TDP-43 Proteinopathies - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	TDP-43 Proteinopathies	go back to main search page
Accession:	DOID:9004479	browse the term
Definition:	Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.
Synonyms:	exact_synonym:	TDP-43 proteinopathy
	primary_id:	MESH:D057177

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Genes (389)

amyotrophic lateral sclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 7

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936588:460,308...477,382
Ensembl chrNW_004936588:461,389...477,229

G

actin like 6B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936543:683,301...696,485
Ensembl chrNW_004936543:683,039...696,508

G

adenosine deaminase RNA specific B1

mRNA:decreased expression:motor neuron:

PMID:20372915 PMID:22226999

RGD:10755336 RGD:13432092

NCBI chrNW_004936778:1,056,259...1,137,772
Ensembl chrNW_004936778:1,053,871...1,137,828

G

AKT serine/threonine kinase 1

protein:increased expression:skeletal muscle

NCBI chrNW_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093

G

alsin Rho guanine nucleotide exchange factor ALS2

susceptibility

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

PMID:11586297 PMID:11586298 PMID:16199547 PMID:24315819 PMID:25741868 More...

NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799

G

angiogenin

no_association

DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:17462671 PMID:25741868

NCBI chrNW_004936880:39,372...40,070

G

annexin A11

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28469040 PMID:28492532 More...

NCBI chrNW_004936521:231,294...275,138
Ensembl chrNW_004936521:228,298...275,151

G

aldehyde oxidase 1

NCBI chrNW_004936825:263,725...332,424
Ensembl chrNW_004936825:263,081...332,622

G

apolipoprotein E

severity

DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)

NCBI chrNW_004936706:1,512,438...1,516,805

G

aquaporin 4

protein:increased expression:brainstem
mRNA, protein:increased expression:spinal cord

PMID:19089902 PMID:22987392

RGD:5490153 RGD:8662893

NCBI chrNW_004936550:5,931,201...5,943,999
Ensembl chrNW_004936550:5,931,194...5,941,354

G

autophagy related 5

mRNA:increased expression:spinal cord

NCBI chrNW_004936564:2,759,085...2,885,394
Ensembl chrNW_004936564:2,758,598...2,885,420

G

antioxidant 1 copper chaperone

disease_progression

protein:increased expression:spinal chord

NCBI chrNW_004936515:10,962,315...10,982,274
Ensembl chrNW_004936515:10,962,263...10,977,232

G

ataxin 2

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936558:4,127,477...4,188,307
Ensembl chrNW_004936558:4,127,477...4,232,393

G

BCL2 associated agonist of cell death

disease_progression

NCBI chrNW_004936599:4,924,349...4,933,683
Ensembl chrNW_004936599:4,924,789...4,933,368

G

BCL2 antagonist/killer 1

treatment

NCBI chrNW_004936476:25,347,608...25,354,772
Ensembl chrNW_004936476:25,347,545...25,355,789

G

BCL2 associated X, apoptosis regulator

disease_progression
severity
treatment

PMID:10582606 PMID:20195368 PMID:20890041 PMID:21193837 PMID:24699224

RGD:13506797 RGD:13506800 RGD:13506803 RGD:13506805 RGD:13506907

NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820

G

BCL2 apoptosis regulator

disease_progression

NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921

G

BCL2 like 1

disease_progression
treatment

PMID:10582606 PMID:18543336

RGD:13506902 RGD:13506907

NCBI chrNW_004936485:18,654,046...18,707,324

G

beclin 1

mRNA:increased expression:spinal cord

NCBI chrNW_004936490:17,518,100...17,531,126
Ensembl chrNW_004936490:17,517,751...17,531,151

G

BH3 interacting domain death agonist

NCBI chrNW_004936807:708,340...750,127
Ensembl chrNW_004936807:708,276...750,093

G

BCL2 interacting protein 3 like

NCBI chrNW_004936757:499,485...523,494
Ensembl chrNW_004936757:499,147...523,541

G

bromodomain PHD finger transcription factor

mRNA,protein:increased expression:spinal cord:

NCBI chrNW_004936541:5,261,899...5,396,930
Ensembl chrNW_004936541:5,262,773...5,395,519

G

complement C3

NCBI chrNW_004936588:3,985,732...4,023,221

G

complement C5a receptor 1

NCBI chrNW_004936664:1,026,216...1,033,438
Ensembl chrNW_004936664:1,032,304...1,033,374

G

C9orf72-SMCR8 complex subunit

CTD Direct Evidence: marker/mechanism

PMID:25442110 PMID:27713094 PMID:28122516 PMID:28478440 PMID:28973294

NCBI chrNW_004936611:2,074,655...2,101,846
Ensembl chrNW_004936611:2,078,716...2,101,881

G

calcitonin related polypeptide alpha

NCBI chrNW_004936528:3,800,801...3,806,000
Ensembl chrNW_004936528:3,800,577...3,805,004

G

calcium/calmodulin dependent protein kinase IG

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936557:3,488,883...3,515,819
Ensembl chrNW_004936557:3,489,445...3,515,916

G

calpain 14

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532

NCBI chrNW_004936493:1,925,510...1,949,116
Ensembl chrNW_004936493:1,925,510...1,949,585

G

caspase 3

protein:increased activity:spinal cord

NCBI chrNW_004936554:4,571,072...4,593,765

G

caspase 9

protein:increased activity:spinal cord

NCBI chrNW_004936474:3,178,097...3,196,130

G

cyclin F

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936694:1,596,897...1,620,588
Ensembl chrNW_004936694:1,596,766...1,620,643

G

copper chaperone for superoxide dismutase

treatment

NCBI chrNW_004936599:2,992,740...3,005,230
Ensembl chrNW_004936599:2,988,025...3,005,599

G

CD40 ligand

CTD Direct Evidence: therapeutic

NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403

G

cyclin dependent kinase 5

NCBI chrNW_004936527:6,478,934...6,483,848
Ensembl chrNW_004936527:6,478,982...6,483,866

G

cilia and flagella associated protein 410

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936500:82,702...90,525
Ensembl chrNW_004936500:82,716...90,523

G

coiled-coil-helix-coiled-coil-helix domain containing 10

ClinVar Annotator: match by term: Charcot disease

PMID:25576308 PMID:25741868 PMID:28492532 PMID:29540477 PMID:30014597 More...

NCBI chrNW_004936619:1,323,247...1,325,520
Ensembl chrNW_004936619:1,323,246...1,325,522

G

charged multivesicular body protein 2B

DNA:mutations:cds:Q206H, I29V (human)
CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936610:2,282,925...2,320,554
Ensembl chrNW_004936610:2,281,066...2,321,211

G

cholinergic receptor nicotinic alpha 3 subunit

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936471:36,427,598...36,447,903
Ensembl chrNW_004936471:36,427,495...36,457,758

G

cholinergic receptor nicotinic alpha 4 subunit

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532 PMID:29454195 PMID:31628766

NCBI chrNW_004936514:10,680,893...10,695,859
Ensembl chrNW_004936514:10,680,859...10,695,865

G

cholinergic receptor nicotinic beta 4 subunit

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936471:36,408,471...36,425,571
Ensembl chrNW_004936471:36,408,447...36,426,021

G

ciliary neurotrophic factor

susceptibility

NCBI chrNW_004936581:3,710,171...3,715,753
Ensembl chrNW_004936581:3,710,160...3,715,638

G

cathepsin H

mRNA, protein:increased expression:spinal cord

NCBI chrNW_004936471:37,135,200...37,156,081
Ensembl chrNW_004936471:37,131,817...37,156,476

G

D-amino acid oxidase

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

NCBI chrNW_004936769:744,862...758,086
Ensembl chrNW_004936769:744,864...758,452

G

debranching RNA lariats 1

CTD Direct Evidence: therapeutic

NCBI chrNW_004936540:504,638...515,913
Ensembl chrNW_004936540:505,619...515,964

G

dynactin subunit 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to | ClinVar Annotator: match by term: Charcot disease

PMID:15326253 PMID:16240349 PMID:17824900 PMID:18812314 PMID:19506225 More...

NCBI chrNW_004936556:601,550...632,321
Ensembl chrNW_004936556:601,548...621,609

G

DEAD-box helicase 20

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936690:400,563...413,488
Ensembl chrNW_004936690:400,596...413,530

G

DnaJ heat shock protein family (Hsp40) member C7

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936490:16,842,901...16,878,717
Ensembl chrNW_004936490:16,842,761...16,879,186

G

DNA methyltransferase 3 alpha

protein:decreased expression:mitochondrion:

NCBI chrNW_004936493:6,963,406...7,013,256
Ensembl chrNW_004936493:6,935,386...7,007,610

G

dipeptidyl peptidase like 6

no_association

CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:rs10260404 (human)

PMID:18084291 PMID:18708572 PMID:20137488

RGD:5687181 RGD:5687188

NCBI chrNW_004936527:8,574,455...9,423,445
Ensembl chrNW_004936527:8,574,849...9,421,763

G

dynein cytoplasmic 1 heavy chain 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954

G

eukaryotic translation initiation factor 2 alpha kinase 2

protein:increased expression:spinal cord

NCBI chrNW_004936663:1,127,047...1,157,263
Ensembl chrNW_004936663:1,126,977...1,157,137

G

elongator acetyltransferase complex subunit 3

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936675:933,698...1,014,919
Ensembl chrNW_004936675:933,676...1,016,242

G

ectopic P-granules 5 autophagy tethering factor

NCBI chrNW_004936517:841,402...941,054
Ensembl chrNW_004936517:841,411...939,581

G

erythropoietin

disease_progression

protein:decreased expression:cerebrospinal fluid

NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343

G

erb-b2 receptor tyrosine kinase 4

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532 PMID:29895397

NCBI chrNW_004936586:4,065,767...5,100,690
Ensembl chrNW_004936586:4,066,498...5,100,035

G

estrogen related receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936599:4,898,534...4,922,758
Ensembl chrNW_004936599:4,897,066...4,904,886

G

EWS RNA binding protein 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936657:3,296,217...3,323,473

G

FIG4 phosphoinositide 5-phosphatase

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

PMID:2319578 PMID:7496176 PMID:9536098 PMID:17572665 PMID:17576681 More...

