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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;   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: MIM:105400
 xref: 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 chr31:28,472,106...28,481,759 JBrowse link
G BCL2L1 BCL2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
G BSG basigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061 		JBrowse link
G CALB2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:77,178,158...77,205,663
Ensembl chr 5:77,177,951...77,205,671 		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 chr31:31,416,441...31,423,797
Ensembl chr31:31,416,333...31,423,739 		JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183 		JBrowse link
G CD7 CD7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:45,826...48,864
Ensembl chr 9:45,634...48,749 		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 chr31:27,296,841...27,305,941
Ensembl chr31:27,286,376...27,305,608 		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 chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784 		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 chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446 		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 chr31:30,003,448...30,102,939
Ensembl chr31:30,091,335...30,100,842 		JBrowse link
G CLU clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563 		JBrowse link
G CNTF ciliary neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr18:37,758,148...37,765,698 JBrowse link
G CREBBP CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		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 chr31:29,109,017...29,144,432 JBrowse link
G CTSD cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr18:46,010,440...46,019,457
Ensembl chr18:46,010,440...46,019,457 		JBrowse link
G DBX1 developing brain homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr21:42,207,205...42,214,954
Ensembl chr21:42,208,346...42,212,415 		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		 ClinVar
OMIM		 PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147 		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 chr31:28,113,339...28,117,705 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 chr31:28,192,338...28,209,512 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 chr31:31,431,150...31,536,424
Ensembl chr31:31,430,887...31,536,379 		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 chr31:32,564,970...32,655,232
Ensembl chr31:32,511,502...32,652,572 		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 chr31:27,457,591...27,496,423
Ensembl chr31:27,460,093...27,460,752 		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 chr31:27,176,246...27,256,810
Ensembl chr31:27,177,136...27,256,293 		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 chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751 		JBrowse link
G FGF6 fibroblast growth factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr27:40,440,298...40,456,933
Ensembl chr27:40,440,377...40,455,257 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822 		JBrowse link
G FMO1 flavin containing dimethylaniline monoxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr 7:27,599,230...27,623,081
Ensembl chr 7:27,599,267...27,618,237 		JBrowse link
G FOLH1B folate hydrolase 1B treatment ISO RGD PMID:12876198 RGD:737756 NCBI chr21:10,401,129...10,466,162
Ensembl chr21:10,203,492...10,466,161 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467 		JBrowse link
G FUS FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:28492532 NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581 		JBrowse link
G GBX2 gastrulation brain homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr25:47,005,509...47,008,367
Ensembl chr25:47,005,504...47,008,512 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:122,141,633...122,146,724
Ensembl chr  X:122,141,566...122,146,824 		JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:18,569,868...18,579,463
Ensembl chr 9:18,569,892...18,579,461 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:94,729,828...95,006,244
Ensembl chr  X:94,730,943...95,004,279 		JBrowse link
G GSX2 GS homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr13:46,640,172...46,642,405
Ensembl chr13:46,640,172...46,641,546 		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 chr31:31,934,796...32,159,866
Ensembl chr31:31,937,087...32,150,861 		JBrowse link
G HSF1 heat shock transcription factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252 		JBrowse link
G HUNK hormonally up-regulated Neu-associated kinase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr31:26,723,823...26,830,420
Ensembl chr31:26,748,351...26,828,778 		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 chr31:28,854,765...28,876,399 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 chr31:27,860,094...27,891,361 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 chr31:28,909,930...28,948,742 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 chr31:28,791,541...28,815,163
Ensembl chr31:27,892,394...27,915,637 		JBrowse link
G INA internexin neuronal intermediate filament protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr28:15,670,919...15,685,080
Ensembl chr28:15,670,999...15,683,380 		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 chr31:29,144,754...29,360,134 JBrowse link
G JAK3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805 		JBrowse link
G JUND JunD proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:44,737,021...44,738,932
Ensembl chr20:44,736,832...44,763,020 		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 chr31:29,858,428...29,868,315 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 chr31:29,777,154...29,777,839
Ensembl chr31:29,581,658...29,777,525 		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 chr31:32,752,585...33,010,999
Ensembl chr31:32,755,899...32,934,478 		JBrowse link
G KIF3C kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:20,090,374...20,128,703
Ensembl chr17:20,091,759...20,128,562 		JBrowse link
G KIF5A kinesin family member 5A ISO mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767 		JBrowse link
G KIF5C kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr19:50,535,622...50,684,485
Ensembl chr19:50,535,456...50,668,738 		JBrowse link
G LAT linker for activation of T cells ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:18,458,985...18,462,463
Ensembl chr 6:18,459,061...18,462,694 		JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355 		JBrowse link
G LOC100683370 thymosin beta-4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:21,127,694...21,128,346 JBrowse link
G LOC100686073 metallothionein-1 ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr 2:59,603,021...59,604,173
Ensembl chr 2:59,603,014...59,604,132 		JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr31:29,032,399...29,063,706 JBrowse link
