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: | motor neuron disease |
|
Accession: | DOID:231
|
browse the term
|
Definition: | Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089) |
Synonyms: | exact_synonym: | Lower Motor Neuron Disease; Motor Neuron Diseases; Motor System Disease; Motor System Diseases; Secondary Motor Neuron Disease; familial motor neuron disease; upper motor neuron disease |
| narrow_synonym: | MADRAS MOTOR NEURON DISEASE |
| primary_id: | MESH:D016472 |
| alt_id: | RDO:0002003 |
| xref: | ICD9CM:335.2 |
For additional species annotation, visit the
Alliance of Genome Resources.
|
|
|
|
G |
Aif1 |
allograft inflammatory factor 1 |
|
IEP |
protein:increased expression:cervical spinal cord (rat) |
RGD |
PMID:18931666 |
RGD:2313029 |
NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
|
|
G |
Gars |
glycyl-tRNA synthetase |
|
ISO |
ClinVar Annotator: match by term: Motor neuron disease |
ClinVar |
|
|
NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
|
|
G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:10215103 |
RGD:5490213 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
|
|
G |
Htra2 |
HtrA serine peptidase 2 |
treatment |
ISO |
|
RGD |
PMID:22976834, PMID:22976834 |
RGD:10402865, RGD:10402865 |
NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
|
|
G |
Mfn2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Lower motor neuron disease |
ClinVar |
PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25326637 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 |
|
NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
|
|
G |
Mt3 |
metallothionein 3 |
|
IMP |
|
RGD |
PMID:16382788 |
RGD:6480623 |
NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
|
|
G |
Nek1 |
NIMA-related kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Motor neuron disease |
ClinVar |
PMID:25741868 PMID:28089114 PMID:28492532 PMID:29068549 |
|
NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
|
|
G |
Nos1 |
nitric oxide synthase 1 |
|
ISO |
protein:decreased expression;motor neuron |
RGD |
PMID:12200626 |
RGD:5132629 |
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
|
|
G |
Optn |
optineurin |
|
ISO |
ClinVar Annotator: match by term: Motor neuron disease |
ClinVar |
PMID:28089114 PMID:28492532 |
|
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
|
|
G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18313024 PMID:20603202 |
|
NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
|
|
G |
Prdx3 |
peroxiredoxin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16702190 |
|
NCBI chr 1:282,238,774...282,251,193
Ensembl chr 1:282,238,773...282,251,257
|
|
G |
Rhot1 |
ras homolog family member T1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr10:67,559,277...67,640,622
Ensembl chr10:67,532,030...67,640,555
|
|
G |
Slc52a3 |
solute carrier family 52 member 3 |
|
ISO |
ClinVar Annotator: match by term: Madras motor neuron disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
|
|
G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism human transgene in rat model ClinVar Annotator: match by term: Motor neuron disease |
CTD ClinVar |
PMID:1259395 PMID:7635196 PMID:7673954 PMID:7997024 PMID:8004110 PMID:8058797 PMID:8069312 PMID:8446170 PMID:8528216 PMID:8572658 PMID:10400992 PMID:10732812 PMID:12165567 PMID:12358759 PMID:15056757 PMID:16702190 PMID:17394531 PMID:18301754 PMID:19259395 PMID:19483195 PMID:20184521 PMID:21549128 PMID:22292843 PMID:23286750 PMID:23726301 PMID:23773010 PMID:24439480 PMID:26362407 PMID:26467025 PMID:28089114 PMID:28089144 PMID:28105640 PMID:28291249 PMID:28492532 PMID:30637102, PMID:11717358 |
RGD:2290184 |
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
|
|
G |
Tardbp |
TAR DNA binding protein |
|
ISO |
DNA:missense mutation:cds:p.A315T(human) ClinVar Annotator: match by term: Motor neuron disease |
ClinVar |
PMID:18372902 PMID:19224587 PMID:19760257 PMID:25442115 PMID:25741868 PMID:28089114 PMID:28492532, PMID:18288693 |
RGD:5687193 |
NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
|
|
G |
Tbk1 |
TANK-binding kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Motor neuron disease |
ClinVar |
PMID:28089114 |
|
NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
|
|
G |
Vim |
vimentin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16831193 |
|
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
|
|
|
G |
Smn1 |
survival of motor neuron 1, telomeric |
|
ISO |
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, TYPE IV |
OMIM ClinVar |
PMID:21542063 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
|
|
|
G |
Adarb1 |
adenosine deaminase, RNA-specific, B1 |
|
ISO ISS |
mRNA:decreased expression:motor neuron: |
MouseDO |
PMID:20372915, PMID:22226999 |
RGD:10755336, RGD:13432092 |
NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
|
|
G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
protein:increased expression:skeletal muscle |
RGD |
PMID:18273716 |
RGD:5509081 |
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
|
|
G |
Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:19481195 PMID:25741868 PMID:28492532 PMID:28832565, PMID:11586297 |
RGD:1599080 |
NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
|
|
G |
Ang |
angiogenin |
no_association |
ISO |
DNA:mutations:multiple ClinVar Annotator: match by term: Amyotrophic lateral sclerosis protein:increased expression:cerebrospinal fluid DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human) DNA:missense mutations |
ClinVar |
PMID:25741868, PMID:22190368, PMID:19177252, PMID:17462671, PMID:16501576 |
RGD:6892707, RGD:6892713, RGD:6892716, RGD:6892718 |
NCBI chr15:28,022,926...28,028,636
|
|
G |
Aox1 |
aldehyde oxidase 1 |
|
ISO |
|
RGD |
PMID:7570184 |
RGD:734575 |
NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
|
|
G |
Apoe |
apolipoprotein E |
severity |
ISO |
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) |
RGD |
PMID:8899655 |
RGD:12880359 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
|
|
G |
Aqp4 |
aquaporin 4 |
|
IEP |
mRNA, protein:increased expression:spinal cord protein:increased expression:brainstem |
RGD |
PMID:19089902, PMID:22987392 |
RGD:5490153, RGD:8662893 |
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
|
|
G |
Atg5 |
autophagy related 5 |
|
ISO |
mRNA:increased expression:spinal cord |
RGD |
PMID:23851366 |
RGD:11561951 |
NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
|
|
G |
Atox1 |
antioxidant 1 copper chaperone |
disease_progression |
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:19656261 |
RGD:13524567 |
NCBI chr10:40,790,850...40,805,886
Ensembl chr10:40,790,845...40,805,941
|
|
G |
Atxn2 |
ataxin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
CTD ClinVar |
PMID:25741868 PMID:27377857 |
|
NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
|
|
G |
Bad |
BCL2-associated agonist of cell death |
disease_progression |
ISO |
|
RGD |
PMID:10582606 |
RGD:13506907 |
NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
|
|
G |
Bak1 |
BCL2-antagonist/killer 1 |
treatment |
ISO |
|
RGD |
PMID:20890041 |
RGD:13506803 |
NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment disease_progression severity |
ISO |
|
RGD |
PMID:24699224, PMID:10582606, PMID:20195368, PMID:20890041, PMID:21193837 |
RGD:13506797, RGD:13506907, RGD:13506805, RGD:13506803, RGD:13506800 |
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
disease_progression |
ISO |
|
RGD |
PMID:10582606 |
RGD:13506907 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
|
|
G |
Bcl2l1 |
Bcl2-like 1 |
treatment disease_progression |
IMP ISO |
|
RGD |
PMID:18543336, PMID:10582606 |
RGD:13506902, RGD:13506907 |
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
|
|
G |
Becn1 |
beclin 1 |
|
ISO |
mRNA:increased expression:spinal cord |
RGD |
PMID:23851366 |
RGD:11561951 |
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
|
|
G |
Bid |
BH3 interacting domain death agonist |
|
ISO |
|
RGD |
PMID:29440992 |
RGD:13506949 |
NCBI chr 4:153,439,812...153,465,247
Ensembl chr 4:153,442,218...153,465,203
|
|
G |
Bnip3l |
BCL2 interacting protein 3 like |
|
ISO |
|
RGD |
PMID:29440992 |
RGD:13506949 |
NCBI chr15:43,643,897...43,667,123
Ensembl chr15:43,643,897...43,667,029
|
|
G |
Bptf |
bromodomain PHD finger transcription factor |
|
ISO |
mRNA,protein:increased expression:spinal cord: |
RGD |
PMID:9225734 |
RGD:9586057 |
NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
|
|
G |
C3 |
complement C3 |
|
IEP |
|
RGD |
PMID:19050293 |
RGD:5130169 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
|
|
G |
C5ar1 |
complement C5a receptor 1 |
|
IMP |
|
RGD |
PMID:19050293 |
RGD:5130169 |
NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
|
|
G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
|
|
G |
Calca |
calcitonin-related polypeptide alpha |
|
ISO |
|
RGD |
PMID:21964254 |
RGD:5684010 |
NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
|
|
G |
Camk1g |
calcium/calmodulin-dependent protein kinase IG |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23624525 |
|
NCBI chr13:112,075,689...112,099,472
Ensembl chr13:112,075,690...112,099,336
|
|
G |
Casp12 |
caspase 12 |
|
IEP |
protein:increased activity:spinal cord |
RGD |
PMID:16847061 |
RGD:2311466 |
NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
|
|
G |
Casp3 |
caspase 3 |
|
IEP |
protein:increased activity:spinal cord |
RGD |
PMID:16847061 |
RGD:2311466 |
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
|
|
G |
Casp9 |
caspase 9 |
|
IEP |
protein:increased activity:spinal cord |
RGD |
PMID:16847061 |
RGD:2311466 |
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
|
|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
disease_progression |
ISO |
protein:increased expression:plasma: protein:decreased expression:monocyte: |
RGD |
PMID:16857270, PMID:16857270 |
RGD:8657363, RGD:8657363 |
|
|
G |
Ccs |
copper chaperone for superoxide dismutase |
treatment |
ISO |
|
RGD |
PMID:26826269 |
RGD:13524551 |
NCBI chr 1:220,075,251...220,096,319
Ensembl chr 1:220,075,247...220,096,404
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20348957, PMID:20348957 |
RGD:5490547 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
|
|
G |
Cdk5 |
cyclin-dependent kinase 5 |
|
ISO |
|
RGD |
PMID:11343650 |
RGD:734741 |
NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
|
|
G |
Cfap410 |
cilia and flagella associated protein 410 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
CTD ClinVar |
PMID:25741868 PMID:27455348 |
|
NCBI chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
|
|
G |
Chmp2b |
charged multivesicular body protein 2B |
|
ISO |
DNA:mutations:cds:Q206H, I29V (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16807408, PMID:16807408 |
RGD:5688711 |
NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
|
|
G |
Chrna3 |
cholinergic receptor nicotinic alpha 3 subunit |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275
|
|
G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29454195 |
|
NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
|
|
G |
Chrnb4 |
cholinergic receptor nicotinic beta 4 subunit |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:59,610,489...59,629,073
Ensembl chr 8:59,609,693...59,629,133
|
|
G |
Cntf |
ciliary neurotrophic factor |
susceptibility |
ISO |
|
RGD |
PMID:11951178 |
RGD:734796 |
NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
|
|
G |
Ctsh |
cathepsin H |
|
ISO |
mRNA, protein:increased expression:spinal cord |
RGD |
PMID:17583678 |
RGD:5686391 |
NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
|
|
G |
Dao |
D-amino-acid oxidase |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr12:48,353,691...48,373,647
Ensembl chr12:48,354,196...48,365,784
|
|
G |
Dbr1 |
debranching RNA lariats 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23104007 |
|
NCBI chr 8:107,826,690...107,838,186
Ensembl chr 8:107,826,424...107,838,339
|
|
G |
Dctn1 |
dynactin subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to |
ClinVar |
PMID:15326253 PMID:16240349 PMID:17824900 PMID:18812314 PMID:19506225 PMID:22777741 PMID:23143281 PMID:25025039 PMID:25382069 PMID:25741868 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:28130640 PMID:28430856 PMID:28492532 PMID:28717666 |
|
NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
|
|
G |
Ddx20 |
DEAD-box helicase 20 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:208,144,142...208,154,764
Ensembl chr 2:208,144,139...208,152,179
|
|
G |
Dnajc7 |
DnaJ heat shock protein family (Hsp40) member C7 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr10:88,498,271...88,533,730
Ensembl chr10:88,498,238...88,533,829
|
|
G |
Dnmt3a |
DNA methyltransferase 3 alpha |
|
ISO |
protein:decreased expression:mitochondrion: |
RGD |
PMID:24399935 |
RGD:9589066 |
NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
|
|
G |
Dpp6 |
dipeptidyl peptidase like 6 |
no_association |
ISO |
DNA:SNP:intron:rs10260404 (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18084291, PMID:18708572, PMID:20137488 |
RGD:5687188, RGD:5687181 |
NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
|
|
G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
|
ISO |
protein:increased expression:spinal cord |
RGD |
PMID:12675919 |
RGD:2301741 |
NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
|
|
G |
Elp3 |
elongator acetyltransferase complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr15:48,942,866...49,005,074
Ensembl chr15:48,942,871...49,005,058
|
|
G |
Epg5 |
ectopic P-granules autophagy protein 5 homolog |
|
ISS |
|
MouseDO |
|
|
NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547
|
|
G |
Epo |
erythropoietin |
disease_progression |
ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:17368721 |
RGD:10395391 |
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
|
|
G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
|
|
G |
Ercc6l2 |
ERCC excision repair 6 like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30879219 |
|
NCBI chr17:1,325,654...1,421,732
Ensembl chr17:1,305,016...1,421,685
|
|
G |
Ewsr1 |
EWS RNA-binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr14:85,322,105...85,350,826
Ensembl chr14:85,322,296...85,350,948
|
|
G |
Fig4 |
FIG4 phosphoinositide 5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:17572665 PMID:18180444 PMID:18261132 PMID:18556664 PMID:19118816 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22131434 PMID:22998443 PMID:23489662 PMID:24878229 PMID:25510381 PMID:25617005 PMID:25741868 PMID:26467025 PMID:28051077 PMID:28492532 |
|
NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
|
|
G |
Fus |
FUS RNA binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30455313, PMID:22055719, PMID:21408206 |
RGD:5509900, RGD:9685710 |
NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
|
|
G |
Gdnf |
glial cell derived neurotrophic factor |
|
ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:10447463 |
RGD:6218978 |
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
|
|
G |
Gfap |
glial fibrillary acidic protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11723166 |
|
NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
|
|
G |
Gjc2 |
gap junction protein, gamma 2 |
|
ISO |
protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) |
RGD |
PMID:24597481 |
RGD:13208591 |
NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
|
|
G |
Gle1 |
GLE1 RNA export mediator |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 PMID:28884921 |
|
NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
|
|
G |
Got1 |
glutamic-oxaloacetic transaminase 1 |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:26113413 |
RGD:13506239 |
NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
|
|
G |
Grn |
granulin precursor |
disease_progression onset |
ISO |
protein:increased expression:spinal cord, microglia DNA:mutations: : |
RGD |
PMID:21107132, PMID:18184915, PMID:21107132 |
RGD:5509593, RGD:5509619, RGD:5509593 |
NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
|
|
G |
Gsk3a |
glycogen synthase kinase 3 alpha |
|
ISO |
|
RGD |
PMID:12675919 |
RGD:2301741 |
NCBI chr 1:82,097,244...82,108,238
Ensembl chr 1:82,097,247...82,108,203
|
|
G |
Gsk3b |
glycogen synthase kinase 3 beta |
|
ISO |
|
RGD |
PMID:12675919 |
RGD:2301741 |
NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
|
|
G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16681429 |
|
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
|
|
G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16109392 |
|
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
|
|
G |
Hdac4 |
histone deacetylase 4 |
severity |
ISO |
|
RGD |
PMID:23824486 |
RGD:9681450 |
NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
|
|
G |
Hes1 |
hes family bHLH transcription factor 1 |
|
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:26067594 |
RGD:13524575 |
NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
|
|
G |
Hey1 |
hes-related family bHLH transcription factor with YRPW motif 1 |
|
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:26067594 |
RGD:13524575 |
NCBI chr 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
|
|
G |
Hmgb1 |
high mobility group box 1 |
severity |
ISO |
|
RGD |
PMID:23639787 |
RGD:10402056 |
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
|
|
G |
Hnrnpk |
heterogeneous nuclear ribonucleoprotein K |
|
ISO |
protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) |
RGD |
PMID:19323997 |
RGD:10058964 |
NCBI chr17:6,664,730...6,676,753
Ensembl chr17:6,665,659...6,676,654
|
|
G |
Hrk |
harakiri, BCL2 interacting protein |
|
ISO |
|
RGD |
PMID:29440992 |
RGD:13506949 |
NCBI chr12:44,008,879...44,029,211
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
onset |
IEP |
mRNA:decreased expression:spinal cord (rat) |
RGD |
PMID:18683239 |
RGD:12904708 |
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
|
|
G |
Igf2r |
insulin-like growth factor 2 receptor |
|
IEP |
protein:increased expression:spinal cord, astrocyte |
RGD |
PMID:18441505 |
RGD:2311519 |
NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
|
|
G |
Itih4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
disease_progression |
IEP ISO |
protein:increased expression, increased processing:serum protein:increased processing:serum |
RGD |
PMID:23436019, PMID:23436019 |
RGD:40907060, RGD:40907060 |
NCBI chr16:6,970,367...6,985,538
Ensembl chr16:6,970,342...6,985,579
|
|
G |
Itpr2 |
inositol 1,4,5-trisphosphate receptor, type 2 |
susceptibility |
ISO |
DNA:snp:intron:g.26636386A>G rs2306677 (human) |
RGD |
PMID:17827064 |
RGD:6482791 |
NCBI chr 4:180,423,452...180,800,088
Ensembl chr 4:180,538,389...180,722,358
|
|
G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:26067594 |
RGD:13524575 |
NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
|
|
G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
|
IEP |
protein:decreased expression:brainstem |
RGD |
PMID:22987392 |
RGD:8662893 |
NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
|
|
G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:decreased expression:spinal cord |
RGD |
PMID:16410746 |
RGD:1580568 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
|
|
G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
ISO |
mRNA:increased expression:primary motor cortex (human) |
RGD |
PMID:18957896 |
RGD:6893397 |
NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
|
|
G |
Kif1b |
kinesin family member 1B |
onset |
IEP ISO |
mRNA:decreased expression:precentral gyrus (human) mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse) |
RGD |
PMID:17418584, PMID:24904291 |
RGD:12738468, RGD:12738469 |
NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
|
|
G |
Kif5a |
kinesin family member 5A |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
|
|
G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:21375368 |
RGD:5508417 |
NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
|
|
G |
Maml1 |
mastermind-like transcriptional coactivator 1 |
|
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:26067594 |
RGD:13524575 |
NCBI chr10:35,765,196...35,801,375
Ensembl chr10:35,765,719...35,800,120
|
|
G |
Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
|
ISO |
mRNA:increased expression:spinal cord |
RGD |
PMID:23851366 |
RGD:11561951 |
NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
|
|
G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
|
ISO |
protein:hyperphosphorylation:motor neuron: |
RGD |
PMID:15910777 |
RGD:10412312 |
NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
|
|
G |
Mapk14 |
mitogen activated protein kinase 14 |
|
ISO |
protein:hyperphosphorylation:motor neuron: |
RGD |
PMID:15910777 |
RGD:10412312 |
NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:19796283 |
RGD:7207054 |
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
severity |
ISO |
protein:increased expression:serum, cerebrospinal fluid (human) protein:increased expression:skin of body, spinal cord |
RGD |
PMID:19796283, PMID:20441996 |
RGD:7207054, RGD:13204793 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
protein:increased expression:serum, cerebrospinal fluid (human) protein:increased expression:skin of body, spinal cord |
RGD |
PMID:19796283, PMID:20441996 |
RGD:7207054, RGD:13204793 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
|
|
G |
Mobp |
myelin-associated oligodendrocyte basic protein |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
CTD ClinVar |
PMID:25741868 PMID:27455348 |
|
NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
|
|
G |
Mstn |
myostatin |
|
IMP |
|
RGD |
PMID:16837207 |
RGD:2303556 |
NCBI chr 9:53,310,977...53,315,804
Ensembl chr 9:53,309,598...53,315,915
|
|
G |
Mt1 |
metallothionein 1 |
|
ISO |
mRNA:increased expression:spinal cord (mouse) |
RGD |
PMID:16179515 |
RGD:6484130 |
NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
|
|
G |
Mt2A |
metallothionein 2A |
onset |
ISO |
mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) |
RGD |
PMID:18000159 |
RGD:6482832 |
NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
|
|
G |
Mt3 |
metallothionein 3 |
|
ISO |
|
RGD |
PMID:17097207, PMID:12388585, PMID:12417341 |
RGD:6480495, RGD:6480627, RGD:6480625 |
NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility no_association |
ISO |
DNA:polymorphism: :c.677C>T(human) |
RGD |
PMID:21128869, PMID:21868135 |
RGD:11565111, RGD:11565173 |
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
|
|
G |
Mtnr1a |
melatonin receptor 1A |
disease_progression |
ISO |
protein:decreased expression:spinal chord |
RGD |
PMID:23537713 |
RGD:13524569 |
NCBI chr16:50,339,358...50,358,809
Ensembl chr16:50,339,358...50,358,809
|
|
G |
Mtrex |
Mtr4 exosome RNA helicase |
|
ISO |
mRNA:increased expression:peripheral blood lymphocyte (human) |
RGD |
PMID:23006766 |
RGD:11041891 |
NCBI chr 2:44,726,716...44,787,013
Ensembl chr 2:44,717,781...44,786,963
|
|
G |
Nefh |
neurofilament heavy |
treatment |
ISO |
DNA:deletions:cds:multiple (human) ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868, PMID:9931323, PMID:10686419 |
RGD:1302518, RGD:13525000 |
NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
|
|
G |
Nefl |
neurofilament light |
treatment disease_progression |
ISO |
protein:increased expression:serum, csf |
RGD |
PMID:10686419, PMID:26273687 |
RGD:13525000, RGD:13525006 |
NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
|
|
G |
Nefm |
neurofilament medium |
|
IGI |
|
RGD |
PMID:16006557 |
RGD:9698444 |
NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
|
|
G |
Nek1 |
NIMA-related kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
CTD ClinVar |
PMID:25741868 PMID:26945885 PMID:27455347 |
|
NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
|
|
G |
Nfe2l2 |
nuclear factor, erythroid 2-like 2 |
treatment |
ISO |
mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) |
RGD |
PMID:18957896, PMID:22056419 |
RGD:6893397, RGD:10412690 |
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
protein:increased expression:spinal cord (mouse) |
RGD |
PMID:21867702 |
RGD:5509065 |
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:26067594 |
RGD:13524575 |
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
|
|
G |
Optn |
optineurin |
|
ISO |
protein:increased expression:spinal cord, neuron ClinVar Annotator: match by term: Amyotrophic lateral sclerosis CTD Direct Evidence: marker/mechanism DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human) DNA:missense mutations, nonsense mutation:cds, intron:multiple |
ClinVar CTD |
PMID:21059646 PMID:25096716 PMID:25741868, PMID:21825243, PMID:20428114, PMID:21613650 |
RGD:6480502, RGD:6480506, RGD:6480504 |
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
|
|
G |
Park7 |
Parkinsonism associated deglycase |
|
ISO |
ClinVar Annotator: match by term: Guam disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
|
|
G |
Pfn1 |
profilin 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
|
|
G |
Pgf |
placental growth factor |
|
ISO |
|
RGD |
PMID:22119626 |
RGD:6483573 |
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
|
|
G |
Pla2g4a |
phospholipase A2 group IVA |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15816863 |
|
NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
|
|
G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
|
|
G |
Pon1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
CTD ClinVar |
PMID:25741868 PMID:28070599 |
|
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
|
|
G |
Pon2 |
paraoxonase 2 |
|
ISO |
DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 (human) |
RGD |
PMID:16822964 |
RGD:5509925 |
NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
|
|
G |
Pon3 |
paraoxonase 3 |
|
ISO |
DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2 (human) ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 PMID:28492532, PMID:16822964 |
RGD:5509925 |
NCBI chr 4:30,311,981...30,338,679
Ensembl chr 4:30,311,982...30,338,679
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
human gene in mouse model mRNA:decreased expression:motor cortex, muscle (human) mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse) |
RGD |
PMID:22102466, PMID:23147503, PMID:23147503 |