NCBI chrNW_004936564:5,736,908...5,842,210
Ensembl chrNW_004936564:5,736,873...5,842,722

G

FUS RNA binding protein

CTD Direct Evidence: marker/mechanism

PMID:21408206 PMID:22055719 PMID:28478440 PMID:29419416 PMID:29434138 More...

RGD:5509900 RGD:9685710

NCBI chrNW_004936501:13,529,732...13,541,102
Ensembl chrNW_004936501:13,529,803...13,540,764

G

glial cell derived neurotrophic factor

mRNA:increased expression:skeletal muscle

NCBI chrNW_004936518:4,291,391...4,310,752
Ensembl chrNW_004936518:4,288,154...4,310,753

G

glial fibrillary acidic protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936541:1,265,915...1,275,232
Ensembl chrNW_004936541:1,265,436...1,275,296

G

gap junction protein gamma 2

protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse)

NCBI chrNW_004936864:67,608...71,543
Ensembl chrNW_004936864:69,445...70,752

G

GLE1 RNA export mediator

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

PMID:25741868 PMID:28884921

NCBI chrNW_004936487:16,031,832...16,063,779
Ensembl chrNW_004936487:16,031,824...16,063,803

G

glycosyltransferase 8 domain containing 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936473:3,483,948...3,495,611
Ensembl chrNW_004936473:3,483,948...3,495,773

G

glutamic-oxaloacetic transaminase 1

treatment

human protein in a rat model

NCBI chrNW_004936636:617,376...640,424
Ensembl chrNW_004936636:617,356...640,932

G

granulin precursor

disease_progression
onset

DNA:mutations: :
protein:increased expression:spinal cord, microglia

PMID:18184915 PMID:21107132

RGD:5509593 RGD:5509619

NCBI chrNW_004936541:793,548...800,271
Ensembl chrNW_004936541:793,523...800,217

G

glycogen synthase kinase 3 alpha

NCBI chrNW_004936706:266,462...277,256
Ensembl chrNW_004936706:269,126...277,256

G

glycogen synthase kinase 3 beta

NCBI chrNW_004936536:6,730,070...6,893,818
Ensembl chrNW_004936536:6,730,062...6,894,303

G

glutathione-disulfide reductase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050

G

histone deacetylase 4

severity

NCBI chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074

G

hes family bHLH transcription factor 1

protein:increased expression:spinal chord

NCBI chrNW_004936711:640,002...642,580
Ensembl chrNW_004936711:639,905...642,622

G

hes related family bHLH transcription factor with YRPW motif 1

protein:increased expression:spinal chord

NCBI chrNW_004936871:666,961...670,910
Ensembl chrNW_004936871:666,938...670,916

G

high mobility group box 1

severity

NCBI chrNW_004936472:25,236,728...25,246,585
Ensembl chrNW_004936472:25,236,728...25,246,580

G

heterogeneous nuclear ribonucleoprotein K

protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse)

NCBI chrNW_004936828:827,660...839,088
Ensembl chrNW_004936828:828,837...838,720

G

insulin like growth factor 1 receptor

onset

mRNA:decreased expression:spinal cord (rat)

NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925

G

insulin like growth factor 2 receptor

protein:increased expression:spinal cord, astrocyte

NCBI chrNW_004936489:11,447,043...11,523,695
Ensembl chrNW_004936489:11,447,038...11,524,174

G

inter-alpha-trypsin inhibitor heavy chain 4

disease_progression

protein:increased processing:serum
protein:increased expression, increased processing:serum

NCBI chrNW_004936473:3,573,282...3,589,345
Ensembl chrNW_004936473:3,573,384...3,589,345

G

inositol 1,4,5-trisphosphate receptor type 2

susceptibility

DNA:snp:intron:g.26636386A>G rs2306677 (human)

NCBI chrNW_004936548:646,019...1,120,426
Ensembl chrNW_004936548:645,925...1,121,888

G

jagged canonical Notch ligand 1

protein:increased expression:spinal chord

NCBI chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315

G

KN motif and ankyrin repeat domains 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532

NCBI chrNW_004936503:4,125,302...4,255,880
Ensembl chrNW_004936503:4,122,204...4,246,680

G

potassium inwardly rectifying channel subfamily J member 10

protein:decreased expression:brainstem

NCBI chrNW_004936740:555,948...589,219
Ensembl chrNW_004936740:555,998...586,353

G

kinase insert domain receptor

protein:decreased expression:spinal cord

NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002

G

kelch like ECH associated protein 1

mRNA:increased expression:primary motor cortex (human)

NCBI chrNW_004936659:785,059...793,775
Ensembl chrNW_004936659:782,340...793,688

G

kinesin family member 1B

onset

mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse)
mRNA:decreased expression:precentral gyrus (human)

PMID:17418584 PMID:24904291

RGD:12738468 RGD:12738469

NCBI chrNW_004936623:4,091,093...4,222,510
Ensembl chrNW_004936623:4,091,190...4,218,251

G

kinesin family member 5A

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832

G

lipocalin 2

protein:increased expression:spinal cord

NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221

G

voltage-dependent P/Q-type calcium channel subunit alpha-1A

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638

G

DNA excision repair protein ERCC-6-like 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936487:33,082...60,819

G

leucine rich repeat kinase 2

mRNA:increased expression:skeletal muscle

NCBI chrNW_004936607:628,469...761,117
Ensembl chrNW_004936607:626,991...761,123

G

mastermind like transcriptional coactivator 1

protein:increased expression:spinal chord

NCBI chrNW_004936739:1,006,273...1,051,338
Ensembl chrNW_004936739:1,006,705...1,050,394

G

microtubule associated protein 1 light chain 3 alpha

mRNA:increased expression:spinal cord

NCBI chrNW_004936561:6,104,748...6,106,348
Ensembl chrNW_004936561:6,104,742...6,106,699

G

mitogen-activated protein kinase kinase kinase 5

protein:hyperphosphorylation:motor neuron:

NCBI chrNW_004936560:3,988,696...4,197,953
Ensembl chrNW_004936560:3,989,420...4,197,501

G

mitogen-activated protein kinase 14

protein:hyperphosphorylation:motor neuron:

NCBI chrNW_004936476:23,237,762...23,310,211
Ensembl chrNW_004936476:23,237,277...23,310,232

G

matrin 3

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936531:8,385,919...8,418,753
Ensembl chrNW_004936531:8,385,743...8,420,836

G

mitofusin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936566:3,737,315...3,775,894
Ensembl chrNW_004936566:3,737,315...3,775,693

G

mitofusin 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556

G

matrix metallopeptidase 1

protein:increased expression:serum (human)

NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857

G

matrix metallopeptidase 2

severity

protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord

PMID:19796283 PMID:20441996

RGD:13204793 RGD:7207054

NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851

G

matrix metallopeptidase 9

severity

protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord

PMID:19796283 PMID:20441996

RGD:13204793 RGD:7207054

NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793

G

myelin associated oligodendrocyte basic protein

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936473:28,663,986...28,709,394
Ensembl chrNW_004936473:28,689,242...28,697,772

G

myostatin

NCBI chrNW_004936506:7,988,879...7,996,260
Ensembl chrNW_004936506:7,988,718...7,996,971

G

metallothionein 3

PMID:12388585 PMID:12417341 PMID:17097207

RGD:6480495 RGD:6480625 RGD:6480627

NCBI chrNW_004936475:8,864,512...8,866,516
Ensembl chrNW_004936475:8,864,675...8,866,506

G

methylenetetrahydrofolate reductase

no_association
susceptibility

DNA:polymorphism: :c.677C>T(human)

PMID:21128869 PMID:21868135

RGD:11565111 RGD:11565173

NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193

G

melatonin receptor 1A

disease_progression

protein:decreased expression:spinal chord

NCBI chrNW_004936554:3,013,106...3,047,171
Ensembl chrNW_004936554:3,013,050...3,047,179

G

Mtr4 exosome RNA helicase

mRNA:increased expression:peripheral blood lymphocyte (human)

NCBI chrNW_004936480:12,357,637...12,458,728
Ensembl chrNW_004936480:12,357,637...12,458,728

G

neurofilament heavy chain

treatment

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:10686419 PMID:25741868 PMID:28492532

NCBI chrNW_004936657:3,443,406...3,453,096
Ensembl chrNW_004936657:3,443,485...3,453,133

G

neurofilament light chain

treatment
severity
disease_progression

protein:increased expression:serum (human)
protein:increased expression:serum, csf

PMID:10686419 PMID:26273687 PMID:30309882

RGD:127284877 RGD:13525000 RGD:13525006

NCBI chrNW_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697

G

neurofilament medium chain

NCBI chrNW_004936757:1,662,905...1,668,707
Ensembl chrNW_004936757:1,663,399...1,668,075

G

NIMA related kinase 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936516:1,508,800...1,666,841
Ensembl chrNW_004936516:1,508,811...1,666,869

G

NFE2 like bZIP transcription factor 2

treatment

CTD Direct Evidence: therapeutic
mRNA, protein:decreased expression:primary motor cortex, spinal cord (human)

PMID:18957896 PMID:22056419 PMID:27012417

RGD:10412690 RGD:6893397

NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262

G

nitric oxide synthase 2

protein:increased expression:spinal cord (mouse)

NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051

G

notch receptor 1

protein:increased expression:spinal chord

NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428

G

nuclear respiratory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936579:5,424,049...5,560,355
Ensembl chrNW_004936579:5,423,773...5,561,003

G

neuregulin 1

ameliorates

NCBI chrNW_004936766:1,104,841...1,306,368
Ensembl chrNW_004936766:1,104,728...1,305,972

G

optineurin

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532

NCBI chrNW_004937104:73,340...113,179

G

profilin 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532

NCBI chrNW_004936677:2,762,971...2,766,038
Ensembl chrNW_004936677:2,762,971...2,766,149

G

placental growth factor

NCBI chrNW_004936488:4,098,187...4,111,108
Ensembl chrNW_004936488:4,098,225...4,111,142

G

phospholipase A2 group IVA

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936481:3,559,377...3,689,797
Ensembl chrNW_004936481:3,559,358...3,689,833

