RGD
PMID:10400640
RGD:1578680
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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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 More...
NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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Dpp6
dipeptidyl peptidase like 6
susceptibility
ISO
DNA:SNP:intron: (rs10260404) (human)
RGD
PMID:19332697
RGD:5687182
NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532
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Dst
dystonin
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:16199547 PMID:25059916 PMID:28492532
NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar
PMID:25512093 PMID:28492532
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Etfdh
electron transfer flavoprotein dehydrogenase
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr 2:164,740,547...164,762,754
Ensembl chr 2:164,729,749...164,762,745
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Fbln5
fibulin 5
ISO
ClinVar Annotator: match by term: Proximal spinal muscular atrophy
ClinVar
NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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Fbxo38
F-box protein 38
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:28492532
NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961
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Fus
Fus RNA binding protein
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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Gars1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17101916 PMID:17595294 PMID:17663003 PMID:19329989 PMID:20301420 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:31827005 PMID:31832804 PMID:31985473 More...
NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Hdac4
histone deacetylase 4
ISO
mRNA:increased expression:muscle:
RGD
PMID:22798624
RGD:9681458
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hexb
hexosaminidase subunit beta
ISO
RGD
PMID:1720305
RGD:1599424
NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar
PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15290238 PMID:16199547 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 More...
NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
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Kcnb1
potassium voltage-gated channel subfamily B member 1
ISO
protein:decreased expression:second lumbar spinal cord segment, motor neuron, neuronal cell body (mouse)
RGD
PMID:28504671
RGD:126908005
NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
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Litaf
lipopolysaccharide-induced TNF factor
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763
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Mars1
methionyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:28492532
NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
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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 PMID:26912637 PMID:27105897 PMID:27105987 PMID:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 More...
NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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Nefl
neurofilament light chain
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:levator auris longus, transversus abdominis (mouse)
RGD
PMID:22153987
RGD:6767297
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Plekhg5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532
NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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Pmp22
peripheral myelin protein 22
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
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Prx
periaxin
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy
ClinVar
PMID:9497266 PMID:15106121 PMID:21438761 PMID:21576111 PMID:22088787 PMID:24105744 PMID:24244371 PMID:25741868 PMID:28492532 More...
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Sh3tc2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:16199547 PMID:20220177 PMID:27068304 PMID:28492532
NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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Slc5a7
solute carrier family 5 member 7
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:28492532
NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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Smn1
survival of motor neuron 1, telomeric
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Spinal muscular atrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:10679938 PMID:11839954 PMID:12833158 PMID:15862279 PMID:18155522 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 More...
RGD:9831153
NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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Sv2a
synaptic vesicle glycoprotein 2a
ISO
protein:decreased expression:transversus abdominis muscle, axon terminus (mouse)
RGD
PMID:28173138
RGD:11535337
NCBI chr 2:183,741,455...183,757,290
Ensembl chr 2:183,741,547...183,756,927
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Sv2b
synaptic vesicle glycoprotein 2b
ISO
protein:decreased expression:multiple (mouse)
RGD
PMID:28173138
RGD:11535337
NCBI chr 1:128,978,471...129,152,479
Ensembl chr 1:128,978,473...129,152,479
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Sv2c
synaptic vesicle glycoprotein 2c
ISO
protein:decreased expression:transversus abdominis muscle, axon terminus (mouse)
RGD
PMID:28173138
RGD:11535337
NCBI chr 2:27,232,933...27,428,479
Ensembl chr 2:27,232,933...27,428,477
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Syt2
synaptotagmin 2
ISO
protein:decreased expression:multiple (mouse)
RGD
PMID:28173138
RGD:11535337
NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859
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Tdrkh
tudor and KH domain containing
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:30503856
NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755
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Tll2
tolloid-like 2
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar
PMID:25741868
NCBI chr 1:239,916,017...240,027,916
Ensembl chr 1:239,915,508...240,028,120
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Tnfrsf25
TNF receptor superfamily member 25
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr 5:162,621,669...162,626,341
Ensembl chr 5:162,622,075...162,626,341
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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 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Tymp
thymidine phosphorylase
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar
PMID:2005900 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Vapb
VAMP associated protein B and C
onset
ISO
DNA:missense mutation:cds:p.P56S (human) ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant
ClinVar RGD
PMID:15372378
RGD:5688230
NCBI chr 3:162,536,090...162,578,738
Ensembl chr 3:162,535,905...162,573,763
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Vrk1
VRK serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436
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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 More...
NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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Vapb
VAMP associated protein B and C
ISO
ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type
OMIM ClinVar
PMID:15372378 PMID:16187141 PMID:16967488 PMID:17804640 PMID:18322265 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 More...
NCBI chr 3:162,536,090...162,578,738
Ensembl chr 3:162,535,905...162,573,763
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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 More...
NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy
ClinVar
PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:23664120 PMID:25326635 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25609763 PMID:25741868 PMID:26100331 PMID:27066557 PMID:27549087 PMID:28492532 PMID:28554554 PMID:29671837 PMID:32788638 More...
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Fig4
FIG4 phosphoinositide 5-phosphatase
ISO
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy
ClinVar
NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
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Gars1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy
ClinVar
PMID:17101916 PMID:20301420 PMID:22462675 PMID:25168514
NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy
ClinVar
PMID:2545169 PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 PMID:16199547 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20859832 PMID:22157136 PMID:22965130 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:28403181 PMID:28492532 PMID:29761130 PMID:31211173 More...
NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy
ClinVar
PMID:18585512 PMID:18926329 PMID:25741868 PMID:25886484 PMID:28152038 PMID:28492532 More...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Morc2
MORC family CW-type zinc finger 2
ISO
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy
ClinVar
PMID:26659848 PMID:28492532
NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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Nefl
neurofilament light chain
ISO
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy
ClinVar
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy
ClinVar
PMID:19696032 PMID:22088787 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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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 PMID:31468327 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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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 PMID:33673806 More...
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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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 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 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Rrm2b
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
ClinVar Annotator: match by term: Bent Spine Syndrome
ClinVar
PMID:17486094 PMID:21378381 PMID:24741716
NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Smn1
survival of motor neuron 1, telomeric
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17924536
NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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Dctn1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor
ClinVar
PMID:28492532
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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Hspb1
heat shock protein family B (small) member 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor
ClinVar
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Hspb3
heat shock protein family B (small) member 3
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor
ClinVar
NCBI chr 2:45,295,285...45,295,999
Ensembl chr 2:45,295,053...45,296,145
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Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
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Fbxo38
F-box protein 38
ISO
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961
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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 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28166811 PMID:28251916 PMID:28492532 More...
NCBI chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185
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Hspb1
heat shock protein family B (small) member 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B
OMIM ClinVar
PMID:9536098 PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 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:24607769 PMID:25220807 PMID:25741868 PMID:25965061 PMID:26141737 PMID:26467025 PMID:26986878 PMID:26989944 PMID:27816334 PMID:27830184 PMID:28144995 PMID:28166811 PMID:28492532 PMID:28547731 PMID:28595321 PMID:28702508 PMID:29381233 PMID:29547183 More...
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Hspb3
heat shock protein family B (small) member 3
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C
OMIM ClinVar
PMID:20142617 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532
NCBI chr 2:45,295,285...45,295,999
Ensembl chr 2:45,295,053...45,296,145
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Fbxo38
F-box protein 38
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D
OMIM ClinVar
PMID:7723957 PMID:9536098 PMID:17576681 PMID:24207122 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31420593 More...
NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961
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Gars1
glycyl-tRNA synthetase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Reep1
receptor accessory protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: HMN 5A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
ClinVar
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 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 More...
NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Gars1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
OMIM ClinVar
PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17101916 PMID:17595294 PMID:19329989 PMID:20301420 PMID:24604904 PMID:25168514 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26503042 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28166811 PMID:28492532 PMID:28594869 PMID:29520015 PMID:29648643 PMID:31827005 PMID:31832804 PMID:31985473 More...
NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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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 PMID:25762494 PMID:28492532 More...
NCBI chr10:81,924,584...81,930,844
Ensembl chr10:81,924,569...81,930,871
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Reep1
receptor accessory protein 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B
OMIM ClinVar
PMID:16826527 PMID:18321925 PMID:19034539 PMID:20718791 PMID:22703882 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, TYPE 5C
OMIM ClinVar
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 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:23292937 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 PMID:32397312 More...
NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Ccdc138
coiled-coil domain containing 138
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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Edar
ectodysplasin-A receptor
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Gcc2
GRIP and coiled-coil domain containing 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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Lims1
LIM zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Slc5a7
solute carrier family 5 member 7
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
OMIM ClinVar
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 More...
NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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Sult1c2a
sulfotransferase family, cytosolic, 1C, member 2a
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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Sult1c3
sulfotransferase family 1C member 3
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
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Dctn1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease | ClinVar Annotator: match by term: HMN VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B
OMIM ClinVar
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16505168 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 PMID:32402491 More...
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:25635128
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Gars1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:25635128
NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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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 More...
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:28492532
NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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Nefl
neurofilament light chain
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:26467025 PMID:28492532
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Plekhg5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:16728649 PMID:17564964
NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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Scn11a
sodium voltage-gated channel alpha subunit 11
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:24776970 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29213238
NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:24533459
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Sh3tc2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:28492532
NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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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 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:19661060 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:25326637 PMID:25741868 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27549087 PMID:27751652 PMID:28166811 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Wars1
tryptophanyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9
OMIM ClinVar
PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409
NCBI chr 6:127,776,088...127,807,273
Ensembl chr 6:127,776,090...127,807,269
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Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure
ClinVar OMIM RGD
PMID:234316 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 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:20859832 PMID:21353777 PMID:22157136 PMID:22791546 PMID:22965130 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:28403181 PMID:28492532 PMID:28902413 PMID:29761130 PMID:29858556 PMID:30598237 PMID:30863264 PMID:31211173 PMID:32376792 PMID:32488064 PMID:34190362 PMID:11528396 More...
RGD:737748
NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
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Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:56,890,042...56,895,888
Ensembl chr 5:56,890,042...56,895,888
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Car9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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Ccin
calicin
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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Ccl27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Cd72
Cd72 molecule
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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Clta
clathrin, light chain A
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:56,823,448...56,861,075
Ensembl chr 5:56,823,965...56,841,392
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Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390
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Dctn3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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Dnai1
dynein, axonemal, intermediate chain 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,176,840...57,185,492
Ensembl chr 5:57,176,845...57,185,490
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Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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Fam166b
family with sequence similarity 166, member B
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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Fam205a
family with sequence similarity 205, member A
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,065,739...57,071,880
Ensembl chr 5:57,065,747...57,071,738
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Fam214b
family with sequence similarity 214, member B
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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Fam221b
family with sequence similarity 221, member B
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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Galt
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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Gba2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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Glipr2
GLI pathogenesis-related 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:58,170,417...58,200,947
Ensembl chr 5:58,170,425...58,202,272
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Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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Hint2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
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Hrct1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,982,409...57,983,186
Ensembl chr 5:57,982,470...57,982,790
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Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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LOC100360821
rCG55159-like
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,199,931...57,203,964
Ensembl chr 5:57,200,000...57,204,070
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Msmp
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
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Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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Olr834
olfactory receptor 834
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
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Olr840
olfactory receptor 840
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
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Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502
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Rgp1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
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Rpp25l
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
OMIM ClinVar
PMID:16199547 PMID:21842496 PMID:24088041 PMID:25261976 PMID:25704016 PMID:25741868 PMID:26078401 PMID:26205306 PMID:26366463 PMID:26467025 PMID:26633545 PMID:27402882 PMID:27629094 PMID:28492532 PMID:28708278 PMID:29115704 PMID:29411640 PMID:30266269 PMID:30311446 PMID:31324122 PMID:31511340 PMID:32579787 More...
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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Sit1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
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Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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Stoml2
stomatin like 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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Tesk1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
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Tln1
talin 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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Tmem8b
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
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Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
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Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Espn
espin
ISO
ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset
ClinVar
PMID:17564964 PMID:23777631 PMID:28492532
NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
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Plekhg5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset | ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16728649 PMID:17564964 PMID:17576681 PMID:23777631 PMID:23844677 PMID:25741868 PMID:26392352 PMID:26752306 PMID:28160950 PMID:28492532 More...
NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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Tnfrsf25
TNF receptor superfamily member 25
ISO
ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset
ClinVar
PMID:17564964 PMID:23777631 PMID:28492532
NCBI chr 5:162,621,669...162,626,341
Ensembl chr 5:162,622,075...162,626,341
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Des
desmin
ISO
ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy
ClinVar
PMID:28492532
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Dnajb2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22522442 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26257172 PMID:27083531 PMID:27449489 PMID:28492532 More...
NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy
ClinVar
PMID:28492532
NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO
ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy
ClinVar
PMID:28492532
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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Resp18
regulated endocrine-specific protein 18
ISO
ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy
ClinVar
PMID:28492532
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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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 More...
NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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Smn1
survival of motor neuron 1, telomeric
ISO
ClinVar Annotator: match by term: Kugelberg-Welander disease
OMIM ClinVar
PMID:9158159 PMID:9590291 PMID:9668169 PMID:9818944 PMID:9837824 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 More...
NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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Ar
androgen receptor
treatment
ISO
DNA:mutation,repeats:cds: ClinVar Annotator: match by term: Kennedy disease DNA:repeats:exon
ClinVar OMIM RGD
PMID:25741868 PMID:2062380 PMID:8469342 PMID:26942099
RGD:734599 , RGD:11576241 , RGD:11576229
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:10447463
RGD:6218978
NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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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:30615648 PMID:30764827 PMID:31953240 PMID:32093415 PMID:32150461 PMID:33652119 More...
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
OMIM ClinVar
PMID:25741868 PMID:27666369
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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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:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16650086 PMID:17157502 PMID:17236769 PMID:17318636 PMID:17702496 PMID:17979987 PMID:18055493 PMID:20635405 PMID:21204801 PMID:21984748 PMID:24803842 PMID:25135358 PMID:25741868 PMID:26301378 PMID:26404900 PMID:26467025 PMID:26484845 PMID:27142102 PMID:27708273 PMID:27884173 PMID:28492532 PMID:28877744 PMID:28914264 PMID:30028523 PMID:30919934 PMID:31263448 PMID:31517061 PMID:31788660 More...
NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Amyotrophy, neurogenic scapuloperoneal, New England type | ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy | ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1520078 PMID:4056805 PMID:8179305 PMID:15668982 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:22065612 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24319099 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28166811 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31468327 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Trip4
thyroid hormone receptor interactor 4
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1
OMIM ClinVar
PMID:25741868 PMID:26924529 PMID:28492532
NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774
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Ascc1
activating signal cointegrator 1 complex subunit 1
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2
OMIM ClinVar
PMID:16199547 PMID:21791690 PMID:25741868 PMID:26924529 PMID:28218388 PMID:28492532 PMID:28749478 PMID:30327447 PMID:31680123 PMID:31880396 More...
NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance
ClinVar
PMID:23664120 PMID:25512093 PMID:25609763 PMID:25741868 PMID:26100331 PMID:27066557 PMID:29671837 PMID:32788638 More...
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
OMIM ClinVar
PMID:9536098 PMID:10862709 PMID:12730604 PMID:17576681 PMID:18414213 PMID:20697106 PMID:21102439 PMID:21820100 PMID:22459677 PMID:22847149 PMID:23603762 PMID:23664119 PMID:24033266 PMID:25326635 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25609763 PMID:25741868 PMID:26100331 PMID:26467025 PMID:26846447 PMID:27331017 PMID:27549087 PMID:28196890 PMID:28492532 PMID:28554554 PMID:28602352 More...
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Aspn
asporin
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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Bicd2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
OMIM ClinVar
PMID:2778477 PMID:8114789 PMID:9536098 PMID:9713859 PMID:17576681 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:30564185 PMID:31692161 PMID:32581362 More...
NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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Cenpp
centromere protein P
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr17:15,013,869...15,189,312
Ensembl chr17:15,014,058...15,189,304
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Ecm2
extracellular matrix protein 2
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr17:15,120,194...15,152,536
Ensembl chr17:15,120,196...15,152,516
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Iars1
isoleucyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr17:14,940,919...14,987,277
Ensembl chr17:14,940,924...14,987,237
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Ippk
inositol-pentakisphosphate 2-kinase
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr17:15,190,191...15,235,203
Ensembl chr17:15,190,265...15,229,541
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Nol8
nucleolar protein 8
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr17:14,990,394...15,013,784
Ensembl chr17:14,990,417...15,013,848
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Ogn
osteoglycin
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr17:15,032,069...15,052,626
Ensembl chr17:15,032,069...15,052,739
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Omd
osteomodulin
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr17:15,060,217...15,068,441
Ensembl chr17:15,060,217...15,068,441
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Prss47
serine protease 47
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr17:139,835...154,263
Ensembl chr17:140,603...154,261
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Sptlc1
serine palmitoyltransferase, long chain base subunit 1
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
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Tia1
TIA1 cytotoxic granule-associated RNA binding protein
ISO
ClinVar Annotator: match by term: Gower's muscular dystrophy
ClinVar
PMID:28492532 PMID:28817800 PMID:31996268
NCBI chr 4:118,852,765...118,883,252
Ensembl chr 4:118,852,837...118,880,586
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Bicd2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
OMIM ClinVar
PMID:25741868 PMID:27751653 PMID:28635954 PMID:30054298
NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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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
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Asah1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY
OMIM ClinVar
PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26467025 PMID:26526000 PMID:27723502 PMID:28492532 PMID:29169047 PMID:29358611 More...
