RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | motor neuron disease |
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Accession: | DOID:231
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browse the term
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Definition: | A neurodegenerative disease that is located_in the motor neurons. (DO) |
Synonyms: | exact_synonym: | Lower Motor Neuron Disease; Motor System Disease; Motor System Diseases; familial motor neuron disease; motor neuron diseases; secondary motor neuron disease; upper motor neuron disease |
| narrow_synonym: | MADRAS MOTOR NEURON DISEASE |
| primary_id: | MESH:D016472 |
| xref: | EFO:0003782; ICD9CM:335.2 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Aif1 |
allograft inflammatory factor 1 |
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IEP |
protein:increased expression:cervical spinal cord (rat) |
RGD |
PMID:18931666 |
RGD:2313029 |
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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Gars1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Motor neuron disease |
ClinVar |
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NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:10215103 |
RGD:5490213 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Htra2 |
HtrA serine peptidase 2 |
treatment |
ISO |
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RGD |
PMID:22976834 PMID:22976834 |
RGD:10402865, RGD:10402865 |
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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Mpz |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Motor neuron disease |
ClinVar |
PMID:25741868 |
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NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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Mt3 |
metallothionein 3 |
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IMP |
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RGD |
PMID:16382788 |
RGD:6480623 |
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Motor neuron disease |
ClinVar |
PMID:25741868 PMID:27455347 PMID:28089114 PMID:28492532 PMID:29068549 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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Nos1 |
nitric oxide synthase 1 |
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ISO |
protein:decreased expression;motor neuron |
RGD |
PMID:12200626 |
RGD:5132629 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Optn |
optineurin |
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ISO |
ClinVar Annotator: match by term: Motor neuron disease |
ClinVar |
PMID:21613650 PMID:28089114 PMID:28492532 PMID:31000212 |
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NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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Park7 |
Parkinsonism associated deglycase |
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ISO |
ClinVar Annotator: match by term: Motor neuron disease |
ClinVar |
PMID:25741868 |
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NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18313024 PMID:20603202 |
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Prdx3 |
peroxiredoxin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16702190 |
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NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Rhot1 |
ras homolog family member T1 |
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ISS |
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MouseDO |
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NCBI chr10:65,198,700...65,262,807
Ensembl chr10:65,170,560...65,262,804
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Slc52a3 |
solute carrier family 52 member 3 |
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ISO |
ClinVar Annotator: match by term: Madras motor neuron disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32579787 |
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NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
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Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Motor neuron disease human transgene in rat model |
CTD ClinVar RGD |
PMID:1259395 PMID:2517465 PMID:7635196 PMID:7673954 PMID:7997024 PMID:8004110 PMID:8058797 PMID:8069312 PMID:8446170 PMID:8528216 PMID:8572658 PMID:8875253 PMID:8891072 PMID:9029070 PMID:10400992 PMID:10593307 PMID:10732812 PMID:12165567 PMID:12358759 PMID:15056757 PMID:15208263 PMID:15258228 PMID:16423367 PMID:16702190 PMID:17394531 PMID:17543992 PMID:18273717 PMID:18301754 PMID:18951903 PMID:19259395 PMID:19483195 PMID:20184521 PMID:20399791 PMID:20540686 PMID:21120636 PMID:21257910 PMID:21549128 PMID:22292843 PMID:23264618 PMID:23280792 PMID:23726301 PMID:23773010 PMID:23873540 PMID:24325798 PMID:24439480 PMID:25741868 PMID:26362407 PMID:26467025 PMID:28089114 PMID:28105640 PMID:28291249 PMID:28430856 PMID:28492532 PMID:29411640 PMID:30637102 PMID:11717358 More...
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RGD:2290184 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Tardbp |
TAR DNA binding protein |
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ISO |
DNA:missense mutation:cds:p.A315T(human) ClinVar Annotator: match by term: Motor neuron disease |
ClinVar RGD |
PMID:18372902 PMID:18931000 PMID:19224587 PMID:19760257 PMID:23881933 PMID:25442115 PMID:25741868 PMID:28089114 PMID:28430856 PMID:28492532 PMID:18288693 More...
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RGD:5687193 |
NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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Tbk1 |
TANK-binding kinase 1 |
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ISO |
ClinVar Annotator: match by term: Motor neuron disease |
ClinVar |
PMID:21447600 PMID:25700176 PMID:28089114 PMID:28492532 PMID:31996268 |
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NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
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Vim |
vimentin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16831193 |
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NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Smn1 |
survival of motor neuron 1, telomeric |
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ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy, type IV |
OMIM ClinVar |
PMID:21542063 PMID:24844453 PMID:25741868 PMID:26467025 PMID:27425821 PMID:28492532 PMID:31213135 More...
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NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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Actl6b |
actin-like 6B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28973294 |
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NCBI chr12:19,124,887...19,141,419
Ensembl chr12:19,124,916...19,141,376
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Adarb1 |
adenosine deaminase, RNA-specific, B1 |
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ISO ISS |
mRNA:decreased expression:motor neuron: |
MouseDO RGD |
PMID:20372915 PMID:22226999 |
RGD:10755336, RGD:13432092 |
NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
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Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
protein:increased expression:skeletal muscle |
RGD |
PMID:18273716 |
RGD:5509081 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Charcot disease |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:28832565 PMID:11586297 |
RGD:1599080 |
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Ang |
angiogenin |
no_association |
ISO |
DNA:mutations:multiple ClinVar Annotator: match by term: Amyotrophic lateral sclerosis DNA:missense mutations DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human) protein:increased expression:cerebrospinal fluid |
ClinVar RGD |
PMID:25741868 PMID:22190368 PMID:16501576 PMID:17462671 PMID:19177252 |
RGD:6892707, RGD:6892718, RGD:6892716, RGD:6892713 |
NCBI chr15:24,317,733...24,323,361
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Anxa11 |
annexin A11 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797
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Aox1 |
aldehyde oxidase 1 |
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ISO |
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RGD |
PMID:7570184 |
RGD:734575 |
NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770
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Apoe |
apolipoprotein E |
severity |
ISO |
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) |
RGD |
PMID:8899655 |
RGD:12880359 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Aqp4 |
aquaporin 4 |
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IEP |
mRNA, protein:increased expression:spinal cord protein:increased expression:brainstem |
RGD |
PMID:19089902 PMID:22987392 |
RGD:5490153, RGD:8662893 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Atg5 |
autophagy related 5 |
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ISO |
mRNA:increased expression:spinal cord |
RGD |
PMID:23851366 |
RGD:11561951 |
NCBI chr20:47,798,222...47,889,216
Ensembl chr20:47,798,290...47,889,209
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Atox1 |
antioxidant 1 copper chaperone |
disease_progression |
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:19656261 |
RGD:13524567 |
NCBI chr10:39,564,855...39,579,892
Ensembl chr10:39,564,857...39,579,950
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Atxn2 |
ataxin 2 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:25741868 PMID:27377857 PMID:28478440 |
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NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479
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Bad |
BCL2-associated agonist of cell death |
disease_progression |
ISO |
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RGD |
PMID:10582606 |
RGD:13506907 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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Bak1 |
BCL2-antagonist/killer 1 |
treatment |
ISO |
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RGD |
PMID:20890041 |
RGD:13506803 |
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
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Bax |
BCL2 associated X, apoptosis regulator |
treatment disease_progression severity |
ISO |
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RGD |
PMID:24699224 PMID:10582606 PMID:20195368 PMID:20890041 PMID:21193837 |
RGD:13506797, RGD:13506907, RGD:13506805, RGD:13506803, RGD:13506800 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2 |
BCL2, apoptosis regulator |
disease_progression |
ISO |
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RGD |
PMID:10582606 |
RGD:13506907 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1 |
Bcl2-like 1 |
treatment disease_progression |
IMP ISO |
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RGD |
PMID:18543336 PMID:10582606 |
RGD:13506902, RGD:13506907 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Becn1 |
beclin 1 |
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ISO |
mRNA:increased expression:spinal cord |
RGD |
PMID:23851366 |
RGD:11561951 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Bid |
BH3 interacting domain death agonist |
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ISO |
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RGD |
PMID:29440992 |
RGD:13506949 |
NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
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Bnip3l |
BCL2 interacting protein 3 like |
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ISO |
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RGD |
PMID:29440992 |
RGD:13506949 |
NCBI chr15:41,174,594...41,197,730
Ensembl chr15:41,174,594...41,197,803
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Bptf |
bromodomain PHD finger transcription factor |
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ISO |
mRNA,protein:increased expression:spinal cord: |
RGD |
PMID:9225734 |
RGD:9586057 |
NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769
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C3 |
complement C3 |
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IEP |
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RGD |
PMID:19050293 |
RGD:5130169 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C5ar1 |
complement C5a receptor 1 |
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IMP |
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RGD |
PMID:19050293 |
RGD:5130169 |
NCBI chr 1:76,948,622...76,959,826
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Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Calca |
calcitonin-related polypeptide alpha |
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ISO |
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RGD |
PMID:21964254 |
RGD:5684010 |
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Camk1g |
calcium/calmodulin-dependent protein kinase IG |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23624525 |
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NCBI chr13:104,877,909...104,901,658
Ensembl chr13:104,877,910...104,901,556
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Casp12 |
caspase 12 |
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IEP |
protein:increased activity:spinal cord |
RGD |
PMID:16847061 |
RGD:2311466 |
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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Casp3 |
caspase 3 |
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IEP |
protein:increased activity:spinal cord |
RGD |
PMID:16847061 |
RGD:2311466 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp9 |
caspase 9 |
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IEP |
protein:increased activity:spinal cord |
RGD |
PMID:16847061 |
RGD:2311466 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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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 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccs |
copper chaperone for superoxide dismutase |
treatment |
ISO |
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RGD |
PMID:26826269 |
RGD:13524551 |
NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915
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Cd40lg |
CD40 ligand |
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ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:20348957 PMID:20348957 |
RGD:5490547 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Cdk5 |
cyclin-dependent kinase 5 |
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ISO |
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RGD |
PMID:11343650 |
RGD:734741 |
NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
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Cfap410 |
cilia and flagella associated protein 410 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
CTD ClinVar |
PMID:25741868 PMID:27455348 |
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NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
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Chchd10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Charcot disease |
ClinVar |
PMID:25576308 PMID:25741868 PMID:28492532 PMID:29540477 PMID:30014597 PMID:31690696 More...
