RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: amyotrophic lateral sclerosis type 1
Accession: DOID:0060193
browse the term
Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. (DO)
Synonyms: exact_synonym: ALS1; FALS; amyotrophic lateral sclerosis 1; amyotrophic lateral sclerosis 1, familial; amyotrophic lateral sclerosis, familial
narrow_synonym: amyotrophic lateral sclerosis 1, autosomal dominant; amyotrophic lateral sclerosis 1, autosomal recessive; amyotrophic lateral sclerosis, autosomal dominant; amyotrophic lateral sclerosis, dominant; amyotrophic lateral sclerosis, sporadic
related_synonym: NEFH-RELATED CONDITION
primary_id: MESH:C531617
alt_id: OMIM:105400
xref: NCI:C168749
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Atp5po
ATP synthase peripheral stalk subunit OSCP
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
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Bcl2l1
Bcl2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bsg
basigin (Ok blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
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Calb2
calbindin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438
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Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Cbr1
carbonyl reductase 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393
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Cbr3
carbonyl reductase 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875
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Cd68
Cd68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cd7
Cd7 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr10:106,304,046...106,306,963
Ensembl chr10:106,304,056...106,306,967
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Cfap298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
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Chaf1b
chromatin assembly factor 1 subunit B
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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Cldn14
claudin 14
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
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Clic6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
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Clu
clusterin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Cntf
ciliary neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11951178
NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Cryzl1
crystallin zeta like 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867
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Cst3
cystatin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Ctsd
cathepsin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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Dbx1
developing brain homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 1:99,348,638...99,354,173
Ensembl chr 1:99,349,608...99,354,038
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Dctn1
dynactin subunit 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 type 1 ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
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:19136952 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:23881933 PMID:23985322 PMID:24343258 PMID:24484619 PMID:24627108 PMID:24881494 PMID:25025039 PMID:25109764 PMID:25299611 PMID:25382069 PMID:25558820 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:28518168 PMID:28625595 PMID:28709720 PMID:28717666 PMID:28792508 PMID:29089398 PMID:29339765 PMID:29525180 PMID:29738522 PMID:30373780 PMID:31788332 PMID:31996268 PMID:32023010 PMID:32028661 PMID:32325477 PMID:32397312 PMID:32402491 PMID:32461654 PMID:32579787 PMID:32712562 PMID:32717578 PMID:32843152 PMID:33369814 PMID:33408239 PMID:33443672 PMID:33601107 PMID:33973882 PMID:35047667 PMID:35586532 PMID:35873773 PMID:36879021 PMID:37668947 More...
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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Dnajc28
DnaJ heat shock protein family (Hsp40) member C28
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441
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Donson
DNA replication fork stabilization factor DONSON
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889
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Dop1b
DOP1 leucine zipper like protein B
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931
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Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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Epcip
exosomal polycystin 1 interacting protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439
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Eva1c
eva-1 homolog C
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596
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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:26740942 PMID:28492532 More...
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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Fgf6
fibroblast growth factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
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Fig4
FIG4 phosphoinositide 5-phosphatase
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
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Fmo1
flavin containing dimethylaniline monoxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17127561
NCBI chr13:75,182,184...75,214,439
Ensembl chr13:75,182,176...75,214,647
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Folh1
folate hydrolase 1
treatment
ISO
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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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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Fus
Fus RNA binding protein
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
PMID:28492532
NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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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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Gart
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
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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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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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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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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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Gsx2
GS homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr14:33,123,799...33,126,151
Ensembl chr14:33,124,381...33,126,105
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Hlcs
holocarboxylase synthetase
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222
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Hsf1
heat shock transcription factor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24256636
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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Hunk
hormonally upregulated Neu-associated kinase
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:29,641,122...29,758,392
Ensembl chr11:29,640,775...29,757,526
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Ifnar1
interferon alpha and beta receptor subunit 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Ifnar2
interferon alpha and beta receptor subunit 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
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Ifngr2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
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Il10rb
interleukin 10 receptor subunit beta
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
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Ina
internexin neuronal intermediate filament protein, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
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Itsn1
intersectin 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
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Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Jund
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799
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Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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Kcne2
potassium voltage-gated channel subfamily E regulatory subunit 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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Kcnj6
potassium inwardly-rectifying channel, subfamily J, member 6
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758
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Kif3c
kinesin family member 3C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130
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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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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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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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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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Masp2
MBL associated serine protease 2
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
PMID:24033266 PMID:28492532
NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
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Mis18a
MIS18 kinetochore protein A
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062
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Morc3
MORC family CW-type zinc finger 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,151,906...33,194,650
Ensembl chr11:33,152,025...33,194,646
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Mrap
melanocortin 2 receptor accessory protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
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Mrps6
mitochondrial ribosomal protein S6
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
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Mt1
metallothionein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24163136
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
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Nefh
neurofilament heavy chain
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition
CTD OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28749476 PMID:29411640 PMID:29650794 PMID:35047667 More...
