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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
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Accession:DOID:332 term browser browse the term
Definition:A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. (DO)
Synonyms:exact_synonym: ALS;   AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL;   Charcot disease;   Gehrig Disease;   Gehrig's Disease;   Gehrigs Disease;   Lou Gehrig disease;   Lou Gehrig's disease;   Lou-Gehrigs disease;   bulbar motor neuron disease;   motor neuron disease, amyotrophic lateral sclerosis
 narrow_synonym: AMYOTROPHIC LATERAL SCLEROSIS/FRONTOTEMPORAL DEMENTIA;   amyotrophic lateral sclerosis with dementia;   familial amyotrophic lateral sclerosis;   sporadic amyotrophic lateral sclerosis
 related_synonym: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1, SUSCEPTIBILITY TO;   Amyotrophic Lateral Sclerosis In Males, Susceptibility To;   Amyotrophic Lateral Sclerosis, Susceptibility To
 primary_id: MESH:D000690
 xref: EFO:0000253;   EFO:0001356;   EFO:0001357;   GARD:5786;   ICD10CM:G12.21;   ICD9CM:335.20;   MONDO:0004976;   NCI:C34373;   OMIM:PS105400;   ORDO:803
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
amyotrophic lateral sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572 		JBrowse link
G AC106820.5 novel transcript IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr16:2,456,066...2,459,978
Ensembl chr16:2,456,252...2,459,979 		JBrowse link
G ACTL6B actin like 6B EXP CTD Direct Evidence: marker/mechanism CTD PMID:28973294 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 IEP
ISS		 mRNA:decreased expression:motor neuron: MouseDO
RGD		 PMID:20372915 PMID:22226999 RGD:10755336, RGD:13432092 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:18273716 RGD:5509081 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 susceptibility IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar Annotator: match by term: Charcot disease		 ClinVar
RGD		 PMID:11586298 PMID:16199547 PMID:24315819 PMID:25741868 PMID:28492532 More... RGD:1599080 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G ANG angiogenin no_association IAGP
IEP		 DNA:mutations:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:missense mutations
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
protein:increased expression:cerebrospinal fluid		 ClinVar
RGD		 PMID:25741868 PMID:22190368 PMID:16501576 PMID:17462671 PMID:19177252 RGD:6892707, RGD:6892718, RGD:6892716, RGD:6892713 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G ANXA11 annexin A11 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28469040 PMID:28492532 More... NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G AOX1 aldehyde oxidase 1 IAGP RGD PMID:7570184 RGD:734575 NCBI chr 2:200,586,014...200,682,241
Ensembl chr 2:200,586,014...200,677,064 		JBrowse link
G APOE apolipoprotein E severity IAGP DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) RGD PMID:8899655 RGD:12880359 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G AQP4 aquaporin 4 ISO mRNA, protein:increased expression:spinal cord
protein:increased expression:brainstem		 RGD PMID:19089902 PMID:22987392 RGD:5490153, RGD:8662893 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G ATG5 autophagy related 5 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr 6:106,184,476...106,325,760
Ensembl chr 6:106,045,423...106,325,791 		JBrowse link
G ATOX1 antioxidant 1 copper chaperone disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 5:151,742,822...151,758,631
Ensembl chr 5:151,742,316...151,772,532 		JBrowse link
G ATXN2 ataxin 2 IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:27377857 PMID:28478440 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G BAD BCL2 associated agonist of cell death disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 treatment ISO RGD PMID:20890041 RGD:13506803 NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment
disease_progression
severity		 ISO RGD PMID:24699224 PMID:10582606 PMID:20195368 PMID:20890041 PMID:21193837 RGD:13506797, RGD:13506907, RGD:13506805, RGD:13506803, RGD:13506800 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BCL2L1 BCL2 like 1 treatment
disease_progression		 ISO RGD PMID:18543336 PMID:10582606 RGD:13506902, RGD:13506907 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989 		JBrowse link
G BECN1 beclin 1 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350 		JBrowse link
G BID BH3 interacting domain death agonist ISO RGD PMID:29440992 RGD:13506949 NCBI chr22:17,734,138...17,774,665
Ensembl chr22:17,734,138...17,774,770 		JBrowse link
G BNIP3L BCL2 interacting protein 3 like ISO RGD PMID:29440992 RGD:13506949 NCBI chr 8:26,383,054...26,413,127
Ensembl chr 8:26,383,054...26,505,636 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IEP mRNA,protein:increased expression:spinal cord: RGD PMID:9225734 RGD:9586057 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G C3 complement C3 ISO RGD PMID:19050293 RGD:5130169 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C5AR1 complement C5a receptor 1 ISO RGD PMID:19050293 RGD:5130169 NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:25442110 PMID:27713094 PMID:28122516 PMID:28478440 PMID:28973294 NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CALCA calcitonin related polypeptide alpha ISO RGD PMID:21964254 RGD:5684010 NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354 		JBrowse link
G CAMK1G calcium/calmodulin dependent protein kinase IG EXP CTD Direct Evidence: marker/mechanism CTD PMID:23624525 NCBI chr 1:209,583,714...209,613,939
Ensembl chr 1:209,583,714...209,613,939 		JBrowse link
G CAPN14 calpain 14 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:31,173,056...31,233,957
Ensembl chr 2:31,173,056...31,233,858 		JBrowse link
G CASP12 caspase 12 (gene/pseudogene) ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr11:104,883,286...104,898,460
Ensembl chr11:104,885,718...104,898,670 		JBrowse link
G CASP3 caspase 3 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		JBrowse link
G CASP9 caspase 9 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534 		JBrowse link
G CCNF cyclin F IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 disease_progression IEP protein:increased expression:plasma:
protein:decreased expression:monocyte:		 RGD PMID:16857270 PMID:16857270 RGD:8657363, RGD:8657363 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CCS copper chaperone for superoxide dismutase treatment IDA RGD PMID:26826269 RGD:13524551 NCBI chr11:66,593,185...66,606,019
Ensembl chr11:66,593,153...66,606,019 		JBrowse link
G CD40LG CD40 ligand ISO
EXP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:20348957 PMID:20348957 RGD:5490547 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CDK5 cyclin dependent kinase 5 ISO RGD PMID:11343650 RGD:734741 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 CTD
ClinVar		 PMID:25741868 PMID:27455348 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP ClinVar Annotator: match by term: Charcot disease ClinVar PMID:25576308 PMID:25741868 PMID:28492532 PMID:29540477 PMID:30014597 More... NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP
EXP		 DNA:mutations:cds:Q206H, I29V (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16807408 PMID:16807408 RGD:5688711 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295 		JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 PMID:29454195 PMID:31628766 NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:78,624,111...78,661,641
Ensembl chr15:78,624,111...78,727,754 		JBrowse link
G CNTF ciliary neurotrophic factor susceptibility ISO RGD PMID:11951178 RGD:734796 NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733 		JBrowse link
G CTSH cathepsin H ISO mRNA, protein:increased expression:spinal cord RGD PMID:17583678 RGD:5686391 NCBI chr15:78,921,058...78,945,046
Ensembl chr15:78,921,058...78,949,574 		JBrowse link
G DAO D-amino acid oxidase IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:25741868 NCBI chr12:108,880,092...108,901,043
Ensembl chr12:108,858,932...108,901,043 		JBrowse link
G DBR1 debranching RNA lariats 1 EXP CTD Direct Evidence: therapeutic CTD PMID:23104007 NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to
ClinVar Annotator: match by term: Charcot disease		 ClinVar PMID:15326253 PMID:16199547 PMID:16240349 PMID:17824900 PMID:18812314 More... NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G DDX20 DEAD-box helicase 20 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 1:111,755,901...111,768,000
Ensembl chr 1:111,754,832...111,775,602 		JBrowse link
G DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr17:41,976,435...42,017,439
Ensembl chr17:41,976,421...42,021,376 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO protein:decreased expression:mitochondrion: RGD PMID:24399935 RGD:9589066 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DPP6 dipeptidyl peptidase like 6 no_association IAGP
EXP		 DNA:SNP:intron:rs10260404 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18084291 PMID:18708572 PMID:20137488 RGD:5687188, RGD:5687181 NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G EGILA EGFR interacting lncRNA IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr14:20,693,480...20,706,941
Ensembl chr14:20,693,480...20,707,120 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IEP protein:increased expression:spinal cord RGD PMID:12675919 RGD:2301741 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		JBrowse link
G ELP3 elongator acetyltransferase complex subunit 3 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:28,090,232...28,191,153
Ensembl chr 8:28,089,673...28,191,156 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor ISS MouseDO NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G EPO erythropoietin disease_progression IEP protein:decreased expression:cerebrospinal fluid RGD PMID:17368721 RGD:10395391 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29895397 PMID:32065797 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G ERCC6L2 ERCC excision repair 6 like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30879219 NCBI chr 9:95,875,691...96,041,092