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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Plekhg5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type
ClinVar
NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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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 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31985473 PMID:32181591 More...
NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 PMID:25113787 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:27066538 PMID:27810918 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29540477 PMID:29789341 PMID:30014597 PMID:31690696 More...
NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
G
RGD1564162
similar to Homo sapiens fetal lung specific expression unknown
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type
ClinVar
PMID:28492532
NCBI chr20:12,721,738...12,725,864
Ensembl chr20:12,723,160...12,726,059
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 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 More...
NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
G
Vps54
VPS54 subunit of GARP complex
ISS
OMIM:253300
MouseDO
NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857
G
Atp7a
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE knock in;DNA:missense mutation:cds:p.T985I (mouse) DNA:missense mutations:cds:p.P1386S, p.T994I (human)
OMIM ClinVar RGD
PMID:10570920 PMID:11241493 PMID:14985388 PMID:16083905 PMID:18414213 PMID:19153371 PMID:20045993 PMID:20170900 PMID:22210628 PMID:23281160 PMID:24033266 PMID:25741868 PMID:28119449 PMID:28492532 PMID:27293072 PMID:20170900 More...
RGD:11340198 , RGD:11252181
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
G
Uba1
ubiquitin-like modifier activating enzyme 1
ISO
ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:18179898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29034082 PMID:32181232 PMID:33108101 PMID:33690815 More...
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
G
Zc4h2
zinc finger C4H2-type containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23623388
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18032
disease of anatomical entity
17412
musculoskeletal system disease
7137
neuromuscular disease
2185
motor neuron disease
490
spinal muscular atrophy
143
Camptocormia
3
Distal Hereditary Motor Neuropathy, Type II
0
Kennedy's disease
2
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
1
Spinal Muscular Atrophy with Mental Retardation
0
Spinal Muscular Atrophy, Facioscapulohumeral Type
1
Spinal Muscular Atrophy, Infantile, James Type
1
Spinal Muscular Atrophy, Jokela Type
2
Spinal Muscular Atrophy, Ryukyuan Type
0
Spinal Muscular Atrophy, Segmental
0
X-linked distal spinal muscular atrophy 3
1
X-linked spinal muscular atrophy 2
2
adult spinal muscular atrophy
1
anterior horn cell disease
0
autosomal dominant adult-onset proximal spinal muscular atrophy
2
autosomal dominant distal hereditary motor neuronopathy +
32
autosomal recessive distal hereditary motor neuronopathy +
58
childhood spinal muscular atrophy +
6
neurogenic scapuloperoneal syndrome Kaeser type
1
progressive muscular atrophy
1
scapuloperoneal spinal muscular atrophy
1
spinal muscular atrophy with lower extremity predominance +
14
Path 2
disease
18032
disease of anatomical entity
17412
nervous system disease
13079
peripheral nervous system disease
2974
neuropathy
2766
neuromuscular disease
2185
motor neuron disease
490
spinal muscular atrophy
143
Camptocormia
3
Distal Hereditary Motor Neuropathy, Type II
0
Kennedy's disease
2
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
1
Spinal Muscular Atrophy with Mental Retardation
0
Spinal Muscular Atrophy, Facioscapulohumeral Type
1
Spinal Muscular Atrophy, Infantile, James Type
1
Spinal Muscular Atrophy, Jokela Type
2
Spinal Muscular Atrophy, Ryukyuan Type
0
Spinal Muscular Atrophy, Segmental
0
X-linked distal spinal muscular atrophy 3
1
X-linked spinal muscular atrophy 2
2
adult spinal muscular atrophy
1
anterior horn cell disease
0
autosomal dominant adult-onset proximal spinal muscular atrophy
2
autosomal dominant distal hereditary motor neuronopathy +
32
autosomal recessive distal hereditary motor neuronopathy +
58
childhood spinal muscular atrophy +
6
neurogenic scapuloperoneal syndrome Kaeser type
1
progressive muscular atrophy
1
scapuloperoneal spinal muscular atrophy
1
spinal muscular atrophy with lower extremity predominance +
14