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Olig1
oligodendrocyte transcription factor 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521
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Olig2
oligodendrocyte transcription factor 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
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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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Paxbp1
PAX3 and PAX7 binding protein 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
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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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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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Pigp
phosphatidylinositol glycan anchor biosynthesis, class P
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321
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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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Prph
peripherin
susceptibility
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:25741868
NCBI chr 7:130,218,149...130,222,136
Ensembl chr 7:130,218,357...130,222,136
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Rcan1
regulator of calcineurin 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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Ripply3
ripply transcriptional repressor 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,648,471...33,656,587
Ensembl chr11:33,648,486...33,656,584
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Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Rxra
retinoid X receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
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Scaf4
SR-related CTD-associated factor 4
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:25741868 PMID:28492532
NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153
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Selplg
selectin P ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr12:42,796,690...42,809,908
Ensembl chr12:42,796,580...42,812,585
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Serpina3n
serine (or cysteine) peptidase inhibitor, clade A, member 3N
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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Setd4
SET domain containing 4
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Shc1
SHC adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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Sim2
SIM bHLH transcription factor 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
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Six2
SIX homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193
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Slc5a3
solute carrier family 5 member 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
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Smim11
small integral membrane protein 11
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
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Snai1
snail family transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
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Sncg
synuclein, gamma
ISS
OMIM:105400
MouseDO
NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
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Sod1
superoxide dismutase 1
ISO ISS
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 OMIM:105400 CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:multiple (human) DNA:missense mutation:cds:p.I113T (human) DNA:missense mutation:cds:p.D90A (human)
OMIM ClinVar MouseDO 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:7795609 PMID:7836951 PMID:7870076 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:9131652 PMID:9228005 PMID:9365366 PMID:9409355 PMID:9455977 PMID:9455983 PMID:9462467 PMID:9506558 PMID:9536098 PMID:9556377 PMID:9706719 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:11408340 PMID:11464950 PMID:11467054 PMID:11602336 PMID:11675877 PMID:11676987 PMID:11796754 PMID:11854285 PMID:11951178 PMID:11997070 PMID:12039658 PMID:12127151 PMID:12165567 PMID:12210393 PMID:12215228 PMID:12358759 PMID:12402272 PMID:12424972 PMID:12442272 PMID:12482932 PMID:12729761 PMID:12732844 PMID:12783432 PMID:12792143 PMID:12963370 PMID:13129803 PMID:13129804 PMID:13804989 PMID:14506936 PMID:14517684 PMID:14623191 PMID:14658402 PMID:14755739 PMID:14759637 PMID:14875225 PMID:14970233 PMID:15050437 PMID:15056757 PMID:15069187 PMID:15096637 PMID:15208263 PMID:15235802 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:16319027 PMID:16423367 PMID:16435343 PMID:16476815 PMID:16674979 PMID:16793335 PMID:16945901 PMID:16952453 PMID:16963403 PMID:17146286 PMID:17237124 PMID:17255946 PMID:17257622 PMID:17299743 PMID:17319283 PMID:17333220 PMID:17394531 PMID:17420412 PMID:17453632 PMID:17483589 PMID:17486090 PMID:17513298 PMID:17543992 PMID:17576681 PMID:17888947 PMID:18055113 PMID:18273717 PMID:18301754 PMID:18319614 PMID:18428003 PMID:18504130 PMID:18608106 PMID:18666828 PMID:18669821 PMID:18703498 PMID:18852346 PMID:18951903 PMID:19000626 PMID:19063897 PMID:19074999 PMID:19091752 PMID:19165329 PMID:19176896 PMID:19196430 