Ensembl chr 9:95,871,264...96,121,154 		JBrowse link
G ESRRA estrogen related receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr11:64,305,524...64,316,743
Ensembl chr11:64,305,497...64,316,743 		JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar Annotator: match by term: Charcot disease		 ClinVar PMID:2319578 PMID:7496176 PMID:9536098 PMID:17572665 PMID:17576681 More... NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FUS FUS RNA binding protein IAGP
EXP
IMP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:20138404 PMID:22863194 PMID:25382069 PMID:25558820 PMID:25741868 More... RGD:5509900, RGD:9685710 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G GDNF glial cell derived neurotrophic factor IEP mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G GFAP glial fibrillary acidic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11723166 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G GJC2 gap junction protein gamma 2 ISO protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) RGD PMID:24597481 RGD:13208591 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP ClinVar Annotator: match by term: Charcot disease
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 ClinVar PMID:25741868 PMID:28884921 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GLT8D1 glycosyltransferase 8 domain containing 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 3:52,694,486...52,705,791
Ensembl chr 3:52,694,486...52,706,032 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 treatment IDA human protein in a rat model RGD PMID:26113413 RGD:13506239 NCBI chr10:99,396,870...99,430,624
Ensembl chr10:99,396,870...99,430,624 		JBrowse link
G GRN granulin precursor disease_progression
onset		 IEP
IAGP
ISO		 protein:increased expression:spinal cord, microglia
DNA:mutations: :		 RGD PMID:21107132 PMID:18184915 PMID:21107132 RGD:5509593, RGD:5509619, RGD:5509593 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha IDA RGD PMID:12675919 RGD:2301741 NCBI chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta IDA RGD PMID:12675919 RGD:2301741 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994 		JBrowse link
G GSR glutathione-disulfide reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16681429 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16109392 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G HDAC4 histone deacetylase 4 severity IEP RGD PMID:23824486 RGD:9681450 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732 		JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857 		JBrowse link
G HMGB1 high mobility group box 1 severity IDA RGD PMID:23639787 RGD:10402056 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K ISO protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) RGD PMID:19323997 RGD:10058964 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G HRK harakiri, BCL2 interacting protein ISO RGD PMID:29440992 RGD:13506949 NCBI chr12:116,856,144...116,881,441
Ensembl chr12:116,856,144...116,881,441 		JBrowse link
G IGF1R insulin like growth factor 1 receptor onset ISO mRNA:decreased expression:spinal cord (rat) RGD PMID:18683239 RGD:12904708 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO protein:increased expression:spinal cord, astrocyte RGD PMID:18441505 RGD:2311519 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507 		JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 disease_progression ISO
IEP		 protein:increased expression, increased processing:serum
protein:increased processing:serum		 RGD PMID:23436019 PMID:23436019 RGD:40907060, RGD:40907060 NCBI chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688 		JBrowse link
G ITPR2 inositol 1,4,5-trisphosphate receptor type 2 susceptibility IAGP DNA:snp:intron:g.26636386A>G rs2306677 (human) RGD PMID:17827064 RGD:6482791 NCBI chr12:26,335,352...26,833,194
Ensembl chr12:26,335,352...26,833,194 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:470,295...746,103
Ensembl chr 9:470,291...746,105 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:brainstem RGD PMID:22987392 RGD:8662893 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KDR kinase insert domain receptor IEP protein:decreased expression:spinal cord RGD PMID:16410746 RGD:1580568 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 IEP mRNA:increased expression:primary motor cortex (human) RGD PMID:18957896 RGD:6893397 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G KIF1B kinesin family member 1B onset ISO mRNA:decreased expression:precentral gyrus (human)
mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse)		 RGD PMID:17418584 PMID:24904291 RGD:12738468, RGD:12738469 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G KIF5A kinesin family member 5A IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G LCN2 lipocalin 2 ISO protein:increased expression:spinal cord RGD PMID:23431168 RGD:126781758 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LOC101929270 uncharacterized LOC101929270 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar Annotator: match by term: Charcot disease		 ClinVar PMID:25741868 PMID:28884921 NCBI chr 9:128,528,611...128,552,413 JBrowse link
G LOC108903148 10p13 OPTN distal Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:13,108,545...13,110,667 JBrowse link
G LOC126807526 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:138657767-138658966 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:139,322,078...139,323,277 JBrowse link
G LOC126860782 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:135144739-135145938 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 9:132,268,683...132,270,655 JBrowse link
G LRRK2 leucine rich repeat kinase 2 IEP mRNA:increased expression:skeletal muscle RGD PMID:21375368 RGD:5508417 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G MAML1 mastermind like transcriptional coactivator 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 5:179,732,822...179,777,283
Ensembl chr 5:179,732,822...179,777,283 		JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr20:34,546,844...34,560,345
Ensembl chr20:34,546,854...34,560,345 		JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 6:136,557,046...136,793,091
Ensembl chr 6:136,557,046...136,793,097 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,782...36,111,236 		JBrowse link
G MATR3 matrin 3 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G MFN1 mitofusin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936 		JBrowse link
G MFN2 mitofusin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MIR206 microRNA 206 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22975021 PMID:27538595 NCBI chr 6:52,144,349...52,144,434
Ensembl chr 6:52,144,349...52,144,434 		JBrowse link
G MIR214 microRNA 214 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27538595 NCBI chr 1:172,138,798...172,138,907
Ensembl chr 1:172,138,798...172,138,907 		JBrowse link
G MIR23A microRNA 23a EXP CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr19:13,836,587...13,836,659
Ensembl chr19:13,836,587...13,836,659 		JBrowse link
G MIR424 microRNA 424 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27538595 NCBI chr  X:134,546,614...134,546,711
Ensembl chr  X:134,546,614...134,546,711 		JBrowse link
G MIR455 microRNA 455 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 9:114,209,434...114,209,529
Ensembl chr 9:114,209,434...114,209,529 		JBrowse link
G MMP1 matrix metallopeptidase 1 IEP protein:increased expression:serum (human) RGD PMID:19796283 RGD:7207054 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP2 matrix metallopeptidase 2 severity IEP
ISO		 protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord		 RGD PMID:19796283 PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity IEP
ISO		 protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord		 RGD PMID:19796283 PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MOBP myelin associated oligodendrocyte basic protein EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 CTD
ClinVar		 PMID:25741868 PMID:27455348 NCBI chr 3:39,467,680...39,529,497
Ensembl chr 3:39,467,198...39,529,479 		JBrowse link
G MSTN myostatin ISO RGD PMID:16837207 RGD:2303556 NCBI chr 2:190,055,700...190,062,729
Ensembl chr 2:190,055,700...190,062,729 		JBrowse link
G MT1A metallothionein 1A ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:16179515 RGD:6484130 NCBI chr16:56,638,666...56,640,087
Ensembl chr16:56,638,666...56,640,087 		JBrowse link
G MT1X metallothionein 1X ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:16179515 RGD:6484130 NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196 		JBrowse link
G MT2A metallothionein 2A onset ISO mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) RGD PMID:18000159 RGD:6482832 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497 		JBrowse link
G MT3 metallothionein 3 ISO
IEP		 RGD PMID:17097207 PMID:12388585 PMID:12417341 RGD:6480495, RGD:6480627, RGD:6480625 NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility
no_association		 IAGP DNA:polymorphism: :c.677C>T(human) RGD PMID:21128869 PMID:21868135 RGD:11565111, RGD:11565173 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTNR1A melatonin receptor 1A disease_progression ISO protein:decreased expression:spinal chord RGD PMID:23537713 RGD:13524569 NCBI chr 4:186,533,655...186,555,567
Ensembl chr 4:186,526,792...186,555,567 		JBrowse link
G MTREX Mtr4 exosome RNA helicase IEP mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:23006766 RGD:11041891 NCBI chr 5:55,307,989...55,425,579
Ensembl chr 5:55,307,989...55,425,579 		JBrowse link
G NEFH neurofilament heavy chain treatment IAGP
ISO		 DNA:deletions:cds:multiple (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:9931323 PMID:10686419 RGD:1302518, RGD:13525000 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEFL neurofilament light chain treatment
severity
disease_progression		 ISO
IEP
IDA		 protein:increased expression:serum (human)
protein:increased expression:serum, csf		 RGD PMID:10686419 PMID:30309882 PMID:26273687 RGD:13525000, RGD:127284877, RGD:13525006 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NEFM neurofilament medium chain ISO RGD PMID:16006557 RGD:9698444 NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098 		JBrowse link