G

patatin like phospholipase domain containing 6

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532 PMID:32579787

NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183

G

paraoxonase 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591

G

paraoxonase 2

DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2

NCBI chrNW_004936585:4,862,378...4,894,061
Ensembl chrNW_004936585:4,862,364...4,895,323

G

paraoxonase 3

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532

NCBI chrNW_004936585:4,902,430...4,928,377
Ensembl chrNW_004936585:4,902,289...4,929,556

G

PPARG coactivator 1 alpha

mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse)
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:motor cortex, muscle (human)
human gene in mouse model

PMID:22102466 PMID:22975021 PMID:23147503

RGD:6484265 RGD:7242019

NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226

G

PPARG coactivator 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936504:5,099,334...5,198,279
Ensembl chrNW_004936504:5,099,470...5,198,584

G

protein phosphatase 1 regulatory subunit 15A

protein:increased expression:spinal cord, astrocyte, microglia (mouse)

NCBI chrNW_004936664:2,910,609...2,914,205

G

peripherin

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to

PMID:15322088 PMID:15446584 PMID:25741868 PMID:28492532 PMID:32638105

NCBI chrNW_004936512:7,046,275...7,050,958
Ensembl chrNW_004936512:7,047,253...7,051,007

G

proteasome 26S subunit, ATPase 4

NCBI chrNW_004936661:2,522,665...2,528,279
Ensembl chrNW_004936661:2,522,615...2,528,284

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism
protein:increased expression:spinal cord, neuron, glia

PMID:11220737 PMID:14511332 PMID:15816863

NCBI chrNW_004936481:3,821,564...3,828,086

G

protein tyrosine phosphatase receptor type Z1

treatment

NCBI chrNW_004936605:3,195,893...3,368,102
Ensembl chrNW_004936605:3,196,548...3,368,175

G

retinoic acid receptor alpha

NCBI chrNW_004936490:15,376,217...15,420,638
Ensembl chrNW_004936490:15,376,205...15,421,611

G

ribonuclease A family member 4

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936880:41,940...42,988
Ensembl chrNW_004936880:34,289...43,209

G

sterile alpha and TIR motif containing 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936538:4,526,713...4,546,861
Ensembl chrNW_004936538:4,526,582...4,545,896

G

sec1 family domain containing 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

NCBI chrNW_004936494:5,410,219...5,501,687
Ensembl chrNW_004936494:5,410,269...5,501,498

G

serpin family F member 1

protein:increased expression:cerebrospinal fluid (human)

NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113

G

senataxin

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:18058631 PMID:23129421 PMID:23881933 PMID:25741868 PMID:26467025 More...

NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158

G

sigma non-opioid intracellular receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936524:2,717,885...2,720,874
Ensembl chrNW_004936524:2,715,769...2,721,085

G

sirtuin 1

protein:increased expression:spinal cord (mouse)

NCBI chrNW_004936521:10,296,097...10,316,673
Ensembl chrNW_004936521:10,296,097...10,322,215

G

solute carrier family 11 member 2

onset

DNA:SNP: :rs407135 (human)

NCBI chrNW_004936512:8,590,302...8,622,121
Ensembl chrNW_004936512:8,586,262...8,623,597

G

solute carrier family 1 member 2

mRNA:processing errors:spinal cord, motor cortex (human)
CTD Direct Evidence: marker/mechanism

PMID:9539131 PMID:11723166

NCBI chrNW_004936533:2,779,650...2,918,640
Ensembl chrNW_004936533:2,779,518...2,918,298

G

solute carrier family 31 member 1

disease_progression

protein:increased expression:spinal chord

NCBI chrNW_004936559:333,461...364,737
Ensembl chrNW_004936559:331,917...364,852

G

solute carrier family 6 member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936602:2,359,151...2,397,346
Ensembl chrNW_004936602:2,357,607...2,379,061

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936659:1,152,846...1,246,718
Ensembl chrNW_004936659:1,169,792...1,249,213

G

superoxide dismutase 1

treatment

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

PMID:7647793 PMID:7655469 PMID:7836951 PMID:8298637 PMID:8813280 More...

NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781

G

SPG11 vesicle trafficking associated, spatacsin

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

PMID:18337587 PMID:19466474 PMID:22696581 PMID:23733235 PMID:24833714 More...

NCBI chrNW_004936471:7,540,647...7,618,783

G

serine palmitoyltransferase long chain base subunit 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532 PMID:33879512 PMID:34059824

NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254

G

sequestosome 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

PMID:11473345 PMID:11992264 PMID:15125799 PMID:15176995 PMID:15493999 More...

NCBI chrNW_004936739:943,080...955,296
Ensembl chrNW_004936739:938,745...955,263

G

SS18L1 subunit of BAF chromatin remodeling complex

ClinVar Annotator: match by term: Charcot disease

NCBI chrNW_004936514:9,820,449...9,839,341
Ensembl chrNW_004936514:9,821,319...9,839,475

G

STEAP2 metalloreductase

disease_progression

protein:increased expression:spinal chord

NCBI chrNW_004936621:3,784,628...3,806,787
Ensembl chrNW_004936621:3,779,745...3,806,851

G

stathmin 2

NCBI chrNW_004936871:519,611...572,429
Ensembl chrNW_004936871:519,611...572,460

G

TAR DNA binding protein

disease_progression

DNA:missense mutations:cds:
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.M337V(human)
DNA:mutation:cds:p.G295S(human)
protein:increased phosphorylation:brain

PMID:17023659 PMID:18309045 PMID:18372902 PMID:21167262 PMID:21651514 More...

RGD:5687134 RGD:5687137 RGD:5687157 RGD:5687158 RGD:5687173 RGD:5687192

NCBI chrNW_004936474:90,813...103,713

G

TANK binding kinase 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

PMID:16199547 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 More...

NCBI chrNW_004936545:2,763,755...2,809,229
Ensembl chrNW_004936545:2,763,596...2,809,709

G

transcription factor A, mitochondrial

severity

NCBI chrNW_004936614:4,595,973...4,605,040
Ensembl chrNW_004936614:4,596,617...4,605,104

G

tumor necrosis factor

protein:increased expression:spinal cord

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

TNF receptor superfamily member 21

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936476:13,125,269...13,194,205
Ensembl chrNW_004936476:13,125,042...13,194,232

G

TNFAIP3 interacting protein 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936647:3,914,887...3,959,698
Ensembl chrNW_004936647:3,914,887...3,959,672

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425

G

transient receptor potential cation channel subfamily M member 7

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to

PMID:16051700 PMID:19405049 PMID:25741868

NCBI chrNW_004936471:12,564,617...12,666,229
Ensembl chrNW_004936471:12,565,054...12,665,962

G

tubulin alpha 4a

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chrNW_004936569:1,668,265...1,672,532
Ensembl chrNW_004936569:1,668,878...1,672,514

G

thioredoxin reductase 1

susceptibility

DNA:SNPs:intron:rs6539137, rs4630362 (human)

NCBI chrNW_004936492:10,185,096...10,244,466
Ensembl chrNW_004936492:10,187,206...10,225,989

G

ubiquitin B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936821:241,981...243,304

G

ubiquilin 2

ClinVar Annotator: match by term: Lou Gehrig disease

PMID:21857683 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 More...

NCBI chrNW_004936819:530,833...534,185
Ensembl chrNW_004936819:532,037...533,920

G

unc-13 homolog A

no_association

DNA:SNP:intron:rs12608932 (human)
ClinVar Annotator: match by term: Charcot disease

PMID:20385924 PMID:25741868 PMID:27790088

NCBI chrNW_004936596:3,311,358...3,370,833
Ensembl chrNW_004936596:3,312,788...3,368,916

G

VAMP associated protein B and C

DNA:missense mutation:cds:p.P56S (human)

NCBI chrNW_004936530:985,488...1,030,270
Ensembl chrNW_004936530:985,488...1,031,125

G

valosin containing protein

ClinVar Annotator: match by term: Charcot disease

PMID:15034582 PMID:18845250 PMID:20604808 PMID:22270372 PMID:22909335 More...

NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466

G

vitamin D receptor

susceptibility

DNA:SNP:intron:rs7975232(human)

NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109

G

vascular endothelial growth factor A

NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673

G

zinc finger protein 106

NCBI chrNW_004936471:5,712,655...5,779,827

amyotrophic lateral sclerosis type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP synthase peripheral stalk subunit OSCP

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,444,681...8,454,694
Ensembl chrNW_004936500:8,444,546...8,456,048

G

BCL2 like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936485:18,654,046...18,707,324

G

basigin (Ok blood group)

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936588:181,688...189,795
Ensembl chrNW_004936588:181,576...189,287

G

calbindin 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:22,344,416...22,372,015
Ensembl chrNW_004936475:22,341,822...22,372,609

G

carbonyl reductase 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:6,569,708...6,591,266
Ensembl chrNW_004936500:6,458,721...6,591,928

G

carbonyl reductase 3

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:6,461,776...6,469,063
Ensembl chrNW_004936500:6,458,721...6,591,928

G

CD68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936595:858,289...861,131

G

CD7 molecule

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936594:5,777,361...5,783,533

G

cilia and flagella associated protein 298

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,578,354...9,588,108
Ensembl chrNW_004936500:9,578,162...9,588,289

G

chromatin assembly factor 1 subunit B

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:6,262,207...6,288,833
Ensembl chrNW_004936500:6,262,229...6,288,839

G

claudin 14

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:6,207,856...6,227,582
Ensembl chrNW_004936500:6,226,618...6,227,337

G

chloride intracellular channel 6

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:7,774,962...7,816,658
Ensembl chrNW_004936500:7,774,597...7,816,702

G

clusterin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836

G

ciliary neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936581:3,710,171...3,715,753
Ensembl chrNW_004936581:3,710,160...3,715,638

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617

G

crystallin zeta like 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,678,212...8,711,687
Ensembl chrNW_004936500:8,678,850...8,711,645

G

cathepsin D

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936816:680,798...690,959
Ensembl chrNW_004936816:680,798...691,039

G

developing brain homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936654:1,139,500...1,143,477
Ensembl chrNW_004936654:1,139,500...1,143,477

G

dynactin subunit 1

susceptibility

ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More...