RGD:6484265, RGD:7242019, RGD:7242019 |
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
|
|
G |
Ppp1r15a |
protein phosphatase 1, regulatory subunit 15A |
|
ISO |
protein:increased expression:spinal cord, astrocyte, microglia (mouse) |
RGD |
PMID:23118353 |
RGD:9999418 |
NCBI chr 1:101,511,899...101,515,043
Ensembl chr 1:101,511,901...101,514,974
|
|
G |
Prph |
peripherin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to |
ClinVar |
PMID:15322088 PMID:15446584 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:140,742,406...140,746,197
Ensembl chr 7:140,742,418...140,746,197
|
|
G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 1:84,978,220...84,986,536
Ensembl chr 1:84,978,206...84,986,581
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
protein:increased expression:spinal cord, neuron, glia CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11220737 PMID:15816863, PMID:14511332 |
RGD:5688235 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
|
|
G |
Ptprz1 |
protein tyrosine phosphatase, receptor type Z1 |
treatment |
IEP |
|
RGD |
PMID:25113670 |
RGD:9590123 |
NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
|
|
G |
Rara |
retinoic acid receptor, alpha |
|
IEP |
|
RGD |
PMID:17956549 |
RGD:2314289 |
NCBI chr10:86,838,819...86,884,224
Ensembl chr10:86,860,685...86,884,210
|
|
G |
RGD1359108 |
similar to RIKEN cDNA 3110043O21 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27713094 |
|
NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
|
|
G |
Rnase4 |
ribonuclease A family member 4 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,018,040...28,035,395
Ensembl chr15:28,018,040...28,035,389 Ensembl chr15:28,018,040...28,035,389
|
|
G |
Runx1 |
RUNX family transcription factor 1 |
|
ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:18000159 |
RGD:6482832 |
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
|
|
G |
Sarm1 |
sterile alpha and TIR motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,742,343...65,766,050
Ensembl chr10:65,742,343...65,766,050
|
|
G |
Scfd1 |
sec1 family domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
CTD ClinVar |
PMID:25741868 PMID:27455348 |
|
NCBI chr 6:72,124,408...72,202,703
Ensembl chr 6:72,124,417...72,202,713
|
|
G |
Serpinf1 |
serpin family F member 1 |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:12067231 |
RGD:8554892 |
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
|
|
G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24885036 |
|
NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
|
|
G |
Sirt1 |
sirtuin 1 |
|
ISO |
protein:increased expression:spinal cord (mouse) |
RGD |
PMID:17581637 |
RGD:2290573 |
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
|
|
G |
Slc11a2 |
solute carrier family 11 member 2 |
onset |
ISO |
DNA:SNP: :rs407135 (human) |
RGD |
PMID:21276595 |
RGD:5688710 |
NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
|
|
G |
Slc1a2 |
solute carrier family 1 member 2 |
|
ISO |
mRNA:processing errors:spinal cord, motor cortex (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11723166, PMID:9539131 |
RGD:1302517 |
NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
|
|
G |
Slc31a1 |
solute carrier family 31 member 1 |
disease_progression |
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:19656261 |
RGD:13524567 |
NCBI chr 5:78,222,504...78,249,358
Ensembl chr 5:78,222,504...78,249,358
|
|
G |
Slc6a1 |
solute carrier family 6 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20132478 |
|
NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
|
|
G |
Sod1 |
superoxide dismutase 1 |
treatment |
ISO |
human gene in a rat model;DNA:missense mutation:cds:p.G93A (human) ClinVar Annotator: match by term: Amyotrophic lateral sclerosis CTD Direct Evidence: marker/mechanism protein:increased expression:cerebrospinal fluid (human) |
ClinVar CTD |
PMID:7887412 PMID:9065559 PMID:10025816 PMID:10930589 PMID:11220737 PMID:11590119 PMID:11723166 PMID:12586733 PMID:12626432 PMID:16495328 PMID:17097207 PMID:17319283 PMID:17496168 PMID:18233996 PMID:19635794 PMID:19929749 PMID:20132483 PMID:20177826 PMID:20348957 PMID:20515040 PMID:21867702 PMID:23583883 PMID:24885036 PMID:25164820 PMID:25741868 PMID:30503815, PMID:18947433, PMID:26826269, PMID:23147550 |
RGD:2312367, RGD:13524551, RGD:8655880 |
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8866423 |
|
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
|
|
G |
Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:18337587 PMID:22696581 PMID:23733235 PMID:24833714 PMID:25588603 PMID:25741868 PMID:26467025 PMID:27884173 PMID:27904835 PMID:28130640 PMID:28492532 |
|
NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
|
|
G |
Sqstm1 |
sequestosome 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis mRNA:increased expression:spinal cord |
CTD ClinVar |
PMID:19765191 PMID:25741868 PMID:28492532, PMID:23851366 |
RGD:11561951 |
NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
|
|
G |
Ss18l1 |
SS18L1 subunit of BAF chromatin remodeling complex |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:175,426,754...175,445,222
Ensembl chr 3:175,426,752...175,445,222
|
|
G |
Steap2 |
STEAP2 metalloreductase |
disease_progression |
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:19656261 |
RGD:13524567 |
NCBI chr 4:25,506,604...25,527,088
Ensembl chr 4:25,507,463...25,527,087
|
|
G |
Tardbp |
TAR DNA binding protein |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds: DNA:mutation:cds:p.G295S(human) protein:increased phosphorylation:brain DNA:mutation:cds:p.M337V(human) |
CTD |
PMID:18372902 PMID:21167262 PMID:22879928 PMID:23104007 PMID:24019256 PMID:24252504, PMID:21752789, PMID:18372902, PMID:21651514, PMID:17023659, PMID:18309045, PMID:21998667 |
RGD:5687134, RGD:5687192, RGD:5687173, RGD:5687158, RGD:5687157, RGD:5687137 |
NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
|
|
G |
Tfam |
transcription factor A, mitochondrial |
severity |
ISO |
|
RGD |
PMID:22354563 |
RGD:6767572 |
NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:spinal cord |
RGD |
PMID:13678668 |
RGD:12904653 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
|
|
G |
Tnfrsf21 |
TNF receptor superfamily member 21 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24113175 |
|
NCBI chr 9:20,546,159...20,621,051
Ensembl chr 9:20,546,159...20,621,051
|
|
G |
Tnip1 |
TNFAIP3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr10:40,255,776...40,303,092
Ensembl chr10:40,255,776...40,296,470
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17434459 |
|
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to |
ClinVar |
PMID:16051700 PMID:19405049 PMID:25741868 |
|
NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
|
|
G |
Txnrd1 |
thioredoxin reductase 1 |
susceptibility |
ISO |
DNA:SNPs:intron:rs6539137, rs4630362 (human) |
RGD |
PMID:18996185 |
RGD:5685032 |
NCBI chr 7:26,946,124...26,984,400
Ensembl chr 7:26,946,125...26,984,400
|
|
G |
Ubqln2 |
ubiquilin 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:21857683 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 PMID:28492532, PMID:21857683 |
RGD:5147832 |
NCBI chr X:18,723,313...18,726,732
Ensembl chr X:18,723,341...18,726,732
|
|
G |
Unc13a |
unc-13 homolog A |
no_association |
ISO |
DNA:SNP:intron:rs12608932 (human) ClinVar Annotator: match by term: Amyotrophic lateral sclerosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:19734901 PMID:25741868, PMID:20385924, PMID:19734901 |
RGD:5686382, RGD:5686384 |
NCBI chr16:20,056,398...20,103,951
Ensembl chr16:20,056,765...20,097,287
|
|
G |
Vapb |
VAMP associated protein B and C |
|
ISO |
DNA:missense mutation:cds:p.P56S (human) ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, typical |
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:23333387 PMID:23446633 PMID:23771029 PMID:24212516 PMID:24681403 PMID:26467025 PMID:26566915 PMID:27978769 PMID:28492532, PMID:15372378 |
RGD:5688230 |
NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:15034582 PMID:20604808 PMID:22270372 PMID:22909335 PMID:23333620 PMID:25617006 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
|
|
G |
Vdr |
vitamin D receptor |
susceptibility |
ISO |
DNA:SNP:intron:rs7975232(human) |
RGD |
PMID:26190642 |
RGD:11560790 |
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:16410746 |
RGD:1580568 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
|
|
G |
Zfp106 |
zinc finger protein 106 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 3:112,279,782...112,330,288
Ensembl chr 3:112,283,112...112,320,762
|
|
|
G |
Bcl2l1 |
Bcl2-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
|
|
G |
Bsg |
basigin (Ok blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 7:12,875,536...12,882,753
Ensembl chr 7:12,875,537...12,882,753
|
|
G |
Calb2 |
calbindin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr19:41,482,743...41,509,617
Ensembl chr19:41,482,728...41,509,658
|
|
G |
Casp1 |
caspase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
|
|
G |
Cd68 |
Cd68 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
|
|
G |
Cd7 |
Cd7 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr10:110,229,931...110,232,812
Ensembl chr10:110,229,922...110,232,843
|
|
G |
Clu |
clusterin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
|
|
G |
Cntf |
ciliary neurotrophic factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11951178 |
|
NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
|
|
G |
Crebbp |
CREB binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
|
|
G |
Cst3 |
cystatin C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
|
|
G |
Ctsd |
cathepsin D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
|
|
G |
Dbx1 |
developing brain homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 1:104,969,218...104,973,648
Ensembl chr 1:104,969,218...104,973,648
|
|
G |
Dctn1 |
dynactin subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL |
OMIM ClinVar |
PMID:12062019 PMID:12627231 PMID:15326253 PMID:16240349 PMID:16505168 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:23881933 PMID:24484619 PMID:24627108 PMID:24881494 PMID:25025039 PMID:25299611 PMID:25382069 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28430856 PMID:28492532 PMID:28717666 PMID:28792508 PMID:29089398 PMID:29339765 PMID:29525180 |
|
NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
|
|
G |
Fancg |
FA complementation group G |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
|
|
G |
Fgf6 |
fibroblast growth factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 4:159,563,798...159,572,333
Ensembl chr 4:159,563,798...159,572,333
|
|
G |
Fig4 |
FIG4 phosphoinositide 5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
|
|
NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
|
|
G |
Fmo1 |
flavin containing dimethylaniline monoxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17127561 |
|
NCBI chr13:80,712,885...80,745,095
Ensembl chr13:80,712,882...80,745,347
|
|
G |
Folh1 |
folate hydrolase 1 |
treatment |
ISO |
|
RGD |
PMID:12876198 |
RGD:737756 |
NCBI chr 1:150,323,768...150,395,415
Ensembl chr 1:150,323,768...150,395,415
|
|
G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
|
|
G |
Fus |
FUS RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
|
|
NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
|
|
G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
|
|
G |
Gbx2 |
gastrulation brain homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 9:97,063,265...97,065,855
Ensembl chr 9:97,063,728...97,065,817
|
|
G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr X:156,400,734...156,407,396
Ensembl chr X:156,400,736...156,407,404
|
|
G |
Gfap |
glial fibrillary acidic protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
|
|
G |
Gria3 |
glutamate ionotropic receptor AMPA type subunit 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15264227 |
|
NCBI chr X:127,561,843...127,829,763
Ensembl chr X:127,562,660...127,829,753
|
|
G |
Gsx2 |
GS homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr14:35,650,985...35,652,709
Ensembl chr14:35,650,985...35,652,709
|
|
G |
Hsf1 |
heat shock transcription factor 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24256636 |
|
NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
|
|
G |
Ina |
internexin neuronal intermediate filament protein, alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 1:266,782,835...266,794,389
Ensembl chr 1:266,781,617...266,794,431
|
|
G |
Jak3 |
Janus kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
|
|
G |
Jund |
JunD proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr16:20,485,028...20,486,707
Ensembl chr16:20,485,029...20,486,707
|
|
G |
Kif3c |
kinesin family member 3C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 6:27,768,943...27,815,611
Ensembl chr 6:27,768,943...27,815,611
|
|
G |
Kif5a |
kinesin family member 5A |
|
ISO |
mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) |
RGD |
PMID:23006449 |
RGD:12798528 |
NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
|
|
G |