G NEK1 NIMA related kinase 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 CTD
ClinVar		 PMID:25741868 PMID:26945885 PMID:27455347 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment IEP
EXP
ISO		 mRNA, protein:decreased expression:primary motor cortex, spinal cord (human)
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:27012417 PMID:18957896 PMID:22056419 RGD:6893397, RGD:10412690 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:spinal cord (mouse) RGD PMID:21867702 RGD:5509065 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NRF1 nuclear respiratory factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 7:129,611,720...129,757,076
Ensembl chr 7:129,611,720...129,757,082 		JBrowse link
G NRG1 neuregulin 1 ameliorates IMP RGD PMID:32032731 RGD:405295499 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666 		JBrowse link
G OPTN optineurin IEP
IAGP
EXP		 protein:increased expression:spinal cord, neuron
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)
DNA:missense mutations, nonsense mutation:cds, intron:multiple		 ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:21059646 PMID:25096716 PMID:25741868 More... RGD:6480502, RGD:6480506, RGD:6480504 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
G PFN1 profilin 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061 		JBrowse link
G PGF placental growth factor IEP RGD PMID:22119626 RGD:6483573 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
G PLA2G4A phospholipase A2 group IVA EXP CTD Direct Evidence: marker/mechanism CTD PMID:15816863 NCBI chr 1:186,828,949...186,988,981
Ensembl chr 1:186,828,949...186,988,981 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G PON1 paraoxonase 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 CTD
ClinVar		 PMID:25741868 PMID:28070599 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PON2 paraoxonase 2 IAGP DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 RGD PMID:16822964 RGD:5509925 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329 		JBrowse link
G PON3 paraoxonase 3 IAGP DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:16822964 RGD:5509925 NCBI chr 7:95,359,872...95,396,375
Ensembl chr 7:95,359,872...95,396,375 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IMP
EXP
IEP
ISO		 human gene in mouse model
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:motor cortex, muscle (human)
mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse)		 CTD
RGD		 PMID:22975021 PMID:22102466 PMID:23147503 PMID:23147503 RGD:6484265, RGD:7242019, RGD:7242019 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PPARGC1B PPARG coactivator 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 5:149,730,310...149,857,959
Ensembl chr 5:149,730,298...149,855,022 		JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO protein:increased expression:spinal cord, astrocyte, microglia (mouse) RGD PMID:23118353 RGD:9999418 NCBI chr19:48,872,421...48,876,058
Ensembl chr19:48,872,212...48,876,059 		JBrowse link
G PRPH peripherin IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to		 ClinVar PMID:15322088 PMID:15446584 PMID:25741868 PMID:28492532 PMID:32638105 NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686 		JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 ISS MouseDO NCBI chr19:39,971,165...39,981,764
Ensembl chr19:39,971,165...39,981,764 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP
EXP		 protein:increased expression:spinal cord, neuron, glia
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11220737 PMID:15816863 PMID:14511332 RGD:5688235 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 treatment ISO RGD PMID:25113670 RGD:9590123 NCBI chr 7:121,873,161...122,062,036
Ensembl chr 7:121,873,089...122,062,036 		JBrowse link
G RARA retinoic acid receptor alpha ISO RGD PMID:17956549 RGD:2314289 NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643 		JBrowse link
G RNASE4 ribonuclease A family member 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr14:20,684,560...20,701,216
Ensembl chr14:20,684,560...20,701,216 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:18000159 RGD:6482832 NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:18000159 RGD:6482832 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G SARM1 sterile alpha and TIR motif containing 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr17:28,371,694...28,404,049
Ensembl chr17:28,364,356...28,404,049 		JBrowse link
G SCFD1 sec1 family domain containing 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease		 CTD
ClinVar		 PMID:25741868 PMID:27455348 NCBI chr14:30,622,254...30,735,850
Ensembl chr14:30,622,291...30,737,694 		JBrowse link
G SERPINF1 serpin family F member 1 IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:12067231 RGD:8554892 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:18058631 PMID:23129421 PMID:23881933 PMID:25741868 PMID:26467025 More... NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SIRT1 sirtuin 1 ISO protein:increased expression:spinal cord (mouse) RGD PMID:17581637 RGD:2290573 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390 		JBrowse link
G SLC11A2 solute carrier family 11 member 2 onset IAGP DNA:SNP: :rs407135 (human) RGD PMID:21276595 RGD:5688710 NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566 		JBrowse link
G SLC1A2 solute carrier family 1 member 2 IEP
EXP		 mRNA:processing errors:spinal cord, motor cortex (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11723166 PMID:9539131 RGD:1302517 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063 		JBrowse link
G SLC31A1 solute carrier family 31 member 1 disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20132478 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28973294 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SOD1 superoxide dismutase 1 treatment IAGP
EXP
IDA
IEP		 human gene in a rat model;DNA:missense mutation:cds:p.G93A (human)
ClinVar Annotator: match by term: Charcot disease
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
protein:increased expression:cerebrospinal fluid (human)		 ClinVar
CTD
RGD		 PMID:7647793 PMID:7655469 PMID:7836951 PMID:7887412 PMID:8298637 More... RGD:2312367, RGD:13524551, RGD:8655880 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD1-DT SOD1 divergent transcript IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr21:31,653,587...31,660,024 JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8866423 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease		 ClinVar PMID:18337587 PMID:19466474 PMID:22696581 PMID:23733235 PMID:24833714 More... NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 PMID:33879512 PMID:34059824 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G SQSTM1 sequestosome 1 ISO
IAGP
EXP		 mRNA:increased expression:spinal cord
ClinVar Annotator: match by term: Charcot disease
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11473345 PMID:11992264 PMID:15125799 PMID:15176995 PMID:15493999 More... RGD:11561951 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G SS18L1 SS18L1 subunit of BAF chromatin remodeling complex IAGP
EXP		 ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:28973294 NCBI chr20:62,143,769...62,182,514
Ensembl chr20:62,143,769...62,182,514 		JBrowse link
G STEAP2 STEAP2 metalloreductase disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 7:90,211,740...90,243,408
Ensembl chr 7:90,167,590...90,238,137 		JBrowse link
G STMN2 stathmin 2 ISS MouseDO NCBI chr 8:79,611,117...79,666,158
Ensembl chr 8:79,611,117...79,666,158 		JBrowse link
G TARDBP TAR DNA binding protein disease_progression IMP
EXP
IAGP
IEP		 CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:mutation:cds:p.G295S(human)
protein:increased phosphorylation:brain
DNA:mutation:cds:p.M337V(human)		 CTD
RGD		 PMID:18372902 PMID:21167262 PMID:22879928 PMID:23104007 PMID:23891805 More... RGD:5687134, RGD:5687192, RGD:5687173, RGD:5687158, RGD:5687157, RGD:5687137 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP ClinVar Annotator: match by term: Charcot disease
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 ClinVar PMID:16199547 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 More... NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TFAM transcription factor A, mitochondrial severity IMP RGD PMID:22354563 RGD:6767572 NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:spinal cord RGD PMID:13678668 RGD:12904653 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF21 TNF receptor superfamily member 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24113175 NCBI chr 6:47,231,532...47,309,905
Ensembl chr 6:47,231,532...47,309,905 		JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577 		JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17434459 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TROAP-AS1 TROAP and PRPH antisense RNA 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to		 ClinVar PMID:15322088 PMID:15446584 PMID:25741868 PMID:28492532 PMID:32638105 NCBI chr12:49,292,631...49,324,576
Ensembl chr12:49,292,631...49,324,576 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to ClinVar PMID:16051700 PMID:19405049 PMID:25741868 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797 		JBrowse link
G TUBA4A tubulin alpha 4a EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 CTD
ClinVar		 PMID:25741868 PMID:28478440 NCBI chr 2:219,249,710...219,254,740
Ensembl chr 2:219,249,710...219,277,902 		JBrowse link
G TXNRD1 thioredoxin reductase 1 susceptibility IAGP DNA:SNPs:intron:rs6539137, rs4630362 (human) RGD PMID:18996185 RGD:5685032 NCBI chr12:104,215,779...104,350,307
Ensembl chr12:104,215,779...104,350,307 		JBrowse link
G UBB ubiquitin B EXP CTD Direct Evidence: marker/mechanism CTD PMID:22994484 NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745 		JBrowse link
G UBQLN2 ubiquilin 2 IAGP ClinVar Annotator: match by term: Lou Gehrig disease ClinVar
RGD		 PMID:21857683 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 More... RGD:5147832 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
G UNC13A unc-13 homolog A no_association IAGP
EXP		 DNA:SNP:intron:rs12608932 (human)
ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:19734901 PMID:25741868 PMID:27790088 PMID:20385924 PMID:19734901 RGD:5686382, RGD:5686384 NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365 		JBrowse link
G VAPB VAMP associated protein B and C IAGP DNA:missense mutation:cds:p.P56S (human) RGD PMID:15372378 RGD:5688230 NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Charcot disease ClinVar PMID:15034582 PMID:18845250 PMID:20604808 PMID:22270372 PMID:22909335 More... NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:SNP:intron:rs7975232(human) RGD PMID:26190642 RGD:11560790 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VEGFA vascular endothelial growth factor A IEP RGD PMID:16410746 RGD:1580568 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G ZNF106 zinc finger protein 106 ISS MouseDO NCBI chr15:42,412,823...42,491,141
Ensembl chr15:42,412,823...42,491,141 		JBrowse link
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,903,453...33,915,804
Ensembl chr21:33,903,453...33,915,814 		JBrowse link
G BCL2L1 BCL2 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989 		JBrowse link
G BSG basigin (Ok blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:571,283...583,493
Ensembl chr19:571,277...583,494 		JBrowse link
G CALB2 calbindin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:71,358,723...71,390,433
Ensembl chr16:71,358,713...71,390,436 		JBrowse link
G CASP1 caspase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250 		JBrowse link
G CBR1 carbonyl reductase 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:36,070,024...36,073,164
Ensembl chr21:36,069,941...36,073,166 		JBrowse link
G CBR3 carbonyl reductase 3 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:36,135,079...36,146,562
Ensembl chr21:36,135,079...36,146,562 		JBrowse link
G CD68 CD68 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111 		JBrowse link
G CD7 CD7 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:82,314,873...82,317,608
Ensembl chr17:82,314,868...82,317,608 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603 		JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:36,385,392...36,419,015
Ensembl chr21:36,385,392...36,419,015 		JBrowse link
G CLDN14 claudin 14 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569 		JBrowse link
G CLIC6 chloride intracellular channel 6 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:34,668,994...34,718,223
Ensembl chr21:34,668,994...34,718,227 		JBrowse link
G CLU clusterin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G CNTF ciliary neurotrophic factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733 		JBrowse link
G CREBBP CREB binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRYZL1 crystallin zeta like 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,589,341...33,641,741
Ensembl chr21:33,589,341...33,643,926 		JBrowse link
G CST3 cystatin C EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473 		JBrowse link
G CTSD cathepsin D EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573 		JBrowse link
G DBX1 developing brain homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:20,156,155...20,160,475
Ensembl chr11:20,156,155...20,160,475 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP
EXP		 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 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,488,055...33,491,716
Ensembl chr21:33,488,055...33,491,716 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G DOP1B DOP1 leucine zipper like protein B IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:36,156,824...36,294,274
Ensembl chr21:36,156,782...36,294,274 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EPCIP exosomal polycystin 1 interacting protein IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:32,790,673...32,813,703
Ensembl chr21:32,790,673...32,813,743 		JBrowse link
G EVA1C eva-1 homolog C IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:32,411,723...32,515,387
Ensembl chr21:32,412,006...32,515,397 		JBrowse link
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FGF6 fibroblast growth factor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:4,434,142...4,445,815
Ensembl chr12:4,428,155...4,445,815 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FMO1 flavin containing dimethylaniline monoxygenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr 1:171,248,494...171,285,978
Ensembl chr 1:171,248,471...171,285,978 		JBrowse link
G FOLH1 folate hydrolase 1 treatment ISO RGD PMID:12876198 RGD:737756 NCBI chr11:49,145,092...49,208,602
Ensembl chr11:49,145,092...49,208,638 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230 		JBrowse link
G FUS FUS RNA binding protein IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:28492532 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,503,931...33,542,893
Ensembl chr21:33,503,931...33,543,491 		JBrowse link
G GBX2 gastrulation brain homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:236,161,340...236,168,386
Ensembl chr 2:236,165,236...236,168,386 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467 		JBrowse link
G GFAP glial fibrillary acidic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G GSX2 GS homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:54,100,163...54,102,498
Ensembl chr 4:54,099,523...54,102,498 		JBrowse link
G HLCS holocarboxylase synthetase IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:36,748,625...36,990,211
Ensembl chr21:36,748,626...36,990,236 		JBrowse link
G HSF1 heat shock transcription factor 1 EXP CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720 		JBrowse link
G HUNK hormonally up-regulated Neu-associated kinase IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:31,873,020...32,004,064
Ensembl chr21:31,873,020...32,044,633 		JBrowse link
G IFNAR1 interferon alpha and beta receptor subunit 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,324,395...33,359,864
Ensembl chr21:33,324,387...33,359,864 		JBrowse link
G IFNAR2 interferon alpha and beta receptor subunit 2 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,229,938...33,265,664
Ensembl chr21:33,205,282...33,265,675 		JBrowse link
G IFNGR2 interferon gamma receptor 2 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,402,882...33,437,516
Ensembl chr21:33,403,413...33,479,348 		JBrowse link
G IL10RB interleukin 10 receptor subunit beta IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420 		JBrowse link
G INA internexin neuronal intermediate filament protein alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:103,277,138...103,290,346
Ensembl chr10:103,277,138...103,290,346 		JBrowse link
G ITSN1 intersectin 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,642,501...33,899,861
Ensembl chr21:33,642,400...33,899,861 		JBrowse link
G JAK3 Janus kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G JUND JunD proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:18,279,694...18,281,622
Ensembl chr19:18,279,694...18,281,622 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,364,006...34,371,381 		JBrowse link
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345 		JBrowse link
G KIF3C kinesin family member 3C EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:25,926,598...25,982,497
Ensembl chr 2:25,926,598...25,982,749 		JBrowse link
G KIF5A kinesin family member 5A ISO mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KIF5C kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759 		JBrowse link
G LAT linker for activation of T cells EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784 		JBrowse link
G LDLR low density lipoprotein receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LOC130066253 ATAC-STARR-seq lymphoblastoid silent region 13072 IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr20:58,388,938...58,389,377 JBrowse link
G LOC130066532 ATAC-STARR-seq lymphoblastoid silent region 13241 IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr21:31,659,306...31,659,625 JBrowse link
G MASP2 MBL associated serine protease 2 IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239 		JBrowse link
G MIS18A MIS18 kinetochore protein A IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:32,154,682...32,279,049
Ensembl chr21:32,268,228...32,279,049 		JBrowse link
G MORC3 MORC family CW-type zinc finger 3 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:36,320,197...36,376,632
Ensembl chr21:36,320,189...36,386,148 		JBrowse link
G MRAP melanocortin 2 receptor accessory protein IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784 		JBrowse link
G MRPS6 mitochondrial ribosomal protein S6 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:34,073,578...34,143,030
Ensembl chr21:34,073,224...34,143,034 		JBrowse link
G MT1X metallothionein 1X ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196 		JBrowse link
G NEFH neurofilament heavy chain EXP
IAGP		 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 type 1 | ClinVar Annotator: match by term: NEFH-related condition		 CTD
OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28749476 PMID:29411640 PMID:29650794 More... NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G OLIG1 oligodendrocyte transcription factor 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,070,141...33,072,413
Ensembl chr21:33,070,141...33,072,413 		JBrowse link
G OLIG2 oligodendrocyte transcription factor 2 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,025,935...33,029,185
Ensembl chr21:33,025,935...33,029,196 		JBrowse link
G OTOG otogelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		JBrowse link
G PAXBP1 PAX3 and PAX7 binding protein 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:32,733,899...32,771,755
Ensembl chr21:32,733,899...32,771,792 		JBrowse link
G PDGFA platelet derived growth factor subunit A EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296 		JBrowse link
G PENK proenkephalin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:56,440,957...56,446,641
Ensembl chr 8:56,436,674...56,446,671 		JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170 		JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PRPH peripherin susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686 		JBrowse link