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NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
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Chmp2b |
charged multivesicular body protein 2B |
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ISO |
DNA:mutations:cds:Q206H, I29V (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16807408 PMID:16807408 |
RGD:5688711 |
NCBI chr11:3,338,007...3,364,357
Ensembl chr11:3,337,494...3,385,181
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Chrna3 |
cholinergic receptor nicotinic alpha 3 subunit |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr 8:55,401,981...55,415,012
Ensembl chr 8:55,401,702...55,415,165
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Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31628766 |
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NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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Chrnb4 |
cholinergic receptor nicotinic beta 4 subunit |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr 8:55,418,379...55,436,967
Ensembl chr 8:55,418,313...55,437,027
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Cntf |
ciliary neurotrophic factor |
susceptibility |
ISO |
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RGD |
PMID:11951178 |
RGD:734796 |
NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
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Ctsh |
cathepsin H |
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ISO |
mRNA, protein:increased expression:spinal cord |
RGD |
PMID:17583678 |
RGD:5686391 |
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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Dao |
D-amino-acid oxidase |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741
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Dbr1 |
debranching RNA lariats 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23104007 |
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NCBI chr 8:100,139,039...100,150,768
Ensembl chr 8:100,139,034...100,151,030
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Dctn1 |
dynactin subunit 1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | 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 More...
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NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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Ddx20 |
DEAD-box helicase 20 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr 2:193,158,761...193,168,484
Ensembl chr 2:193,158,823...193,166,774
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Dnajc7 |
DnaJ heat shock protein family (Hsp40) member C7 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr10:85,518,637...85,555,079
Ensembl chr10:85,518,621...85,555,575
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
|
ISO |
protein:decreased expression:mitochondrion: |
RGD |
PMID:24399935 |
RGD:9589066 |
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dpp6 |
dipeptidyl peptidase like 6 |
no_association |
ISO |
DNA:SNP:intron:rs10260404 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18084291 PMID:18708572 PMID:20137488 |
RGD:5687188, RGD:5687181 |
NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
|
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
|
ISO |
protein:increased expression:spinal cord |
RGD |
PMID:12675919 |
RGD:2301741 |
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
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G |
Elp3 |
elongator acetyltransferase complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr15:39,754,635...39,816,482
Ensembl chr15:39,754,632...39,816,445
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G |
Epg5 |
ectopic P-granules 5 autophagy tethering factor |
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ISS |
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MouseDO |
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NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
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G |
Epo |
erythropoietin |
disease_progression |
ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:17368721 |
RGD:10395391 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:25741868 PMID:28492532 PMID:32065797 |
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NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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G |
Ercc6l2 |
ERCC excision repair 6 like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30879219 |
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NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
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G |
Esrra |
estrogen related receptor, alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22975021 |
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NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
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G |
Ewsr1 |
EWS RNA-binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
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G |
Fig4 |
FIG4 phosphoinositide 5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease |
ClinVar |
PMID:17572665 PMID:18180444 PMID:18261132 PMID:18556664 PMID:19118816 PMID:20301641 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22998443 PMID:23165282 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24878229 PMID:25382069 PMID:25448007 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26467025 PMID:26662798 PMID:27447704 PMID:27549087 PMID:28051077 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29468183 PMID:30373780 PMID:30792901 PMID:31313076 PMID:31743256 PMID:32022442 More...
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NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
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G |
Fus |
Fus RNA binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28478440 PMID:29419416 PMID:29434138 PMID:30455313 PMID:22055719 PMID:21408206 More...
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RGD:5509900, RGD:9685710 |
NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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G |
Gdnf |
glial cell derived neurotrophic factor |
|
ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:10447463 |
RGD:6218978 |
NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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G |
Gfap |
glial fibrillary acidic protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11723166 |
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NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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G |
Gjc2 |
gap junction protein, gamma 2 |
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ISO |
protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) |
RGD |
PMID:24597481 |
RGD:13208591 |
NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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G |
Gle1 |
GLE1 RNA export mediator |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease |
ClinVar |
PMID:25741868 PMID:28884921 |
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NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
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G |
Glt8d1 |
glycosyltransferase 8 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229
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G |
Got1 |
glutamic-oxaloacetic transaminase 1 |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:26113413 |
RGD:13506239 |
NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633
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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 chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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G |
Gsk3a |
glycogen synthase kinase 3 alpha |
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ISO |
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RGD |
PMID:12675919 |
RGD:2301741 |
NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
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G |
Gsk3b |
glycogen synthase kinase 3 beta |
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ISO |
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RGD |
PMID:12675919 |
RGD:2301741 |
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16681429 |
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NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16109392 |
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NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Hdac4 |
histone deacetylase 4 |
severity |
ISO |
|
RGD |
PMID:23824486 |
RGD:9681450 |
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hes1 |
hes family bHLH transcription factor 1 |
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ISO |
protein:increased expression:spinal chord |
RGD |
PMID:26067594 |
RGD:13524575 |
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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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 2:93,096,706...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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G |
Hmgb1 |
high mobility group box 1 |
severity |
ISO |
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RGD |
PMID:23639787 |
RGD:10402056 |
NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565
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G |
Hnrnpk |
heterogeneous nuclear ribonucleoprotein K |
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ISO |
protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) |
RGD |
PMID:19323997 |
RGD:10058964 |
NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
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G |
Hrk |
harakiri, BCL2 interacting protein |
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ISO |
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RGD |
PMID:29440992 |
RGD:13506949 |
NCBI chr12:38,387,484...38,409,652
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G |
Igf1r |
insulin-like growth factor 1 receptor |
onset |
IEP |
mRNA:decreased expression:spinal cord (rat) |
RGD |
PMID:18683239 |
RGD:12904708 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Igf2r |
insulin-like growth factor 2 receptor |
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IEP |
protein:increased expression:spinal cord, astrocyte |
RGD |
PMID:18441505 |
RGD:2311519 |
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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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 chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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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 4:179,028,594...179,434,657
Ensembl chr 4:179,027,281...179,404,164
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
protein:increased expression:spinal chord |
RGD |
PMID:26067594 |
RGD:13524575 |
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
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IEP |
protein:decreased expression:brainstem |
RGD |
PMID:22987392 |
RGD:8662893 |
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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G |
Kdr |
kinase insert domain receptor |
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ISO |
protein:decreased expression:spinal cord |
RGD |
PMID:16410746 |
RGD:1580568 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Keap1 |
Kelch-like ECH-associated protein 1 |
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ISO |
mRNA:increased expression:primary motor cortex (human) |
RGD |
PMID:18957896 |
RGD:6893397 |
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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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 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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G |
Kif5a |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28362824 PMID:28492532 |
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NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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G |
Lcn2 |
lipocalin 2 |
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IEP |
protein:increased expression:spinal cord |
RGD |
PMID:23431168 |
RGD:126781758 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Lrrk2 |
leucine-rich repeat kinase 2 |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:21375368 |
RGD:5508417 |
NCBI chr 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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G |
Maml1 |
mastermind-like transcriptional coactivator 1 |
|
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:26067594 |
RGD:13524575 |
NCBI chr10:34,588,639...34,624,298
Ensembl chr10:34,588,646...34,623,338
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G |
Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
|
ISO |
mRNA:increased expression:spinal cord |
RGD |
PMID:23851366 |
RGD:11561951 |
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
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ISO |
protein:hyperphosphorylation:motor neuron: |
RGD |
PMID:15910777 |
RGD:10412312 |
NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
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G |
Mapk14 |
mitogen activated protein kinase 14 |
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ISO |
protein:hyperphosphorylation:motor neuron: |
RGD |
PMID:15910777 |
RGD:10412312 |
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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G |
Matr3 |
matrin 3 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166
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G |
Mfn1 |
mitofusin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22975021 |
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NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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G |
Mfn2 |
mitofusin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22975021 |
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mir206 |
microRNA 206 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22975021 PMID:27538595 |
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NCBI chr 9:23,094,249...23,094,332
Ensembl chr 9:23,094,249...23,094,332
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G |
Mir214 |
microRNA 214 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27538595 |
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NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
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G |
Mir23a |
microRNA 23a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22975021 |
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NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
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G |
Mir322 |
microRNA 322 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27538595 |
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NCBI chr X:132,806,594...132,806,688
Ensembl chr X:132,806,594...132,806,688
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G |
Mir455 |
microRNA 455 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22975021 |
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NCBI chr 5:76,689,313...76,689,390
Ensembl chr 5:76,689,313...76,689,390
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:19796283 |
RGD:7207054 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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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 |
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NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
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G |
Mstn |
myostatin |
|
IMP |
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RGD |
PMID:16837207 |
RGD:2303556 |
NCBI chr 9:48,453,982...48,458,809
Ensembl chr 9:48,452,533...48,458,933
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G |
Mt1 |
metallothionein 1 |
|
ISO |
mRNA:increased expression:spinal cord (mouse) |
RGD |
PMID:16179515 |
RGD:6484130 |
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
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G |
Mt2A |
metallothionein 2A |
onset |
ISO |
mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) |
RGD |
PMID:18000159 |
RGD:6482832 |
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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G |
Mt3 |
metallothionein 3 |
|
ISO |
|
RGD |
PMID:17097207 PMID:12388585 PMID:12417341 |
RGD:6480495, RGD:6480627, RGD:6480625 |
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mtnr1a |
melatonin receptor 1A |
disease_progression |
ISO |
protein:decreased expression:spinal chord |
RGD |
PMID:23537713 |
RGD:13524569 |
NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
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G |
Mtrex |
Mtr4 exosome RNA helicase |
|
ISO |
mRNA:increased expression:peripheral blood lymphocyte (human) |
RGD |
PMID:23006766 |
RGD:11041891 |
NCBI chr 2:44,500,326...44,560,624
Ensembl chr 2:44,461,444...44,560,627
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G |
Nefh |
neurofilament heavy chain |
treatment |
ISO |
DNA:deletions:cds:multiple (human) ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar RGD |
PMID:25741868 PMID:9931323 PMID:10686419 |
RGD:1302518, RGD:13525000 |
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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G |
Nefl |
neurofilament light chain |
treatment severity disease_progression |
ISO |
protein:increased expression:serum (human) protein:increased expression:serum, csf |
RGD |
PMID:10686419 PMID:30309882 PMID:26273687 |
RGD:13525000, RGD:127284877, RGD:13525006 |
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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G |
Nefm |
neurofilament medium chain |
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IGI |
|
RGD |
PMID:16006557 |
RGD:9698444 |
NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
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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 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
treatment |
ISO |
mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:27012417 PMID:18957896 PMID:22056419 |
RGD:6893397, RGD:10412690 |
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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Nos2 |
nitric oxide synthase 2 |
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ISO |
protein:increased expression:spinal cord (mouse) |
RGD |
PMID:21867702 |
RGD:5509065 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Notch1 |
notch receptor 1 |
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ISO |
protein:increased expression:spinal chord |
RGD |
PMID:26067594 |
RGD:13524575 |
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Nrf1 |
nuclear respiratory factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22975021 |
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NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328
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G |
Optn |
optineurin |
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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 RGD |
PMID:9536098 PMID:17576681 PMID:21059646 PMID:25096716 PMID:25741868 PMID:28492532 PMID:21825243 PMID:20428114 PMID:21613650 More...