Kif5c |
kinesin family member 5C |
|
ISO |
mRNA:increased expression:frontal cortex, cerebellum (mouse) |
RGD |
PMID:23006449 |
RGD:12798528 |
NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
|
|
G |
Lat |
linker for activation of T cells |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 1:197,765,644...197,770,669
Ensembl chr 1:197,765,644...197,770,669
|
|
G |
Ldlr |
low density lipoprotein receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
|
|
G |
Masp2 |
mannan-binding lectin serine peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
PMID:24033266 PMID:28492532 |
|
NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
|
|
G |
Mt1 |
metallothionein 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24163136 |
|
NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
|
|
G |
Nefh |
neurofilament heavy |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
|
|
G |
Otog |
otogelin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 1:102,258,124...102,327,201
Ensembl chr 1:102,258,124...102,327,201
|
|
G |
Pdgfa |
platelet derived growth factor subunit A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
|
|
G |
Penk |
proenkephalin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
|
|
G |
Pon1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17204329 |
|
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
|
|
G |
Prph |
peripherin |
|
ISO |
|
OMIM |
|
|
NCBI chr 7:140,742,406...140,746,197
Ensembl chr 7:140,742,418...140,746,197
|
|
G |
Rxra |
retinoid X receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
|
|
G |
Selplg |
selectin P ligand |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr12:48,577,905...48,579,196
Ensembl chr12:48,577,905...48,579,196
|
|
G |
Serpina3n |
serine (or cysteine) peptidase inhibitor, clade A, member 3N |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 6:128,073,344...128,080,878
Ensembl chr 6:127,941,526...128,080,889
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
|
|
G |
Shc1 |
SHC adaptor protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
|
|
G |
Six2 |
SIX homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 6:8,952,572...8,955,893
Ensembl chr 6:8,952,572...8,956,276
|
|
G |
Snai1 |
snail family transcriptional repressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 3:164,274,710...164,279,199
Ensembl chr 3:164,274,710...164,279,378
|
|
G |
Sncg |
synuclein, gamma |
|
ISS |
OMIM:105400 |
MouseDO |
|
|
NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
|
|
G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar Annotator: match by OMIM:105400 DNA:missense mutation:cds:p.D90A (human) DNA:missense mutations:cds:multiple (human) DNA:missense mutation:cds:p.I113T (human) |
OMIM ClinVar CTD |
PMID:1259395 PMID:7496169 PMID:7501156 PMID:7635196 PMID:7643359 PMID:7647793 PMID:7655469 PMID:7655471 PMID:7673954 PMID:7755363 PMID:7836951 PMID:7887412 PMID:7891072 PMID:7911198 PMID:7951249 PMID:7985500 PMID:7997024 PMID:8004110 PMID:8058797 PMID:8069312 PMID:8105280 PMID:8179602 PMID:8298637 PMID:8351519 PMID:8446170 PMID:8528216 PMID:8560268 PMID:8572658 PMID:8650157 PMID:8682505 PMID:8813280 PMID:8830861 PMID:8875253 PMID:8900247 PMID:8909456 PMID:8938700 PMID:8967745 PMID:8990014 PMID:9008494 PMID:9029070 PMID:9052802 PMID:9101297 PMID:9228005 PMID:9365366 PMID:9455977 PMID:9506558 PMID:9706719 PMID:9743498 PMID:9817920 PMID:9857958 PMID:10400992 PMID:10430435 PMID:10439968 PMID:10624810 PMID:10732812 PMID:10735277 PMID:10764647 PMID:10809943 PMID:10889018 PMID:11181815 PMID:11220750 PMID:11284995 PMID:11346368 PMID:11369193 PMID:11464950 PMID:11467054 PMID:11675877 PMID:11676987 PMID:11796754 PMID:11951178 PMID:12127151 PMID:12165567 PMID:12358759 PMID:12402272 PMID:12442272 PMID:12482932 PMID:12729761 PMID:12732844 PMID:12783432 PMID:12792143 PMID:12963370 PMID:13129804 PMID:13804989 PMID:14506936 PMID:14623191 PMID:14658402 PMID:14755739 PMID:14875225 PMID:14970233 PMID:15056757 PMID:15069187 PMID:15096637 PMID:15258228 PMID:15264227 PMID:15522870 PMID:15579468 PMID:15634772 PMID:15843422 PMID:15952898 PMID:15987780 PMID:16020530 PMID:16038516 PMID:16105836 PMID:16291929 PMID:16476815 PMID:16674979 PMID:16793335 PMID:16945901 PMID:17146286 PMID:17255946 PMID:17257622 PMID:17319283 PMID:17333220 PMID:17394531 PMID:17420412 PMID:17453632 PMID:17486090 PMID:17543992 PMID:17888947 PMID:18055113 PMID:18301754 PMID:18319614 PMID:18428003 PMID:18504130 PMID:18608106 PMID:18666828 PMID:18669821 PMID:18951903 PMID:19139308 PMID:19176896 PMID:19196430 PMID:19227972 PMID:19259395 PMID:19332692 PMID:19363716 PMID:19483195 PMID:19618436 PMID:19635794 PMID:19685200 PMID:19703565 PMID:19751676 PMID:19800308 PMID:19815002 PMID:19847927 PMID:19922148 PMID:19965850 PMID:20079423 PMID:20184515 PMID:20184519 PMID:20184521 PMID:20184893 PMID:20189984 PMID:20309572 PMID:20385392 PMID:20399791 PMID:20404329 PMID:20404910 PMID:20460594 PMID:20472325 PMID:20485746 PMID:20540686 PMID:20562451 PMID:20577002 PMID:20801718 PMID:21140194 PMID:21226712 PMID:21257910 PMID:21329474 PMID:21506602 PMID:21549128 PMID:21549454 PMID:21603025 PMID:21651514 PMID:21700707 PMID:21700728 PMID:21901496 PMID:21930207 PMID:22094223 PMID:22264771 PMID:22292843 PMID:22332887 PMID:22475618 PMID:22499346 PMID:22589106 PMID:22595972 PMID:22645277 PMID:22647583 PMID:22670878 PMID:22722621 PMID:22941224 PMID:22985433 PMID:23062701 PMID:23100398 PMID:23118898 PMID:23280792 PMID:23286750 PMID:23291526 PMID:23321002 PMID:23447461 PMID:23541756 PMID:23612299 PMID:23726301 PMID:23760509 PMID:23773010 PMID:23784844 PMID:23792044 PMID:23837654 PMID:23881933 PMID:23949607 PMID:23962495 PMID:24134191 PMID:24139042 PMID:24163136 PMID:24256636 PMID:24325798 PMID:24369116 PMID:24439480 PMID:24472010 PMID:24591457 PMID:24704493 PMID:24769475 PMID:24793051 PMID:24908169 PMID:24971881 PMID:25025039 PMID:25052939 PMID:25096579 PMID:25109764 PMID:25178511 PMID:25299611 PMID:25382069 PMID:25509359 PMID:25578810 PMID:25600987 PMID:25741868 PMID:25792239 PMID:25806427 PMID:26059445 PMID:26069299 PMID:26362407 PMID:26467025 PMID:26694608 PMID:26742954 PMID:26791423 PMID:26843957 PMID:27257061 PMID:27261500 PMID:27584932 PMID:27604643 PMID:27810918 PMID:27884173 PMID:27978769 PMID:28003435 PMID:28089114 PMID:28089144 PMID:28105640 PMID:28222900 PMID:28291249 PMID:28325066 PMID:28401346 PMID:28430856 PMID:28492532 PMID:28620717 PMID:28642336 PMID:28877271 PMID:29367447 PMID:29861044 PMID:30637102, PMID:10809943, PMID:8815157, PMID:20184521, PMID:8446170 |
RGD:8655873, RGD:8655862, RGD:8655618, RGD:737689 |
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISS |
OMIM:105400 |
MouseDO |
|
|
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
|
|
G |
Tardbp |
TAR DNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 PMID:24033266 PMID:24477737 PMID:26467025 PMID:28492532 |
|
NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
|
|
G |
Tiam1 |
TIAM Rac1 associated GEF 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr11:29,931,083...30,061,173
Ensembl chr11:29,933,163...30,051,103
|
|
G |
Tle3 |
TLE family member 3, transcriptional corepressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 8:66,296,509...66,342,186
Ensembl chr 8:66,296,883...66,342,176
|
|
G |
Tmsb4x |
thymosin beta 4, X-linked |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr X:28,593,405...28,617,267
Ensembl chr X:28,593,405...28,595,395
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
|
|
G |
Ubqln2 |
ubiquilin 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr X:18,723,313...18,726,732
Ensembl chr X:18,723,341...18,726,732
|
|
G |
Vapb |
VAMP associated protein B and C |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
|
|
NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISS |
OMIM:105400 |
MouseDO |
|
|
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
|
|
G |
Vim |
vimentin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
|
|
G |
Vps54 |
VPS54 subunit of GARP complex |
|
ISS |
OMIM:105400 |
MouseDO |
|
|
NCBI chr14:106,153,407...106,207,715
Ensembl chr14:106,153,575...106,207,658
|
|
G |
Wnt7a |
Wnt family member 7A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
|
|
G |
Xiap |
X-linked inhibitor of apoptosis |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr X:128,409,425...128,455,786
Ensembl chr X:128,409,472...128,453,000
|
|
|
G |
Masp2 |
mannan-binding lectin serine peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 |
ClinVar |
|
|
NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
|
|
G |
Tardbp |
TAR DNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED ClinVar Annotator: match by OMIM:612069 |
OMIM ClinVar |
PMID:18068872 PMID:18288693 PMID:18309045 PMID:18372902 PMID:18396105 PMID:18438952 PMID:18505686 PMID:18545701 PMID:18779421 PMID:18802454 PMID:18931000 PMID:19204172 PMID:19224587 PMID:19228676 PMID:19236453 PMID:19350673 PMID:19411082 PMID:19429692 PMID:19465477 PMID:19515851 PMID:19609911 PMID:19618195 PMID:19695877 PMID:19760257 PMID:19786775 PMID:19808791 PMID:19864663 PMID:19959528 PMID:20031275 PMID:20082726 PMID:20154440 PMID:20301761 PMID:20472325 PMID:20555136 PMID:20558945 PMID:20577002 PMID:20600671 PMID:20624952 PMID:20645878 PMID:20675015 PMID:20697052 PMID:20708823 PMID:20806063 PMID:21123567 PMID:21173160 PMID:21220647 PMID:21403029 PMID:21438137 PMID:21752789 PMID:21829392 PMID:22406069 PMID:22456481 PMID:22539580 PMID:22563080 PMID:22575358 PMID:22645277 PMID:23231971 PMID:23235148 PMID:23327806 PMID:23345247 PMID:23401527 PMID:23457265 PMID:23827948 PMID:24117534 PMID:24143176 PMID:24300238 PMID:24477737 PMID:24507191 PMID:25442115 PMID:25588603 PMID:25741868 PMID:26096467 PMID:26467025 PMID:26777436 PMID:26883171 PMID:28089114 PMID:28286471 PMID:28335005 PMID:28430856 PMID:28492532 PMID:28709720 PMID:28889094 PMID:31124595 |
|
NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
|
|
|
G |
Fig4 |
FIG4 phosphoinositide 5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11 ClinVar Annotator: match by OMIM:612577 |
OMIM ClinVar |
PMID:17572665 PMID:18180444 PMID:18261132 PMID:18556664 PMID:19118816 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22131434 PMID:22998443 PMID:23336365 PMID:23489662 PMID:24878229 PMID:25510381 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26467025 PMID:28051077 PMID:28492532 PMID:29342275 PMID:29650794 |
|
NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
|
|
|
G |
Optn |
optineurin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 |
OMIM ClinVar |
PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 PMID:12939304 PMID:14597044 PMID:15226658 PMID:15326130 PMID:15761120 PMID:16205626 PMID:16358725 PMID:16619239 PMID:17122126 PMID:17293779 PMID:17615537 PMID:19096531 PMID:19145250 PMID:19172505 PMID:19672125 PMID:20428114 PMID:20671613 PMID:20981092 PMID:21074290 PMID:21217154 PMID:21220178 PMID:21550138 PMID:21613650 PMID:21852022 PMID:22402017 PMID:22708870 PMID:22892313 PMID:22995991 PMID:23062601 PMID:25333069 PMID:25741868 PMID:25943890 PMID:26467025 PMID:26566915 PMID:28492532 PMID:29650794 |
|
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
|
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 ClinVar Annotator: match by OMIM:613954 |
OMIM ClinVar |
PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17763460 PMID:17889967 PMID:18341608 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:21145000 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:26105173 PMID:26467025 PMID:26555887 PMID:27209344 PMID:27226613 PMID:27538664 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28430856 PMID:28492532 PMID:28692196 PMID:29754758 PMID:29899994 PMID:31848255 |
|
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
|
|
|
G |
Ubqln2 |
ubiquilin 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia ClinVar Annotator: match by OMIM:300857 |
OMIM ClinVar |
PMID:21857683 PMID:24771548 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 PMID:28492532 |
|
NCBI chr X:18,723,313...18,726,732
Ensembl chr X:18,723,341...18,726,732
|
|
|
G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 16, juvenile ClinVar Annotator: match by OMIM:614373 |
OMIM ClinVar |
PMID:21842496 PMID:24088041 PMID:25704016 PMID:25741868 PMID:26205306 PMID:26633545 PMID:28492532 |
|
NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
|
|
|
G |
Chmp2b |
charged multivesicular body protein 2B |
|
ISO ISS |
ClinVar Annotator: match by OMIM:614696 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 17 |
ClinVar MouseDO |
PMID:16431024 PMID:16807408 PMID:16941655 PMID:20352044 PMID:20592581 PMID:21222599 PMID:25741868 PMID:26836416 PMID:28430856 PMID:28492532 PMID:29431110 PMID:29525180 |
|
NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
|
|
|
G |
Pfn1 |
profilin 1 |
|
ISO |
ClinVar Annotator: match by OMIM:614808 |
OMIM ClinVar |
PMID:22801503 |
|
NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
|
|
|
G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 19 ClinVar Annotator: match by OMIM:615515 |
OMIM ClinVar |
PMID:24119685 PMID:25741868 |
|
NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