G RCAN1 regulator of calcineurin 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:34,516,442...34,615,113
Ensembl chr21:34,513,142...34,615,113 		JBrowse link
G RIPPLY3 ripply transcriptional repressor 3 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:37,006,150...37,019,662
Ensembl chr21:37,006,150...37,019,662 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G RXRA retinoid X receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585 		JBrowse link
G SCAF4 SR-related CTD associated factor 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:25741868 PMID:28492532 NCBI chr21:31,671,000...31,732,118
Ensembl chr21:31,671,000...31,732,118 		JBrowse link
G SELPLG selectin P ligand EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:108,621,895...108,633,894
Ensembl chr12:108,621,895...108,633,894 		JBrowse link
G SETD4 SET domain containing 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:36,034,541...36,060,526
Ensembl chr21:36,034,541...36,079,389 		JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1		 ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SHC1 SHC adaptor protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395 		JBrowse link
G SIM2 SIM bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:36,699,115...36,749,917
Ensembl chr21:36,699,115...36,749,917 		JBrowse link
G SIX2 SIX homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452 		JBrowse link
G SLC5A3 solute carrier family 5 member 3 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:34,073,578...34,106,260
Ensembl chr21:34,073,578...34,106,260 		JBrowse link
G SMIM11 small integral membrane protein 11 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:34,375,507...34,389,151
Ensembl chr21:34,375,480...34,416,961 		JBrowse link
G SNAI1 snail family transcriptional repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886 		JBrowse link
G SNCG synuclein gamma ISS OMIM:105400 MouseDO NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258 		JBrowse link
G SOD1 superoxide dismutase 1 IAGP
ISS
EXP		 DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
OMIM:105400
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.D90A (human)
DNA:missense mutation:cds:p.I113T (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1248932 PMID:1259395 PMID:1463506 PMID:2517465 PMID:7496169 More... RGD:737689, RGD:8655873, RGD:8655862, RGD:8655618 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD1-DT SOD1 divergent transcript IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1		 ClinVar PMID:1248932 PMID:7655471 PMID:7887412 PMID:7911198 PMID:7951249 More... NCBI chr21:31,653,587...31,660,024 JBrowse link
G SOD2 superoxide dismutase 2 ISS OMIM:105400 MouseDO NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SON SON DNA and RNA binding protein IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G TARDBP TAR DNA binding protein IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More... NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528 		JBrowse link
G TCP10L t-complex 10 like IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:32,573,721...32,585,523
Ensembl chr21:32,497,967...32,587,373 		JBrowse link
G TIAM1 TIAM Rac1 associated GEF 1 EXP
IAGP		 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 chr21:31,118,418...31,559,087
Ensembl chr21:31,118,416...31,559,977 		JBrowse link
G TLE3 TLE family member 3, transcriptional corepressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr15:70,047,790...70,097,917
Ensembl chr15:70,047,790...70,098,176 		JBrowse link
G TMEM50B transmembrane protein 50B IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:33,432,486...33,479,974
Ensembl chr21:33,432,485...33,479,974 		JBrowse link
G TMSB4X thymosin beta 4 X-linked EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:12,975,110...12,977,223
Ensembl chr  X:12,975,110...12,977,227 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TROAP-AS1 TROAP and PRPH antisense RNA 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:25741868 NCBI chr12:49,292,631...49,324,576
Ensembl chr12:49,292,631...49,324,576 		JBrowse link
G TTC3 tetratricopeptide repeat domain 3 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:37,073,254...37,203,118
Ensembl chr21:37,073,226...37,203,112 		JBrowse link
G UBQLN2 ubiquilin 2 IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:19377476 PMID:22560112 PMID:23138764 PMID:25741868 PMID:26467025 More... NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
G UNC13A unc-13 homolog A IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:25741868 NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365 		JBrowse link
G URB1 URB1 ribosome biogenesis homolog IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:32,311,018...32,393,012
Ensembl chr21:32,311,018...32,393,012 		JBrowse link
G VAPB VAMP associated protein B and C IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VEGFA vascular endothelial growth factor A ISS OMIM:105400 MouseDO NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G VIM vimentin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		JBrowse link
G VPS26C VPS26 endosomal protein sorting factor C IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr21:37,223,420...37,268,108
Ensembl chr21:37,223,420...37,267,919 		JBrowse link
G VPS54 VPS54 subunit of GARP complex ISS OMIM:105400 MouseDO NCBI chr 2:63,892,150...64,019,428
Ensembl chr 2:63,892,146...64,019,428 		JBrowse link
G WNT7A Wnt family member 7A EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G XIAP X-linked inhibitor of apoptosis EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
amyotrophic lateral sclerosis type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G EGILA EGFR interacting lncRNA IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532 NCBI chr14:20,693,480...20,706,941
Ensembl chr14:20,693,480...20,707,120 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G GRN granulin precursor IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:16862116 PMID:16950801 PMID:17698705 PMID:22608501 PMID:25741868 More... NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G LOC124629354 Sharpr-MPRA regulatory region 11953 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 NCBI chr12:49,297,052...49,297,700 JBrowse link
G MASP2 MBL associated serine protease 2 IAGP ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA ClinVar NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239 		JBrowse link
G OPTN optineurin IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:20428114 PMID:21802176 PMID:21852022 PMID:25741868 PMID:26203661 More... NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
G PRPH peripherin IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686 		JBrowse link
G RNASE4 ribonuclease A family member 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532 NCBI chr14:20,684,560...20,701,216
Ensembl chr14:20,684,560...20,701,216 		JBrowse link
G SOD1 superoxide dismutase 1 IAGP ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA ClinVar PMID:7891072 PMID:8351519 PMID:8446170 PMID:9008494 PMID:9029070 More... NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G TARDBP TAR DNA binding protein IAGP
ISS
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar Annotator: match by term: TARDBP-related condition
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
OMIM:612069
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED		 ClinVar
MouseDO
CTD
OMIM		 PMID:18068872 PMID:18288693 PMID:18309045 PMID:18372902 PMID:18396105 More... NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528 		JBrowse link
G TROAP-AS1 TROAP and PRPH antisense RNA 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 NCBI chr12:49,292,631...49,324,576
Ensembl chr12:49,292,631...49,324,576 		JBrowse link
G TUBA4A tubulin alpha 4a IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 NCBI chr 2:219,249,710...219,254,740
Ensembl chr 2:219,249,710...219,277,902 		JBrowse link
amyotrophic lateral sclerosis type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 More... NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
amyotrophic lateral sclerosis type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC108903148 10p13 OPTN distal Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 ClinVar PMID:11834836 PMID:11978762 PMID:12208142 PMID:15326130 PMID:15761120 More... NCBI chr10:13,108,545...13,110,667 JBrowse link
G LOC108903149 10p13 OPTN proximal Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 ClinVar PMID:20428114 NCBI chr10:13,111,416...13,112,247 JBrowse link
G LOC130003370 ATAC-STARR-seq lymphoblastoid silent region 2150 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 ClinVar NCBI chr10:13,099,969...13,100,538 JBrowse link
G OPTN optineurin IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 PMID:12939304 More... NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130068339 ATAC-STARR-seq lymphoblastoid active region 29687 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 ClinVar PMID:28492532 NCBI chr  X:56,564,354...56,564,553 JBrowse link
G LOC130068340 ATAC-STARR-seq lymphoblastoid active region 29688 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 ClinVar PMID:21857683 PMID:25741868 PMID:28492532 NCBI chr  X:56,564,564...56,564,623 JBrowse link
G UBQLN2 ubiquilin 2 IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 More... NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
amyotrophic lateral sclerosis type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21842496 PMID:24088041 PMID:25175561 PMID:25704016 PMID:25741868 More... NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
amyotrophic lateral sclerosis type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PFN1 profilin 1 IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 18 | ClinVar Annotator: match by term: PFN1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22801503 PMID:24309268 PMID:25741868 PMID:26908597 PMID:28492532 More... NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061 		JBrowse link
amyotrophic lateral sclerosis type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19
ClinVar Annotator: match by term: ERBB4-related condition