NCBI chrNW_004936556:601,550...632,321
Ensembl chrNW_004936556:601,548...621,609

G

DnaJ heat shock protein family (Hsp40) member C28

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,798,884...8,802,223
Ensembl chrNW_004936500:8,800,298...8,801,458

G

DNA replication fork stabilization factor DONSON

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,712,168...8,720,728
Ensembl chrNW_004936500:8,712,205...8,739,953

G

DOP1 leucine zipper like protein B

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:6,351,529...6,451,632
Ensembl chrNW_004936500:6,351,340...6,451,622

G

dual specificity tyrosine phosphorylation regulated kinase 1A

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:5,317,109...5,423,593
Ensembl chrNW_004936500:5,316,164...5,404,353

G

exosomal polycystin 1 interacting protein

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,412,507...9,429,250
Ensembl chrNW_004936500:9,427,898...9,428,617

G

eva-1 homolog C

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,621,221...9,704,793
Ensembl chrNW_004936500:9,619,904...9,702,356

G

FA complementation group G

ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant

PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More...

NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779

G

fibroblast growth factor 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936606:4,613,052...4,624,587
Ensembl chrNW_004936606:4,613,048...4,624,587

G

FIG4 phosphoinositide 5-phosphatase

ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant

NCBI chrNW_004936564:5,736,908...5,842,210
Ensembl chrNW_004936564:5,736,873...5,842,722

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122

G

FUS RNA binding protein

ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant

NCBI chrNW_004936501:13,529,732...13,541,102
Ensembl chrNW_004936501:13,529,803...13,540,764

G

gamma-aminobutyric acid type A receptor subunit alpha1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936515:1,806,721...1,859,227
Ensembl chrNW_004936515:1,805,239...1,859,600

G

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,750,928...8,782,303
Ensembl chrNW_004936500:8,753,463...8,786,236

G

gastrulation brain homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936525:1,870,211...1,873,536
Ensembl chrNW_004936525:1,870,195...1,873,539

G

GDP dissociation inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936809:1,188,793...1,194,816
Ensembl chrNW_004936809:1,188,628...1,194,863

G

glial fibrillary acidic protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936541:1,265,915...1,275,232
Ensembl chrNW_004936541:1,265,436...1,275,296

G

glutamate ionotropic receptor AMPA type subunit 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936479:7,050,018...7,323,047
Ensembl chrNW_004936479:7,050,016...7,323,196

G

GS homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936482:16,703,936...16,706,224
Ensembl chrNW_004936482:16,704,193...16,705,729

G

holocarboxylase synthetase

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:5,827,213...5,976,457
Ensembl chrNW_004936500:5,827,299...5,975,439

G

heat shock transcription factor 1

CTD Direct Evidence: therapeutic

NCBI chrNW_004936470:7,927,734...7,950,805
Ensembl chrNW_004936470:7,928,095...7,933,337

G

hormonally up-regulated Neu-associated kinase

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:10,055,548...10,155,224
Ensembl chrNW_004936500:10,055,515...10,155,208

G

interferon alpha and beta receptor subunit 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,953,809...8,975,261
Ensembl chrNW_004936500:8,953,049...8,973,978

G

interferon alpha and beta receptor subunit 2

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,060,975...9,091,618
Ensembl chrNW_004936500:9,060,182...9,091,661

G

interferon gamma receptor 2

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,881,921...8,937,355
Ensembl chrNW_004936500:8,882,435...8,901,281

G

interleukin 10 receptor subunit beta

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,033,077...9,057,465
Ensembl chrNW_004936500:9,030,809...9,057,519

G

internexin neuronal intermediate filament protein alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936600:2,747,649...2,760,517
Ensembl chrNW_004936600:2,746,772...2,760,573

G

intersectin 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,490,514...8,678,127
Ensembl chrNW_004936500:8,468,940...8,612,942

G

Janus kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048

G

potassium voltage-gated channel subfamily E regulatory subunit 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:7,998,464...8,007,848
Ensembl chrNW_004936500:8,007,291...8,007,680

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,067,009...8,072,383
Ensembl chrNW_004936500:8,068,188...8,068,553

G

potassium inwardly rectifying channel subfamily J member 6

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:5,002,668...5,164,511
Ensembl chrNW_004936500:5,065,107...5,239,854

G

kinesin family member 3C

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936493:6,396,606...6,435,266
Ensembl chrNW_004936493:6,396,276...6,435,266

G

kinesin family member 5A

mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse)

NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832

G

kinesin family member 5C

mRNA:increased expression:frontal cortex, cerebellum (mouse)

NCBI chrNW_004936469:28,282,921...28,431,638
Ensembl chrNW_004936469:28,280,095...28,431,695

G

linker for activation of T cells

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936501:11,759,245...11,764,693
Ensembl chrNW_004936501:11,760,840...11,764,397

G

low density lipoprotein receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936659:1,259,405...1,300,545
Ensembl chrNW_004936659:1,259,369...1,302,294

G

MBL associated serine protease 2

ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant

PMID:24033266 PMID:28492532

NCBI chrNW_004936474:100,584...113,781
Ensembl chrNW_004936474:101,402...114,313

G

MIS18 kinetochore protein A

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,822,366...9,832,732
Ensembl chrNW_004936500:9,822,381...9,832,561

G

MORC family CW-type zinc finger 3

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:6,293,084...6,336,091
Ensembl chrNW_004936500:6,293,093...6,336,077

G

melanocortin 2 receptor accessory protein

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,790,435...9,807,101

G

mitochondrial ribosomal protein S6

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,250,254...8,266,725
Ensembl chrNW_004936500:8,250,248...8,267,241

G

neurofilament heavy chain

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition

PMID:25741868 PMID:28492532 PMID:28749476 PMID:29411640 PMID:29650794 More...

NCBI chrNW_004936657:3,443,406...3,453,096
Ensembl chrNW_004936657:3,443,485...3,453,133

G

oligodendrocyte transcription factor 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,208,932...9,211,182
Ensembl chrNW_004936500:9,210,303...9,211,097

G

oligodendrocyte transcription factor 2

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,244,595...9,247,756
Ensembl chrNW_004936500:9,245,880...9,247,756

G

otogelin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936528:1,473,842...1,549,586
Ensembl chrNW_004936528:1,475,128...1,548,849

G

PAX3 and PAX7 binding protein 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,447,091...9,481,612
Ensembl chrNW_004936500:9,447,424...9,480,550

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936754:808,894...828,554
Ensembl chrNW_004936754:808,213...828,613

G

proenkephalin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936496:3,016,247...3,021,726
Ensembl chrNW_004936496:3,016,218...3,021,738

G

phosphatidylinositol glycan anchor biosynthesis class P

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:5,724,178...5,732,081
Ensembl chrNW_004936500:5,724,202...5,731,885

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591

G

peripherin

susceptibility

ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

NCBI chrNW_004936512:7,046,275...7,050,958
Ensembl chrNW_004936512:7,047,253...7,051,007

G

regulator of calcineurin 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:7,942,099...7,950,256
Ensembl chrNW_004936500:7,942,133...7,950,271

G

retinoid X receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936669:2,735,111...2,763,060
Ensembl chrNW_004936669:2,738,448...2,763,070

G

SR-related CTD associated factor 4

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:25741868 PMID:28492532

NCBI chrNW_004936500:10,307,868...10,342,952
Ensembl chrNW_004936500:10,307,835...10,342,588

G

selectin P ligand

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936769:531,224...540,429

G

SET domain containing 4

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:6,601,811...6,624,991
Ensembl chrNW_004936500:6,610,597...6,625,009

G

senataxin

ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158

G

SHC adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936580:4,511,560...4,522,003
Ensembl chrNW_004936580:4,512,680...4,519,715

G

SIX homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936508:7,047,563...7,051,129
Ensembl chrNW_004936508:7,047,304...7,051,732

G

solute carrier family 5 member 3

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,284,631...8,296,387

G

small integral membrane protein 11

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,055,609...8,065,351
Ensembl chrNW_004936500:8,055,588...8,066,060

G

snail family transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936514:4,456,498...4,462,436
Ensembl chrNW_004936514:4,456,484...4,462,987

G

superoxide dismutase 1

ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:1248932 PMID:1259395 PMID:1463506 PMID:2517465 PMID:7496169 More...

NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867

G

superoxide dismutase 2

OMIM:105400

NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781

G

SON DNA and RNA binding protein

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,721,155...8,752,906
Ensembl chrNW_004936500:8,722,087...8,752,844

G

synaptojanin 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,484,571...9,565,980
Ensembl chrNW_004936500:9,484,586...9,566,100

G

TAR DNA binding protein

ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant

PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More...

NCBI chrNW_004936474:90,813...103,713

G

TIAM Rac1 associated GEF 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:10,451,599...10,812,239
Ensembl chrNW_004936500:10,688,236...10,812,192

G

TLE family member 3, transcriptional corepressor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936471:29,682,313...29,730,229
Ensembl chrNW_004936471:29,682,947...29,731,031

G

transmembrane protein 50B

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:8,825,956...8,873,510
Ensembl chrNW_004936500:8,825,846...8,873,510

G

thymosin beta 4 X-linked

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936470:2,668,525...2,670,611
Ensembl chrNW_004936470:2,668,016...2,670,770

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

tetratricopeptide repeat domain 3

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:5,604,783...5,724,121

G

ubiquilin 2

ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant

PMID:19377476 PMID:22560112 PMID:23138764 PMID:25741868 PMID:26467025 More...

NCBI chrNW_004936819:530,833...534,185
Ensembl chrNW_004936819:532,037...533,920

G

unc-13 homolog A

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

NCBI chrNW_004936596:3,311,358...3,370,833
Ensembl chrNW_004936596:3,312,788...3,368,916

G

URB1 ribosome biogenesis homolog

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:9,718,981...9,790,094
Ensembl chrNW_004936500:9,718,925...9,788,666

G

VAMP associated protein B and C

ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

NCBI chrNW_004936530:985,488...1,030,270
Ensembl chrNW_004936530:985,488...1,031,125

G

valosin containing protein

ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant

PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More...

NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466

G

vascular endothelial growth factor A

OMIM:105400

NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182

G

VPS26 endosomal protein sorting factor C

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004936500:5,525,358...5,565,523
Ensembl chrNW_004936500:5,525,522...5,566,073

G

VPS54 subunit of GARP complex

OMIM:105400

NCBI chrNW_004936491:8,835,397...8,922,403
Ensembl chrNW_004936491:8,833,285...8,922,711

G

Wnt family member 7A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936898:45,903...70,313
Ensembl chrNW_004936898:45,115...70,326

G

X-linked inhibitor of apoptosis

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936479:6,677,533...6,724,800
Ensembl chrNW_004936479:6,677,526...6,722,116

amyotrophic lateral sclerosis type 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiogenin

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10

PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532

NCBI chrNW_004936880:39,372...40,070

G

erb-b2 receptor tyrosine kinase 4

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10

PMID:25741868 PMID:28492532

NCBI chrNW_004936586:4,065,767...5,100,690
Ensembl chrNW_004936586:4,066,498...5,100,035

G

granulin precursor

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10

PMID:16862116 PMID:16950801 PMID:17698705 PMID:22608501 PMID:25741868 More...

NCBI chrNW_004936541:793,548...800,271
Ensembl chrNW_004936541:793,523...800,217

G

MBL associated serine protease 2

ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA

NCBI chrNW_004936474:100,584...113,781
Ensembl chrNW_004936474:101,402...114,313

G

optineurin

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10

PMID:20428114 PMID:21802176 PMID:21852022 PMID:25741868 PMID:26203661 More...

NCBI chrNW_004937104:73,340...113,179

G

peripherin

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10

NCBI chrNW_004936512:7,046,275...7,050,958
Ensembl chrNW_004936512:7,047,253...7,051,007

G

ribonuclease A family member 4

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10

PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532

NCBI chrNW_004936880:41,940...42,988
Ensembl chrNW_004936880:34,289...43,209

G

superoxide dismutase 1

ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA

PMID:7891072 PMID:8351519 PMID:8446170 PMID:9008494 PMID:9029070 More...

NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867

G

TAR DNA binding protein

ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: TARDBP-related condition

PMID:18068872 PMID:18288693 PMID:18309045 PMID:18372902 PMID:18396105 More...

NCBI chrNW_004936474:90,813...103,713

G

tubulin alpha 4a

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10

NCBI chrNW_004936569:1,668,265...1,672,532
Ensembl chrNW_004936569:1,668,878...1,672,514

amyotrophic lateral sclerosis type 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FIG4 phosphoinositide 5-phosphatase

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11

PMID:9536098 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 More...

NCBI chrNW_004936564:5,736,908...5,842,210
Ensembl chrNW_004936564:5,736,873...5,842,722

amyotrophic lateral sclerosis type 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

optineurin

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12

PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 PMID:12939304 More...

NCBI chrNW_004937104:73,340...113,179

amyotrophic lateral sclerosis type 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ubiquilin 2

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15

PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 More...

NCBI chrNW_004936819:530,833...534,185
Ensembl chrNW_004936819:532,037...533,920

amyotrophic lateral sclerosis type 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sigma non-opioid intracellular receptor 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16

PMID:21842496 PMID:24088041 PMID:25175561 PMID:25704016 PMID:25741868 More...

NCBI chrNW_004936524:2,717,885...2,720,874
Ensembl chrNW_004936524:2,715,769...2,721,085

amyotrophic lateral sclerosis type 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

profilin 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 18 | ClinVar Annotator: match by term: PFN1-related condition

PMID:22801503 PMID:24309268 PMID:25741868 PMID:26908597 PMID:28492532 More...

NCBI chrNW_004936677:2,762,971...2,766,038
Ensembl chrNW_004936677:2,762,971...2,766,149

amyotrophic lateral sclerosis type 19

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erb-b2 receptor tyrosine kinase 4

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 | ClinVar Annotator: match by term: ERBB4-related condition

PMID:9536098 PMID:17576681 PMID:24119685 PMID:25741868 PMID:28492532 More...

NCBI chrNW_004936586:4,065,767...5,100,690
Ensembl chrNW_004936586:4,066,498...5,100,035

amyotrophic lateral sclerosis type 20

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heterogeneous nuclear ribonucleoprotein A1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20

PMID:23455423 PMID:25741868

NCBI chrNW_004936512:11,481,017...11,487,737

amyotrophic lateral sclerosis type 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrin 3

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2

PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More...

NCBI chrNW_004936531:8,385,919...8,418,753
Ensembl chrNW_004936531:8,385,743...8,420,836

amyotrophic lateral sclerosis type 22

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin alpha 4a

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22

PMID:25374358 PMID:25741868

NCBI chrNW_004936569:1,668,265...1,672,532
Ensembl chrNW_004936569:1,668,878...1,672,514

amyotrophic lateral sclerosis type 23

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A11

ClinVar Annotator: match by term: ANXA11-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23

PMID:25741868 PMID:28469040 PMID:28492532 PMID:29650794 PMID:29845112 More...

NCBI chrNW_004936521:231,294...275,138
Ensembl chrNW_004936521:228,298...275,151

amyotrophic lateral sclerosis type 24

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NIMA related kinase 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24

PMID:21211617 PMID:22499340 PMID:24033266 PMID:25741868 PMID:26945885 More...

NCBI chrNW_004936516:1,508,800...1,666,841
Ensembl chrNW_004936516:1,508,811...1,666,869

amyotrophic lateral sclerosis type 25

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 5A

susceptibility

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More...

NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832

amyotrophic lateral sclerosis type 26

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TIA1 cytotoxic granule associated RNA binding protein

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia

PMID:28492532 PMID:28817800 PMID:29216908 PMID:29886022 PMID:36112647

NCBI chrNW_004936491:14,381,107...14,411,931
Ensembl chrNW_004936491:14,380,195...14,411,868

amyotrophic lateral sclerosis type 28

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 12

NCBI chrNW_004936470:39,459,395...39,542,125
Ensembl chrNW_004936470:39,459,002...39,544,577

amyotrophic lateral sclerosis type 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FUS RNA binding protein

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6

PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 More...

NCBI chrNW_004936501:13,529,732...13,541,102
Ensembl chrNW_004936501:13,529,803...13,540,764

G

valosin containing protein

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6

NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466

amyotrophic lateral sclerosis type 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

VAMP associated protein B and C

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8

PMID:9536098 PMID:15372378 PMID:16187141 PMID:16967488 PMID:17576681 More...

NCBI chrNW_004936530:985,488...1,030,270
Ensembl chrNW_004936530:985,488...1,031,125

amyotrophic lateral sclerosis type 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiogenin

ClinVar Annotator: match by term: ANG-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9

PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 More...

NCBI chrNW_004936880:39,372...40,070

G

ribonuclease A family member 4

ClinVar Annotator: match by term: ANG-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9

PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 More...

NCBI chrNW_004936880:41,940...42,988
Ensembl chrNW_004936880:34,289...43,209

Amyotrophic Lateral Sclerosis, Autosomal Recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alsin Rho guanine nucleotide exchange factor ALS2

ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive

PMID:25741868 PMID:28492532

NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799

G

optineurin

ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive

NCBI chrNW_004937104:73,340...113,179

amyotrophic lateral sclerosis-parkinsonism/dementia complex 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Parkinsonism associated deglycase

ClinVar Annotator: match by term: Guam disease

NCBI chrNW_004936623:2,422,780...2,436,817
Ensembl chrNW_004936623:2,422,833...2,436,817

G

transient receptor potential cation channel subfamily M member 7

susceptibility
no_association

ClinVar Annotator: match by term: Guam disease
DNA:mutation:cds: p.T1482I (human)

OMIM
ClinVar
RGD

PMID:19405049 PMID:25741868 PMID:28492532

NCBI chrNW_004936471:12,564,617...12,666,229
Ensembl chrNW_004936471:12,565,054...12,665,962

frontotemporal dementia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 7

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:25741868 PMID:26101835 PMID:28097223 PMID:28400126 PMID:28789839 More...

NCBI chrNW_004936588:460,308...477,382
Ensembl chrNW_004936588:461,389...477,229

G

angiogenin

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:25741868 PMID:28492532

NCBI chrNW_004936880:39,372...40,070

G

arylsulfatase A

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:1353340 PMID:10477432 PMID:12809637 PMID:16678723 PMID:18693274 More...

NCBI chrNW_004936629:187,281...205,493
Ensembl chrNW_004936629:187,275...191,008

G

beta-secretase 2

mRNA,protein, activity:increased expression, increased activity:gyrus:

NCBI chrNW_004936500:2,362,994...2,449,783
Ensembl chrNW_004936500:2,368,334...2,449,789

G

cyclin F

ClinVar Annotator: match by term: Frontotemporal dementia

NCBI chrNW_004936694:1,596,897...1,620,588
Ensembl chrNW_004936694:1,596,766...1,620,643

G

charged multivesicular body protein 2B

no_association

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:16979267 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chrNW_004936610:2,282,925...2,320,554
Ensembl chrNW_004936610:2,281,066...2,321,211

G

cholinergic receptor nicotinic alpha 4 subunit

ClinVar Annotator: match by term: Frontotemporal dementia

NCBI chrNW_004936514:10,680,893...10,695,859
Ensembl chrNW_004936514:10,680,859...10,695,865

G

cholinergic receptor nicotinic beta 4 subunit

ClinVar Annotator: match by term: Frontotemporal dementia

NCBI chrNW_004936471:36,408,471...36,425,571
Ensembl chrNW_004936471:36,408,447...36,426,021

G

corticotropin releasing hormone receptor 1

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chrNW_004936541:2,288,847...2,333,129
Ensembl chrNW_004936541:2,288,841...2,331,689

G

colony stimulating factor 1 receptor

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:25741868 PMID:26476772 PMID:28492532 PMID:31836585

NCBI chrNW_004936504:4,898,947...4,927,195
Ensembl chrNW_004936504:4,898,945...4,928,923

G

dynactin subunit 1

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:25741868 PMID:28492532 PMID:35873773

NCBI chrNW_004936556:601,550...632,321
Ensembl chrNW_004936556:601,548...621,609

G

erb-b2 receptor tyrosine kinase 4

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:28492532 PMID:35873773

NCBI chrNW_004936586:4,065,767...5,100,690
Ensembl chrNW_004936586:4,066,498...5,100,035

G

FUS RNA binding protein

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:22863194 PMID:25382069 PMID:25558820 PMID:25741868 PMID:26467025 More...

