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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:amyotrophic lateral sclerosis type 1
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Accession:DOID:0060193 term browser 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
 narrow_synonym: amyotrophic lateral sclerosis 1, autosomal dominant;   amyotrophic lateral sclerosis 1, autosomal recessive;   amyotrophic lateral sclerosis 1, familial
 broad_synonym: NEFH-related condition;   PRPH-related condition
 related_synonym: amyotrophic lateral sclerosis, autosomal dominant;   amyotrophic lateral sclerosis, dominant;   amyotrophic lateral sclerosis, familial;   amyotrophic lateral sclerosis, sporadic
 xref: MESH:C531617;   MIM:105400;   MONDO:0007103;   NCI:C168749


show annotations for term's descendants           Sort by:
amyotrophic lateral sclerosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr11:44,651,171...44,657,483
Ensembl chr11:44,651,173...44,657,520 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:161,745,540...161,764,907
Ensembl chr 1:161,745,540...161,764,907 		JBrowse link
G Bsg basigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:10,643,789...10,651,005 		JBrowse link
G Calb2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:55,023,849...55,050,858
Ensembl chr19:55,023,838...55,057,952 		JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:10,746,333...10,882,275 		JBrowse link
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,346,405...46,348,815
Ensembl chr11:46,378,411...46,381,104
Ensembl chr11:46,378,411...46,381,104 		JBrowse link
G Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,478,295...46,486,555
Ensembl chr11:46,478,274...46,486,558 		JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540 		JBrowse link
G Cd7 Cd7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:106,802,373...106,805,269
Ensembl chr10:106,802,383...106,805,294 		JBrowse link
G 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 chr11:43,667,996...43,678,049
Ensembl chr11:43,668,014...43,677,382 		JBrowse link
G 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 chr11:46,670,560...46,690,739
Ensembl chr11:46,670,630...46,690,733 		JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,701,940...46,799,049
Ensembl chr11:46,701,940...46,799,096 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:45,223,715...45,266,261
Ensembl chr11:45,223,669...45,267,344 		JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860 		JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr 1:219,312,512...219,314,535
Ensembl chr 1:219,312,512...219,314,488 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,419,099...44,464,366
Ensembl chr11:44,419,103...44,463,793 		JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:156,790,079...156,793,937 		JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:206,956,944...206,968,821 		JBrowse link
G Dbx1 developing brain homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:108,484,846...108,490,381
Ensembl chr 1:108,484,863...108,490,381 		JBrowse link
G Dctn1 dynactin subunit 1 susceptibility 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
CTD
OMIM		 PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chr 4:117,228,722...117,261,528
Ensembl chr 4:117,219,349...117,261,528 		JBrowse link
G 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 chr11:44,341,528...44,344,348
Ensembl chr11:44,338,646...44,344,482 		JBrowse link
G 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 chr11:44,405,794...44,419,099
Ensembl chr11:44,405,804...44,418,791 		JBrowse link
G 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 chr11:46,494,058...46,595,601
Ensembl chr11:46,494,058...46,595,601 		JBrowse link
G 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 chr11:47,360,824...47,479,033
Ensembl chr11:47,360,850...47,479,033 		JBrowse link
G 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 chr11:43,793,924...43,811,388
Ensembl chr11:43,793,578...43,811,682 		JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,575,613...43,649,677
Ensembl chr11:43,576,332...43,649,834 		JBrowse link
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:26740942 More... NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:161,541,089...161,549,624
Ensembl chr 4:161,541,089...161,553,521 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr20:46,183,225...46,306,686
Ensembl chr20:46,183,225...46,306,477 		JBrowse link
G Fmo1 flavin containing dimethylaniline monoxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr13:77,715,405...77,747,666
Ensembl chr13:77,715,402...77,747,874 		JBrowse link
G Folh1 folate hydrolase 1 treatment ISO RGD PMID:12876198 RGD:737756 NCBI chr 1:149,828,286...149,914,313
Ensembl chr 1:149,840,760...149,914,035 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:110,852,190...110,855,598 		JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:28492532 NCBI chr 1:192,007,011...192,020,887
Ensembl chr 1:192,007,006...192,020,884 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:27,096,731...27,152,563
Ensembl chr10:27,096,740...27,152,442 		JBrowse link
G 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 chr11:44,351,841...44,377,086
Ensembl chr11:44,351,851...44,377,086 		JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:97,957,304...97,959,883
Ensembl chr 9:97,957,304...97,959,883 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:157,238,892...157,245,560 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:88,352,987...88,361,661
