motor neuron disease - 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:	motor neuron disease	go back to main search page
Accession:	DOID:231	browse the term
Definition:	A neurodegenerative disease that is located_in the motor neurons. (DO)
Synonyms:	exact_synonym:	Lower Motor Neuron Disease; Motor System Disease; Motor System Diseases; familial motor neuron disease; motor neuron diseases; secondary motor neuron disease; upper motor neuron disease
	narrow_synonym:	MADRAS MOTOR NEURON DISEASE
	primary_id:	MESH:D016472
	xref:	EFO:0003782; ICD9CM:335.2
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (548) Mouse (549) Human (17432) Chinchilla (500) Bonobo (533) Dog (533) Squirrel (509) Pig (532) Green Monkey (522) Naked Mole-rat (502) All
Genes (544) Strains (4)

motor neuron disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

allograft inflammatory factor 1

protein:increased expression:cervical spinal cord (rat)

RGD

NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668

G

glycyl-tRNA synthetase 1

ClinVar Annotator: match by term: Motor neuron disease

NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion: :

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

HtrA serine peptidase 2

treatment

RGD

PMID:22976834 PMID:22976834

RGD:10402865, RGD:10402865

NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095

G

myelin protein zero

ClinVar Annotator: match by term: Motor neuron disease

NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679

G

metallothionein 3

RGD

NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158

G

NIMA-related kinase 1

ClinVar Annotator: match by term: Motor neuron disease

PMID:16199547 PMID:22499340 PMID:25741868 PMID:27455347 PMID:28089114 More...

NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723

G

nitric oxide synthase 1

protein:decreased expression;motor neuron

RGD

NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945

G

optineurin

ClinVar Annotator: match by term: Motor neuron disease

PMID:21613650 PMID:23138764 PMID:23447461 PMID:25382069 PMID:26467025 More...

NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251

G

Parkinsonism associated deglycase

ClinVar Annotator: match by term: Motor neuron disease

NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970

G

patatin-like phospholipase domain containing 6

CTD Direct Evidence: marker/mechanism

PMID:18313024 PMID:20603202

NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734

G

peroxiredoxin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111

G

ras homolog family member T1

NCBI chr10:65,198,700...65,262,807
Ensembl chr10:65,170,560...65,262,804

G

solute carrier family 52 member 3

ClinVar Annotator: match by term: Madras motor neuron disease

PMID:25741868 PMID:28492532 PMID:32579787

NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Motor neuron disease
human transgene in rat model

CTD
ClinVar
RGD

PMID:1259395 PMID:2517465 PMID:7635196 PMID:7673954 PMID:7997024 More...

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

TAR DNA binding protein

DNA:missense mutation:cds:p.A315T(human)
ClinVar Annotator: match by term: Motor neuron disease

PMID:18372902 PMID:18931000 PMID:19224587 PMID:19760257 PMID:23881933 More...

NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055

G

TANK-binding kinase 1

ClinVar Annotator: match by term: Motor neuron disease

PMID:21447600 PMID:25700176 PMID:25803835 PMID:26476236 PMID:26581300 More...

NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

adult spinal muscular atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

survival of motor neuron 1, telomeric

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinal muscular atrophy, type IV

OMIM
CTD
ClinVar

PMID:9536098 PMID:17576681 PMID:21542063 PMID:24844453 PMID:25741868 More...

NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060

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 chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425

G

actin-like 6B

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,124,887...19,141,419
Ensembl chr12:19,124,916...19,141,376

G

adenosine deaminase, RNA-specific, B1

mRNA:decreased expression:motor neuron:

PMID:20372915 PMID:22226999

RGD:10755336, RGD:13432092

NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852

G

AKT serine/threonine kinase 1

protein:increased expression:skeletal muscle

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

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:11586298 PMID:16199547 PMID:24315819 PMID:25741868 PMID:28492532 More...

NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737

G

angiogenin

no_association

DNA:mutations:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:missense mutations
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
protein:increased expression:cerebrospinal fluid