NCBI chrNW_004936501:13,529,732...13,541,102
Ensembl chrNW_004936501:13,529,803...13,540,764

G

glycosyltransferase 8 domain containing 1

ClinVar Annotator: match by term: Frontotemporal dementia

NCBI chrNW_004936473:3,483,948...3,495,611
Ensembl chrNW_004936473:3,483,948...3,495,773

G

granulin precursor

ClinVar Annotator: match by term: Dementia, hereditary dysphasic disinhibition | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia

PMID:9536098 PMID:16199547 PMID:16862116 PMID:16950801 PMID:17030534 More...

NCBI chrNW_004936541:793,548...800,271
Ensembl chrNW_004936541:793,523...800,217

G

heterogeneous nuclear ribonucleoprotein A2/B1

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:23455423 PMID:25741868

NCBI chrNW_004936478:2,970,261...2,980,277
Ensembl chrNW_004936478:2,970,468...2,980,381

G

KAT8 regulatory NSL complex subunit 1

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chrNW_004936541:2,480,097...2,677,693
Ensembl chrNW_004936541:2,480,849...2,675,991

G

leucine rich repeat kinase 2

ClinVar Annotator: match by term: Frontotemporal dementia

NCBI chrNW_004936607:628,469...761,117
Ensembl chrNW_004936607:626,991...761,123

G

microtubule associated protein tau

no_association

DNA:haplotype
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia

RGD
OMIM
ClinVar

PMID:1416801 PMID:2273997 PMID:7783864 PMID:7936288 PMID:7977375 More...

NCBI chrNW_004936541:2,381,411...2,479,984

G

membrane associated ring-CH-type finger 4

ClinVar Annotator: match by term: Frontotemporal dementia

NCBI chrNW_004936586:923,254...1,026,340
Ensembl chrNW_004936586:925,192...1,029,578

G

MBL associated serine protease 2

ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia

PMID:24033266 PMID:28492532

NCBI chrNW_004936474:100,584...113,781
Ensembl chrNW_004936474:101,402...114,313

G

myocyte enhancer factor 2C

ClinVar Annotator: match by term: Frontotemporal dementia

NCBI chrNW_004936469:7,060,480...7,225,497
Ensembl chrNW_004936469:7,060,480...7,204,661

G

myelin associated oligodendrocyte basic protein

disease_progression

DNA:SNP: :rs1768208(human)

NCBI chrNW_004936473:28,663,986...28,709,394
Ensembl chrNW_004936473:28,689,242...28,697,772

G

neurofilament light chain

protein:increased expression:CSF (human)

NCBI chrNW_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697

G

optineurin

ClinVar Annotator: match by term: Frontotemporal dementia

NCBI chrNW_004937104:73,340...113,179

G

POU class 1 homeobox 1

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chrNW_004936610:2,262,715...2,279,098
Ensembl chrNW_004936610:2,262,715...2,279,098

G

parkin RBR E3 ubiquitin protein ligase

disease_progression

NCBI chrNW_004936489:12,118,538...12,913,664
Ensembl chrNW_004936489:12,120,678...13,327,872

G

presenilin 1

ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia

PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More...

NCBI chrNW_004936488:2,464,623...2,528,807
Ensembl chrNW_004936488:2,464,527...2,530,065

G

ribonuclease A family member 4

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:25741868 PMID:28492532

NCBI chrNW_004936880:41,940...42,988
Ensembl chrNW_004936880:34,289...43,209

G

senataxin

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:26467025 PMID:28492532

NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158

G

signal peptide peptidase like 2C

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chrNW_004936541:2,340,302...2,342,380
Ensembl chrNW_004936541:2,340,302...2,343,247

G

TAR DNA binding protein

ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia

PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More...

NCBI chrNW_004936474:90,813...103,713

G

TM2 domain containing 3

ClinVar Annotator: match by term: Frontotemporal dementia

NCBI chrNW_004936483:2,210,949...2,219,345
Ensembl chrNW_004936483:2,210,913...2,220,399

G

tyrosine kinase non receptor 1

ClinVar Annotator: match by term: Frontotemporal dementia

NCBI chrNW_004936595:667,956...674,681
Ensembl chrNW_004936595:668,315...674,136

G

triggering receptor expressed on myeloid cells 2

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:23582655 PMID:24119542 PMID:25186855 PMID:25741868 PMID:28492532 More...

NCBI chrNW_004936476:18,659,725...18,665,406
Ensembl chrNW_004936476:18,659,815...18,663,940

G

valosin containing protein

OMIM:600274

NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466

G

vacuolar protein sorting 13 homolog C

ClinVar Annotator: match by term: Frontotemporal dementia

PMID:25741868 PMID:26942284 PMID:28492532 PMID:29770609 PMID:31836585 More...

NCBI chrNW_004936471:22,661,899...22,842,144
Ensembl chrNW_004936471:22,661,447...22,842,150

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 10

ClinVar Annotator: match by term: Corticobasal syndrome

NCBI chrNW_004936471:19,760,709...19,911,759
Ensembl chrNW_004936471:19,758,118...19,911,759

G

C9orf72-SMCR8 complex subunit

ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

NCBI chrNW_004936611:2,074,655...2,101,846
Ensembl chrNW_004936611:2,078,716...2,101,881

G

tetratricopeptide repeat domain 3

ClinVar Annotator: match by term: Corticobasal syndrome

NCBI chrNW_004936500:5,604,783...5,724,121

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

ADAM metallopeptidase with thrombospondin type 1 motif 2

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:26925868 PMID:28492532

NCBI chrNW_004936739:1,394,119...1,643,422
Ensembl chrNW_004936739:1,394,119...1,641,130

G

C9orf72-SMCR8 complex subunit

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:25741868 PMID:28492532

NCBI chrNW_004936611:2,074,655...2,101,846
Ensembl chrNW_004936611:2,078,716...2,101,881

G

calnexin

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:26925868 PMID:28492532

NCBI chrNW_004936739:1,051,853...1,085,658
Ensembl chrNW_004936739:1,051,240...1,086,405

G

chibby family member 3

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:26925868 PMID:28492532

NCBI chrNW_004936739:1,100,021...1,101,995
Ensembl chrNW_004936739:1,097,780...1,101,995

G

glutamate metabotropic receptor 6

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:26925868 PMID:28492532

NCBI chrNW_004936739:1,726,382...1,742,937
Ensembl chrNW_004936739:1,727,808...1,741,400

G

heterogeneous nuclear ribonucleoprotein H1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:26925868 PMID:28492532

NCBI chrNW_004936739:1,135,282...1,144,643
Ensembl chrNW_004936739:1,135,289...1,144,643

G

leukotriene C4 synthase

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:26925868 PMID:28492532

NCBI chrNW_004936739:975,494...978,426
Ensembl chrNW_004936739:975,493...978,482

G

mastermind like transcriptional coactivator 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:26925868 PMID:28492532

NCBI chrNW_004936739:1,006,273...1,051,338
Ensembl chrNW_004936739:1,006,705...1,050,394

G

alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:26925868 PMID:28492532

NCBI chrNW_004936739:964,476...974,429
Ensembl chrNW_004936739:964,470...974,449

G

RUN and FYVE domain containing 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:26925868 PMID:28492532

NCBI chrNW_004936739:1,148,676...1,206,485
Ensembl chrNW_004936739:1,148,689...1,206,064

G

sequestosome 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:9536098 PMID:11473345 PMID:11992264 PMID:12374763 PMID:14584883 More...

NCBI chrNW_004936739:943,080...955,296
Ensembl chrNW_004936739:938,745...955,263

G

zinc finger protein 879

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

PMID:26925868 PMID:28492532

NCBI chrNW_004936739:1,665,595...1,704,963
Ensembl chrNW_004936739:1,687,832...1,703,542
Ensembl chrNW_004936739:1,687,832...1,703,542

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

coiled-coil-helix-coiled-coil-helix domain containing 10

ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2

PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 More...

NCBI chrNW_004936619:1,323,247...1,325,520
Ensembl chrNW_004936619:1,323,246...1,325,522

G

chromosome unknown C22orf15 homolog

ClinVar Annotator: match by term: FTDALS2

NCBI chrNW_004936619:1,325,521...1,328,009

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

sequestosome 1

ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3

PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15176995 More...

NCBI chrNW_004936739:943,080...955,296
Ensembl chrNW_004936739:938,745...955,263

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

kinesin family member 5A

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

PMID:25741868 PMID:28492532 PMID:32579787

NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832

G

TANK binding kinase 1

ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 More...