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RGD:6480502, RGD:6480506, RGD:6480504 |
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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G |
Pfn1 |
profilin 1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
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G |
Pgf |
placental growth factor |
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ISO |
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RGD |
PMID:22119626 |
RGD:6483573 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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G |
Pla2g4a |
phospholipase A2 group IVA |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15816863 |
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NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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G |
Pon1 |
paraoxonase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
CTD ClinVar |
PMID:25741868 PMID:28070599 |
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NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Pon2 |
paraoxonase 2 |
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ISO |
DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 (human) |
RGD |
PMID:16822964 |
RGD:5509925 |
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
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G |
Pon3 |
paraoxonase 3 |
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ISO |
DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2 (human) ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:16822964 |
RGD:5509925 |
NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
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ISO |
human gene in mouse model CTD Direct Evidence: marker/mechanism mRNA:decreased expression:motor cortex, muscle (human) mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse) |
CTD RGD |
PMID:22975021 PMID:22102466 PMID:23147503 PMID:23147503 |
RGD:6484265, RGD:7242019, RGD:7242019 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ppargc1b |
PPARG coactivator 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22975021 |
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NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194
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G |
Ppp1r15a |
protein phosphatase 1, regulatory subunit 15A |
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ISO |
protein:increased expression:spinal cord, astrocyte, microglia (mouse) |
RGD |
PMID:23118353 |
RGD:9999418 |
NCBI chr 1:96,000,053...96,003,128
Ensembl chr 1:96,000,058...96,003,171
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G |
Prph |
peripherin |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to |
ClinVar |
PMID:15322088 PMID:15446584 PMID:25741868 PMID:28492532 |
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NCBI chr 7:130,218,149...130,222,136
Ensembl chr 7:130,218,357...130,222,136
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G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
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ISS |
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MouseDO |
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NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
protein:increased expression:spinal cord, neuron, glia CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11220737 PMID:15816863 PMID:14511332 |
RGD:5688235 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Ptprz1 |
protein tyrosine phosphatase, receptor type Z1 |
treatment |
IEP |
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RGD |
PMID:25113670 |
RGD:9590123 |
NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
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G |
Rara |
retinoic acid receptor, alpha |
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IEP |
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RGD |
PMID:17956549 |
RGD:2314289 |
NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142
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G |
RGD1359108 |
similar to RIKEN cDNA 3110043O21 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25442110 PMID:27713094 PMID:28122516 PMID:28478440 PMID:28973294 |
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NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
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G |
Rnase4 |
ribonuclease A family member 4 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr15:24,312,765...24,330,116
Ensembl chr15:24,312,464...24,330,117
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G |
Runx1 |
RUNX family transcription factor 1 |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:18000159 |
RGD:6482832 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Sarm1 |
sterile alpha and TIR motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr10:63,369,456...63,393,016
Ensembl chr10:63,369,456...63,392,822
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G |
Scfd1 |
sec1 family domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
CTD ClinVar |
PMID:25741868 PMID:27455348 |
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NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078
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G |
Serpinf1 |
serpin family F member 1 |
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ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:12067231 |
RGD:8554892 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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G |
Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24885036 |
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NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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G |
Sirt1 |
sirtuin 1 |
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ISO |
protein:increased expression:spinal cord (mouse) |
RGD |
PMID:17581637 |
RGD:2290573 |
NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
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G |
Slc11a2 |
solute carrier family 11 member 2 |
onset |
ISO |
DNA:SNP: :rs407135 (human) |
RGD |
PMID:21276595 |
RGD:5688710 |
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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G |
Slc1a2 |
solute carrier family 1 member 2 |
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ISO |
mRNA:processing errors:spinal cord, motor cortex (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11723166 PMID:9539131 |
RGD:1302517 |
NCBI chr 3:89,005,129...89,126,498
Ensembl chr 3:89,005,129...89,126,498
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G |
Slc31a1 |
solute carrier family 31 member 1 |
disease_progression |
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:19656261 |
RGD:13524567 |
NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228
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G |
Slc6a1 |
solute carrier family 6 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20132478 |
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NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28973294 |
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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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 RGD |
PMID:7647793 PMID:7655469 PMID:7836951 PMID:7887412 PMID:8298637 PMID:8813280 PMID:8875253 PMID:8909456 PMID:9065559 PMID:9365366 PMID:9817920 PMID:10025816 PMID:10439968 PMID:10809943 PMID:10889018 PMID:10930589 PMID:11220737 PMID:11220750 PMID:11284995 PMID:11369193 PMID:11467054 PMID:11590119 PMID:11723166 PMID:11997070 PMID:12442272 PMID:12482932 PMID:12586733 PMID:12626432 PMID:12684256 PMID:14506936 PMID:14517684 PMID:14623191 PMID:15069187 PMID:15258228 PMID:15465081 PMID:15952898 PMID:16020530 PMID:16495328 PMID:16945901 PMID:17097207 PMID:17146286 PMID:17255946 PMID:17319283 PMID:17420412 PMID:17483589 PMID:17496168 PMID:18233996 PMID:18319614 PMID:18428003 PMID:18608106 PMID:18951903 PMID:19344917 PMID:19483195 PMID:19635794 PMID:19703565 PMID:19922148 PMID:19929749 PMID:19965850 PMID:20132483 PMID:20177826 PMID:20189984 PMID:20309572 PMID:20348957 PMID:20399791 PMID:20460594 PMID:20515040 PMID:20540686 PMID:21867702 PMID:22264771 PMID:22292843 PMID:22475618 PMID:22537108 PMID:23027932 PMID:23062701 PMID:23100398 PMID:23280792 PMID:23583883 PMID:23962495 PMID:24885036 PMID:25025039 PMID:25052939 PMID:25164820 PMID:25299611 PMID:25509359 PMID:25600987 PMID:25741868 PMID:25792239 PMID:25806427 PMID:26362407 PMID:26467025 PMID:26630559 PMID:26742954 PMID:27348463 PMID:28038988 PMID:28105640 PMID:28430856 PMID:28478440 PMID:28492532 PMID:29374221 PMID:29411640 PMID:29419416 PMID:29434186 PMID:29649360 PMID:29861044 PMID:30503815 PMID:30637102 PMID:31788332 PMID:18947433 PMID:26826269 PMID:23147550 More...
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RGD:2312367, RGD:13524551, RGD:8655880 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8866423 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:18337587 PMID:19466474 PMID:22696581 PMID:23733235 PMID:24833714 PMID:25588603 PMID:25741868 PMID:26467025 PMID:27884173 PMID:27904835 PMID:28130640 PMID:28492532 PMID:33414559 More...
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NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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G |
Sptlc1 |
serine palmitoyltransferase, long chain base subunit 1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
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G |
Sqstm1 |
sequestosome 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis mRNA:increased expression:spinal cord |
CTD ClinVar RGD |
PMID:19765191 PMID:25741868 PMID:28492532 PMID:32579787 PMID:23851366 |
RGD:11561951 |
NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673
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G |
Ss18l1 |
SS18L1 subunit of BAF chromatin remodeling complex |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:25741868 PMID:28973294 |
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NCBI chr 3:167,143,730...167,165,253
Ensembl chr 3:167,143,994...167,165,253
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G |
Steap2 |
STEAP2 metalloreductase |
disease_progression |
ISO |
protein:increased expression:spinal chord |
RGD |
PMID:19656261 |
RGD:13524567 |
NCBI chr 4:28,347,769...28,368,177
Ensembl chr 4:28,348,362...28,375,791
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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 RGD |
PMID:18372902 PMID:21167262 PMID:22879928 PMID:23104007 PMID:23891805 PMID:24019256 PMID:24252504 PMID:26980269 PMID:28122516 PMID:28478440 PMID:29419416 PMID:30157956 PMID:21752789 PMID:18372902 PMID:21651514 PMID:17023659 PMID:18309045 PMID:21998667 More...
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RGD:5687134, RGD:5687192, RGD:5687173, RGD:5687158, RGD:5687157, RGD:5687137 |
NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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G |
Tbk1 |
TANK-binding kinase 1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:16199547 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532 More...
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NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
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G |
Tfam |
transcription factor A, mitochondrial |
severity |
ISO |
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RGD |
PMID:22354563 |
RGD:6767572 |
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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G |
Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:spinal cord |
RGD |
PMID:13678668 |
RGD:12904653 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf21 |
TNF receptor superfamily member 21 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24113175 |
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NCBI chr 9:17,879,156...17,954,085
Ensembl chr 9:17,879,156...17,954,085
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G |
Tnip1 |
TNFAIP3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
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G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17434459 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to |
ClinVar |
PMID:16051700 PMID:19405049 PMID:25741868 |
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NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
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G |
Tuba4a |
tubulin, alpha 4A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
CTD ClinVar |
PMID:25741868 PMID:28478440 |
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NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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G |
Txnrd1 |
thioredoxin reductase 1 |
susceptibility |
ISO |
DNA:SNPs:intron:rs6539137, rs4630362 (human) |
RGD |
PMID:18996185 |
RGD:5685032 |
NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
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G |
Ubb |
ubiquitin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22994484 |
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NCBI chr10:47,247,629...47,249,335
Ensembl chr10:47,245,637...47,249,333
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G |
Ubqln2 |
ubiquilin 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis |
ClinVar RGD |
PMID:21857683 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 PMID:28492532 PMID:21857683 More...