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 | ClinVar Annotator: match by term: ERBB4-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:24119685 PMID:25741868 PMID:28492532 More... NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
amyotrophic lateral sclerosis type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23455423 PMID:25741868 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126807526 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:138657767-138658966 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2		 ClinVar PMID:9536098 PMID:17576681 PMID:24686783 PMID:25741868 PMID:25771394 More... NCBI chr 5:139,322,078...139,323,277 JBrowse link
G LOC129994755 ATAC-STARR-seq lymphoblastoid silent region 16407 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 ClinVar NCBI chr 5:139,274,095...139,274,174 JBrowse link
G MATR3 matrin 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2
OMIM:606070
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G SNHG4 small nucleolar RNA host gene 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 ClinVar PMID:9536098 PMID:17576681 PMID:26493020 PMID:28492532 NCBI chr 5:139,274,101...139,284,900
Ensembl chr 5:139,274,102...139,284,899 		JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBA4A tubulin alpha 4a IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25374358 PMID:25741868 NCBI chr 2:219,249,710...219,254,740
Ensembl chr 2:219,249,710...219,277,902 		JBrowse link
amyotrophic lateral sclerosis type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA11 annexin A11 IAGP ClinVar Annotator: match by term: ANXA11-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 OMIM
ClinVar		 PMID:25741868 PMID:28469040 PMID:28492532 PMID:29650794 PMID:29845112 More... NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G LOC126860977 CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:81917938-81919137 IAGP ClinVar Annotator: match by term: ANXA11-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr10:80,158,182...80,159,381 JBrowse link
G LOC130004184 ATAC-STARR-seq lymphoblastoid silent region 2543 IAGP ClinVar Annotator: match by term: ANXA11-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr10:80,169,177...80,169,296 JBrowse link
amyotrophic lateral sclerosis type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK1 NIMA related kinase 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24 ClinVar
OMIM		 PMID:21211617 PMID:22499340 PMID:24033266 PMID:25741868 PMID:26945885 More... NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
amyotrophic lateral sclerosis type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF5A kinesin family member 5A susceptibility IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25
ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
amyotrophic lateral sclerosis type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:26627873 PMID:28492532 PMID:28817800 More... NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
amyotrophic lateral sclerosis type 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP12 LDL receptor related protein 12 IAGP OMIM NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FUS FUS RNA binding protein IAGP
ISS
EXP		 DNA:mutations:cds:
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
OMIM:608030
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 More... RGD:9685712 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 ClinVar PMID:30103325 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
amyotrophic lateral sclerosis type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130066253 ATAC-STARR-seq lymphoblastoid silent region 13072 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar NCBI chr20:58,388,938...58,389,377 JBrowse link
G VAPB VAMP associated protein B and C IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:15372378 PMID:16187141 PMID:16967488 PMID:17576681 More... NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
amyotrophic lateral sclerosis type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar Annotator: match by term: ANG-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 More... NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G EGILA EGFR interacting lncRNA IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar Annotator: match by term: ANG-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9		 ClinVar PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 More... NCBI chr14:20,693,480...20,706,941
Ensembl chr14:20,693,480...20,707,120 		JBrowse link
G LOC130055269 ATAC-STARR-seq lymphoblastoid silent region 5574 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 ClinVar NCBI chr14:20,684,362...20,684,481 JBrowse link
G LOC130055270 ATAC-STARR-seq lymphoblastoid active region 8093 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 ClinVar NCBI chr14:20,684,712...20,684,851 JBrowse link
G RNASE4 ribonuclease A family member 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar Annotator: match by term: ANG-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9		 ClinVar PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 More... NCBI chr14:20,684,560...20,701,216
Ensembl chr14:20,684,560...20,701,216 		JBrowse link
Amyotrophic Lateral Sclerosis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G LOC129935419 ATAC-STARR-seq lymphoblastoid active region 16992 IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr 2:201,780,903...201,780,972 JBrowse link
G LOC129935420 ATAC-STARR-seq lymphoblastoid active region 16993 IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr 2:201,780,983...201,781,212 JBrowse link
G LOC130003370 ATAC-STARR-seq lymphoblastoid silent region 2150 IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr10:13,099,969...13,100,538 JBrowse link
G OPTN optineurin IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARK7 Parkinsonism associated deglycase IAGP ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 susceptibility
no_association		 IAGP
EXP		 DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Guam disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:25741868 PMID:28492532 PMID:16051700 PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM10 ADAM metallopeptidase domain 10 IAGP ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866 		JBrowse link
G LOC125418073 CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:38567734-38568933 IAGP ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr21:37,195,433...37,196,632 JBrowse link
G TTC3 tetratricopeptide repeat domain 3 IAGP ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr21:37,073,254...37,203,118
Ensembl chr21:37,073,226...37,203,112 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G C5orf60 chromosome 5 open reading frame 60 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,641,544...179,645,046
Ensembl chr 5:179,641,544...179,658,432 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit IAGP
EXP		 ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26769963 PMID:28492532 NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866 		JBrowse link
G CANX calnexin IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,678,656...179,731,641
Ensembl chr 5:179,678,628...179,731,641 		JBrowse link
G CBY3 chibby family member 3 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,678,560...179,681,034
Ensembl chr 5:179,678,560...179,681,034 		JBrowse link
G GRM6 glutamate metabotropic receptor 6 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:178,978,327...178,995,320
Ensembl chr 5:178,977,587...178,996,206 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G LOC109504728 chromosome 9 open reading frame 72 repeat instability region IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar NCBI chr 9:27,573,485...27,573,546 JBrowse link
G LOC112997583 Sharpr-MPRA regulatory region 15558 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:12374763 PMID:14584883 PMID:16813535 PMID:25664955 PMID:28492532 NCBI chr 5:179,836,769...179,837,063 JBrowse link
G LOC129929032 ATAC-STARR-seq lymphoblastoid silent region 19822 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar NCBI chr 9:27,573,475...27,573,554 JBrowse link
G LOC129995449 ATAC-STARR-seq lymphoblastoid silent region 16749 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26467025 More... NCBI chr 5:179,821,070...179,821,329 JBrowse link
G LTC4S leukotriene C4 synthase IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,793,986...179,796,647
Ensembl chr 5:179,793,980...179,796,647 		JBrowse link
G MAML1 mastermind like transcriptional coactivator 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,732,822...179,777,283
Ensembl chr 5:179,732,822...179,777,283 		JBrowse link
G MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,797,597...179,806,866
Ensembl chr 5:179,797,597...179,806,952 		JBrowse link
G RUFY1 RUN and FYVE domain containing 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,550,554...179,610,012
Ensembl chr 5:179,550,554...179,610,012 		JBrowse link
G SQSTM1 sequestosome 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:9536098 PMID:11473345 PMID:11992264 PMID:12374763 PMID:14584883 More... NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G ZNF354C zinc finger protein 354C IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,060,373...179,083,977
Ensembl chr 5:179,060,373...179,083,977 		JBrowse link
G ZNF879 zinc finger protein 879 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,023,804...179,035,064
Ensembl chr 5:179,023,804...179,035,064 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C22orf15 chromosome 22 open reading frame 15 IAGP ClinVar Annotator: match by term: FTDALS2 ClinVar PMID:28492532 NCBI chr22:23,762,990...23,765,863
Ensembl chr22:23,762,990...23,765,863 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP
EXP		 ClinVar Annotator: match by term: FTDALS2
ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 More... NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: FTDALS2 ClinVar PMID:11222789 PMID:14985266 PMID:16534102 PMID:17661097 PMID:18200586 More... NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129995449 ATAC-STARR-seq lymphoblastoid silent region 16749 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 ClinVar PMID:25741868 NCBI chr 5:179,821,070...179,821,329 JBrowse link