|
|
|
G |
Hnrnpa1 |
heterogeneous nuclear ribonucleoprotein A1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 20 |
OMIM ClinVar |
PMID:23455423 |
|
NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
|
|
|
G |
Matr3 |
matrin 3 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21 ClinVar Annotator: match by term: Myopathy, distal, 2 ClinVar Annotator: match by OMIM:606070 |
OMIM ClinVar |
PMID:9837826 PMID:19344878 PMID:24686783 PMID:25154462 PMID:25185957 PMID:25677933 PMID:25741868 PMID:25771394 PMID:25952333 PMID:26467025 PMID:26493020 PMID:26528920 PMID:26780671 PMID:28492532 PMID:29525178 |
|
NCBI chr18:28,351,691...28,390,764
Ensembl chr18:28,361,283...28,390,717
|
|
|
G |
Tuba4a |
tubulin, alpha 4A |
|
ISO |
ClinVar Annotator: match by OMIM:616208 |
OMIM ClinVar |
PMID:25374358 |
|
NCBI chr 9:82,415,599...82,419,918
Ensembl chr 9:82,415,605...82,419,288
|
|
|
G |
Anxa11 |
annexin A11 |
|
ISO |
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 23 |
ClinVar OMIM |
PMID:28469040 |
|
NCBI chr16:3,867,193...3,912,043
Ensembl chr16:3,867,208...3,912,148
|
|
|
G |
Nek1 |
NIMA-related kinase 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 |
ClinVar OMIM |
PMID:21211617 PMID:22499340 PMID:23757202 PMID:24033266 PMID:25741868 PMID:26945885 PMID:27455347 PMID:28089114 PMID:28123176 PMID:28492532 PMID:29068549 |
|
NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
|
|
|
G |
Kif5a |
kinesin family member 5A |
susceptibility |
ISO |
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 |
ClinVar OMIM |
PMID:29342275 PMID:29566793 |
|
NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
|
|
|
G |
Tia1 |
TIA1 cytotoxic granule-associated RNA binding protein |
|
ISO |
|
OMIM |
|
|
NCBI chr 4:118,207,845...118,238,246
Ensembl chr 4:118,207,862...118,235,218
|
|
|
G |
Fus |
FUS RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 DNA:mutations:cds: ClinVar Annotator: match by OMIM:608030 |
OMIM ClinVar |
PMID:12840784 PMID:12858291 PMID:19251627 PMID:19251628 PMID:19450904 PMID:19741215 PMID:19861302 PMID:20018407 PMID:20124201 PMID:20138404 PMID:20142531 PMID:20385912 PMID:20544928 PMID:20577002 PMID:20579074 PMID:20606625 PMID:20660363 PMID:20668259 PMID:20668261 PMID:20699327 PMID:21158017 PMID:21261515 PMID:21280085 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21943958 PMID:21949354 PMID:22055719 PMID:22292843 PMID:22340366 PMID:22645277 PMID:22722621 PMID:22863194 PMID:22980027 PMID:23046859 PMID:23056579 PMID:23085990 PMID:23577159 PMID:23731953 PMID:23834483 PMID:23881933 PMID:24033266 PMID:24080306 PMID:24204307 PMID:24262168 PMID:24280224 PMID:24439481 PMID:24899262 PMID:24908169 PMID:25173930 PMID:25274782 PMID:25289647 PMID:25324524 PMID:25382069 PMID:25457557 PMID:25585530 PMID:25625564 PMID:25631824 PMID:25741868 PMID:26251528 PMID:26452761 PMID:26467025 PMID:26601740 PMID:26725112 PMID:26795035 PMID:27123482 PMID:28273913 PMID:28492532 PMID:28642336 PMID:30279455 PMID:30349096 PMID:30879340, PMID:19251628 |
RGD:9685712 |
NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia |
ClinVar |
PMID:30103325 |
|
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
|
|
|
G |
Apcdd1l |
APC down-regulated 1 like |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:171,879,728...171,958,155
Ensembl chr 3:171,878,143...171,957,996
|
|
G |
Atp5f1e |
ATP synthase F1 subunit epsilon |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,563,105...172,566,007
Ensembl chr 3:172,563,105...172,566,010
|
|
G |
Ctsz |
cathepsin Z |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,527,107...172,537,877
Ensembl chr 3:172,527,107...172,537,877
|
|
G |
Edn3 |
endothelin 3 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
|
|
G |
Gnas |
GNAS complex locus |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
|
|
G |
Mir296 |
microRNA 296 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,357,490...172,357,567
Ensembl chr 3:172,357,490...172,357,567
|
|
G |
Mir298 |
microRNA 298 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,357,943...172,358,024
Ensembl chr 3:172,357,943...172,358,024
|
|
G |
Nelfcd |
negative elongation factor complex member C/D |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,510,840...172,527,118
Ensembl chr 3:172,510,874...172,526,740
|
|
G |
Npepl1 |
aminopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,195,115...172,207,685
Ensembl chr 3:172,195,844...172,207,685
|
|
G |
Prelid3b |
PRELI domain containing 3B |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,567,092...172,574,382
Ensembl chr 3:172,567,732...172,574,333
|
|
G |
Stx16 |
syntaxin 16 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,154,739...172,183,699
Ensembl chr 3:172,154,754...172,183,732
|
|
G |
Tubb1 |
tubulin, beta 1 class VI |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
|
|
G |
Vapb |
VAMP associated protein B and C |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar Annotator: match by OMIM:608627 |
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:20940299 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:26362251 PMID:26467025 PMID:26566915 PMID:27978769 PMID:28492532 |
|
NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
|
|
G |
Zfp831 |
zinc finger protein 831 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:172,691,455...172,804,804
Ensembl chr 3:172,692,452...172,804,916
|
|
|
G |
Ang |
angiogenin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 ClinVar Annotator: match by OMIM:611895 |
OMIM ClinVar |
PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 PMID:18087731 PMID:18852347 PMID:19153377 PMID:19363631 PMID:19444281 PMID:19449021 PMID:19488901 PMID:20577002 PMID:22190368 PMID:22292843 PMID:22384259 PMID:22499346 PMID:22522484 PMID:22645277 PMID:23047679 PMID:23155438 PMID:23447461 PMID:23463871 PMID:23665167 PMID:25382069 PMID:25741868 PMID:26255299 PMID:26467025 PMID:28444446 PMID:28492532 |
|
NCBI chr15:28,022,926...28,028,636
|
|
G |
Rnase4 |
ribonuclease A family member 4 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 9 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 |
ClinVar |
PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 PMID:18087731 PMID:18852347 PMID:19153377 PMID:19363631 PMID:19444281 PMID:19449021 PMID:19488901 PMID:20577002 PMID:22190368 PMID:22292843 PMID:22384259 PMID:22499346 PMID:22522484 PMID:22645277 PMID:23047679 PMID:23155438 PMID:23447461 PMID:23463871 PMID:23665167 PMID:25382069 PMID:25741868 PMID:26255299 PMID:26467025 PMID:28444446 PMID:28492532 |
|
NCBI chr15:28,018,040...28,035,395
Ensembl chr15:28,018,040...28,035,389 Ensembl chr15:28,018,040...28,035,389
|
|
|
G |
Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
|
|
G |
Optn |
optineurin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive |
ClinVar |
|
|
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
|
|
|
G |
Park7 |
Parkinsonism associated deglycase |
|
ISO |
ClinVar Annotator: match by term: Guam disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
|
|
G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
susceptibility no_association |
ISO |
DNA:mutation:cds: p.T1482I (human) CTD Direct Evidence: marker/mechanism |
CTD OMIM |
PMID:16051700, PMID:19405049 |
RGD:5685005, RGD:5685008 |
NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
|
|
|
G |
Kif1b |
kinesin family member 1B |
|
ISO |
ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
|
|
G |
Vapb |
VAMP associated protein B and C |
|
ISO |
ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type |
OMIM ClinVar |
PMID:15372378 PMID:16187141 PMID:16967488 PMID:17804640 PMID:18322265 PMID:18677189 PMID:19183264 PMID:20008544 PMID:20377183 PMID:20447143 PMID:20577002 PMID:21275991 PMID:21685205 PMID:21933185 PMID:22131369 PMID:22258555 PMID:22454507 PMID:22878164 PMID:23333387 PMID:23446633 PMID:23771029 PMID:23971766 PMID:24212516 PMID:24681403 PMID:25741868 PMID:26467025 PMID:26566915 PMID:27978769 PMID:28492532 |
|
NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
|
|
|
G |
Bicd2 |
BICD cargo adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:24336790 PMID:25497877 PMID:25741868 PMID:26467025 PMID:27549087 PMID:27784775 PMID:28251916 PMID:28492532 PMID:28832565 PMID:32581362 |
|
NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
|
|
G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:25326635 PMID:25609763 PMID:25741868 |
|
NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
|
|
G |
Fig4 |
FIG4 phosphoinositide 5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
|
|
NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
|
|
G |
Gars |
glycyl-tRNA synthetase |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:17101916 PMID:22462675 PMID:25168514 |
|
NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
|
|
G |
Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:22157136 PMID:23449687 PMID:23566544 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24342282 PMID:24388491 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26467025 PMID:26709713 PMID:27450922 PMID:28492532 |
|
NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
|
|
G |
Lmna |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:25886484 PMID:28492532 |
|
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
|
|
G |
Morc2 |
MORC family CW-type zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:26659848 PMID:28492532 |
|
NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
|
|
G |
Nefl |
neurofilament light |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
|
|
NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:19696032 PMID:22088787 PMID:26467025 PMID:28492532 |
|
NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21454511 PMID:22065612 PMID:22291064 PMID:22526352 PMID:22702953 PMID:24319099 PMID:24789864 PMID:25741868 PMID:26048687 PMID:26467025 PMID:26948711 PMID:28492532 |
|
NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
|
|
|
G |
Slc52a2 |
solute carrier family 52 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
|
|
G |
Slc52a3 |
solute carrier family 52 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
|
|
|
G |
Slc52a2 |
solute carrier family 52 member 2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
|
|
G |
Slc52a3 |
solute carrier family 52 member 3 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 |
ClinVar OMIM |
PMID:2020633 PMID:16122634 PMID:20206331 PMID:20920669 PMID:21110228 PMID:22273710 PMID:22633641 PMID:22718020 PMID:22740598 PMID:22824638 PMID:23107375 PMID:23688382 PMID:24033266 PMID:25741868 PMID:26072523 PMID:26443808 PMID:27702554 PMID:27777325 PMID:28251916 PMID:28492532 PMID:29053833 PMID:29501408 |
|
NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
|
|
|
G |
Adck5 |
aarF domain containing kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,643,976...117,661,789
Ensembl chr 7:117,643,206...117,661,845
|
|
G |
Bop1 |
BOP1 ribosomal biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,514,529...117,538,342
Ensembl chr 7:117,514,533...117,538,342
|
|
G |
Cpsf1 |
cleavage and polyadenylation specific factor 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,661,779...117,672,373
Ensembl chr 7:117,661,661...117,672,373
|
|
G |
Cyc1 |
cytochrome c-1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,409,576...117,411,953
Ensembl chr 7:117,409,576...117,411,953
|
|
G |
Cyhr1 |
cysteine and histidine rich 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,720,909...117,722,734
Ensembl chr 7:117,706,727...117,722,723
|
|
G |
Dgat1 |
diacylglycerol O-acyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
|
|
G |
Exosc4 |
exosome component 4 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,390,302...117,393,044
Ensembl chr 7:117,390,285...117,393,719
|
|
G |
Fbxl6 |
F-box and leucine-rich repeat protein 6 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,602,056...117,604,954
Ensembl chr 7:117,602,041...117,605,141
|
|
G |
Foxh1 |
forkhead box H1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
|
|
G |
Gpaa1 |
glycosylphosphatidylinositol anchor attachment 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,394,367...117,397,950
Ensembl chr 7:117,394,372...117,397,956
|
|
G |
Grina |
glutamate ionotropic receptor NMDA type subunit associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,304,742...117,307,916
Ensembl chr 7:117,304,742...117,307,916
|
|
G |
Hgh1 |
HGH1 homolog |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,434,419...117,437,208
Ensembl chr 7:117,434,419...117,437,205
|
|
G |
Hsf1 |
heat shock transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
|
|
G |
Kifc2 |
kinesin family member C2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,722,732...117,730,702
Ensembl chr 7:117,723,263...117,730,702
|
|
G |
Maf1 |
MAF1 homolog, negative regulator of RNA polymerase III |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,417,643...117,420,722
Ensembl chr 7:117,417,687...117,420,719
|
|
G |
Mroh1 |
maestro heat-like repeat family member 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,445,191...117,472,418