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RGD:5147832 |
NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505
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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 RGD |
PMID:19734901 PMID:25741868 PMID:20385924 PMID:19734901 |
RGD:5686382, RGD:5686384 |
NCBI chr16:18,336,229...18,381,811
Ensembl chr16:18,336,229...18,381,872
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G |
Vapb |
VAMP associated protein B and C |
|
ISO |
DNA:missense mutation:cds:p.P56S (human) |
RGD |
PMID:15372378 |
RGD:5688230 |
NCBI chr 3:162,536,090...162,578,738
Ensembl chr 3:162,535,905...162,573,763
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G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Charcot disease |
ClinVar |
PMID:18845250 PMID:23333620 PMID:25617006 PMID:25741868 PMID:28492532 PMID:33144514 More...
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Vdr |
vitamin D receptor |
susceptibility |
ISO |
DNA:SNP:intron:rs7975232(human) |
RGD |
PMID:26190642 |
RGD:11560790 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:16410746 |
RGD:1580568 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Zfp106 |
zinc finger protein 106 |
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ISS |
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MouseDO |
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NCBI chr 3:107,459,232...107,510,494
Ensembl chr 3:107,462,096...107,510,481
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G |
Atp5po |
ATP synthase peripheral stalk subunit OSCP |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
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G |
Bcl2l1 |
Bcl2-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
Bsg |
basigin (Ok blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
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G |
Calb2 |
calbindin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438
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G |
Casp1 |
caspase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Cbr1 |
carbonyl reductase 1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:32,876,563...32,884,234
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G |
Cbr3 |
carbonyl reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875
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G |
Cd68 |
Cd68 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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G |
Cd7 |
Cd7 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr10:106,304,046...106,306,963
Ensembl chr10:106,304,056...106,306,967
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G |
Cfap298 |
cilia and flagella associated protein 298 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
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G |
Chaf1b |
chromatin assembly factor 1 subunit B |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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G |
Cldn14 |
claudin 14 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
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G |
Clic6 |
chloride intracellular channel 6 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
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G |
Clu |
clusterin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Cntf |
ciliary neurotrophic factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11951178 |
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NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
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G |
Crebbp |
CREB binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Cryzl1 |
crystallin zeta like 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867
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G |
Cst3 |
cystatin C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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G |
Ctsd |
cathepsin D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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G |
Dbx1 |
developing brain homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 1:99,349,608...99,354,038
Ensembl chr 1:99,349,608...99,354,038
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G |
Dctn1 |
dynactin subunit 1 |
|
ISO |
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
OMIM ClinVar |
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16240349 PMID:16505168 PMID:17576681 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:18852346 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:23881933 PMID:24484619 PMID:24627108 PMID:24881494 PMID:25025039 PMID:25299611 PMID:25382069 PMID:25590979 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:26742954 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28166811 PMID:28251916 PMID:28430856 PMID:28492532 PMID:28709720 PMID:28717666 PMID:28792508 PMID:29089398 PMID:29339765 PMID:29525180 PMID:29738522 PMID:30373780 PMID:31996268 PMID:32023010 PMID:32028661 PMID:32402491 PMID:33369814 More...
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NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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G |
Dnajc28 |
DnaJ heat shock protein family (Hsp40) member C28 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441
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G |
Donson |
DNA replication fork stabilization factor DONSON |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
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G |
Dop1b |
DOP1 leucine zipper like protein B |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931
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G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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G |
Eva1c |
eva-1 homolog C |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596
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G |
Fancg |
FA complementation group G |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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G |
Fgf6 |
fibroblast growth factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
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G |
Fig4 |
FIG4 phosphoinositide 5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
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NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
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G |
Fmo1 |
flavin containing dimethylaniline monoxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17127561 |
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NCBI chr13:75,182,184...75,214,439
Ensembl chr13:75,182,176...75,214,647
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G |
Folh1 |
folate hydrolase 1 |
treatment |
ISO |
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RGD |
PMID:12876198 |
RGD:737756 |
NCBI chr 1:140,428,101...140,501,563
Ensembl chr 1:140,428,101...140,501,379
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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G |
Fus |
Fus RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
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G |
Gart |
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
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G |
Gbx2 |
gastrulation brain homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 9:90,509,633...90,512,212
Ensembl chr 9:90,509,633...90,512,212
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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G |
Gfap |
glial fibrillary acidic protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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G |
Gria3 |
glutamate ionotropic receptor AMPA type subunit 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15264227 |
|
NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096
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G |
Gsx2 |
GS homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr14:33,123,799...33,126,151
Ensembl chr14:33,124,381...33,126,105
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G |
Hlcs |
holocarboxylase synthetase |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222
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G |
Hsf1 |
heat shock transcription factor 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24256636 |
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NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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G |
Hunk |
hormonally upregulated Neu-associated kinase |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:29,641,051...29,758,392
Ensembl chr11:29,640,775...29,757,526
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G |
Ifnar1 |
interferon alpha and beta receptor subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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G |
Ifnar2 |
interferon alpha and beta receptor subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
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G |
Ifngr2 |
interferon gamma receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
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G |
Il10rb |
interleukin 10 receptor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
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G |
Ina |
internexin neuronal intermediate filament protein, alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
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G |
Itsn1 |
intersectin 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
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G |
Jak3 |
Janus kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Jund |
JunD proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799
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G |
Kcne1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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G |
Kcne2 |
potassium voltage-gated channel subfamily E regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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G |
Kcnj6 |
potassium inwardly-rectifying channel, subfamily J, member 6 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:34,061,705...34,309,128
Ensembl chr11:34,061,708...34,308,758
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G |
Kif3c |
kinesin family member 3C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130
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G |
Kif5a |
kinesin family member 5A |
|
ISO |
mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) |
RGD |
PMID:23006449 |
RGD:12798528 |
NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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G |
Kif5c |
kinesin family member 5C |
|
ISO |
mRNA:increased expression:frontal cortex, cerebellum (mouse) |
RGD |
PMID:23006449 |
RGD:12798528 |
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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G |
Lat |
linker for activation of T cells |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
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G |
Ldlr |
low density lipoprotein receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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G |
Masp2 |
MBL associated serine protease 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
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G |
Mis18a |
MIS18 kinetochore protein A |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062
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G |
Morc3 |
MORC family CW-type zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:33,151,906...33,194,646
Ensembl chr11:33,152,025...33,194,646
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G |
Mrap |
melanocortin 2 receptor accessory protein |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
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G |
Mrps6 |
mitochondrial ribosomal protein S6 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
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G |
Nefh |
neurofilament heavy chain |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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G |
Olig1 |
oligodendrocyte transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521
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G |
Olig2 |
oligodendrocyte transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
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G |
Otog |
otogelin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415
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G |
Paxbp1 |
PAX3 and PAX7 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
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G |
Pdgfa |
platelet derived growth factor subunit A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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G |
Penk |
proenkephalin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129
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G |
Pigp |
phosphatidylinositol glycan anchor biosynthesis, class P |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:33,682,943...33,689,071
Ensembl chr11:33,682,948...33,689,321
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G |
Pon1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17204329 |
|
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Prph |
peripherin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr 7:130,218,149...130,222,136
Ensembl chr 7:130,218,357...130,222,136
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G |
Rcan1 |
regulator of calcineurin 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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G |
RGD1562726 |
similar to Putative protein C21orf62 homolog |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439
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G |
Ripply3 |
ripply transcriptional repressor 3 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:33,648,471...33,656,587
Ensembl chr11:33,648,486...33,656,584
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G |
Runx1 |
RUNX family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Rxra |
retinoid X receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