PMID:25741868 PMID:22190368 PMID:16501576 PMID:17462671 PMID:19177252

RGD:6892707, RGD:6892718, RGD:6892716, RGD:6892713

NCBI chr15:24,312,711...24,323,361

G

annexin A11

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

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

NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797

G

aldehyde oxidase 1

RGD

NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770

G

apolipoprotein E

severity

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

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

aquaporin 4

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

RGD

PMID:19089902 PMID:22987392

RGD:5490153, RGD:8662893

NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856

G

autophagy related 5

mRNA:increased expression:spinal cord

RGD

NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209

G

antioxidant 1 copper chaperone

disease_progression

protein:increased expression:spinal chord

RGD

NCBI chr10:39,564,855...39,579,892
Ensembl chr10:39,564,857...39,579,950

G

ataxin 2

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism

PMID:25741868 PMID:27377857 PMID:28478440

NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479

G

BCL2-associated agonist of cell death

disease_progression

RGD

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

G

BCL2-antagonist/killer 1

treatment

RGD

NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264

G

BCL2 associated X, apoptosis regulator

treatment
disease_progression
severity

RGD

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

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

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

disease_progression

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Bcl2-like 1

treatment
disease_progression

RGD

PMID:18543336 PMID:10582606

RGD:13506902, RGD:13506907

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479

G

beclin 1

mRNA:increased expression:spinal cord

RGD

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

G

BH3 interacting domain death agonist

RGD

NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720

G

BCL2 interacting protein 3 like

RGD

NCBI chr15:41,174,594...41,197,730
Ensembl chr15:41,174,594...41,197,803

G

bromodomain PHD finger transcription factor

mRNA,protein:increased expression:spinal cord:

RGD

NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769

G

complement C3

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C5a receptor 1

RGD

NCBI chr 1:76,948,622...76,959,826

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225

G

calcitonin-related polypeptide alpha

RGD

NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105

G

calcium/calmodulin-dependent protein kinase IG

CTD Direct Evidence: marker/mechanism

NCBI chr13:104,877,909...104,901,658
Ensembl chr13:104,877,910...104,901,556

G

caspase 12

protein:increased activity:spinal cord

RGD

NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037

G

caspase 3

protein:increased activity:spinal cord

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

caspase 9

protein:increased activity:spinal cord

RGD

NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626

G

cyclin F

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101

G

C-C motif chemokine receptor 2

disease_progression

protein:increased expression:plasma:
protein:decreased expression:monocyte:

RGD

PMID:16857270 PMID:16857270

RGD:8657363, RGD:8657363

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

copper chaperone for superoxide dismutase

treatment

RGD

NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915

G

CD40 ligand

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:20348957 PMID:20348957

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cyclin-dependent kinase 5

RGD

NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112

G

cilia and flagella associated protein 410

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:27455348

NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737

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 chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763

G

charged multivesicular body protein 2B

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

CTD
RGD

PMID:16807408 PMID:16807408

NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181

G

cholinergic receptor nicotinic alpha 3 subunit

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165

G

cholinergic receptor nicotinic alpha 4 subunit

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532 PMID:29454195 PMID:31628766 PMID:32579787

NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957

G

cholinergic receptor nicotinic beta 4 subunit

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027

G

ciliary neurotrophic factor

susceptibility

RGD

NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877

G

cathepsin H

mRNA, protein:increased expression:spinal cord

RGD

NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824

G

D-amino-acid oxidase

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

NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741

G

debranching RNA lariats 1

CTD Direct Evidence: therapeutic

NCBI chr 8:100,139,039...100,150,768
Ensembl chr 8:100,139,034...100,151,030

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:16199547 PMID:16240349 PMID:17824900 PMID:18812314 More...

NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815

G

DEAD-box helicase 20

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr 2:193,158,761...193,168,484
Ensembl chr 2:193,158,823...193,166,774

G

DnaJ heat shock protein family (Hsp40) member C7

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr10:85,518,637...85,555,079
Ensembl chr10:85,518,621...85,555,575

G

DNA methyltransferase 3 alpha

protein:decreased expression:mitochondrion:

RGD

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

dipeptidyl peptidase like 6

no_association

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

CTD
RGD

PMID:18084291 PMID:18708572 PMID:20137488

RGD:5687188, RGD:5687181

NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532

G

dynein cytoplasmic 1 heavy chain 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883

G

eukaryotic translation initiation factor 2-alpha kinase 2

protein:increased expression:spinal cord

RGD

NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971

G

elongator acetyltransferase complex subunit 3

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr15:39,754,635...39,816,482
Ensembl chr15:39,754,632...39,816,445

G

ectopic P-granules 5 autophagy tethering factor

NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502

G

erythropoietin

disease_progression

protein:decreased expression:cerebrospinal fluid

RGD

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

erb-b2 receptor tyrosine kinase 4

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

PMID:25741868 PMID:28492532 PMID:29895397 PMID:32065797

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

ERCC excision repair 6 like 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275

G

estrogen related receptor, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268

G

EWS RNA-binding protein 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544

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 chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844

G

Fus RNA binding protein

ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:20138404 PMID:22863194 PMID:25382069 PMID:25558820 PMID:25741868 More...