Ensembl chr 7:117,445,144...117,514,612
|
|
G |
Oplah |
5-oxoprolinase (ATP-hydrolysing) |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159
|
|
G |
Parp10 |
poly (ADP-ribose) polymerase family, member 10 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,291,592...117,300,878
Ensembl chr 7:117,291,877...117,300,662
|
|
G |
Plec |
plectin |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
|
|
G |
Scrt1 |
scratch family transcriptional repressor 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,583,453...117,587,103
Ensembl chr 7:117,583,453...117,587,103
|
|
G |
Scx |
scleraxis bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,519,075...117,521,093
Ensembl chr 7:117,519,075...117,521,093
|
|
G |
Sharpin |
SHANK-associated RH domain interactor |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,413,151...117,417,455
Ensembl chr 7:117,413,152...117,417,363
|
|
G |
Slc39a4 |
solute carrier family 39 member 4 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
|
|
G |
Slc52a2 |
solute carrier family 52 member 2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar Annotator: match by term: Brown-vialetto-van laere syndrome 2 ClinVar Annotator: match by OMIM:614707 |
OMIM ClinVar |
PMID:10797435 PMID:22740598 PMID:22824638 PMID:22864630 PMID:23107375 PMID:23243084 PMID:24033266 PMID:24253200 PMID:24616084 PMID:25133958 PMID:25356970 PMID:25741868 PMID:25798182 PMID:25807286 PMID:26633542 PMID:26669662 PMID:27148561 PMID:27518768 PMID:28492532 PMID:29053833 PMID:29858556 PMID:29961509 PMID:30343981 |
|
NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
|
|
G |
Spatc1 |
spermatogenesis and centriole associated 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,326,279...117,349,957
Ensembl chr 7:117,326,279...117,349,957
|
|
G |
Tmem249 |
transmembrane protein 249 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,599,001...117,601,894
|
|
G |
Tonsl |
tonsoku-like, DNA repair protein |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,688,397...117,703,139
Ensembl chr 7:117,688,397...117,703,094
|
|
G |
Vps28 |
VPS28 subunit of ESCRT-I |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:117,684,339...117,688,187
Ensembl chr 7:117,684,339...117,688,187
|
|
|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Bent Spine Syndrome |
ClinVar |
PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 PMID:25741868 PMID:25961035 PMID:26627873 PMID:26969127 PMID:27247418 PMID:27532257 PMID:28492532 PMID:29300372 |
|
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Camptocormism |
ClinVar |
PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 PMID:19752458 PMID:19815814 PMID:20227526 PMID:20803511 PMID:21856450 PMID:21880868 PMID:22647225 PMID:22727047 PMID:23808377 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27271921 PMID:28130605 PMID:28492532 |
|
NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
|
|
G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: Bent Spine Syndrome |
ClinVar |
PMID:17486094 PMID:21378381 |
|
NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
|
|
|
G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
|
|
G |
Smn1 |
survival of motor neuron 1, telomeric |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17924536 |
|
NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
|
|
|
G |
Chmp2b |
charged multivesicular body protein 2B |
|
ISO |
ClinVar Annotator: match by term: Frontotemporal Dementia, Chromosome 3-Linked ClinVar Annotator: match by OMIM:600795 |
ClinVar OMIM |
PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 PMID:17956895 PMID:20352044 PMID:20592581 PMID:20625756 PMID:21222599 PMID:22521643 PMID:22527221 PMID:23155438 PMID:25741868 PMID:26467025 PMID:26777436 PMID:26836416 PMID:28430856 PMID:28492532 PMID:29431110 PMID:29486463 PMID:29525180 |
|
NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
|
|
G |
Pou1f1 |
POU class 1 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Frontotemporal Dementia, Chromosome 3-Linked |
ClinVar |
|
|
NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
|
|
|
G |
Gle1 |
GLE1 RNA export mediator |
|
ISO |
ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease ClinVar Annotator: match by OMIM:611890 |
OMIM ClinVar |
PMID:7770128 PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 PMID:25741868 PMID:27684565 PMID:28492532 PMID:28657126 PMID:28884921 PMID:29899397 |
|
NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
|
|
|
G |
Dctn1 |
dynactin subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy |
ClinVar |
|
|
NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
|
|
G |
Hspb1 |
heat shock protein family B (small) member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy |
ClinVar |
|
|
NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
|
|
G |
Hspb3 |
heat shock protein family B (small) member 3 |
|
ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy |
ClinVar |
|
|
NCBI chr 2:45,517,788...45,518,502
Ensembl chr 2:45,517,789...45,518,502
|
|
|
G |
Hspb8 |
heat shock protein family B (small) member 8 |
|
ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 2A ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA ClinVar Annotator: match by OMIM:158590 |
OMIM ClinVar |
PMID:1517763 PMID:15122253 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 |
|
NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013
|
|
|
G |
Hspb3 |
heat shock protein family B (small) member 3 |
|
ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 2C ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC |
OMIM ClinVar |
PMID:20142617 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 2:45,517,788...45,518,502
Ensembl chr 2:45,517,789...45,518,502
|
|
|
G |
Fbxo38 |
F-box protein 38 |
|
ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy 2D ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT |
OMIM ClinVar |
PMID:7723957 PMID:24207122 PMID:25741868 PMID:28492532 |
|
NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741
|
|
|
G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 |
ClinVar |
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19226263 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23553728 PMID:23963299 PMID:23989774 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25588603 PMID:25741868 PMID:26467025 PMID:26815532 PMID:27144933 PMID:28492532 |
|
NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
|
|
G |
Gars |
glycyl-tRNA synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 |
CTD ClinVar |
PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17595294 PMID:19329989 PMID:25168514 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28492532 PMID:28594869 PMID:29648643 PMID:31985473 |
|
NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
|
|
G |
Pnpo |
pyridoxamine 5'-phosphate oxidase |
|
ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 |
ClinVar |
PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 PMID:25762494 PMID:28492532 |
|
NCBI chr10:84,874,926...84,881,190
Ensembl chr10:84,874,927...84,881,190
|
|
G |
Reep1 |
receptor accessory protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
|
|
|
G |
Gars |
glycyl-tRNA synthetase |
|
ISO |
|
OMIM |
|
|
NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
|
|
|
G |
Reep1 |
receptor accessory protein 1 |
|
ISO |
ClinVar Annotator: match by OMIM:614751 |
OMIM ClinVar |
PMID:22703882 |
|
NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
|
|
|
G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC |
OMIM ClinVar |
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:26467025 PMID:26815532 PMID:28492532 |
|
NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
|
|
|
G |
Ccdc138 |
coiled-coil domain containing 138 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
|
|
G |
Edar |
ectodysplasin-A receptor |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
|
|
G |
Gcc2 |
GRIP and coiled-coil domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:27,832,960...27,879,764
Ensembl chr20:27,832,932...27,879,759
|
|
G |
Lims1 |
LIM zinc finger domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:27,895,981...28,004,767
Ensembl chr20:27,954,433...28,002,082
|
|
G |
LOC100910235 |
sulfotransferase 1C1-like |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:4,323,997...4,328,175
Ensembl chr 9:4,324,211...4,327,679
|
|
G |
Ranbp2 |
RAN binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:28,027,054...28,076,664 NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664 Ensembl chr20:28,027,054...28,076,664
|
|
G |
Slc5a7 |
solute carrier family 5 member 7 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar Annotator: match by OMIM:158580 |
OMIM ClinVar |
PMID:7420092 PMID:11294660 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 |
|
NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
|
|
G |
Sult1c2a |
sulfotransferase family, cytosolic, 1C, member 2a |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:4,152,588...4,168,355
Ensembl chr 9:4,152,589...4,168,221
|
|
G |
Sult1c3 |
sulfotransferase family 1C member 3 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:4,931,038...4,978,847
Ensembl chr 9:4,930,818...4,978,892
|
|
|
G |
Dctn1 |
dynactin subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 7B ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB |
OMIM ClinVar |
PMID:12062019 PMID:12627231 PMID:15326253 PMID:16505168 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:28430856 PMID:28492532 PMID:29525180 |
|
NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
|
|
G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:25635128 |
|
NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
|
|
G |
Gars |
glycyl-tRNA synthetase |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:25635128 |
|
NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
|
|
G |
Mfn2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:16714318 PMID:18425620 PMID:21715711 PMID:22206013 PMID:26955893 PMID:28492532 |
|
NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
|
|
G |
Mpz |
myelin protein zero |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
|
|
G |
Nefl |
neurofilament light |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:26467025 PMID:28492532 |
|
NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
|
|
G |
Plekhg5 |
pleckstrin homology and RhoGEF domain containing G5 |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:16728649 PMID:17564964 |
|
NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
|
|
G |
Scn11a |
sodium voltage-gated channel alpha subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:24776970 PMID:28492532 PMID:29213238 |
|
NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:24533459 |
|
NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
|
|
G |
Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:28492532 |
|
NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25900305 PMID:26110311 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532 |
|
NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
|
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII |
OMIM ClinVar CTD |
PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:22065612 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22675077 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27549087 PMID:27751652 PMID:28492532 PMID:28898540 |
|
NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
|
|
|
G |
Wars1 |
tryptophanyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 |
OMIM ClinVar |
PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409 |
|
NCBI chr 6:132,771,026...132,802,262
Ensembl chr 6:132,771,021...132,802,210
|
|
|
G |
Hspb1 |
heat shock protein family B (small) member 1 |
|
ISO |
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB ClinVar Annotator: match by term: HSPB1-Related Disorder ClinVar Annotator: match by OMIM:608634 |
OMIM ClinVar |
PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16368711 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18832141 PMID:20178975 PMID:20660910 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22734906 PMID:23643870 PMID:25741868 PMID:25965061 PMID:26467025 PMID:26986878 PMID:27816334 PMID:28144995 PMID:28492532 PMID:28595321 PMID:28702508 PMID:29381233 |
|
NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
|
|
|
G |
Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
|
ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 ClinVar Annotator: match by OMIM:604320 |
ClinVar OMIM |
PMID:234316 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15248100 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16765827 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:21353777 PMID:21902652 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25326635 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26709713 PMID:26922252 PMID:27450922 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28492532 PMID:28902413 PMID:29858556 PMID:30598237 PMID:32488064, PMID:11528396 |
RGD:737748 |
NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
|
|
|
G |
Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,998,209...59,001,779
Ensembl chr 5:58,995,249...59,001,800
|
|
G |
Arid3c |
AT-rich interaction domain 3C |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,107,182...58,114,632
Ensembl chr 5:58,107,707...58,113,553
|
|
G |
Ca9 |
carbonic anhydrase 9 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
|
|
G |
Ccdc107 |
coiled-coil domain containing 107 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
|
|
G |
Ccin |
calicin |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,452,348...59,454,235
Ensembl chr 5:59,452,348...59,454,233
|
|
G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
|
|
G |
Ccl21 |
C-C motif chemokine ligand 21 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782
|
|
G |
Ccl27 |
C-C motif chemokine ligand 27 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
|
|
G |
Cd72 |
Cd72 molecule |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,943,021...58,950,373
Ensembl chr 5:58,943,027...58,950,373
|
|
G |
Clta |
clathrin, light chain A |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,490,689...59,509,139
Ensembl chr 5:59,491,096...59,509,138
|
|
G |
Cntfr |
ciliary neurotrophic factor receptor |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,041,114...58,078,687
Ensembl chr 5:58,041,146...58,078,545
|
|
G |
Creb3 |
cAMP responsive element binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,063,532...59,068,196
Ensembl chr 5:59,063,531...59,068,188
|
|
G |
Dctn3 |
dynactin subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,098,706...58,106,706
Ensembl chr 5:58,098,706...58,106,706
|
|
G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
|
|
G |
Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870
|
|
G |
Enho |
energy homeostasis associated |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,018,039...58,019,836
Ensembl chr 5:58,018,039...58,019,836
|
|
G |
Fam166b |
family with sequence similarity 166, member B |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,883,064...58,884,136
|
|
G |
Fam205a |
family with sequence similarity 205, member A |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125
|
|
G |
Fam214b |
family with sequence similarity 214, member B |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,477,894...58,484,900
Ensembl chr 5:58,477,894...58,484,900
|
|
G |
Fam221b |
family with sequence similarity 221, member B |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,156,079...59,165,440
Ensembl chr 5:59,156,071...59,165,160
|
|
G |
Fancg |
FA complementation group G |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
|
|
G |
Galt |
galactose-1-phosphate uridylyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
|
|
G |
Gba2 |
glucosylceramidase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
|
|
G |
Glipr2 |
GLI pathogenesis-related 2 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,415,415...59,446,732
Ensembl chr 5:59,416,076...59,446,647
|
|
G |
Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
|
|
G |
Hint2 |
histidine triad nucleotide binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,150,344...59,152,599
Ensembl chr 5:59,150,345...59,152,599
|
|
G |
Hrct1 |
histidine rich carboxyl terminus 1 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,228,138...59,228,915
Ensembl chr 5:59,228,199...59,228,519
|
|
G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
|
|
G |
LOC100360821 |
rCG55159-like |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342
|
|
G |
Msmp |
microseminoprotein, prostate associated |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
Ensembl chr 5:59,084,626...59,085,676
|
|
G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
|
|
G |
Olr834 |
olfactory receptor 834 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,207,120...59,208,058
Ensembl chr 5:59,207,120...59,208,058
|
|
G |
Olr838 |
olfactory receptor 838 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,291,988...59,292,944
Ensembl chr 5:59,291,988...59,292,944
|
|
G |
Phf24 |
PHD finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070
|
|
G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
|
|
G |
Reck |
reversion-inducing-cysteine-rich protein with kazal motifs |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,348,568...59,415,169
Ensembl chr 5:59,348,639...59,415,135
|
|
G |
Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,080,290...59,088,777
Ensembl chr 5:59,080,765...59,088,523
|
|
G |
Rpp25l |
ribonuclease P/MRP subunit p25 like |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,096,037...58,097,577
Ensembl chr 5:58,096,213...58,097,577
|
|
G |
Rusc2 |
RUN and SH3 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096
|
|
G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar OMIM |
PMID:24088041 PMID:25741868 PMID:26078401 PMID:26467025 PMID:26633545 PMID:27629094 PMID:28492532 PMID:28708278 |
|
NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
|
|
G |
Sit1 |
signaling threshold regulating transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,985,912...58,987,538
Ensembl chr 5:58,985,829...58,987,760
|
|
G |
Spag8 |
sperm associated antigen 8 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699
|
|
G |
Stoml2 |
stomatin like 2 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251
|
|
G |
Tesk1 |
testis associated actin remodelling kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,937,615...58,943,358
Ensembl chr 5:58,937,615...58,943,358
|
|
G |
Tln1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592
|
|
G |
Tmem8b |
transmembrane protein 8B |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,165,552...59,193,772
Ensembl chr 5:59,178,846...59,191,975
|
|
G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
|
|
G |
Unc13b |
unc-13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,505,449...58,714,396
Ensembl chr 5:58,505,500...58,715,576
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
|
|
|
G |
Plekhg5 |
pleckstrin homology and RhoGEF domain containing G5 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 ClinVar Annotator: match by OMIM:611067 |
OMIM ClinVar |
PMID:16728649 PMID:17564964 PMID:23777631 PMID:23844677 PMID:25741868 PMID:26392352 PMID:26752306 PMID:28492532 |
|
NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
|
|
G |
Tnfrsf25 |
TNF receptor superfamily member 25 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 |
ClinVar |
|
|
NCBI chr 5:169,288,419...169,293,137
Ensembl chr 5:169,288,871...169,293,137
|
|
|
G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
|
|
G |
Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
|
ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar Annotator: match by OMIM:614881 |
OMIM ClinVar |
PMID:22522442 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26257172 PMID:27083531 PMID:27449489 PMID:28492532 |
|
NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668
|
|
G |
Dnpep |
aspartyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:82,505,529...82,514,399
Ensembl chr 9:82,505,530...82,514,399
|
|
G |
Ptprn |
protein tyrosine phosphatase, receptor type, N |
|
ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:82,446,626...82,462,314
Ensembl chr 9:82,446,633...82,461,903
|
|
G |
Resp18 |
regulated endocrine-specific protein 18 |
|
ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:82,470,794...82,477,136
Ensembl chr 9:82,470,759...82,477,181
|
|
|
G |
Slc52a3 |
solute carrier family 52 member 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive bulbar palsy of childhood |
ClinVar OMIM |
PMID:21110228 PMID:25741868 PMID:28492532 PMID:29053833 |
|
NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
|
|
|
G |
Adam10 |
ADAM metallopeptidase domain 10 |
|
ISO |
ClinVar Annotator: match by term: Corticobasal syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
|
|
G |
RGD1359108 |
similar to RIKEN cDNA 3110043O21 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia |
ClinVar |
|
|
NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
|
|
G |
Ttc3 |
tetratricopeptide repeat domain 3 |
|
ISO |
ClinVar Annotator: match by term: Corticobasal syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr11:34,598,324...34,739,986
Ensembl chr11:34,598,492...34,738,791
|
|
|
G |
RGD1359108 |
similar to RIKEN cDNA 3110043O21 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:26769963 PMID:28492532 |
|
NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
|
|
G |
Sqstm1 |
sequestosome 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 |
ClinVar |
PMID:11992264 PMID:12374763 PMID:15125799 PMID:15146436 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16691492 PMID:16813535 PMID:17129171 PMID:17188686 PMID:17229007 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20499339 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:22491873 PMID:22972638 PMID:23303844 PMID:23417734 PMID:23447461 PMID:23612225 PMID:23812289 PMID:23820649 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24899140 PMID:25241215 PMID:25382069 PMID:25512523 PMID:25664955 PMID:25708934 PMID:25741868 PMID:25796131 PMID:25852467 PMID:26208961 PMID:26467025 PMID:26627873 PMID:26713335 PMID:26836416 PMID:27275741 PMID:27545679 PMID:27594680 PMID:28430856 PMID:28492532 PMID:28642336 PMID:29457785 PMID:29599744 PMID:29895397 PMID:30154079 |
|
NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
|
|
|
G |
Chchd10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 |
OMIM ClinVar |
PMID:24934289 PMID:25113787 PMID:25155093 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25576308 PMID:25681414 PMID:25741868 PMID:25833818 PMID:26152333 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29789341 PMID:30014597 |
|
NCBI chr20:13,665,046...13,666,845
Ensembl chr20:13,665,031...13,667,333
|
|
|
G |
Sqstm1 |
sequestosome 1 |
|
ISO |
ClinVar Annotator: match by term: FTDALS3 ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 ClinVar Annotator: match by OMIM:616437 |
OMIM ClinVar |
PMID:11992264 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16813535 PMID:17229007 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20499339 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:23417734 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24899140 PMID:25241215 PMID:25741868 PMID:26627873 PMID:26713335 PMID:27275741 PMID:27594680 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29599744 PMID:30154079 |
|
NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
|
|
|
G |
Kif5a |
kinesin family member 5A |
|
ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
|
|
G |
Tbk1 |
TANK-binding kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
ClinVar OMIM |
PMID:25700176 PMID:25741868 PMID:25803835 PMID:25943890 PMID:26476236 PMID:26581300 PMID:28008748 PMID:28365590 PMID:28492532 PMID:28822984 PMID:30033073 |
|
NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
|
|
|
G |
Ccnf |
cyclin F |
|
ISO |
|
OMIM |
|
|
NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
|
|
|
G |
Cyld |
CYLD lysine 63 deubiquitinase |
|
ISO |
|
OMIM |
|
|
NCBI chr19:19,264,984...19,323,817
Ensembl chr19:19,265,164...19,315,357
|
|
|
G |
Smn1 |
survival of motor neuron 1, telomeric |
|
ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy, type II |
OMIM ClinVar |
PMID:9158159 PMID:9590291 PMID:9818944 PMID:9837824 PMID:10205265 PMID:10369311 PMID:11313744 PMID:11704667 PMID:12515823 PMID:14715275 PMID:15580564 PMID:17475491 PMID:17895963 PMID:18492800 PMID:19050931 PMID:20057317 PMID:21118896 PMID:21209906 PMID:21673580 PMID:21920940 PMID:22750651 PMID:22813737 PMID:22975760 PMID:23112048 PMID:24498607 PMID:24844453 PMID:25144193 PMID:25716911 PMID:25741868 PMID:26467025 PMID:27425821 |
|
NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
|
|
|
G |
Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
|
ISO |
ClinVar Annotator: match by term: ALS, JUVENILE |
ClinVar |
PMID:18852346 PMID:19481195 PMID:23881933 PMID:25174650 PMID:25588603 PMID:25741868 PMID:26467025 PMID:27159321 PMID:27790088 PMID:28430856 PMID:28492532 PMID:28832565 |
|
NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
|
|
G |
Erlin1 |
ER lipid raft associated 1 |
|
ISO |
ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:263,810,439...263,845,762
Ensembl chr 1:263,810,439...263,845,762
|
|
G |
Fus |
FUS RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis |
ClinVar |
PMID:19251627 PMID:19450904 PMID:20579074 PMID:20606625 PMID:20668261 PMID:21280085 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21949354 PMID:22980027 PMID:23056579 PMID:23085990 PMID:23881933 PMID:24899262 PMID:25173930 PMID:25625564 PMID:25741868 PMID:26251528 PMID:26467025 PMID:27123482 PMID:28492532 |
|
NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
|
|
G |
Plekhg5 |
pleckstrin homology and RhoGEF domain containing G5 |
|
ISO |
ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
|
|
G |
Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
|
ISO |
ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:41,608,287...41,763,591 NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
|
|