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G |
Scaf4 |
SR-related CTD-associated factor 4 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153
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G |
Selplg |
selectin P ligand |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr12:42,796,690...42,809,908
Ensembl chr12:42,796,580...42,812,585
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G |
Serpina3n |
serine (or cysteine) peptidase inhibitor, clade A, member 3N |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 6:123,323,632...123,331,166
Ensembl chr 6:123,323,629...123,332,433
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G |
Setd4 |
SET domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
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G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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G |
Shc1 |
SHC adaptor protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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G |
Sim2 |
SIM bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
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G |
Six2 |
SIX homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193
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G |
Slc5a3 |
solute carrier family 5 member 3 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
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G |
Smim11 |
small integral membrane protein 11 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
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G |
Snai1 |
snail family transcriptional repressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
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G |
Sncg |
synuclein, gamma |
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ISS |
OMIM:105400 |
MouseDO |
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NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.D90A (human) DNA:missense mutations:cds:multiple (human) DNA:missense mutation:cds:p.I113T (human) |
OMIM ClinVar CTD RGD |
PMID:1248932 PMID:1259395 PMID:1463506 PMID:2517465 PMID:7496169 PMID:7501156 PMID:7635196 PMID:7643359 PMID:7647793 PMID:7655469 PMID:7655471 PMID:7673954 PMID:7755363 PMID:7836951 PMID:7881433 PMID:7887412 PMID:7891072 PMID:7911198 PMID:7951249 PMID:7951252 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:8891072 PMID:8900247 PMID:8907321 PMID:8909456 PMID:8938700 PMID:8967745 PMID:8971099 PMID:8990014 PMID:9008494 PMID:9029070 PMID:9052802 PMID:9065559 PMID:9101297 PMID:9228005 PMID:9365366 PMID:9409355 PMID:9455977 PMID:9556377 PMID:9743498 PMID:9817920 PMID:9857958 PMID:10321246 PMID:10400992 PMID:10430435 PMID:10439968 PMID:10540008 PMID:10593307 PMID:10624810 PMID:10732812 PMID:10735277 PMID:10764647 PMID:10809943 PMID:10889018 PMID:11181815 PMID:11220750 PMID:11284995 PMID:11304046 PMID:11346368 PMID:11369193 PMID:11464950 PMID:11467054 PMID:11675877 PMID:11676987 PMID:11796754 PMID:11854285 PMID:11951178 PMID:11997070 PMID:12039658 PMID:12127151 PMID:12165567 PMID:12215228 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:14517684 PMID:14623191 PMID:14658402 PMID:14755739 PMID:14875225 PMID:14970233 PMID:15050437 PMID:15056757 PMID:15069187 PMID:15096637 PMID:15208263 PMID:15258228 PMID:15264227 PMID:15465081 PMID:15522870 PMID:15579468 PMID:15634772 PMID:15952898 PMID:15987780 PMID:16020530 PMID:16035108 PMID:16038516 PMID:16105836 PMID:16291929 PMID:16423367 PMID:16476815 PMID:16674979 PMID:16793335 PMID:16945901 PMID:16963403 PMID:17146286 PMID:17255946 PMID:17257622 PMID:17319283 PMID:17333220 PMID:17394531 PMID:17420412 PMID:17483589 PMID:17486090 PMID:17513298 PMID:17543992 PMID:17888947 PMID:18055113 PMID:18273717 PMID:18301754 PMID:18319614 PMID:18428003 PMID:18504130 PMID:18608106 PMID:18666828 PMID:18669821 PMID:18703498 PMID:18951903 PMID:19063897 PMID:19074999 PMID:19165329 PMID:19176896 PMID:19227972 PMID:19259395 PMID:19332692 PMID:19344917 PMID:19363716 PMID:19483195 PMID:19488901 PMID:19618436 PMID:19635794 PMID:19703565 PMID:19800308 PMID:19815002 PMID:19847927 PMID:19922144 PMID:19922148 PMID:19965850 PMID:20075587 PMID:20079423 PMID:20184515 PMID:20184521 PMID:20184893 PMID:20189984 PMID:20309572 PMID:20399791 PMID:20404329 PMID:20404910 PMID:20460594 PMID:20472325 PMID:20485746 PMID:20540686 PMID:20562451 PMID:20577002 PMID:21073275 PMID:21120636 PMID:21140194 PMID:21226712 PMID:21257910 PMID:21329474 PMID:21506602 PMID:21549128 PMID:21549454 PMID:21574856 PMID:21603025 PMID:21651514 PMID:21700707 PMID:21700728 PMID:21755517 PMID:21901496 PMID:22094223 PMID:22244934 PMID:22264771 PMID:22292843 PMID:22332887 PMID:22475618 PMID:22499346 PMID:22595972 PMID:22632445 PMID:22647583 PMID:22941224 PMID:22985433 PMID:23062701 PMID:23100398 PMID:23264618 PMID:23280792 PMID:23286750 PMID:23291526 PMID:23447461 PMID:23541756 PMID:23612299 PMID:23726301 PMID:23744890 PMID:23773010 PMID:23792044 PMID:23837654 PMID:23869403 PMID:23872456 PMID:23873540 PMID:23949607 PMID:23962495 PMID:24094577 PMID:24134191 PMID:24163136 PMID:24256636 PMID:24312616 PMID:24325798 PMID:24369116 PMID:24439480 PMID:24472010 PMID:24908169 PMID:24971881 PMID:25025039 PMID:25052939 PMID:25109764 PMID:25174650 PMID:25178511 PMID:25299611 PMID:25382069 PMID:25509359 PMID:25572957 PMID:25578810 PMID:25585530 PMID:25600987 PMID:25623562 PMID:25681989 PMID:25741868 PMID:25792239 PMID:25806427 PMID:26069299 PMID:26362407 PMID:26467025 PMID:26551617 PMID:26601740 PMID:26622980 PMID:26694608 PMID:26733601 PMID:26742954 PMID:26791423 PMID:26843957 PMID:27154192 PMID:27257061 PMID:27261500 PMID:27348463 PMID:27470954 PMID:27604643 PMID:27884173 PMID:27974499 PMID:27978769 PMID:28089114 PMID:28105640 PMID:28222900 PMID:28291249 PMID:28430856 PMID:28492532 PMID:28620717 PMID:28709720 PMID:29149916 PMID:29411640 PMID:29564924 PMID:29650794 PMID:29861044 PMID:29895397 PMID:30626575 PMID:30637102 PMID:31134679 PMID:31170830 PMID:31781168 PMID:31788332 PMID:32166880 PMID:32579787 PMID:32619288 PMID:32672072 PMID:32951934 PMID:32987860 PMID:33479441 PMID:34721532 PMID:10809943 PMID:8815157 PMID:20184521 PMID:8446170 More...
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RGD:8655873, RGD:8655862, RGD:8655618, RGD:737689 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
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ISS |
OMIM:105400 |
MouseDO |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Son |
SON DNA and RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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G |
Synj1 |
synaptojanin 1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:30,192,629...30,269,277
Ensembl chr11:30,192,629...30,269,220
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G |
Tardbp |
TAR DNA binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
CTD ClinVar |
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 PMID:24033266 PMID:24477737 PMID:26467025 PMID:28492532 More...
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NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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G |
Tiam1 |
TIAM Rac1 associated GEF 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
CTD ClinVar |
PMID:11796754 PMID:28492532 |
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NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901
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G |
Tle3 |
TLE family member 3, transcriptional corepressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493
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G |
Tmem50b |
transmembrane protein 50B |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661
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G |
Tmsb4x |
thymosin beta 4, X-linked |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr X:27,144,677...27,146,667
Ensembl chr X:27,128,610...27,146,667
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Ttc3 |
tetratricopeptide repeat domain 3 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975
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G |
Ubqln2 |
ubiquilin 2 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
PMID:19377476 PMID:22560112 PMID:23138764 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505
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G |
Unc13a |
unc-13 homolog A |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr16:18,336,229...18,381,811
Ensembl chr16:18,336,229...18,381,872
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G |
Urb1 |
URB1 ribosome biogenesis homolog |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
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G |
Vapb |
VAMP associated protein B and C |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant |
ClinVar |
|
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NCBI chr 3:162,536,090...162,578,738
Ensembl chr 3:162,535,905...162,573,763
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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 |
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Vegfa |
vascular endothelial growth factor A |
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ISS |
OMIM:105400 |
MouseDO |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Vim |
vimentin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
Vps26c |
VPS26 endosomal protein sorting factor C |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:33,813,467...33,841,883
Ensembl chr11:33,792,389...33,841,447
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G |
Vps54 |
VPS54 subunit of GARP complex |
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ISS |
OMIM:105400 |
MouseDO |
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NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857
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G |
Wnt7a |
Wnt family member 7A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
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NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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G |
Xiap |
X-linked inhibitor of apoptosis |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11796754 |
|
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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G |
Ang |
angiogenin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 |
ClinVar |
PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532 |
|
NCBI chr15:24,317,733...24,323,361
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G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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G |
Grn |
granulin precursor |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 |
ClinVar |
PMID:16862116 PMID:16950801 PMID:17698705 PMID:22608501 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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G |
Masp2 |
MBL associated serine protease 2 |
|
ISO |
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA |
ClinVar |
|
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NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
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G |
Optn |
optineurin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 |
ClinVar |
PMID:25741868 |
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NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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G |
Prph |
peripherin |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:130,218,149...130,222,136
Ensembl chr 7:130,218,357...130,222,136
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G |
Rnase4 |
ribonuclease A family member 4 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 |
ClinVar |
PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532 |
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NCBI chr15:24,312,765...24,330,116
Ensembl chr15:24,312,464...24,330,117
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 |
ClinVar |
PMID:7891072 PMID:8351519 PMID:8446170 PMID:9008494 PMID:9029070 PMID:11464950 PMID:11467054 PMID:12729761 PMID:12732844 PMID:12963370 PMID:14506936 PMID:14658402 PMID:15634772 PMID:17319283 PMID:19483195 PMID:20079423 PMID:20184515 PMID:21257910 PMID:21506602 PMID:21700707 PMID:21901496 PMID:22292843 PMID:22332887 PMID:22647583 PMID:23280792 PMID:23291526 PMID:23447461 PMID:23837654 PMID:24369116 PMID:24472010 PMID:25578810 PMID:25741868 PMID:26362407 PMID:26467025 PMID:26742954 PMID:26791423 PMID:28105640 PMID:28291249 PMID:28492532 More...
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Tardbp |
TAR DNA binding protein |
|
ISO |
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | 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 term: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
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:19236453 PMID:19350673 PMID:19411082 PMID:19429692 PMID:19515851 PMID:19609911 PMID:19618195 PMID:19655382 PMID:19695877 PMID:19760257 PMID:19786775 PMID:19808791 PMID:19833869 PMID:19864663 PMID:19864664 PMID:19959528 PMID:20031275 PMID:20082726 PMID:20301761 PMID:20472325 PMID:20555136 PMID:20558945 PMID:20577002 PMID:20624952 PMID:20645878 PMID:20675015 PMID:20697052 PMID:20708823 PMID:20806063 PMID:20959352 PMID:21173160 PMID:21220647 PMID:21403029 PMID:21651514 PMID:21666678 PMID:21752789 PMID:21829392 PMID:21857683 PMID:21943958 PMID:22121224 PMID:22406069 PMID:22456481 PMID:22539580 PMID:22563080 PMID:22575358 PMID:22645277 PMID:22722621 PMID:23100398 PMID:23231971 PMID:23235148 PMID:23327806 PMID:23345247 PMID:23356346 PMID:23457265 PMID:23692129 PMID:23721326 PMID:23881933 PMID:24117534 PMID:24143176 PMID:24237396 PMID:24440310 PMID:24477737 PMID:24507191 PMID:25090004 PMID:25138285 PMID:25375143 PMID:25408367 PMID:25442115 PMID:25588603 PMID:25681989 PMID:25741868 PMID:25792239 PMID:26096467 PMID:26467025 PMID:26581115 PMID:26777436 PMID:26883171 PMID:27348499 PMID:27570075 PMID:28089114 PMID:28286471 PMID:28334913 PMID:28335005 PMID:28430856 PMID:28492532 PMID:28573484 PMID:28709720 PMID:28889094 PMID:29091718 PMID:29411640 PMID:29419416 PMID:29525180 PMID:29630989 PMID:29650794 PMID:29801890 PMID:29895397 PMID:30324134 PMID:30442180 PMID:30773994 PMID:31852254 PMID:31996268 PMID:32166880 PMID:32409511 PMID:32843152 PMID:33159016 PMID:33301444 PMID:33479441 PMID:33770234 More...