RGD:5509900, RGD:9685710

NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414

G

glial cell derived neurotrophic factor

mRNA:increased expression:skeletal muscle

RGD

NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209

G

glial fibrillary acidic protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589

G

gap junction protein, gamma 2

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

RGD

NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467

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 chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379

G

glycosyltransferase 8 domain containing 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229

G

glutamic-oxaloacetic transaminase 1

treatment

human protein in a rat model

RGD

NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633

G

granulin precursor

disease_progression
onset

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

RGD

PMID:21107132 PMID:18184915 PMID:21107132

RGD:5509593, RGD:5509619, RGD:5509593

NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775

G

glycogen synthase kinase 3 alpha

RGD

NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802

G

glycogen synthase kinase 3 beta

RGD

NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646

G

glutathione-disulfide reductase

CTD Direct Evidence: marker/mechanism

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

histone deacetylase 4

severity

RGD

NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164

G

hes family bHLH transcription factor 1

protein:increased expression:spinal chord

RGD

NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192

G

hes-related family bHLH transcription factor with YRPW motif 1

protein:increased expression:spinal chord

RGD

NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312

G

high mobility group box 1

severity

RGD

NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

G

heterogeneous nuclear ribonucleoprotein K

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

RGD

NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997

G

harakiri, BCL2 interacting protein

RGD

NCBI chr12:38,387,484...38,409,652

G

insulin-like growth factor 1 receptor

onset

mRNA:decreased expression:spinal cord (rat)

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor 2 receptor

protein:increased expression:spinal cord, astrocyte

RGD

NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501

G

inter-alpha-trypsin inhibitor heavy chain 4

disease_progression

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

RGD

PMID:23436019 PMID:23436019

RGD:40907060, RGD:40907060

NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708

G

inositol 1,4,5-trisphosphate receptor, type 2

susceptibility

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

RGD

NCBI chr 4:179,028,594...179,434,657
Ensembl chr 4:179,027,281...179,404,164

G

jagged canonical Notch ligand 1

protein:increased expression:spinal chord

RGD

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

KN motif and ankyrin repeat domains 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532

NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514

G

potassium inwardly-rectifying channel, subfamily J, member 10

protein:decreased expression:brainstem

RGD

NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461

G

kinase insert domain receptor

protein:decreased expression:spinal cord

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

Kelch-like ECH-associated protein 1

mRNA:increased expression:primary motor cortex (human)

RGD

NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862

G

kinesin family member 1B

onset

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

RGD

PMID:17418584 PMID:24904291

RGD:12738468, RGD:12738469

NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778

G

kinesin family member 5A

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

PMID:25741868 PMID:26467025 PMID:28492532 PMID:31108397

NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858

G

lipocalin 2

protein:increased expression:spinal cord

RGD

NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095

G

leucine-rich repeat kinase 2

mRNA:increased expression:skeletal muscle

RGD

NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703

G

mastermind-like transcriptional coactivator 1

protein:increased expression:spinal chord

RGD

NCBI chr10:34,588,639...34,623,024
Ensembl chr10:34,588,646...34,623,338

G

microtubule-associated protein 1 light chain 3 alpha

mRNA:increased expression:spinal cord

RGD

NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670

G

mitogen-activated protein kinase kinase kinase 5

protein:hyperphosphorylation:motor neuron:

RGD

NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800

G

mitogen activated protein kinase 14

protein:hyperphosphorylation:motor neuron:

RGD

NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589

G

matrin 3

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532

NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166

G

mitofusin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640

G

mitofusin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342

G

microRNA 206

CTD Direct Evidence: marker/mechanism

PMID:22975021 PMID:27538595

NCBI chr 9:23,094,249...23,094,332
Ensembl chr 9:23,094,249...23,094,332

G

microRNA 214

CTD Direct Evidence: marker/mechanism

NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481

G

microRNA 23a

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071

G

microRNA 322

CTD Direct Evidence: marker/mechanism

NCBI chr X:132,806,594...132,806,688
Ensembl chr X:132,806,594...132,806,688

G

microRNA 455

CTD Direct Evidence: marker/mechanism

NCBI chr 5:76,689,313...76,689,390
Ensembl chr 5:76,689,313...76,689,390

G

matrix metallopeptidase 1

protein:increased expression:serum (human)

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 2

severity

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

RGD

PMID:19796283 PMID:20441996

RGD:7207054, RGD:13204793

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

severity

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

RGD

PMID:19796283 PMID:20441996

RGD:7207054, RGD:13204793

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

myelin-associated oligodendrocyte basic protein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:27455348

NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563

G

myostatin

RGD

NCBI chr 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933

G

metallothionein 1

mRNA:increased expression:spinal cord (mouse)

RGD

NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
Ensembl chr X:10,826,032...10,827,049

G

metallothionein 2A

onset

mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse)