G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
|
ISO |
ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis |
ClinVar |
PMID:16051700 PMID:19405049 PMID:25741868 |
|
NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
|
|
G |
Vrk1 |
VRK serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis |
ClinVar |
PMID:24088041 PMID:25741868 PMID:26583493 PMID:26633545 PMID:28492532 |
|
NCBI chr 6:129,835,788...129,902,839
Ensembl chr 6:129,835,919...129,902,793
|
|
|
G |
Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2 ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders ClinVar Annotator: match by term: ALS, JUVENILE ClinVar Annotator: match by OMIM:205100 |
OMIM ClinVar |
PMID:2328408 PMID:7920663 PMID:11586297 PMID:16240357 PMID:16321985 PMID:18852346 PMID:19481195 PMID:23881933 PMID:24315819 PMID:24562058 PMID:25174650 PMID:25558820 PMID:25588603 PMID:25741868 PMID:26257771 PMID:26467025 PMID:27159321 PMID:27790088 PMID:28430856 PMID:28492532 PMID:28832565 PMID:32214227 |
|
NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
|
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4 ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES ClinVar Annotator: match by OMIM:602433 |
OMIM ClinVar |
PMID:9497266 PMID:14770181 PMID:15106121 PMID:17096168 PMID:17159128 PMID:18058631 PMID:19569000 PMID:19696032 PMID:20540686 PMID:20981092 PMID:21190393 PMID:21438761 PMID:21576111 PMID:22088787 PMID:22995991 PMID:23129421 PMID:23566282 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24105744 PMID:24244371 PMID:25025039 PMID:25174650 PMID:25299611 PMID:25353622 PMID:25382069 PMID:25741868 PMID:25802885 PMID:26467025 PMID:26601740 PMID:27013921 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28708278 PMID:28709720 PMID:28832565 PMID:29170628 PMID:29411640 PMID:29650794 PMID:30220148 |
|
NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
|
|
|
G |
Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE |
OMIM ClinVar |
PMID:17322883 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18835492 PMID:19105190 PMID:19438933 PMID:20110243 PMID:22175763 PMID:22237444 PMID:22696581 PMID:23443022 PMID:24833714 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26556829 PMID:27066562 PMID:27071356 PMID:27217339 PMID:28160950 PMID:28492532 PMID:28554332 PMID:28832565 PMID:29525178 PMID:29980238 PMID:30363882 PMID:31289639 |
|
NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
|
|
|
G |
Smn1 |
survival of motor neuron 1, telomeric |
|
ISO |
ClinVar Annotator: match by term: Kugelberg-Welander disease |
ClinVar OMIM |
PMID:9158159 PMID:9590291 PMID:9668169 PMID:9818944 PMID:9837824 PMID:10205265 PMID:10339583 PMID:11313744 PMID:11704667 PMID:12515823 PMID:14715275 PMID:15580564 PMID:17475491 PMID:17635841 PMID:17895963 PMID:18492800 PMID:19050931 PMID:20057317 PMID:21082361 PMID:21118896 PMID:21209906 PMID:21673580 PMID:21920940 PMID:22323744 PMID:22813737 PMID:23022347 PMID:23073312 PMID:23112048 PMID:24844453 PMID:25144193 PMID:25716911 PMID:25741868 PMID:26467025 PMID:27425821 |
|
NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
|
|
|
G |
Ar |
androgen receptor |
treatment |
ISO |
DNA:mutation,repeats:cds: DNA:repeats:exon |
OMIM |
PMID:2062380, PMID:8469342, PMID:26942099 |
RGD:734599, RGD:11576241, RGD:11576229 |
NCBI chr X:67,656,253...67,828,998
Ensembl chr X:67,656,253...67,829,026
|
|
G |
Gdnf |
glial cell derived neurotrophic factor |
|
ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:10447463 |
RGD:6218978 |
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
|
|
|
G |
Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
|
ISO |
ClinVar Annotator: match by term: Motor neuron degeneration |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
|
|
|
G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type |
OMIM ClinVar |
PMID:5828910 PMID:10430757 PMID:10717012 PMID:10905661 PMID:11728149 PMID:12609507 PMID:14326018 PMID:14724127 PMID:15477095 PMID:15800015 PMID:16217025 PMID:16519886 PMID:16828798 PMID:16865695 PMID:17105773 PMID:17221859 PMID:17325244 PMID:17439987 PMID:17626518 PMID:18414213 PMID:18539904 PMID:19181099 PMID:20448486 PMID:20474083 PMID:20718792 PMID: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:25736269 PMID:25741868 PMID:25928149 PMID:26272908 PMID:26467025 PMID:27393313 PMID:27532257 PMID:27930701 PMID:28416588 PMID:28492532 |
|
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
|
|
|
G |
Pvr |
PVR cell adhesion molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3020560 PMID:28446605 |
|
NCBI chr 1:80,820,306...80,835,712
Ensembl chr 1:80,820,050...80,835,701
|
|
|
G |
Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
|
ISO |
ClinVar Annotator: match by term: PLS juvenile ClinVar Annotator: match by term: Juvenile primary lateral sclerosis ClinVar Annotator: match by OMIM:606353 |
OMIM ClinVar |
PMID:11586297 PMID:16240357 PMID:19122027 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
|
|
|
G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Bulbar palsy |
ClinVar |
PMID:10371528 PMID:12420090 PMID:20129625 PMID:20396531 PMID:26467025 PMID:28492532 PMID:28566750 PMID:32581362 |
|
NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
|
|
G |
Slc52a3 |
solute carrier family 52 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
|
|
|
G |
Tbce |
tubulin folding cofactor E |
|
ISO |
ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy |
ClinVar OMIM |
PMID:25741868 PMID:27666369 |
|
NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
|
|
|
G |
Capn3 |
calpain 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive spinal muscular atrophy |
ClinVar |
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 |
|
NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
|
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy ClinVar Annotator: match by term: Amyotrophy, neurogenic scapuloperoneal, New England type ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy ClinVar Annotator: match by term: Scapuloperoneal Spinal Muscular Atrophy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1520078 PMID:4056805 PMID:8179305 PMID:15668982 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:22065612 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24319099 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532 PMID:28898540 |
|
NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
|
|
|
G |
Aars1 |
alanyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
|
|
NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
|
|
G |
Ankrd1 |
ankyrin repeat domain 1 |
|
ISO |
|
RGD |
PMID:14516314 |
RGD:1578366 |
NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
|
|
G |
Ar |
androgen receptor |
|
ISO |
|
RGD |
PMID:10400640 |
RGD:1578680 |
NCBI chr X:67,656,253...67,828,998
Ensembl chr X:67,656,253...67,829,026
|
|
G |
Bicd2 |
BICD cargo adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy |
ClinVar |
PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:25497877 PMID:27784775 PMID:28251916 PMID:28492532 |
|
NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
|
|
G |
Capn3 |
calpain 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive spinal muscular atrophy |
ClinVar |
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 |
|
NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
|
|
G |
Dpp6 |
dipeptidyl peptidase like 6 |
susceptibility |
ISO |
DNA:SNP:intron: (rs10260404) (human) |
RGD |
PMID:19332697 |
RGD:5687182 |
NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
|
|
G |
Dst |
dystonin |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:25059916 PMID:28492532 |
|
NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
|
|
G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:10862709 PMID:25512093 PMID:25741868 PMID:26392352 PMID:28492532 PMID:30122514 |
|
NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
|
|
G |
Etfdh |
electron transfer flavoprotein dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
|
|
NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608
|
|
G |
Fbln5 |
fibulin 5 |
|
ISO |
ClinVar Annotator: match by term: Proximal spinal muscular atrophy |
ClinVar |
|
|
NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
|
|
G |
Fbxo38 |
F-box protein 38 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741
|
|
G |
Fus |
FUS RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
|
|
NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
|
|
G |
Gars |
glycyl-tRNA synthetase |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17101916 PMID:17595294 PMID:17663003 PMID:19329989 PMID:24604904 PMID:25168514 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28492532 PMID:28594869 PMID:29648643 PMID:31985473 |
|
NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
|
|
G |
Hdac4 |
histone deacetylase 4 |
|
ISO |
mRNA:increased expression:muscle: |
RGD |
PMID:22798624 |
RGD:9681458 |
NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
|
|
G |
Hexb |
hexosaminidase subunit beta |
|
ISO |
|
RGD |
PMID:1720305 |
RGD:1599424 |
NCBI chr 2:27,983,925...28,003,260
Ensembl chr 2:27,984,117...28,003,186
|
|
G |
Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:14506069 PMID:14681881 PMID:15108294 PMID:15290238 PMID:16765827 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19158098 PMID:21353777 PMID:22157136 PMID:23566544 PMID:24033266 PMID:24388491 PMID:25326635 PMID:25439726 PMID:25568292 PMID:25741868 PMID:26467025 PMID:28065684 PMID:28397221 PMID:28492532 |
|
NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
|
|
G |
Litaf |
lipopolysaccharide-induced TNF factor |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
|
|
NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510
|
|
G |
Mars1 |
methionyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
|
|
G |
Morc2 |
MORC family CW-type zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:7964809 PMID:12601114 PMID:26497905 PMID:26659848 PMID:26912637 PMID:27105897 PMID:27105987 PMID:28492532 PMID:28581500 PMID:29440755 |
|
NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
|
|
G |
Nefl |
neurofilament light |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
|
|
NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
|
|
G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
protein:decreased expression:levator auris longus, transversus abdominis (mouse) |
RGD |
PMID:22153987 |
RGD:6767297 |
NCBI chr10:94,850,971...94,913,202
|
|
G |
Plekhg5 |
pleckstrin homology and RhoGEF domain containing G5 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
|
|
G |
Pmp22 |
peripheral myelin protein 22 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
|
|
G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
|
|
NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:9497266 PMID:15106121 PMID:21438761 PMID:21576111 PMID:22088787 PMID:24105744 PMID:24244371 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
|
|
G |
Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:20220177 PMID:27068304 PMID:28492532 |
|
NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
|
|
G |
Slc5a7 |
solute carrier family 5 member 7 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
|
|
G |
Smn1 |
survival of motor neuron 1, telomeric |
|
ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Spinal muscular atrophy CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:10679938 PMID:11839954 PMID:12833158 PMID:15862279 PMID:18155522 PMID:18572081 PMID:19050931 PMID:19150990 PMID:20442745 PMID:21350916 PMID:21542063 PMID:21673580 PMID:21819082 PMID:25572663 PMID:25741868 PMID:26467025 PMID:26606804 PMID:27111068 PMID:28492532 PMID:30006696, PMID:7813012 |
RGD:9831153 |
NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
|
|
G |
Tdrkh |
tudor and KH domain containing |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
|
|
NCBI chr 2:195,649,813...195,674,217
Ensembl chr 2:195,651,930...195,674,616
|
|
G |
Tll2 |
tolloid-like 2 |
|
ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:260,348,905...260,460,791
Ensembl chr 1:260,348,905...260,460,791
|
|
G |
Tnfrsf25 |
TNF receptor superfamily member 25 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy |
ClinVar |
|
|
NCBI chr 5:169,288,419...169,293,137
Ensembl chr 5:169,288,871...169,293,137
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Distal spinal muscular atrophy |
CTD ClinVar |
PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 PMID:22187434 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532 |
|
NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
|
|
G |
Tymp |
thymidine phosphorylase |
|
ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy |
ClinVar |
PMID:2005900 PMID:25741868 PMID:26467025 |
|
NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
|
|
G |
Vapb |
VAMP associated protein B and C |
onset |
ISO |
DNA:missense mutation:cds:p.P56S (human) ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant |
ClinVar |
PMID:15372378 |
RGD:5688230 |
NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
|
|
G |
Vrk1 |
VRK serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar Annotator: match | |