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NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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Tuba4a |
tubulin, alpha 4A |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 |
ClinVar |
PMID:25741868 |
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NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Fig4 |
FIG4 phosphoinositide 5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11 |
OMIM ClinVar |
PMID:9536098 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 PMID:18556664 PMID:19118816 PMID:20301641 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22998443 PMID:23165282 PMID:23336365 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24878229 PMID:25382069 PMID:25448007 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26467025 PMID:26662798 PMID:27447704 PMID:27549087 PMID:28051077 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29342275 PMID:29468183 PMID:29650794 PMID:30373780 PMID:30792901 PMID:31313076 PMID:31743256 PMID:32022442 PMID:32376792 PMID:32385536 PMID:33502061 PMID:34426522 More...
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NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
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Optn |
optineurin |
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ISO |
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | 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:15312511 PMID:15326130 PMID:15370540 PMID:15547491 PMID:15557444 PMID:15761120 PMID:16148883 PMID:16205626 PMID:16358725 PMID:16619239 PMID:16885925 PMID:17122126 PMID:17293779 PMID:17359525 PMID:17389490 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:27485216 PMID:28492532 PMID:29411640 PMID:29650794 PMID:31108397 PMID:31198474 PMID:31838784 PMID:32579787 PMID:32893042 More...
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NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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Arid3c |
AT-rich interaction domain 3C |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,890,042...56,895,888
Ensembl chr 5:56,890,042...56,895,888
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Ccl19 |
C-C motif chemokine ligand 19 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl21 |
C-C motif chemokine ligand 21 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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Ccl27 |
C-C motif chemokine ligand 27 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Cntfr |
ciliary neurotrophic factor receptor |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,823,448...56,861,075
Ensembl chr 5:56,823,965...56,841,392
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Dctn3 |
dynactin subunit 3 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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Dnai1 |
dynein, axonemal, intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,176,840...57,185,492
Ensembl chr 5:57,176,845...57,185,490
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Enho |
energy homeostasis associated |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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Galt |
galactose-1-phosphate uridylyltransferase |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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LOC100360821 |
rCG55159-like |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,199,931...57,203,964
Ensembl chr 5:57,200,000...57,204,070
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Phf24 |
PHD finger protein 24 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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Rpp25l |
ribonuclease P/MRP subunit p25 like |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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Sigmar1 |
sigma non-opioid intracellular receptor 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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Spata31f1 |
SPATA31 subfamily F member 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,065,739...57,071,880
Ensembl chr 5:57,065,747...57,071,738
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Vcp |
valosin-containing protein |
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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 term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
OMIM ClinVar |
PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17576681 PMID:17763460 PMID:17889967 PMID:18341608 PMID:18845250 PMID:19208399 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21249466 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22572540 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23000505 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24123792 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:25878907 PMID:26105173 PMID:26467025 PMID:26555887 PMID:26627873 PMID:26809617 PMID:27165006 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28692196 PMID:28709720 PMID:29127544 PMID:29754758 PMID:30103325 PMID:30270202 PMID:30279455 PMID:30293881 PMID:31687228 PMID:31848255 PMID:32481679 PMID:33144514 More...
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Ubqln2 |
ubiquilin 2 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 |
OMIM ClinVar |
PMID:19377476 PMID:21857683 PMID:22560112 PMID:23138764 PMID:23312802 PMID:24771548 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 PMID:26467025 PMID:28492532 PMID:34273246 More...
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NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505
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Sigmar1 |
sigma non-opioid intracellular receptor 1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16 |
OMIM ClinVar |
PMID:21842496 PMID:24088041 PMID:25704016 PMID:25741868 PMID:26205306 PMID:26633545 PMID:27042935 PMID:27402882 PMID:27629094 PMID:27821430 PMID:28492532 PMID:28622300 PMID:28708278 PMID:31511340 PMID:31696229 PMID:32055286 PMID:32579787 PMID:33020464 More...
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NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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Pfn1 |
profilin 1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 18 |
OMIM ClinVar |
PMID:22801503 PMID:25741868 PMID:26908597 PMID:28492532 PMID:31346562 PMID:31991009 PMID:32392277 PMID:32589291 More...
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NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
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Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 |
OMIM ClinVar |
PMID:24119685 PMID:25741868 PMID:28492532 PMID:32579787 |
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NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Hnrnpa1 |
heterogeneous nuclear ribonucleoprotein A1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20 |
OMIM ClinVar |
PMID:23455423 |
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NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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Matr3 |
matrin 3 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 |
OMIM ClinVar |
PMID:9536098 PMID:9837826 PMID:17576681 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:28029397 PMID:28166811 PMID:28492532 PMID:29109432 PMID:30015619 PMID:30563574 PMID:31019288 More...
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NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166
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Tuba4a |
tubulin, alpha 4A |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 |
OMIM ClinVar |
PMID:25374358 |
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NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Anxa11 |
annexin A11 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 |
OMIM ClinVar |
PMID:25741868 PMID:28469040 PMID:28492532 PMID:29650794 PMID:29845112 PMID:30109997 PMID:33087501 PMID:34048612 More...
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NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797
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Nek1 |
NIMA-related kinase 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24 |
OMIM ClinVar |
PMID:21211617 PMID:22499340 PMID:24033266 PMID:25741868 PMID:26945885 PMID:27455347 PMID:28089114 PMID:28123176 PMID:28492532 PMID:29068549 More...
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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Kif5a |
kinesin family member 5A |
susceptibility |
ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29342275 PMID:29566793 |
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NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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Tia1 |
TIA1 cytotoxic granule-associated RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia |
OMIM ClinVar |
PMID:28817800 |
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NCBI chr 4:118,852,765...118,883,252
Ensembl chr 4:118,852,837...118,880,586
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Fus |
Fus RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 DNA:mutations:cds: |
OMIM ClinVar RGD |
PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 PMID:19251627 PMID:19251628 PMID:19450904 PMID:19741215 PMID:19741216 PMID:19861302 PMID:20018407 PMID:20124201 PMID:20138404 PMID:20142531 PMID:20232451 PMID:20385912 PMID:20544928 PMID:20577002 PMID:20579074 PMID:20598774 PMID:20606625 PMID:20621307 PMID:20660363 PMID:20668259 PMID:20668261 PMID:20674093 PMID:20699327 PMID:21158017 PMID:21261515 PMID:21280085 PMID:21487023 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21943958 PMID:21949354 PMID:21965298 PMID:22055719 PMID:22292843 PMID:22340366 PMID:22645277 PMID:22722621 PMID:22863194 PMID:22980027 PMID:23046859 PMID:23056579 PMID:23085990 PMID:23217123 PMID:23545117 PMID:23577159 PMID:23731953 PMID:23834335 PMID:23834483 PMID:23881933 PMID:24033266 PMID:24080306 PMID:24204307 PMID:24262168 PMID:24439481 PMID:24575823 PMID:24899262 PMID:25173930 PMID:25274782 PMID:25324524 PMID:25382069 PMID:25457557 PMID:25525159 PMID:25558820 PMID:25585530 PMID:25625564 PMID:25631824 PMID:25741868 PMID:26251528 PMID:26452761 PMID:26467025 PMID:26500017 PMID:26725112 PMID:26788680 PMID:26795035 PMID:27123482 PMID:27604643 PMID:28429524 PMID:28430856 PMID:28492532 PMID:29547565 PMID:30279455 PMID:30349096 PMID:30455313 PMID:30507891 PMID:30879340 PMID:31682085 PMID:32116048 PMID:32638105 PMID:32951934 PMID:33082139 PMID:19251628 More...
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RGD:9685712 |
NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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Vcp |
valosin-containing protein |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 |
ClinVar |
PMID:30103325 |
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Apcdd1l |
APC down-regulated 1 like |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:162,587,484...162,658,362
Ensembl chr 3:162,582,252...162,658,073
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Atp5f1e |
ATP synthase F1 subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,259,072...163,261,974
Ensembl chr 3:163,260,476...163,261,450
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G |
Ctsz |
cathepsin Z |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,224,875...163,235,645
Ensembl chr 3:163,224,875...163,235,645
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G |
Edn3 |
endothelin 3 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
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Gnas |
GNAS complex locus |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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G |
Mir296 |
microRNA 296 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,051,838...163,051,915
Ensembl chr 3:163,051,838...163,051,915
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Mir298 |
microRNA 298 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,052,291...163,052,372
Ensembl chr 3:163,052,291...163,052,372
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G |
Nelfcd |
negative elongation factor complex member C/D |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,213,765...163,224,886
Ensembl chr 3:163,213,762...163,224,884
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G |
Npepl1 |
aminopeptidase-like 1 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:162,893,891...162,906,492
Ensembl chr 3:162,893,943...162,906,492
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Prelid3b |
PRELI domain containing 3B |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,263,059...163,271,055
Ensembl chr 3:163,262,985...163,271,181
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Stx16 |
syntaxin 16 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489
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Tubb1 |
tubulin, beta 1 class VI |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
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Vapb |
VAMP associated protein B and C |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
OMIM ClinVar |
PMID:9536098 PMID:15372378 PMID:16187141 PMID:16967488 PMID:17576681 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:28166811 PMID:28492532 More...
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NCBI chr 3:162,536,090...162,578,738
Ensembl chr 3:162,535,905...162,573,763
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Zfp831 |
zinc finger protein 831 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,393,787...163,510,654
Ensembl chr 3:163,438,006...163,509,095
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Ang |
angiogenin |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 |
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:22722621 PMID:23047679 PMID:23155438 PMID:23393617 PMID:23447461 PMID:23463871 PMID:23665167 PMID:25382069 PMID:25741868 PMID:26255299 PMID:26467025 PMID:26551617 PMID:26777436 PMID:28444446 PMID:28492532 PMID:29525178 PMID:30188356 PMID:31368019 PMID:31432357 PMID:32111867 PMID:32579787 PMID:32951934 More...
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NCBI chr15:24,317,733...24,323,361
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Rnase4 |
ribonuclease A family member 4 |
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ISO |
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:22722621 PMID:23047679 PMID:23155438 PMID:23393617 PMID:23447461 PMID:23463871 PMID:23665167 PMID:25382069 PMID:25741868 PMID:26255299 PMID:26467025 PMID:26551617 PMID:26777436 PMID:28444446 PMID:28492532 PMID:29525178 PMID:30188356 PMID:31368019 PMID:31432357 PMID:32111867 PMID:32579787 PMID:32951934 More...