RGD

NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784

G

metallothionein 3

RGD

PMID:17097207 PMID:12388585 PMID:12417341

RGD:6480495, RGD:6480627, RGD:6480625

NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158

G

methylenetetrahydrofolate reductase

susceptibility
no_association

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

RGD

PMID:21128869 PMID:21868135

RGD:11565111, RGD:11565173

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

melatonin receptor 1A

disease_progression

protein:decreased expression:spinal chord

RGD

NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919

G

Mtr4 exosome RNA helicase

mRNA:increased expression:peripheral blood lymphocyte (human)

RGD

NCBI chr 2:44,500,326...44,560,624
Ensembl chr 2:44,461,444...44,560,627

G

neurofilament heavy chain

treatment

DNA:deletions:cds:multiple (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

PMID:25741868 PMID:28492532 PMID:9931323 PMID:10686419

RGD:1302518, RGD:13525000

NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351

G

neurofilament light chain

treatment
severity
disease_progression

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

RGD

PMID:10686419 PMID:30309882 PMID:26273687

RGD:13525000, RGD:127284877, RGD:13525006

NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793

G

neurofilament medium chain

RGD

NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755

G

NIMA-related kinase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:26945885 PMID:27455347

NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723

G

NFE2 like bZIP transcription factor 2

treatment

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

CTD
RGD

PMID:27012417 PMID:18957896 PMID:22056419

RGD:6893397, RGD:10412690

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nitric oxide synthase 2

protein:increased expression:spinal cord (mouse)

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

notch receptor 1

protein:increased expression:spinal chord

RGD

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

nuclear respiratory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328

G

neuregulin 1

ameliorates

RGD

NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884

G

optineurin

protein:increased expression:spinal cord, neuron
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)
DNA:missense mutations, nonsense mutation:cds, intron:multiple

ClinVar
CTD
RGD

PMID:9536098 PMID:17576681 PMID:21059646 PMID:25096716 PMID:25741868 More...

RGD:6480502, RGD:6480506, RGD:6480504

NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251

G

profilin 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532

NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631

G

placental growth factor

RGD

NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685

G

phospholipase A2 group 4A

CTD Direct Evidence: marker/mechanism

NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266

G

patatin-like phospholipase domain containing 6

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532 PMID:32579787

NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28070599

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

paraoxonase 2

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

RGD

NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248

G

paraoxonase 3

DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28492532 PMID:16822964

NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855

G

PPARG coactivator 1 alpha

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

CTD
RGD

PMID:22975021 PMID:22102466 PMID:23147503 PMID:23147503

RGD:6484265, RGD:7242019, RGD:7242019

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

PPARG coactivator 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194

G

protein phosphatase 1, regulatory subunit 15A

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

RGD

NCBI chr 1:96,000,053...96,003,128
Ensembl chr 1:96,000,058...96,003,171

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 chr 7:130,218,149...130,222,136
Ensembl chr 7:130,218,357...130,222,136

G

proteasome 26S subunit, ATPase 4

NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494

G

prostaglandin-endoperoxide synthase 2

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

CTD
RGD

PMID:11220737 PMID:15816863 PMID:14511332

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

protein tyrosine phosphatase, receptor type Z1

treatment

RGD

NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218

G

retinoic acid receptor, alpha

RGD

NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142

G

similar to RIKEN cDNA 3110043O21

CTD Direct Evidence: marker/mechanism

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

NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408

G

ribonuclease A family member 4

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117

G

RUNX family transcription factor 1

mRNA:increased expression:skeletal muscle

RGD

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

sterile alpha and TIR motif containing 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr10:63,369,456...63,393,016
Ensembl chr10:63,369,456...63,392,822

G

sec1 family domain containing 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease

PMID:25741868 PMID:27455348

NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078

G

serpin family F member 1

protein:increased expression:cerebrospinal fluid (human)

RGD

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

senataxin

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

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

NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803

G

sigma non-opioid intracellular receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017

G

sirtuin 1

protein:increased expression:spinal cord (mouse)

RGD

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

solute carrier family 11 member 2

onset

DNA:SNP: :rs407135 (human)

RGD

NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145

G

solute carrier family 1 member 2

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

CTD
RGD

PMID:11723166 PMID:9539131

NCBI chr 3:89,005,129...89,135,469
Ensembl chr 3:89,005,129...89,126,498

G

solute carrier family 31 member 1

disease_progression

protein:increased expression:spinal chord

RGD

NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228

G

solute carrier family 6 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975

G

superoxide dismutase 1

treatment

human gene in a rat model;DNA:missense mutation:cds:p.G93A (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism
protein:increased expression:cerebrospinal fluid (human)

ClinVar
CTD
RGD

PMID:7647793 PMID:7655469 PMID:7836951 PMID:7887412 PMID:8298637 More...