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:20385392 PMID:20399791 PMID:20404329 PMID:20404910 PMID:20460594 PMID:20472325 PMID:20485746 PMID:20515040 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:22049684 PMID:22094223 PMID:22244934 PMID:22264771 PMID:22292843 PMID:22332887 PMID:22475618 PMID:22499346 PMID:22595972 PMID:22632444 PMID:22632445 PMID:22647583 PMID:22670878 PMID:22722621 PMID:22941224 PMID:22985433 PMID:23062701 PMID:23100398 PMID:23118898 PMID:23182243 PMID:23264618 PMID:23280792 PMID:23286750 PMID:23290792 PMID:23291526 PMID:23447461 PMID:23512985 PMID:23541756 PMID:23612299 PMID:23726301 PMID:23744890 PMID:23773010 PMID:23792044 PMID:23837654 PMID:23853506 PMID:23869403 PMID:23872456 PMID:23873540 PMID:23898858 PMID:23949607 PMID:23962495 PMID:24094577 PMID:24134191 PMID:24163136 PMID:24256636 PMID:24283690 PMID:24312616 PMID:24325798 PMID:24369116 PMID:24439480 PMID:24472010 PMID:24769475 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:25729540 PMID:25741868 PMID:25792239 PMID:25806427 PMID:26069299 PMID:26084641 PMID:26362407 PMID:26467025 PMID:26551617 PMID:26601740 PMID:26622980 PMID:26694608 PMID:26733601 PMID:26742954 PMID:26791423 PMID:26843957 PMID:27090969 PMID:27154192 PMID:27257061 PMID:27261500 PMID:27348463 PMID:27470954 PMID:27604643 PMID:27884173 PMID:27974499 PMID:27978769 PMID:28035186 PMID:28089114 PMID:28105640 PMID:28222900 PMID:28291249 PMID:28430856 PMID:28444446 PMID:28492532 PMID:28620717 PMID:28709720 PMID:29149916 PMID:29411640 PMID:29540513 PMID:29564924 PMID:29650794 PMID:29861044 PMID:29895397 PMID:29982983 PMID:30029678 PMID:30626575 PMID:30637102 PMID:30887850 PMID:31086828 PMID:31134679 PMID:31170830 PMID:31781168 PMID:31788332 PMID:32166880 PMID:32174179 PMID:32397312 PMID:32579787 PMID:32619288 PMID:32672072 PMID:32729724 PMID:32729725 PMID:32789025 PMID:32948071 PMID:32951934 PMID:32987860 PMID:33381076 PMID:33408239 PMID:33479441 PMID:33618928 PMID:33785574 PMID:34404558 PMID:34518333 PMID:34668453 PMID:34721532 PMID:34839512 PMID:35076740 PMID:35154965 PMID:35260199 PMID:8446170 PMID:20184521 PMID:8815157 PMID:10809943 More...
RGD:737689 , RGD:8655618 , RGD:8655862 , RGD:8655873
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISS
OMIM:105400
MouseDO
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Son
SON DNA and RNA binding protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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Synj1
synaptojanin 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220
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Tardbp
TAR DNA binding protein
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...
NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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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:17237124 PMID:23512985 PMID:28492532
NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901
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Tle3
TLE family member 3, transcriptional corepressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493
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Tmem50b
transmembrane protein 50B
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661
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Tmsb4x
thymosin beta 4, X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr X:27,144,666...27,146,667
Ensembl chr X:27,128,610...27,146,667
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ttc3
tetratricopeptide repeat domain 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975
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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...
NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505
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Unc13a
unc-13 homolog A
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:25741868
NCBI chr16:18,333,910...18,381,813
Ensembl chr16:18,336,229...18,381,872
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Urb1
URB1 ribosome biogenesis homolog
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
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Vapb
VAMP associated protein B and C
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
NCBI chr 3:162,535,974...162,578,747
Ensembl chr 3:162,535,905...162,573,763
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Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Vegfa
vascular endothelial growth factor A
ISS
OMIM:105400
MouseDO
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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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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Vps26c
VPS26 endosomal protein sorting factor C
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,813,467...33,841,883
Ensembl chr11:33,792,389...33,841,447
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Vps54
VPS54 subunit of GARP complex
ISS
OMIM:105400
MouseDO
NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857
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Wnt7a
Wnt family member 7A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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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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