Ensembl chr10:88,352,986...88,361,685 		JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:125,103,975...125,369,690
Ensembl chr  X:125,103,782...125,369,679 		JBrowse link
G Gsx2 GS homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr14:33,477,968...33,480,320
Ensembl chr14:33,477,968...33,480,320 		JBrowse link
G Hlcs holocarboxylase synthetase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,925,491...47,123,111
Ensembl chr11:46,925,491...47,105,082 		JBrowse link
G Hsf1 heat shock transcription factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:110,076,710...110,103,665 		JBrowse link
G 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 chr11:43,127,244...43,244,502
Ensembl chr11:43,127,244...43,244,502 		JBrowse link
G 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 chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205 		JBrowse link
G 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 chr11:44,099,574...44,131,941
Ensembl chr11:44,099,753...44,131,937 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,265,703...44,283,975
Ensembl chr11:44,265,703...44,283,975 		JBrowse link
G 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 chr11:44,132,471...44,154,062
Ensembl chr11:44,132,189...44,154,053 		JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:255,838,129...255,849,680
Ensembl chr 1:255,838,129...255,849,680 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,464,515...44,646,598
Ensembl chr11:44,513,186...44,646,598 		JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,420,415...18,433,222 		JBrowse link
G Jund JunD proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:18,768,093...18,769,771
Ensembl chr16:18,764,985...18,782,148 		JBrowse link
G 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 chr11:45,066,875...45,080,024
Ensembl chr11:45,064,162...45,081,247 		JBrowse link
G 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 chr11:45,003,468...45,015,942
Ensembl chr11:45,014,406...45,016,168 		JBrowse link
G 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 chr11:47,531,312...47,778,348
Ensembl chr11:47,531,312...47,778,348 		JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:32,086,879...32,125,812
Ensembl chr 6:32,086,124...32,126,066 		JBrowse link
G Kif5a kinesin family member 5A ISO mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:64,934,740...64,978,272 		JBrowse link
G Kif5c kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 3:54,441,266...54,591,630
Ensembl chr 3:54,441,310...54,594,813 		JBrowse link
G Lat linker for activation of T cells ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:190,367,111...190,372,515
Ensembl chr 1:190,367,109...190,372,153 		JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:28,546,146...28,570,675 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:164,319,017...164,332,686
Ensembl chr 5:164,308,991...164,332,705 		JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,454,129...43,467,157
Ensembl chr11:43,454,161...43,476,264 		JBrowse link
G 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 chr11:46,621,575...46,664,315
Ensembl chr11:46,621,548...46,664,309 		JBrowse link
G 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 chr11:43,477,382...43,489,118
Ensembl chr11:43,478,001...43,489,118 		JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,778,667...44,834,420
Ensembl chr11:44,781,554...44,834,962 		JBrowse link
G Mt1a metallothionein 1A ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr19:10,831,959...10,832,975
Ensembl chr17:79,695,809...79,696,200
Ensembl chr  X:79,695,809...79,696,200
Ensembl chr19:79,695,809...79,696,200 		JBrowse link
G 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
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 		CTD
ClinVar
OMIM		 PMID:7849698 PMID:25741868 PMID:28430856 PMID:28492532 PMID:28749476 More... NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417 		JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,000,450...44,002,592
Ensembl chr11:44,000,281...44,002,592 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,961,585...43,964,961
Ensembl chr11:43,958,940...43,968,634 		JBrowse link
G Otog otogelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:105,882,747...105,951,825
Ensembl chr 1:105,882,747...105,951,824 		JBrowse link
G 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 chr11:43,758,116...43,787,624
Ensembl chr11:43,758,116...43,787,542 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:20,759,366...20,780,337
Ensembl chr12:20,754,208...20,780,322 		JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:21,981,381...21,987,074
Ensembl chr 5:21,981,382...21,986,705 		JBrowse link
G 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 chr11:47,152,601...47,158,766
Ensembl chr11:47,148,465...47,160,082 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Prph peripherin susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: PRPH-related condition 		OMIM
CTD
ClinVar		 PMID:15446584 PMID:25741868 PMID:28492532 PMID:32638105 NCBI chr 7:132,096,888...132,101,070
Ensembl chr 7:132,097,285...132,101,068 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:45,108,123...45,188,065
Ensembl chr11:45,108,124...45,118,236 		JBrowse link
G Ripply3 ripply transcriptional repressor 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:47,118,147...47,126,244
Ensembl chr11:47,118,147...47,131,954 		JBrowse link
G 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 chr11:45,325,778...45,560,300