RGD:2312367, RGD:13524551, RGD:8655880

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

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 chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911

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 chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295

G

sequestosome 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
mRNA:increased expression:spinal cord

CTD
ClinVar
RGD

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

NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673

G

SS18L1 subunit of BAF chromatin remodeling complex

ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism

PMID:25741868 PMID:28973294

NCBI chr 3:167,143,730...167,165,253
Ensembl chr 3:167,143,994...167,165,253

G

STEAP2 metalloreductase

disease_progression

protein:increased expression:spinal chord

RGD

NCBI chr 4:28,347,769...28,368,177
Ensembl chr 4:28,348,362...28,375,791

G

stathmin 2

NCBI chr 2:93,204,690...93,252,011
Ensembl chr 2:93,204,692...93,252,011

G

TAR DNA binding protein

disease_progression

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

CTD
RGD

PMID:18372902 PMID:21167262 PMID:22879928 PMID:23104007 PMID:23891805 More...

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

NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055

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 chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892

G

transcription factor A, mitochondrial

severity

RGD

NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292

G

tumor necrosis factor

protein:increased expression:spinal cord

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 21

CTD Direct Evidence: marker/mechanism

NCBI chr 9:17,879,156...17,954,085
Ensembl chr 9:17,879,156...17,954,085

G

TNFAIP3 interacting protein 1

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

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 chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190

G

tubulin, alpha 4A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis

PMID:25741868 PMID:28478440

NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918

G

thioredoxin reductase 1

susceptibility

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

RGD

NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863

G

ubiquitin B

CTD Direct Evidence: marker/mechanism

NCBI chr10:47,247,630...47,249,335
Ensembl chr10:47,245,637...47,249,333

G

ubiquilin 2

ClinVar Annotator: match by term: Lou Gehrig disease

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

NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505

G

unc-13 homolog A

no_association

DNA:SNP:intron:rs12608932 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:19734901 PMID:25741868 PMID:27790088 PMID:20385924 PMID:19734901

RGD:5686382, RGD:5686384

NCBI chr16:18,333,910...18,381,813
Ensembl chr16:18,336,229...18,381,872

G

VAMP associated protein B and C

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

RGD

NCBI chr 3:162,535,974...162,578,747
Ensembl chr 3:162,535,905...162,573,763

G

valosin-containing protein

ClinVar Annotator: match by term: Charcot disease

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

NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

G

vitamin D receptor

susceptibility

DNA:SNP:intron:rs7975232(human)

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

vascular endothelial growth factor A

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

zinc finger protein 106

NCBI chr 3:107,459,232...107,510,507
Ensembl chr 3:107,462,096...107,510,481

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 chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592

G

Bcl2-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479

G

basigin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387

G

calbindin 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438

G

caspase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383

G

carbonyl reductase 1

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393

G

carbonyl reductase 3

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875

G

Cd68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697

G

Cd7 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr10:106,304,046...106,306,963
Ensembl chr10:106,304,056...106,306,967

G

cilia and flagella associated protein 298

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346

G

chromatin assembly factor 1 subunit B

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070

G

claudin 14

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171

G

chloride intracellular channel 6

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061

G

clusterin

CTD Direct Evidence: marker/mechanism

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

ciliary neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

crystallin zeta like 1

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867

G

cystatin C

CTD Direct Evidence: marker/mechanism

NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822

G

cathepsin D

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488

G

developing brain homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:99,348,638...99,354,173
Ensembl chr 1:99,349,608...99,354,038

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
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

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

NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815

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 chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441

G

DNA replication fork stabilization factor DONSON

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889

G

DOP1 leucine zipper like protein B

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931

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 chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420

G

exosomal polycystin 1 interacting protein

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439

G

eva-1 homolog C

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596

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 chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029

G

fibroblast growth factor 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447

G

FIG4 phosphoinositide 5-phosphatase

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

NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844

G

flavin containing dimethylaniline monoxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:75,182,184...75,214,439
Ensembl chr13:75,182,176...75,214,647

G

folate hydrolase 1

treatment

RGD

NCBI chr 1:140,428,101...140,501,563
Ensembl chr 1:140,428,101...140,501,379

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

Fus RNA binding protein

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

NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414

G

gamma-aminobutyric acid type A receptor subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864

G

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125

G

gastrulation brain homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:90,509,633...90,512,212
Ensembl chr 9:90,509,633...90,512,212

G

GDP dissociation inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272

G

glial fibrillary acidic protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589

G

glutamate ionotropic receptor AMPA type subunit 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096

G

GS homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:33,123,799...33,126,151
Ensembl chr14:33,124,381...33,126,105