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NCBI chr15:24,312,765...24,330,116
Ensembl chr15:24,312,464...24,330,117
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Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Optn |
optineurin |
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ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive |
ClinVar |
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NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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Park7 |
Parkinsonism associated deglycase |
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ISO |
ClinVar Annotator: match by term: Guam disease |
ClinVar |
PMID:25741868 |
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NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
susceptibility no_association |
ISO |
DNA:mutation:cds: p.T1482I (human) ClinVar Annotator: match by term: Guam disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:25741868 PMID:28492532 PMID:16051700 PMID:19405049 |
RGD:5685005, RGD:5685008 |
NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
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Kif1b |
kinesin family member 1B |
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ISO |
ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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Vapb |
VAMP associated protein B and C |
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ISO |
ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant |
OMIM ClinVar |
PMID:15372378 PMID:16187141 PMID:16967488 PMID:17804640 PMID:18322265 PMID:18677189 PMID:19183264 PMID:20008544 PMID:20377183 PMID:20447143 PMID:20577002 PMID:21275991 PMID:21685205 PMID:21933185 PMID:22131369 PMID:22258555 PMID:22454507 PMID:22878164 PMID:23333387 PMID:23446633 PMID:23771029 PMID:23971766 PMID:24212516 PMID:24681403 PMID:25741868 PMID:26467025 PMID:26566915 PMID:27978769 PMID:28492532 More...
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NCBI chr 3:162,536,090...162,578,738
Ensembl chr 3:162,535,905...162,573,763
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Bicd2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:24336790 PMID:25497877 PMID:25741868 PMID:26467025 PMID:27549087 PMID:27784775 PMID:28251916 PMID:28492532 PMID:28832565 PMID:32581362 More...
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NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:23664120 PMID:25326635 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25609763 PMID:25741868 PMID:26100331 PMID:27066557 PMID:27549087 PMID:28492532 PMID:28554554 PMID:29671837 PMID:32788638 More...
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Fig4 |
FIG4 phosphoinositide 5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
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NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
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Gars1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:17101916 PMID:20301420 PMID:22462675 PMID:25168514 |
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NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:2545169 PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20859832 PMID:22157136 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24342282 PMID:24388491 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26467025 PMID:26709713 PMID:27450922 PMID:28403181 PMID:28492532 PMID:29761130 More...
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NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
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Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:25741868 PMID:25886484 PMID:28152038 PMID:28492532 |
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Morc2 |
MORC family CW-type zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:28492532 |
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NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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Nefl |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
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NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:19696032 PMID:22088787 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy |
ClinVar |
PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21454511 PMID:22065612 PMID:22291064 PMID:22526352 PMID:22702953 PMID:24319099 PMID:24789864 PMID:25741868 PMID:26048687 PMID:26467025 PMID:26948711 PMID:28492532 PMID:31041394 PMID:31191204 PMID:31468327 PMID:32579787 More...
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Slc52a2 |
solute carrier family 52 member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
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Slc52a3 |
solute carrier family 52 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
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Csnk2a1 |
casein kinase 2 alpha 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
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NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
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Rbck1 |
RANBP2-type and C3HC4-type zinc finger containing 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
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NCBI chr 3:140,789,079...140,806,017
Ensembl chr 3:140,789,080...140,806,005
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Scrt2 |
scratch family transcriptional repressor 2 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
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NCBI chr 3:140,581,593...140,593,299
Ensembl chr 3:140,581,593...140,593,299
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Slc52a2 |
solute carrier family 52 member 2 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:24253200 PMID:25741868 PMID:27148561 PMID:28492532 |
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NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
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Slc52a3 |
solute carrier family 52 member 3 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
OMIM ClinVar |
PMID:9536098 PMID:16122634 PMID:17576681 PMID:20206331 PMID:20920669 PMID:21110228 PMID:21512156 PMID:22273710 PMID:22633641 PMID:22718020 PMID:22740598 PMID:22824638 PMID:23107375 PMID:23688382 PMID:24033266 PMID:24239381 PMID:25462087 PMID:25741868 PMID:26072523 PMID:26443808 PMID:27702554 PMID:27777325 PMID:28251916 PMID:28492532 PMID:29053833 PMID:29501408 PMID:32579787 PMID:33189404 PMID:33325104 More...
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NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
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Srxn1 |
sulfiredoxin 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
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NCBI chr 3:140,604,490...140,610,050
Ensembl chr 3:140,599,608...140,628,448
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Tbc1d20 |
TBC1 domain family, member 20 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
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NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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Tcf15 |
transcription factor 15 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
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NCBI chr 3:140,638,984...140,644,766
Ensembl chr 3:140,638,984...140,644,766
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Adck5 |
aarF domain containing kinase 5 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,301,623...108,319,439
Ensembl chr 7:108,301,415...108,319,436
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Bop1 |
BOP1 ribosomal biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931
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Ccdc166 |
coiled-coil domain containing 166 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,693,572...107,695,375
Ensembl chr 7:107,693,574...107,695,375
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Cpsf1 |
cleavage and polyadenylation specific factor 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,319,429...108,330,023
Ensembl chr 7:108,319,434...108,329,934
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Cyc1 |
cytochrome c-1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,067,106...108,069,483
Ensembl chr 7:108,067,115...108,069,479
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Dgat1 |
diacylglycerol O-acyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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Eef1d |
eukaryotic translation elongation factor 1 delta |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,581,930...107,596,735
Ensembl chr 7:107,581,930...107,608,799
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Eppk1 |
epiplakin 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,816,919...107,842,946
Ensembl chr 7:107,817,693...107,831,159
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Exosc4 |
exosome component 4 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,047,831...108,050,573
Ensembl chr 7:108,047,831...108,050,573
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Fam83h |
family with sequence similarity 83, member H |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Fbxl6 |
F-box and leucine-rich repeat protein 6 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,259,097...108,262,528
Ensembl chr 7:108,257,160...108,262,513
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Foxh1 |
forkhead box H1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
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Gfus |
GDP-L-fucose synthase |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,612,087...107,617,005
Ensembl chr 7:107,612,094...107,616,948
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Gli4 |
GLI family zinc finger 4 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,325,584...107,330,911
Ensembl chr 7:107,325,607...107,330,907
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G |
Gpaa1 |
glycosylphosphatidylinositol anchor attachment 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484
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G |
Gpihbp1 |
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702
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G |
Grina |
glutamate ionotropic receptor NMDA type subunit associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,962,194...107,965,368
Ensembl chr 7:107,962,207...107,965,366
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G |
Gsdmd |
gasdermin D |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,542,242...107,547,052
Ensembl chr 7:107,542,083...107,547,055
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G |
Hgh1 |
HGH1 homolog |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,091,918...108,094,740
Ensembl chr 7:108,091,951...108,094,737
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G |
Hsf1 |
heat shock transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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G |
Kifc2 |
kinesin family member C2 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,380,634...108,388,364
Ensembl chr 7:108,376,011...108,388,484
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G |
Maf1 |
MAF1 homolog, negative regulator of RNA polymerase III |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,075,173...108,078,252
Ensembl chr 7:108,075,189...108,078,249
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G |
Mafa |
MAF bZIP transcription factor A |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,432,292...107,435,061
Ensembl chr 7:107,433,605...107,434,690
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G |
Mapk15 |
mitogen-activated protein kinase 15 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,694,907...107,714,640
Ensembl chr 7:107,694,964...107,714,645
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G |
Mroh1 |
maestro heat-like repeat family member 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,098,708...108,172,146
Ensembl chr 7:108,102,734...108,172,146
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G |
Mroh6 |
maestro heat-like repeat family member 6 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,566,212...107,576,469
Ensembl chr 7:107,569,554...107,574,173
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G |
Naprt |
nicotinate phosphoribosyltransferase |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,576,645...107,580,102
Ensembl chr 7:107,576,627...107,580,102
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G |
Nrbp2 |
nuclear receptor binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,798,642...107,805,230
Ensembl chr 7:107,799,497...107,805,230
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G |
Oplah |
5-oxoprolinase (ATP-hydrolysing) |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297
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G |
Parp10 |
poly (ADP-ribose) polymerase family, member 10 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304
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G |
Plec |
plectin |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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G |
Puf60 |
poly-U binding splicing factor 60 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,782,770...107,793,814
Ensembl chr 7:107,782,770...107,794,531
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G |
Pycr3 |
pyrroline-5-carboxylate reductase 3 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,603,543...107,608,831
Ensembl chr 7:107,581,930...107,608,799
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G |
Rhpn1 |
rhophilin, Rho GTPase binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,391,948...107,402,713
Ensembl chr 7:107,391,984...107,402,713
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G |
Scrib |
scribble planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,759,343...107,782,364
Ensembl chr 7:107,759,343...107,782,331
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G |
Scrt1 |
scratch family transcriptional repressor 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,240,986...108,244,636
Ensembl chr 7:108,240,986...108,244,636
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G |
Scx |
scleraxis bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,176,608...108,178,626
Ensembl chr 7:108,176,608...108,178,626
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G |
Sharpin |
SHANK-associated RH domain interactor |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
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G |
Slc39a4 |
solute carrier family 39 member 4 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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G |
Slc52a2 |
solute carrier family 52 member 2 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:10797435 PMID:16199547 PMID:17576681 PMID:20301336 PMID:20447487 PMID:21109228 PMID:22740598 PMID:22824638 PMID:22864630 PMID:23107375 PMID:23243084 PMID:23289980 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:28116953 PMID:28251916 PMID:28492532 PMID:28781516 PMID:28824526 PMID:29053833 PMID:29858556 PMID:29913018 PMID:29915382 PMID:29961509 PMID:30343981 PMID:30377535 PMID:31152317 PMID:33036493 PMID:33201363 PMID:34428344 PMID:34602496 More...