NCBI chrNW_004936545:2,763,755...2,809,229
Ensembl chrNW_004936545:2,763,596...2,809,709

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

aprataxin

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,569,610...1,582,103
Ensembl chrNW_004936524:1,570,627...1,576,329

G

aquaporin 3 (Gill blood group)

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,963,427...1,969,977
Ensembl chrNW_004936524:1,963,247...1,969,998

G

aquaporin 7

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,898,635...1,915,078

G

Rho guanine nucleotide exchange factor 39

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,660,364...3,663,664
Ensembl chrNW_004936524:3,660,454...3,663,696

G

AT-rich interaction domain 3C

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,705,112...2,711,557
Ensembl chrNW_004936524:2,705,121...2,711,557

G

atos homolog B

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,133,288...3,144,726
Ensembl chrNW_004936524:3,133,288...3,140,193

G

beta-1,4-galactosyltransferase 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,659,791...1,713,971
Ensembl chrNW_004936524:1,659,608...1,714,102

G

BAG cochaperone 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,793,001...1,804,145
Ensembl chrNW_004936524:1,791,119...1,804,151

G

carbonic anhydrase 9

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,672,393...3,678,630
Ensembl chrNW_004936524:3,672,541...3,678,433

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,657,094...3,659,851
Ensembl chrNW_004936524:3,657,170...3,659,821

G

calicin

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:4,143,238...4,145,183
Ensembl chrNW_004936524:4,143,347...4,145,113

G

C-C motif chemokine ligand 19

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,765,271...2,767,259
Ensembl chrNW_004936524:2,765,267...2,767,385

G

C-C motif chemokine ligand 21

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,787,963...2,789,116
Ensembl chrNW_004936524:2,788,341...2,789,016

G

C-C motif chemokine ligand 27

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,743,106...2,743,759
Ensembl chrNW_004936524:2,743,068...2,743,746

G

CD72 molecule

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,620,464...3,629,065
Ensembl chrNW_004936524:3,620,912...3,629,065

G

charged multivesicular body protein 5

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,804,643...1,820,491

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,594,530...3,597,055
Ensembl chrNW_004936524:3,594,552...3,596,371

G

clathrin light chain A

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:4,170,425...4,191,951
Ensembl chrNW_004936524:4,169,732...4,191,951

G

ciliary neurotrophic factor receptor

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,636,166...2,674,488
Ensembl chrNW_004936524:2,636,166...2,674,192

G

cAMP responsive element binding protein 3

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,727,104...3,730,962
Ensembl chrNW_004936524:3,727,098...3,730,975

G

DDB1 and CUL4 associated factor 12

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,239,972...2,272,885
Ensembl chrNW_004936524:2,238,602...2,273,349

G

dynactin subunit 3

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,696,096...2,704,162
Ensembl chrNW_004936524:2,696,053...2,704,213

G

dynein axonemal intermediate chain 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,551,431...2,614,245
Ensembl chrNW_004936524:2,572,956...2,614,026

G

DnaJ heat shock protein family (Hsp40) member A1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,599,883...1,611,302
Ensembl chrNW_004936524:1,599,913...1,610,682

G

DnaJ heat shock protein family (Hsp40) member B5

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,038,489...3,047,546
Ensembl chrNW_004936524:3,039,183...3,048,803

G

energy homeostasis associated

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,614,299...2,616,073
Ensembl chrNW_004936524:2,614,299...2,616,073

G

exosome component 3

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:5,580,855...5,586,170
Ensembl chrNW_004936524:5,581,090...5,586,128

G

family with sequence similarity 219 member A

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,494,954...2,550,992
Ensembl chrNW_004936524:2,492,634...2,551,147

G

FA complementation group G

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779

G

F-box protein 10

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:5,285,844...5,355,212
Ensembl chrNW_004936524:5,283,828...5,355,392

G

FERM and PDZ domain containing 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:5,469,495...5,557,109
Ensembl chrNW_004936524:5,469,422...5,557,117

G

galactose-1-phosphate uridylyltransferase

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,726,795...2,730,049
Ensembl chrNW_004936524:2,726,749...2,730,564

G

glucosylceramidase beta 2

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531

G

GLI pathogenesis related 2

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:4,118,964...4,139,901
Ensembl chrNW_004936524:4,118,697...4,139,942

G

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:4,184,831...4,234,257
Ensembl chrNW_004936524:4,196,830...4,252,163

G

glyoxylate and hydroxypyruvate reductase

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970

G

histidine rich carboxyl terminus 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,912,344...3,913,231
Ensembl chrNW_004936524:3,912,416...3,912,796

G

interleukin 11 receptor subunit alpha

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,732,477...2,743,044
Ensembl chrNW_004936524:2,735,507...2,742,660

G

kinesin family member 24

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,375,133...2,417,096
Ensembl chrNW_004936524:2,375,981...2,417,096

G

histidine triad nucleotide-binding protein 2, mitochondrial

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,807,426...3,816,391
Ensembl chrNW_004936524:3,807,494...3,813,535
Ensembl chrNW_004936524:3,807,494...3,813,535

G

maternal embryonic leucine zipper kinase

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:4,479,639...4,544,561
Ensembl chrNW_004936524:4,469,256...4,544,290

G

microseminoprotein, prostate associated

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,746,426...3,751,124
Ensembl chrNW_004936524:3,746,502...3,747,525

G

myogenesis regulating glycosidase (putative)

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,472,611...2,494,478
Ensembl chrNW_004936524:2,472,624...2,492,768
Ensembl chrNW_004936524:2,472,624...2,492,768

G

NADH:ubiquinone oxidoreductase subunit B6

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,231,744...1,243,783
Ensembl chrNW_004936524:1,231,852...1,243,659

G

nuclear transcription factor, X-box binding 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,824,629...1,886,726
Ensembl chrNW_004936524:1,823,813...1,886,721

G

nucleolar protein 6

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,981,832...1,997,153
Ensembl chrNW_004936524:1,982,898...1,997,054

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,779,398...3,798,074
Ensembl chrNW_004936524:3,779,392...3,798,501

G

nudix hydrolase 2

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,438,947...2,452,647
Ensembl chrNW_004936524:2,441,860...2,454,174

G

paired box 5

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:4,700,815...4,887,035
Ensembl chrNW_004936524:4,700,841...4,887,106

G

PHD finger protein 24

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,020,421...3,031,720
Ensembl chrNW_004936524:3,005,705...3,031,744

G

phosphatidylinositol glycan anchor biosynthesis class O

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,116,627...3,126,681
Ensembl chrNW_004936524:3,118,010...3,125,587

G

RNA polymerase I subunit E

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:5,265,489...5,284,231
Ensembl chrNW_004936524:5,265,441...5,288,417

G

reversion inducing cysteine rich protein with kazal motifs

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:4,021,666...4,099,703
Ensembl chrNW_004936524:4,021,660...4,099,705

G

RGP1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,742,590...3,746,371
Ensembl chrNW_004936524:3,742,596...3,750,742

G

RNA sensor RIG-I

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,141,840...1,200,638
Ensembl chrNW_004936524:1,140,971...1,200,638

G

ring finger protein 38

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:4,281,124...4,359,378
Ensembl chrNW_004936524:4,281,224...4,337,733

G

ribonuclease P/MRP subunit p25 like

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,692,179...2,694,461

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,535,122...3,594,452
Ensembl chrNW_004936524:3,535,175...3,596,077

G

sigma non-opioid intracellular receptor 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,717,885...2,720,874
Ensembl chrNW_004936524:2,715,769...2,721,085

G

signaling threshold regulating transmembrane adaptor 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,649,195...3,650,792
Ensembl chrNW_004936524:3,649,714...3,650,679

G

SMU1 DNA replication regulator and spliceosomal factor

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,615,299...1,639,133
Ensembl chrNW_004936524:1,615,129...1,639,193

G

sperm associated antigen 8

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,798,144...3,801,479
Ensembl chrNW_004936524:3,798,281...3,800,704

G

SPATA31 subfamily F member 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,804,957...2,810,940

G

SPATA31 subfamily G member 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,074,901...3,079,980
Ensembl chrNW_004936524:3,075,250...3,079,233

G

serine peptidase inhibitor Kazal type 4

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,784,805...1,789,464
Ensembl chrNW_004936524:1,785,415...1,790,954

G

stomatin like 2

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,129,149...3,132,405
Ensembl chrNW_004936524:3,129,148...3,133,056

G

testis associated actin remodelling kinase 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,615,933...3,620,384
Ensembl chrNW_004936524:3,615,927...3,621,474

G

talin 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,693,679...3,727,055
Ensembl chrNW_004936524:3,693,679...3,727,098

G

transmembrane protein 215

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,395,860...1,402,013
Ensembl chrNW_004936524:1,400,526...1,401,233

G

transmembrane protein 8B

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,816,524...3,840,959
Ensembl chrNW_004936524:3,816,490...3,843,349

G

translocase of outer mitochondrial membrane 5

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:5,371,768...5,375,443
Ensembl chrNW_004936524:5,371,775...5,375,443

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:1,219,101...1,229,937
Ensembl chrNW_004936524:1,219,907...1,229,723

G

tropomyosin 2

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308

G

tRNA methyltransferase 10B

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:5,561,622...5,579,263
Ensembl chrNW_004936524:5,561,647...5,579,230

G

ubiquitin associated protein 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,322,653...2,373,685
Ensembl chrNW_004936524:2,322,634...2,374,349

G

ubiquitin associated protein 2

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,107,263...2,210,200
Ensembl chrNW_004936524:2,107,230...2,210,225

G

ubiquitin conjugating enzyme E2 R2

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:2,005,508...2,103,878
Ensembl chrNW_004936524:2,005,590...2,103,389

G

unc-13 homolog B

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:3,320,859...3,369,865

G

valosin containing protein

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

PMID:7182974 PMID:9536098 PMID:12446676 PMID:15034582 PMID:16247064 More...

NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466

G

zinc finger and BTB domain containing 5

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:5,220,785...5,253,812
Ensembl chrNW_004936524:5,222,968...5,253,812

G

zinc finger CCHC-type containing 7

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

NCBI chrNW_004936524:4,927,956...5,154,225
Ensembl chrNW_004936524:4,927,836...5,168,337

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

charged multivesicular body protein 2B

ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 More...

NCBI chrNW_004936610:2,282,925...2,320,554
Ensembl chrNW_004936610:2,281,066...2,321,211

G

POU class 1 homeobox 1

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

NCBI chrNW_004936610:2,262,715...2,279,098
Ensembl chrNW_004936610:2,262,715...2,279,098

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

cyclin F

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5

PMID:25741868 PMID:27080313 PMID:28281833 PMID:31577344

NCBI chrNW_004936694:1,596,897...1,620,588
Ensembl chrNW_004936694:1,596,766...1,620,643

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 lysine 63 deubiquitinase

ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

PMID:10835629 PMID:19462465 PMID:23338750 PMID:24728327 PMID:25741868 More...