G SQSTM1 sequestosome 1 IAGP
EXP		 ClinVar Annotator: match by term: FTDALS3
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15176995 More... NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF5A kinesin family member 5A IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G TBK1 TANK binding kinase 1 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
ClinVar Annotator: match by term: FTDALS4
ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 More... NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD18B ankyrin repeat domain 18B IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,524,251...33,575,442
Ensembl chr 9:33,524,251...33,608,848 		JBrowse link
G APTX aprataxin IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G AQP3 aquaporin 3 (Gill blood group) IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,441,160...33,447,593
Ensembl chr 9:33,441,156...33,447,596 		JBrowse link
G AQP7 aquaporin 7 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,383,191...33,402,568
Ensembl chr 9:33,383,179...33,402,682 		JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,659,343...35,665,195
Ensembl chr 9:35,658,875...35,675,866 		JBrowse link
G ARID3C AT-rich interaction domain 3C IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,621,049...34,633,011
Ensembl chr 9:34,621,049...34,629,066 		JBrowse link
G ATOSB atos homolog B IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,104,117...35,116,380
Ensembl chr 9:35,104,112...35,116,341 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,104,082...33,167,356 		JBrowse link
G BAG1 BAG cochaperone 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,252,471...33,264,708
Ensembl chr 9:33,247,820...33,264,720 		JBrowse link
G CA9 carbonic anhydrase 9 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,673,928...35,681,159
Ensembl chr 9:35,673,928...35,681,159 		JBrowse link
G CCDC107 coiled-coil domain containing 107 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,658,292...35,661,511
Ensembl chr 9:35,658,290...35,661,511 		JBrowse link
G CCIN calicin IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:36,169,388...36,171,334
Ensembl chr 9:36,169,388...36,171,334 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136 		JBrowse link
G CCL27 C-C motif chemokine ligand 27 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,661,890...34,662,657
Ensembl chr 9:34,661,880...34,664,048 		JBrowse link
G CD72 CD72 molecule IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,609,982...35,646,857
Ensembl chr 9:35,609,982...35,646,810 		JBrowse link
G CHMP5 charged multivesicular body protein 5 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,265,049...33,282,070
Ensembl chr 9:33,264,879...33,282,070 		JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,561,831...35,563,878
Ensembl chr 9:35,561,831...35,563,899 		JBrowse link
G CLTA clathrin light chain A IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:36,190,874...36,212,059
Ensembl chr 9:36,190,856...36,304,781 		JBrowse link
G CNTFR ciliary neurotrophic factor receptor IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,551,433...34,590,852
Ensembl chr 9:34,551,432...34,590,140 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,732,666...35,736,999
Ensembl chr 9:35,732,598...35,736,999 		JBrowse link
G DCAF12 DDB1 and CUL4 associated factor 12 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,086,387...34,126,698
Ensembl chr 9:34,086,387...34,127,399 		JBrowse link
G DCTN3 dynactin subunit 3 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,613,546...34,620,495
Ensembl chr 9:34,613,545...34,620,523 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,025,273...33,039,907
Ensembl chr 9:33,025,273...33,039,907 		JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,989,745...34,998,900
Ensembl chr 9:34,989,641...34,998,900 		JBrowse link
G ENHO energy homeostasis associated IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,521,043...34,522,990
Ensembl chr 9:34,521,043...34,522,990 		JBrowse link
G EXOSC3 exosome component 3 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G FAM219A family with sequence similarity 219 member A IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,398,184...34,458,570
Ensembl chr 9:34,398,184...34,458,570 		JBrowse link
G FAM221B family with sequence similarity 221 member B IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,816,391...35,828,732
Ensembl chr 9:35,816,391...35,828,747 		JBrowse link
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FBXO10 F-box protein 10 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:37,510,892...37,576,380
Ensembl chr 9:37,510,892...37,576,380 		JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:37,603,229...37,746,904
Ensembl chr 9:37,650,954...37,746,904 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:36,136,536...36,163,913
Ensembl chr 9:36,136,536...36,163,913 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,812,960...35,815,479
Ensembl chr 9:35,812,960...35,815,354 		JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,906,202...35,907,136
Ensembl chr 9:35,906,202...35,907,136 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902 		JBrowse link
G KIF24 kinesin family member 24 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,252,380...34,333,671
Ensembl chr 9:34,252,380...34,329,268 		JBrowse link
G MELK maternal embryonic leucine zipper kinase IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:36,572,895...36,677,682
Ensembl chr 9:36,572,862...36,677,683 		JBrowse link
G MSMP microseminoprotein, prostate associated IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,752,990...35,754,276
Ensembl chr 9:35,752,990...35,756,613 		JBrowse link
G MYORG myogenesis regulating glycosidase (putative) IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:32,553,001...32,573,159
Ensembl chr 9:32,553,001...32,573,184 		JBrowse link
G NFX1 nuclear transcription factor, X-box binding 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,290,516...33,371,157
Ensembl chr 9:33,290,512...33,371,157 		JBrowse link
G NOL6 nucleolar protein 6 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,461,353...33,473,924
Ensembl chr 9:33,461,353...33,473,930 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NUDT2 nudix hydrolase 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,329,569...34,343,699
Ensembl chr 9:34,329,506...34,343,711 		JBrowse link
G OR13J1 olfactory receptor family 13 subfamily J member 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,869,463...35,870,401
Ensembl chr 9:35,869,463...35,870,401 		JBrowse link
G OR2S2 olfactory receptor family 2 subfamily S member 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,957,108...35,958,154
Ensembl chr 9:35,957,108...35,958,154 		JBrowse link
G PAX5 paired box 5 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:36,833,269...37,034,268
Ensembl chr 9:36,833,269...37,034,268 		JBrowse link
G PHF24 PHD finger protein 24 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,665,607...34,982,544
Ensembl chr 9:34,957,608...34,982,544 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619 		JBrowse link
G POLR1E RNA polymerase I subunit E IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:37,485,948...37,503,697
Ensembl chr 9:37,485,948...37,503,697 		JBrowse link
G PRSS3 serine protease 3 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,750,679...33,799,231
Ensembl chr 9:33,750,679...33,799,231 		JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:36,036,913...36,124,455
Ensembl chr 9:36,036,913...36,124,455 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,749,287...35,790,428
Ensembl chr 9:35,749,287...35,758,585 		JBrowse link
G RIGI RNA sensor RIG-I IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNF38 ring finger protein 38 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:36,336,400...36,487,669
Ensembl chr 9:36,336,396...36,487,548 		JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,610,495...34,612,097
Ensembl chr 9:34,610,486...34,612,104 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,649,295...35,650,931
Ensembl chr 9:35,649,295...35,650,931 		JBrowse link
G SMU1 SMU1 DNA replication regulator and spliceosomal factor IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,041,765...33,076,674
Ensembl chr 9:33,041,765...33,076,674 		JBrowse link
G SPAG8 sperm associated antigen 8 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,807,785...35,812,262
Ensembl chr 9:35,808,045...35,812,272 		JBrowse link
G SPATA31F1 SPATA31 subfamily F member 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,723,053...34,729,488
Ensembl chr 9:34,723,053...34,729,488 		JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,041,095...35,045,986
Ensembl chr 9:35,041,095...35,045,986 		JBrowse link
G SPINK4 serine peptidase inhibitor Kazal type 4 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,240,167...33,248,567
Ensembl chr 9:33,218,365...33,248,567 		JBrowse link
G SPMIP6 sperm microtubule inner protein 6 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,379,019...34,397,810
Ensembl chr 9:34,379,019...34,397,828 		JBrowse link
G STOML2 stomatin like 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,099,776...35,103,195
Ensembl chr 9:35,099,776...35,103,195 		JBrowse link
G TAF1L TATA-box binding protein associated factor 1 like IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:32,629,454...32,635,669
Ensembl chr 9:32,629,454...32,635,669 		JBrowse link
G TESK1 testis associated actin remodelling kinase 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,605,262...35,610,033
Ensembl chr 9:35,605,262...35,610,041 		JBrowse link
G TLN1 talin 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,696,948...35,732,195
Ensembl chr 9:35,696,948...35,732,195 		JBrowse link
G TMEM215 transmembrane protein 215 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:32,783,540...32,789,201
Ensembl chr 9:32,783,540...32,789,201 		JBrowse link
G TMEM8B transmembrane protein 8B IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,829,228...35,865,515
Ensembl chr 9:35,814,451...35,865,518 		JBrowse link