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NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
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G |
Spatc1 |
spermatogenesis and centriole associated 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,980,857...108,007,716
Ensembl chr 7:107,983,796...108,007,479
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G |
Tigd5 |
tigger transposable element derived 5 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,596,724...107,599,243
Ensembl chr 7:107,596,724...107,599,243
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G |
Tmem249 |
transmembrane protein 249 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,256,535...108,259,429
Ensembl chr 7:108,257,160...108,262,513
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G |
Tonsl |
tonsoku-like, DNA repair protein |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750
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G |
Top1mt |
DNA topoisomerase I mitochondrial |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,338,092...107,368,125
Ensembl chr 7:107,342,527...107,366,049
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G |
Vps28 |
VPS28 subunit of ESCRT-I |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,341,989...108,345,837
Ensembl chr 7:108,341,989...108,345,837
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G |
Zc3h3 |
zinc finger CCCH type containing 3 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,440,694...107,525,451
Ensembl chr 7:107,440,694...107,525,451
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G |
Zfp41 |
zinc finger protein 41 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,307,303...107,320,164
Ensembl chr 7:107,306,867...107,320,270
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G |
Zfp623 |
zinc finger protein 623 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,627,296...107,636,254
Ensembl chr 7:107,627,267...107,636,321
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G |
Zfp707 |
zinc finger protein 707 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,679,597...107,686,556
Ensembl chr 7:107,650,217...107,703,459
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G |
Zftraf1 |
zinc finger TRAF-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,377,943...108,380,824
Ensembl chr 7:108,364,381...108,380,021
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G |
Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: Bent Spine Syndrome |
ClinVar |
PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 PMID:25741868 PMID:25961035 PMID:26627873 PMID:26969127 PMID:27247418 PMID:27532257 PMID:28492532 PMID:29300372 PMID:31918855 PMID:32894683 PMID:33673806 PMID:34542152 More...
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Bent Spine Syndrome |
ClinVar |
PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 PMID:19752458 PMID:19815814 PMID:20227526 PMID:20301791 PMID:20803511 PMID:21856450 PMID:21880868 PMID:22647225 PMID:22727047 PMID:23808377 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27271921 PMID:28130605 PMID:28492532 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: Bent Spine Syndrome |
ClinVar |
PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 |
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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G |
Smn1 |
survival of motor neuron 1, telomeric |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17924536 |
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NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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G |
Chmp2b |
charged multivesicular body protein 2B |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
OMIM ClinVar |
PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 PMID:16954699 PMID:17576681 PMID:17956895 PMID:20301378 PMID:20352044 PMID:20592581 PMID:20625756 PMID:21222599 PMID:22521643 PMID:22527221 PMID:23155438 PMID:25558820 PMID:25741868 PMID:26467025 PMID:26777436 PMID:26836416 PMID:28166811 PMID:28430856 PMID:28492532 PMID:29411640 PMID:29431110 PMID:29486463 PMID:29525180 PMID:30054184 More...
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NCBI chr11:3,338,007...3,364,357
Ensembl chr11:3,337,494...3,385,181
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G |
Pou1f1 |
POU class 1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
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G |
Gle1 |
GLE1 RNA export mediator |
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ISO |
ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease |
OMIM ClinVar |
PMID:18204449 PMID:24243016 PMID:24961629 PMID:25741868 PMID:27684565 PMID:28492532 PMID:28657126 PMID:28884921 PMID:29899397 More...
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NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
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G |
Dctn1 |
dynactin subunit 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor |
ClinVar |
PMID:28492532 |
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NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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G |
Hspb1 |
heat shock protein family B (small) member 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor |
ClinVar |
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NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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G |
Hspb3 |
heat shock protein family B (small) member 3 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor |
ClinVar |
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NCBI chr 2:45,295,285...45,295,999
Ensembl chr 2:45,295,053...45,296,145
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G |
Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 1 |
ClinVar |
PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 |
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NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
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G |
Emilin1 |
elastin microfibril interfacer 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type X |
OMIM ClinVar |
PMID:26462740 PMID:31978608 |
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NCBI chr 6:25,455,974...25,463,736
Ensembl chr 6:25,445,298...25,463,698
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G |
Fbxo38 |
F-box protein 38 |
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ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 |
ClinVar |
PMID:7723957 PMID:9536098 PMID:17576681 PMID:24207122 PMID:25741868 PMID:28492532 More...
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NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961
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G |
Mpz |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 |
ClinVar |
PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 PMID:10923043 PMID:11080237 PMID:12207153 PMID:12911457 PMID:12948789 PMID:15159512 PMID:15377707 PMID:16279991 PMID:16775239 PMID:18337304 PMID:19629567 PMID:19928689 PMID:20461396 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26467025 PMID:28492532 PMID:29687021 PMID:31211173 PMID:31827005 More...
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NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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Hspb8 |
heat shock protein family B (small) member 8 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A |
OMIM ClinVar |
PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 PMID:32376792 More...
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NCBI chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185
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Hspb1 |
heat shock protein family B (small) member 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B |
OMIM ClinVar |
PMID:9536098 PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16368711 PMID:17576681 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18832141 PMID:20178975 PMID:20660910 PMID:21149811 PMID:21971574 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22484489 PMID:22734906 PMID:23379525 PMID:23643870 PMID:23728742 PMID:23963299 PMID:24607769 PMID:24719117 PMID:25220807 PMID:25741868 PMID:25965061 PMID:25999205 PMID:26077850 PMID:26141737 PMID:26467025 PMID:26986878 PMID:26989944 PMID:27816334 PMID:27830184 PMID:28144995 PMID:28492532 PMID:28547731 PMID:28595321 PMID:28702508 PMID:29048431 PMID:29330367 PMID:29381233 PMID:29547183 PMID:30669930 PMID:30758704 PMID:31573509 PMID:32301006 PMID:32323160 PMID:32334137 PMID:32376792 PMID:33509756 More...
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NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Hspb3 |
heat shock protein family B (small) member 3 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C |
OMIM ClinVar |
PMID:20142617 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:45,295,285...45,295,999
Ensembl chr 2:45,295,053...45,296,145
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Fbxo38 |
F-box protein 38 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D |
OMIM ClinVar |
PMID:7723957 PMID:24207122 PMID:25741868 PMID:28166811 PMID:28492532 |
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NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961
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Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 |
ClinVar |
PMID:14981520 PMID:17387721 PMID:17486577 PMID:20806400 PMID:21957196 PMID:24604904 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 More...
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NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Gars1 |
glycyl-tRNA synthetase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 |
CTD ClinVar |
PMID:25741868 PMID:28166811 PMID:28492532 |
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NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Reep1 |
receptor accessory protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
ClinVar Annotator: match by term: HMN 5A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A |
ClinVar |
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19226263 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23553728 PMID:23963299 PMID:23989774 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25588603 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27144933 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 More...
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NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Gars1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: HMN 5A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A |
OMIM ClinVar |
PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17035524 PMID:17101916 PMID:17595294 PMID:19329989 PMID:20301420 PMID:24604904 PMID:24627108 PMID:25168514 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26503042 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28166811 PMID:28492532 PMID:28594869 PMID:29520015 PMID:29648643 PMID:29858556 PMID:31827005 PMID:31832804 PMID:31985473 PMID:32028661 PMID:32376792 More...
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NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Pnpo |
pyridoxamine 5'-phosphate oxidase |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A |
ClinVar |
PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 PMID:25762494 PMID:28492532 More...
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NCBI chr10:81,924,584...81,930,844
Ensembl chr10:81,924,569...81,930,871
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Reep1 |
receptor accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B |
OMIM ClinVar |
PMID:16826527 PMID:18321925 PMID:19034539 PMID:20718791 PMID:22703882 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34193129 More...
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NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C |
OMIM ClinVar |
PMID:1674639 PMID:5964029 PMID:11479539 PMID:12362029 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19226263 PMID:19396477 PMID:20301391 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23292937 PMID:23553728 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26072926 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 PMID:32397312 More...
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NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Ccdc138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Gcc2 |
GRIP and coiled-coil domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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Lims1 |
LIM zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Slc5a7 |
solute carrier family 5 member 7 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
OMIM ClinVar |
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 More...
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NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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Sult1c2a |
sulfotransferase family 1C member 2A |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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Sult1c3 |
sulfotransferase family 1C member 3 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
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Dctn1 |
dynactin subunit 1 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B |
OMIM ClinVar |
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16505168 PMID:17576681 PMID:17824900 PMID:18812314 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:24627108 PMID:25025039 PMID:25382069 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:28130640 PMID:28430856 PMID:28492532 PMID:32028661 PMID:32402491 PMID:33369814 More...
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NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:25635128 |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Gars1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:25635128 |
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NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mpz |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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Nefl |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Plekhg5 |
pleckstrin homology and RhoGEF domain containing G5 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:16728649 PMID:17564964 |
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NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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Scn11a |
sodium voltage-gated channel alpha subunit 11 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:24776970 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29213238 |
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NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:24533459 |
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:28492532 |
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NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:20037586 PMID:20460441 PMID:21336783 PMID:22702953 PMID:25900305 PMID:26110311 PMID:26467025 PMID:28492532 More...
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:17879966 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:22065612 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22675077 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27549087 PMID:27751652 PMID:28166811 PMID:28251916 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31041394 PMID:31191204 PMID:32579787 PMID:34008892 More...
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Wars1 |
tryptophanyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 |
OMIM ClinVar |
PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409 |
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NCBI chr 6:127,776,088...127,807,273
Ensembl chr 6:127,776,090...127,807,269
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Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure |
ClinVar OMIM RGD |
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15290238 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25280635 PMID:25326635 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26709713 PMID:27450922 PMID:27727376 PMID:28065684 PMID:28251916 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29761130 PMID:30373780 PMID:30598237 PMID:30863264 PMID:31019026 PMID:31178897 PMID:32376792 PMID:32488064 PMID:32573669 PMID:33258288 PMID:33369814 PMID:34190362 PMID:11528396 More...
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RGD:737748 |
NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
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Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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Arid3c |
AT-rich interaction domain 3C |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,890,042...56,895,888
Ensembl chr 5:56,890,042...56,895,888
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Atosb |
atos homolog B |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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Car9 |
carbonic anhydrase 9 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Ccdc107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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Ccin |
calicin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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Ccl19 |
C-C motif chemokine ligand 19 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl21 |
C-C motif chemokine ligand 21 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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Ccl27 |
C-C motif chemokine ligand 27 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Cd72 |
Cd72 molecule |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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Clta |
clathrin, light chain A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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Cntfr |
ciliary neurotrophic factor receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,823,448...56,861,075
Ensembl chr 5:56,823,965...56,841,392
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G |
Creb3 |
cAMP responsive element binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390
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G |
Dctn3 |
dynactin subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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G |
Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,176,840...57,185,492
Ensembl chr 5:57,176,845...57,185,490
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G |
Enho |
energy homeostasis associated |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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G |
Fam166b |
family with sequence similarity 166, member B |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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G |
Fam221b |
family with sequence similarity 221, member B |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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G |
Fancg |
FA complementation group G |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 |
ClinVar |
PMID:28492532 |
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| |