NCBI chrNW_004936475:3,750,917...3,812,118
Ensembl chrNW_004936475:3,750,882...3,812,118

Frontotemporal Lobar Degeneration

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

brain derived neurotrophic factor

no_association

DNA:SNP: :rs2049045 (human)
DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human)

NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014

G

C9orf72-SMCR8 complex subunit

CTD Direct Evidence: marker/mechanism

PMID:25442110 PMID:27713094

NCBI chrNW_004936611:2,074,655...2,101,846
Ensembl chrNW_004936611:2,078,716...2,101,881

G

charged multivesicular body protein 2B

no_association

CTD Direct Evidence: marker/mechanism

PMID:17956895 PMID:20412296 PMID:22366797

RGD:5688397 RGD:5688712

NCBI chrNW_004936610:2,282,925...2,320,554
Ensembl chrNW_004936610:2,281,066...2,321,211

G

FUS RNA binding protein

PMID:21408206 PMID:21847626

RGD:5509902 RGD:9685710

NCBI chrNW_004936501:13,529,732...13,541,102
Ensembl chrNW_004936501:13,529,803...13,540,764

G

granulin precursor

onset

DNA:frameshift mutation, missense mutations, nonsense mutation:exon:multiple
DNA:mutation:intron:IVS6-1G>A (human)
DNA:hypermethylation:promoter
DNA, protein:mutations, decreased expression:plasma:multiple
DNA:SNP: :rs9897526 (human)
CTD Direct Evidence: marker/mechanism

PMID:17228326 PMID:17950702 PMID:18192287 PMID:19158106 PMID:20154673 More...

RGD:10401634 RGD:10401637 RGD:10401638 RGD:10401647 RGD:10401650

NCBI chrNW_004936541:793,548...800,271
Ensembl chrNW_004936541:793,523...800,217

G

heat shock protein 90 alpha family class A member 1

protein:decreased phosphorylation:frontal cortex (human)

NCBI chrNW_004936835:316,767...321,999
Ensembl chrNW_004936835:316,767...321,990

G

neurofilament light chain

protein:increased expression:CSF (human)

NCBI chrNW_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697

G

optineurin

NCBI chrNW_004937104:73,340...113,179

G

sigma non-opioid intracellular receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936524:2,717,885...2,720,874
Ensembl chrNW_004936524:2,715,769...2,721,085

G

TAR DNA binding protein

CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.A382T (human)
protein:increased phosphorylation:brain

PMID:17023659 PMID:20660618 PMID:21667065 PMID:22177996 PMID:24019256 More...

RGD:5687136 RGD:5687158 RGD:5687159 RGD:5687172

NCBI chrNW_004936474:90,813...103,713

G

transmembrane protein 106B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936761:1,663,099...1,689,580
Ensembl chrNW_004936761:1,662,738...1,685,156

GRN-related frontotemporal lobar degeneration with TDP43 inclusions

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and SOCS box containing 16

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

NCBI chrNW_004936541:638,266...646,463
Ensembl chrNW_004936541:638,319...646,167

G

ataxin 7 like 3

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

NCBI chrNW_004936541:657,196...663,967
Ensembl chrNW_004936541:657,196...663,903

G

glucose-6-phosphatase catalytic subunit 3

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

NCBI chrNW_004936541:556,413...561,336
Ensembl chrNW_004936541:556,307...561,333

G

granulin precursor

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 More...

NCBI chrNW_004936541:793,548...800,271
Ensembl chrNW_004936541:793,523...800,217

G

histone deacetylase 5

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

NCBI chrNW_004936541:561,721...598,915
Ensembl chrNW_004936541:558,414...599,195

G

homologous recombination factor with OB-fold

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

NCBI chrNW_004936541:619,120...633,590
Ensembl chrNW_004936541:620,754...633,499

G

LSM12 homolog

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

NCBI chrNW_004936541:523,434...550,855
Ensembl chrNW_004936541:523,207...550,917

G

RUN domain containing 3A

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

NCBI chrNW_004936541:758,815...768,050
Ensembl chrNW_004936541:758,790...770,686

G

solute carrier family 25 member 39

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

NCBI chrNW_004936541:769,056...770,682
Ensembl chrNW_004936541:769,064...770,686

G

solute carrier family 4 member 1 (Diego blood group)

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876

G

transmembrane and ubiquitin like domain containing 2

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

NCBI chrNW_004936541:653,051...657,116
Ensembl chrNW_004936541:653,343...657,106

G

upstream binding transcription factor

ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

NCBI chrNW_004936541:671,178...687,485
Ensembl chrNW_004936541:671,157...684,240

inclusion body myopathy and brain white matter abnormalities

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A11

ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities

PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 More...

NCBI chrNW_004936521:231,294...275,138
Ensembl chrNW_004936521:228,298...275,151

inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

valosin containing protein

ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1

PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More...

NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466

inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heterogeneous nuclear ribonucleoprotein A2/B1

ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2

PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 More...

NCBI chrNW_004936478:2,970,261...2,980,277
Ensembl chrNW_004936478:2,970,468...2,980,381

inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heterogeneous nuclear ribonucleoprotein A1

ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3

PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868

NCBI chrNW_004936512:11,481,017...11,487,737

inclusion body myopathy with Paget disease of bone and frontotemporal dementia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

epidermal growth factor

protein:increased expression:plasma

NCBI chrNW_004936563:1,058,803...1,181,393

G

heterogeneous nuclear ribonucleoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936512:11,481,017...11,487,737

G

heterogeneous nuclear ribonucleoprotein A2/B1

DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936478:2,970,261...2,980,277
Ensembl chrNW_004936478:2,970,468...2,980,381

G

tumor necrosis factor

protein:increased expression:plasma

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

valosin containing protein

ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More...

NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466

Juvenile Amyotrophic Lateral Sclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alsin Rho guanine nucleotide exchange factor ALS2

ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis

PMID:2328408 PMID:7920663 PMID:9536098 PMID:11586297 PMID:11586298 More...

NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799

G

ER lipid raft associated 1

ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis

NCBI chrNW_004936636:80,583...116,027
Ensembl chrNW_004936636:80,564...116,694

G

FUS RNA binding protein

ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis

PMID:19251627 PMID:19450904 PMID:20579074 PMID:20606625 PMID:20668261 More...

NCBI chrNW_004936501:13,529,732...13,541,102
Ensembl chrNW_004936501:13,529,803...13,540,764

G

pleckstrin homology and RhoGEF domain containing G5

ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis

NCBI chrNW_004936623:1,255,350...1,279,310
Ensembl chrNW_004936623:1,255,096...1,279,349

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis

NCBI chrNW_004936489:4,903,176...5,177,987

G

transient receptor potential cation channel subfamily M member 7

ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis

PMID:16051700 PMID:19405049 PMID:25741868

NCBI chrNW_004936471:12,564,617...12,666,229
Ensembl chrNW_004936471:12,565,054...12,665,962

G

VRK serine/threonine kinase 1

ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis

PMID:25741868 PMID:26583493 PMID:26633545 PMID:28492532 PMID:31167812 More...

NCBI chrNW_004936604:1,011,048...1,097,388
Ensembl chrNW_004936604:1,011,052...1,097,403

juvenile amyotrophic lateral sclerosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alsin Rho guanine nucleotide exchange factor ALS2

ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2

PMID:2328408 PMID:7920663 PMID:9536098 PMID:11586297 PMID:11586298 More...

NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799

juvenile amyotrophic lateral sclerosis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

senataxin

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4

PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More...

NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158

juvenile amyotrophic lateral sclerosis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SPG11 vesicle trafficking associated, spatacsin

ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5

PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More...

NCBI chrNW_004936471:7,540,647...7,618,783

G

transient receptor potential cation channel subfamily V member 4

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5

NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516

juvenile amyotrophic lateral sclerosis type 27

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine palmitoyltransferase long chain base subunit 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 27, juvenile

PMID:19651702 PMID:21618344 PMID:23454272 PMID:24247255 PMID:25741868 More...

NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254

Pick's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activating transcription factor 2

NCBI chrNW_004936509:4,729,984...4,826,367
Ensembl chrNW_004936509:4,732,930...4,826,443

G

cAMP responsive element binding protein 1

protein:decreased expression:frontal cortex

PMID:16496165 PMID:17548164

RGD:10047401 RGD:10047402

NCBI chrNW_004936631:3,721,307...3,785,346
Ensembl chrNW_004936631:3,721,313...3,780,892

G

Fos proto-oncogene, AP-1 transcription factor subunit

protein:decreased expression:frontal cortex

NCBI chrNW_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122

G

histamine N-methyltransferase

NCBI chrNW_004936469:38,125,877...38,166,429
Ensembl chrNW_004936469:38,122,454...38,166,398

G

microtubule associated protein tau

ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease

PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More...

NCBI chrNW_004936541:2,381,411...2,479,984

G

presenilin 1

ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease

PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More...

NCBI chrNW_004936488:2,464,623...2,528,807
Ensembl chrNW_004936488:2,464,527...2,530,065

G

synuclein alpha

protein:increased expression:dentate gyrus

NCBI chrNW_004936685:2,077,017...2,175,298
Ensembl chrNW_004936685:2,076,651...2,175,338

G

synuclein beta

protein:increased expression:dentate gyrus

NCBI chrNW_004936597:878,270...888,346
Ensembl chrNW_004936597:878,286...888,331

G

TAR DNA binding protein

NCBI chrNW_004936474:90,813...103,713

primary progressive aphasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

granulin precursor

ClinVar Annotator: match by term: Primary progressive aphasia

PMID:6497355 PMID:12794388 PMID:16862116 PMID:16950801 PMID:17202431 More...

NCBI chrNW_004936541:793,548...800,271
Ensembl chrNW_004936541:793,523...800,217

G

prion protein (Kanno blood group)

ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to

PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More...

NCBI chrNW_004936485:14,104,829...14,118,614
Ensembl chrNW_004936485:14,104,831...14,118,629

progressive non-fluent aphasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TANK binding kinase 1

ClinVar Annotator: match by term: Primary progressive non fluent aphasia

NCBI chrNW_004936545:2,763,755...2,809,229
Ensembl chrNW_004936545:2,763,596...2,809,709

Term paths to the root

Path 1
Term	Annotations
disease	16465
disease of anatomical entity	14117
nervous system disease	12341
neurodegenerative disease	4479
TDP-43 Proteinopathies	389
Frontotemporal Lobar Degeneration +	163
amyotrophic lateral sclerosis +	352
Path 2
Term	Annotations
disease	16465
disease of anatomical entity	14117
nervous system disease	12341
central nervous system disease	11056
neurodegenerative disease	4479
TDP-43 Proteinopathies	389
Frontotemporal Lobar Degeneration +	163
amyotrophic lateral sclerosis +	352

paths to the root