G LOC607874 cystatin-C-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr23:49,562...53,618 JBrowse link
G LOC610164 carbonyl reductase [NADPH] 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr31:31,316,573...31,321,413 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 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797 		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 chr31:27,025,657...27,039,001
Ensembl chr31:27,025,709...27,039,028 		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 chr31:31,547,783...31,589,185
Ensembl chr31:31,547,894...31,586,541 		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 chr31:27,058,469...27,085,704
Ensembl chr31:27,058,366...27,087,573 		JBrowse link
G NEFH neurofilament heavy chain ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28749476 PMID:29411640 PMID:29650794 More... NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125 		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 chr31:27,718,925...27,721,301
Ensembl chr31:27,719,026...27,719,862 		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 chr31:27,674,112...27,677,521
Ensembl chr31:27,674,107...27,676,822 		JBrowse link
G OTOG otogelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475 		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 chr31:27,405,547...27,439,839
Ensembl chr31:27,406,492...27,439,844 		JBrowse link
G PDGFA platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396 		JBrowse link
G PENK proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr29:7,757,543...7,763,137
Ensembl chr29:7,757,857...7,762,398 		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 chr31:32,222,284...32,230,633
Ensembl chr31:32,220,152...32,230,656 		JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G PRPH peripherin susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar
OMIM		 PMID:25741868 NCBI chr27:5,314,815...5,320,270
Ensembl chr27:5,314,807...5,320,089 		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 chr31:29,908,046...30,002,412
Ensembl chr31:29,909,388...30,002,418 		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 chr31:32,150,768...32,188,604
Ensembl chr31:32,150,882...32,188,436 		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 chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839 		JBrowse link
G RXRA retinoid X receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119 		JBrowse link
G 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 chr31:26,546,801...26,583,040
Ensembl chr31:26,547,108...26,636,811 		JBrowse link
G SELPLG selectin P ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr26:18,250,260...18,259,996
Ensembl chr26:18,250,295...18,259,765 		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 chr31:31,283,623...31,309,527
Ensembl chr31:31,150,596...31,309,687 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276 		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 chr31:31,879,483...31,929,531
Ensembl chr31:31,879,360...31,930,359 		JBrowse link
G SIX2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:47,399,152...47,403,503
Ensembl chr10:47,400,034...47,403,509 		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 chr31:28,610,332...28,635,233
Ensembl chr31:28,610,332...28,635,233 		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 chr31:29,781,693...29,818,886 JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr24:36,498,343...36,503,623
Ensembl chr24:36,498,062...36,503,628 		JBrowse link
G SNCG synuclein gamma ISO OMIM:105400 MouseDO NCBI chr 4:34,604,867...34,608,851
Ensembl chr 4:34,605,091...34,608,842 		JBrowse link
G SOD1 superoxide dismutase 1 ISO 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		 OMIM
ClinVar		 PMID:1248932 PMID:1259395 PMID:1463506 PMID:2517465 PMID:7496169 More... NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SOD2 superoxide dismutase 2 ISO OMIM:105400 MouseDO NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		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 chr31:28,165,758...28,198,692 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 chr31:27,308,169...27,399,226
Ensembl chr31:27,308,169...27,399,197 		JBrowse link
G TARDBP TAR DNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More... NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593 		JBrowse link
G TIAM1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr31:26,058,858...26,440,059
Ensembl chr31:25,932,697...26,202,756 		JBrowse link
G TLE3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr30:33,803,719...33,895,204
Ensembl chr30:33,803,734...33,896,525 		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 chr31:28,061,730...28,117,485 JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		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 chr31:32,239,895...32,348,182
Ensembl chr31:32,213,438...32,347,195 		JBrowse link
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 More... NCBI chr  X:47,860,923...47,864,282 JBrowse link
G UNC13A unc-13 homolog A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:25741868 NCBI chr20:45,179,275...45,237,544
Ensembl chr20:45,188,750...45,238,115 		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 chr31:27,087,196...27,158,144
Ensembl chr31:27,087,570...27,158,164 		JBrowse link
G VAPB VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar NCBI chr24:43,182,158...43,238,019
Ensembl chr24:43,182,196...43,231,336 		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 chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO OMIM:105400 MouseDO NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G VIM vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466 		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 chr31:32,344,908...32,427,741
Ensembl chr31:32,382,686...32,427,650 		JBrowse link
G VPS54 VPS54 subunit of GARP complex ISO OMIM:105400 MouseDO NCBI chr10:63,598,373...63,676,753
Ensembl chr10:63,599,229...63,676,747 		JBrowse link
G WNT7A Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:4,072,010...4,139,521
Ensembl chr20:4,073,929...4,139,436 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:95,300,234...95,356,103
Ensembl chr  X:95,331,827...95,351,582 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15726
    disease of anatomical entity 15371
      nervous system disease 13482
        central nervous system disease 12044
          spinal cord disease 1932
            amyotrophic lateral sclerosis 385
              amyotrophic lateral sclerosis type 1 111
Path 2
Term Annotations click to browse term
  disease 15726
    disease of anatomical entity 15371
      nervous system disease 13482
        peripheral nervous system disease 4195
          neuropathy 4000
            neuromuscular disease 3159
              motor neuron disease 532
                MOTOR NEURON ATROPHY 385
                  amyotrophic lateral sclerosis 385
                    amyotrophic lateral sclerosis type 1 111
paths to the root