Ensembl chr11:45,329,044...45,564,925 		JBrowse link
G Rxra retinoid X receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:31,388,223...31,474,417 		JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:9455977 PMID:9506558 PMID:16435343 PMID:17237124 PMID:19635794 More... NCBI chr11:42,951,254...43,007,293
Ensembl chr11:42,951,254...43,007,293 		JBrowse link
G Selplg selectin P ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:48,457,102...48,470,444
Ensembl chr12:48,456,932...48,473,154 		JBrowse link
G Serpina3n serpin family A member 3N ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:129,088,392...129,095,950
Ensembl chr 6:129,088,398...129,097,415 		JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,315,340...46,344,024
Ensembl chr11:46,323,895...46,344,024 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:177,135,649...177,147,257
Ensembl chr 2:177,135,659...177,147,914 		JBrowse link
G 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 chr11:46,883,859...46,923,305
Ensembl chr11:46,883,859...46,923,305 		JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:14,727,756...14,734,219
Ensembl chr 6:14,727,859...14,731,941 		JBrowse link
G 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 chr11:44,799,787...44,802,233
Ensembl chr11:44,790,297...44,818,157 		JBrowse link
G 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 chr11:45,019,269...45,028,926
Ensembl chr11:45,019,239...45,028,921 		JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:176,667,476...176,671,965 JBrowse link
G Sncg synuclein, gamma ISS OMIM:105400 MouseDO NCBI chr16:9,706,765...9,712,072
Ensembl chr16:9,706,753...9,712,076 		JBrowse link
G Sod1 superoxide dismutase 1 ISO
ISS 		DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.I113T (human)
DNA:missense mutation:cds:p.D90A (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
OMIM:105400
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
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 | ClinVar Annotator: match by term: NEFH-related condition 		OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:1248932 PMID:1259395 PMID:1463506 PMID:2020294 PMID:2517465 More... RGD:737689, RGD:8655618, RGD:8655862, RGD:8655873 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:105400 MouseDO NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G 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 chr11:44,336,818...44,409,127
Ensembl chr11:44,377,976...44,409,127 		JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,678,709...43,755,526
Ensembl chr11:43,678,709...43,755,526 		JBrowse link
G 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 More... NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:164,334,924...164,345,204 		JBrowse link
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:17237124 PMID:23512985 PMID:28492532 NCBI chr11:42,517,527...42,866,280
Ensembl chr11:42,517,528...42,646,075 		JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:70,753,182...70,799,080
Ensembl chr 8:70,753,383...70,799,074 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,290,805...44,323,650
Ensembl chr11:44,290,807...44,323,607 		JBrowse link
G Tmsb4x thymosin beta 4, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:30,761,611...30,763,612
Ensembl chr  X:30,761,612...30,763,613 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:47,158,766...47,258,612
Ensembl chr11:47,158,792...47,258,418 		JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:19377476 PMID:22560112 PMID:23138764 PMID:25741868 PMID:26467025 More... NCBI chr  X:21,228,809...21,232,228
Ensembl chr  X:21,229,197...21,232,268 		JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:25741868 NCBI chr16:18,367,891...18,415,808
Ensembl chr16:18,367,919...18,415,899 		JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,490,633...43,551,398
Ensembl chr11:43,490,633...43,551,767 		JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 3:182,954,247...182,997,018
Ensembl chr 3:182,954,240...183,028,619 		JBrowse link
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:26740942 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387 		JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:105400 MouseDO NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:81,568,272...81,585,746 		JBrowse link
G 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 chr11:47,283,764...47,311,105
Ensembl chr11:47,262,071...47,311,045 		JBrowse link
G Vps54 VPS54 subunit of GARP complex ISS OMIM:105400 MouseDO NCBI chr14:99,580,120...99,657,178
Ensembl chr14:99,580,148...99,657,164 		JBrowse link
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:125,420,276...125,466,149
Ensembl chr 4:125,420,276...125,466,149 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:125,737,971...125,803,978 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18458
      nervous system disease 14370
        central nervous system disease 12648
          spinal cord disease 1957
            amyotrophic lateral sclerosis 398
              amyotrophic lateral sclerosis type 1 114
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18458
      nervous system disease 14370
        peripheral nervous system disease 4419
          neuropathy 4203
            neuromuscular disease 3239
              motor neuron disease 550
                MOTOR NEURON ATROPHY 398
                  amyotrophic lateral sclerosis 398
                    amyotrophic lateral sclerosis type 1 114
paths to the root