G TOMM5 translocase of outer mitochondrial membrane 5 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:37,588,413...37,592,597
Ensembl chr 9:37,582,646...37,592,604 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TRMT10B tRNA methyltransferase 10B IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:37,752,901...37,778,972
Ensembl chr 9:37,753,803...37,778,972 		JBrowse link
G UBAP1 ubiquitin associated protein 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523 		JBrowse link
G UBAP2 ubiquitin associated protein 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,921,693...34,049,199
Ensembl chr 9:33,921,693...34,049,388 		JBrowse link
G UBE2R2 ubiquitin conjugating enzyme E2 R2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:33,815,168...33,920,399
Ensembl chr 9:33,817,160...33,920,399 		JBrowse link
G UNC13B unc-13 homolog B IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:35,162,009...35,405,335
Ensembl chr 9:35,161,992...35,405,338 		JBrowse link
G VCP valosin containing protein IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7182974 PMID:9536098 PMID:12446676 PMID:15034582 PMID:16247064 More... NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G ZBTB5 zinc finger and BTB domain containing 5 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:37,438,102...37,465,450
Ensembl chr 9:37,438,102...37,465,450 		JBrowse link
G ZCCHC7 zinc finger CCHC-type containing 7 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 9:37,120,167...37,358,149
Ensembl chr 9:37,120,574...37,358,149 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHMP2B charged multivesicular body protein 2B IAGP
EXP		 ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 More... NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G LOC129937085 ATAC-STARR-seq lymphoblastoid active region 20113 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ClinVar NCBI chr 3:87,227,261...87,227,330 JBrowse link
G LOC129937086 ATAC-STARR-seq lymphoblastoid active region 20114 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ClinVar NCBI chr 3:87,227,401...87,227,520 JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ClinVar PMID:28492532 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC106820.5 novel transcript IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 ClinVar PMID:27080313 NCBI chr16:2,456,066...2,459,978
Ensembl chr16:2,456,252...2,459,979 		JBrowse link
G CCNF cyclin F IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 OMIM
ClinVar		 PMID:25741868 PMID:27080313 PMID:28281833 PMID:31577344 NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYLD CYLD lysine 63 deubiquitinase IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 OMIM
ClinVar		 PMID:10835629 PMID:19462465 PMID:23338750 PMID:24728327 PMID:25741868 More... NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G CYLD-AS2 CYLD antisense RNA 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ClinVar PMID:23338750 PMID:24728327 PMID:25741868 PMID:32185393 NCBI chr16:50,783,859...50,803,345
Ensembl chr16:50,783,859...50,803,338
Ensembl chr16:50,783,859...50,803,338 		JBrowse link
Juvenile Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: ALS, JUVENILE
ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis		 ClinVar PMID:2328408 PMID:7920663 PMID:9536098 PMID:11586297 PMID:11586298 More... NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G ERLIN1 ER lipid raft associated 1 IAGP ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033 		JBrowse link
G FUS FUS RNA binding protein IAGP ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:19251627 PMID:19450904 PMID:20579074 PMID:20606625 PMID:20668261 More... NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G LOC129935419 ATAC-STARR-seq lymphoblastoid active region 16992 IAGP ClinVar Annotator: match by term: ALS, JUVENILE ClinVar NCBI chr 2:201,780,903...201,780,972 JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 1:6,467,122...6,520,092
Ensembl chr 1:6,467,122...6,520,074 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 IAGP ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:16051700 PMID:19405049 PMID:25741868 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:26583493 PMID:26633545 PMID:28492532 PMID:31167812 More... NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
juvenile amyotrophic lateral sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2
ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2328408 PMID:7920663 PMID:9536098 PMID:11586297 PMID:11586298 More... NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G LOC129935419 ATAC-STARR-seq lymphoblastoid active region 16992 IAGP ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2 ClinVar NCBI chr 2:201,780,903...201,780,972 JBrowse link
G LOC129935420 ATAC-STARR-seq lymphoblastoid active region 16993 IAGP ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders ClinVar NCBI chr 2:201,780,983...201,781,212 JBrowse link
juvenile amyotrophic lateral sclerosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126860782 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:135144739-135145938 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:132,268,683...132,270,655 JBrowse link
G LOC126860783 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:135229958-135231157 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4 ClinVar PMID:25741868 NCBI chr 9:132,354,250...132,355,770 JBrowse link
G SETX senataxin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4
OMIM:602433
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
juvenile amyotrophic lateral sclerosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130056971 ATAC-STARR-seq lymphoblastoid silent region 6398 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:44,584,395...44,584,444 JBrowse link
G LOC130056973 ATAC-STARR-seq lymphoblastoid active region 9341 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:44,596,199...44,596,348 JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP
EXP		 ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 ClinVar PMID:28492532 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
juvenile amyotrophic lateral sclerosis type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 27, juvenile OMIM
ClinVar		 PMID:19651702 PMID:21618344 PMID:23454272 PMID:24247255 PMID:25741868 More... NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    Nutritional and Metabolic Diseases 10577
      disease of metabolism 10577
        Proteostasis Deficiencies 885
          TDP-43 Proteinopathies 460
            amyotrophic lateral sclerosis 419
              Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
              Amyotrophic Lateral Sclerosis, Autosomal Recessive 5
              Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis + 123
              Juvenile Amyotrophic Lateral Sclerosis + 17
              amyotrophic lateral sclerosis type 1 118
              amyotrophic lateral sclerosis type 10 13
              amyotrophic lateral sclerosis type 11 1
              amyotrophic lateral sclerosis type 12 4
              amyotrophic lateral sclerosis type 13 0
              amyotrophic lateral sclerosis type 15 3
              amyotrophic lateral sclerosis type 16 1
              amyotrophic lateral sclerosis type 18 1
              amyotrophic lateral sclerosis type 19 1
              amyotrophic lateral sclerosis type 20 1
              amyotrophic lateral sclerosis type 21 4
              amyotrophic lateral sclerosis type 22 1
              amyotrophic lateral sclerosis type 23 3
              amyotrophic lateral sclerosis type 24 1
              amyotrophic lateral sclerosis type 25 1
              amyotrophic lateral sclerosis type 26 1
              amyotrophic lateral sclerosis type 28 1
              amyotrophic lateral sclerosis type 3 0
              amyotrophic lateral sclerosis type 6 2
              amyotrophic lateral sclerosis type 7 0
              amyotrophic lateral sclerosis type 8 2
              amyotrophic lateral sclerosis type 9 5
              amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 2
              sporatic amyotrophic lateral sclerosis 0
Path 2
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      nervous system disease 26376
        peripheral nervous system disease 5397
          neuropathy 5142
            neuromuscular disease 4050
              motor neuron disease 632
                MOTOR NEURON ATROPHY 420
                  amyotrophic lateral sclerosis 419
                    Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
                    Amyotrophic Lateral Sclerosis, Autosomal Recessive 5
                    Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis + 123
                    Juvenile Amyotrophic Lateral Sclerosis + 17
                    amyotrophic lateral sclerosis type 1 118
                    amyotrophic lateral sclerosis type 10 13
                    amyotrophic lateral sclerosis type 11 1
                    amyotrophic lateral sclerosis type 12 4
                    amyotrophic lateral sclerosis type 13 0
                    amyotrophic lateral sclerosis type 15 3
                    amyotrophic lateral sclerosis type 16 1
                    amyotrophic lateral sclerosis type 18 1
                    amyotrophic lateral sclerosis type 19 1
                    amyotrophic lateral sclerosis type 20 1
                    amyotrophic lateral sclerosis type 21 4
                    amyotrophic lateral sclerosis type 22 1
                    amyotrophic lateral sclerosis type 23 3
                    amyotrophic lateral sclerosis type 24 1
                    amyotrophic lateral sclerosis type 25 1
                    amyotrophic lateral sclerosis type 26 1
                    amyotrophic lateral sclerosis type 28 1
                    amyotrophic lateral sclerosis type 3 0
                    amyotrophic lateral sclerosis type 6 2
                    amyotrophic lateral sclerosis type 7 0
                    amyotrophic lateral sclerosis type 8 2
                    amyotrophic lateral sclerosis type 9 5
                    amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 2
                    sporatic amyotrophic lateral sclerosis 0
paths to the root