G

holocarboxylase synthetase

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222

G

heat shock transcription factor 1

CTD Direct Evidence: therapeutic

NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011

G

hormonally upregulated Neu-associated kinase

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,641,122...29,758,392
Ensembl chr11:29,640,775...29,757,526

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 chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979

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 chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124

G

interferon gamma receptor 2

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005

G

interleukin 10 receptor subunit beta

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074

G

internexin neuronal intermediate filament protein, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330

G

intersectin 1

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645

G

Janus kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

JunD proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799

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 chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901

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 chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043

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 chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758

G

kinesin family member 3C

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130

G

kinesin family member 5A

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

RGD

NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858

G

kinesin family member 5C

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

RGD

NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413

G

linker for activation of T cells

CTD Direct Evidence: marker/mechanism

NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578

G

low density lipoprotein receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

MBL associated serine protease 2

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580

G

MIS18 kinetochore protein A

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062

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 chr11:33,151,906...33,194,650
Ensembl chr11:33,152,025...33,194,646

G

melanocortin 2 receptor accessory protein

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024

G

mitochondrial ribosomal protein S6

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484

G

metallothionein 1

CTD Direct Evidence: therapeutic

NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
Ensembl chr X:10,826,032...10,827,049

G

neurofilament heavy chain

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition

CTD
OMIM
ClinVar

PMID:7849698 PMID:25741868 PMID:28430856 PMID:28492532 PMID:28749476 More...

NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351

G

oligodendrocyte transcription factor 1

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521

G

oligodendrocyte transcription factor 2

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152

G

otogelin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415

G

PAX3 and PAX7 binding protein 1

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497

G

proenkephalin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129

G

phosphatidylinositol glycan anchor biosynthesis, class P

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

peripherin

susceptibility

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: PRPH-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 7:130,218,149...130,222,136
Ensembl chr 7:130,218,357...130,222,136

G

regulator of calcineurin 1

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045

G

ripply transcriptional repressor 3

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,648,471...33,656,587
Ensembl chr11:33,648,486...33,656,584

G

RUNX family transcription factor 1

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

retinoid X receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712

G

SR-related CTD-associated factor 4

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

PMID:9455977 PMID:9506558 PMID:16435343 PMID:17237124 PMID:19635794 More...

NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153

G

selectin P ligand

CTD Direct Evidence: marker/mechanism

NCBI chr12:42,796,690...42,809,908
Ensembl chr12:42,796,580...42,812,585

G

serpin family A member 3N

CTD Direct Evidence: marker/mechanism

NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433

G

SET domain containing 4

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243

G

senataxin

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

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803

G

SHC adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536

G

SIM bHLH transcription factor 2

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663

G

SIX homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193

G

solute carrier family 5 member 3

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883

G

small integral membrane protein 11

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002

G

snail family transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969

G

synuclein, gamma

OMIM:105400

NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368

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
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition
OMIM:105400
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.D90A (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.I113T (human)

OMIM
ClinVar
MouseDO
CTD
RGD

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

RGD:8655873, RGD:8655862, RGD:8655618, RGD:737689

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

OMIM:105400

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

SON DNA and RNA binding protein

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167

G

synaptojanin 1

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220

G

TAR DNA binding protein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: NEFH-related condition

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

NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055

G

TIAM Rac1 associated GEF 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1

PMID:11796754 PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901

G

TLE family member 3, transcriptional corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493

G

transmembrane protein 50B

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661

G

thymosin beta 4, X-linked

CTD Direct Evidence: marker/mechanism

NCBI chr X:27,144,666...27,146,667
Ensembl chr X:27,128,610...27,146,667
Ensembl chr10:27,128,610...27,146,667

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

tetratricopeptide repeat domain 3

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975

G

ubiquilin 2

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

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

NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505

G

unc-13 homolog A

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

NCBI chr16:18,333,910...18,381,813
Ensembl chr16:18,336,229...18,381,872

G

URB1 ribosome biogenesis homolog

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363

G

VAMP associated protein B and C

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

NCBI chr 3:162,535,974...162,578,747
Ensembl chr 3:162,535,905...162,573,763

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 chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

G

vascular endothelial growth factor A

OMIM:105400

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

G

VPS26 endosomal protein sorting factor C

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,813,467...33,841,883
Ensembl chr11:33,792,389...33,841,447

G

VPS54 subunit of GARP complex

OMIM:105400

NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857

G

Wnt family member 7A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981

G

X-linked inhibitor of apoptosis

CTD Direct Evidence: marker/mechanism

NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700

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 chr15:24,312,711...24,323,361

G

erb-b2 receptor tyrosine kinase 4

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

PMID:25741868 PMID:28492532

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

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 chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775

G

MBL associated serine protease 2

ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED

PMID:19224587 PMID:19236453 PMID:19864664 PMID:20301761 PMID:20959352 More...

NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580

G

optineurin

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

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

NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251

G

peripherin

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

NCBI chr 7:130,218,149...130,222,136
Ensembl chr 7:130,218,357...130,222,136

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 chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117

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 chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

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: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: TARDBP-related condition
OMIM:612069
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055

G

tubulin, alpha 4A

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

NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844

amyotrophic lateral sclerosis type 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

optineurin

susceptibility

ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12

PMID:9536098 PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 More...

NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251

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 chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505

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 chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017

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 chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631

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:27640074 More...

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

amyotrophic lateral sclerosis type 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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2328408 PMID:7920663 PMID:9536098 PMID:11586297 PMID:11586298 More...

NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737

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 chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609

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
OMIM:606070
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166

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 22 with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 | ClinVar Annotator: match by term: TUBA4A-related condition

PMID:25374358 PMID:25741868 PMID:28492532 PMID:39033378

NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918

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 chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797

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

susceptibility

ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24

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

NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723

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 chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858

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:25741868 PMID:26467025 PMID:26627873 PMID:28492532 PMID:28817800 More...

NCBI chr 4:118,852,765...118,883,252
Ensembl chr 4:118,852,837...118,880,586

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

ClinVar Annotator: match by term: LRP12-related condition

NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441

amyotrophic lateral sclerosis type 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
OMIM:602433
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More...

NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803

amyotrophic lateral sclerosis type 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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More...

NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911

G

transient receptor potential cation channel, subfamily V, member 4

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5

NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517

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 6, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
OMIM:608030
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:

OMIM
ClinVar
MouseDO
CTD
RGD

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

NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414

G

valosin-containing protein

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

NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

amyotrophic lateral sclerosis type 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC down-regulated 1 like

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

NCBI chr 3:162,587,484...162,658,362
Ensembl chr 3:162,582,252...162,658,073

G

ATP synthase F1 subunit epsilon

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

NCBI chr 3:163,259,072...163,261,974
Ensembl chr 3:163,260,476...163,261,450

G

cathepsin Z

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

NCBI chr 3:163,224,875...163,235,645
Ensembl chr 3:163,224,875...163,235,645

G

endothelin 3

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

NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093

G

GNAS complex locus

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

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

microRNA 296

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

NCBI chr 3:163,051,838...163,051,915
Ensembl chr 3:163,051,838...163,051,915

G

microRNA 298

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

NCBI chr 3:163,052,291...163,052,372
Ensembl chr 3:163,052,291...163,052,372

G

negative elongation factor complex member C/D

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

NCBI chr 3:163,213,765...163,224,886
Ensembl chr 3:163,213,762...163,224,884

G

aminopeptidase-like 1

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

NCBI chr 3:162,893,932...162,906,491
Ensembl chr 3:162,893,943...162,906,492

G

PRELI domain containing 3B

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

NCBI chr 3:163,263,059...163,271,055
Ensembl chr 3:163,262,985...163,271,181

G

syntaxin 16

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

NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489

G

tubulin, beta 1 class VI

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

NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063

G

VAMP associated protein B and C

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 3:162,535,974...162,578,747
Ensembl chr 3:162,535,905...162,573,763

G

zinc finger protein 831

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

NCBI chr 3:163,393,787...163,510,654
Ensembl chr 3:163,438,006...163,509,095

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr15:24,312,711...24,323,361

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 chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117

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 chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737

G

optineurin

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

NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251

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 chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970

G

transient receptor potential cation channel, subfamily M, member 7

susceptibility
no_association

DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Guam disease | ClinVar Annotator: match by term: TRPM7-related condition

ClinVar
OMIM
RGD

PMID:16051700 PMID:19405049 PMID:25741868 PMID:28492532 PMID:16051700 More...

RGD:5685005, RGD:5685008

NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190

autosomal dominant adult-onset proximal spinal muscular atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 1B

ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type

PMID:25741868 PMID:28492532

NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778

G

VAMP associated protein B and C

ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: FINKEL LATE-ADULT TYPE SMA | ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:15372378 PMID:16187141 PMID:16967488 PMID:17804640 PMID:18322265 More...

NCBI chr 3:162,535,974...162,578,747
Ensembl chr 3:162,535,905...162,573,763

autosomal dominant distal hereditary motor neuronopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BICD cargo adaptor 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant

PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 More...

NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889

G

dynein cytoplasmic 1 heavy chain 1

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant

PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:23664120 More...

NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883

G

FIG4 phosphoinositide 5-phosphatase

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant

NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844

G

glycyl-tRNA synthetase 1

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant

PMID:17101916 PMID:20301420 PMID:22462675 PMID:25168514

NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609

G

immunoglobulin mu DNA binding protein 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant

PMID:2545169 PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 More...

NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514

G

lamin A/C

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant

PMID:18585512 PMID:18926329 PMID:25741868 PMID:25886484 PMID:28152038 More...

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

MORC family CW-type zinc finger 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant

PMID:26659848 PMID:28492532 PMID:31475037

NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343

G

neurofilament light chain

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant

NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793

G

senataxin

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant

PMID:19696032 PMID:22088787 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803

G

transient receptor potential cation channel, subfamily V, member 4

ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant

PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 More...

NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517

autosomal dominant distal hereditary motor neuronopathy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

immunoglobulin mu DNA binding protein 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1

PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532

NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514

autosomal dominant distal hereditary motor neuronopathy 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastin microfibril interfacer 1

ClinVar Annotator: match by term: EMILIN1-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 10

PMID:25741868 PMID:26462740 PMID:28492532 PMID:31978608 PMID:36351433

NCBI chr 6:25,455,974...25,463,713
Ensembl chr 6:25,445,298...25,463,698

autosomal dominant distal hereditary motor neuronopathy 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

spectrin, alpha, non-erythrocytic 1

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 11

PMID:25741868 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420 More...

NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046

autosomal dominant distal hereditary motor neuronopathy 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BICD cargo adaptor 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B

PMID:24002164 PMID:28492532

NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889

G

receptor accessory protein 1

ClinVar Annotator: match by term: DHMN VB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B

PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:20718791 More...

NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338

autosomal dominant distal hereditary motor neuronopathy 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BSCL2 lipid droplet biogenesis associated, seipin

ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VC

PMID:1674639 PMID:5964029 PMID:11479539 PMID:12362029 PMID:14557463 More...

NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421

autosomal dominant distal hereditary motor neuronopathy 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynactin subunit 1

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B

CTD
OMIM
ClinVar

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

NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815

G

dynein cytoplasmic 1 heavy chain 1

ClinVar Annotator: match by term: Genetic motor neuron disease

NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883

G

glycyl-tRNA synthetase 1

ClinVar Annotator: match by term: Genetic motor neuron disease

NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609

G

mitofusin 2

ClinVar Annotator: match by term: Genetic motor neuron disease

PMID:16199547 PMID:16714318 PMID:18425620 PMID:21715711 PMID:22206013 More...

NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342

G

myelin protein zero

ClinVar Annotator: match by term: Genetic motor neuron disease

PMID:7693129 PMID:20571287 PMID:25694466 PMID:28492532

NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679

G

neurofilament light chain

ClinVar Annotator: match by term: Genetic motor neuron disease

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793

G

pleckstrin homology and RhoGEF domain containing G5

ClinVar Annotator: match by term: Genetic motor neuron disease

PMID:16728649 PMID:17564964

NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513

G

sodium voltage-gated channel alpha subunit 11

ClinVar Annotator: match by term: Genetic motor neuron disease

PMID:24776970 PMID:25741868 PMID:28492532

NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044

G

senataxin

ClinVar Annotator: match by term: Genetic motor neuron disease

NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803

G

SH3 domain and tetratricopeptide repeats 2

ClinVar Annotator: match by term: Genetic motor neuron disease

PMID:26467025 PMID:28492532

NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083

G

transient receptor potential cation channel, subfamily V, member 4

ClinVar Annotator: match by term: Genetic motor neuron disease

PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 More...

NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517

autosomal dominant distal hereditary motor neuronopathy 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box protein 38

ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2

PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 More...

NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961

G

heat shock protein family B (small) member 1

ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2

PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25220807 More...

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

G

heat shock protein family B (small) member 8

OMIM:158590
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A

OMIM
MouseDO
CTD
ClinVar

PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 More...

NCBI chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185

G

myelin protein zero

ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2

PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 More...

NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679

autosomal dominant distal hereditary motor neuronopathy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fukutin related protein

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B

PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More...

NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992

G

heat shock protein family B (small) member 1

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2814495 PMID:9536098 PMID:11528513 PMID:15122254 PMID:16087758 More...

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

autosomal dominant distal hereditary motor neuronopathy 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heat shock protein family B (small) member 3

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C

PMID:8972725 PMID:20142617 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr 2:45,295,285...45,295,999
Ensembl chr 2:45,295,053...45,296,145

autosomal dominant distal hereditary motor neuronopathy 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BSCL2 lipid droplet biogenesis associated, seipin

ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A

PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 More...

NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421

G

glycyl-tRNA synthetase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A

CTD
ClinVar
OMIM

PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 More...

NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609

G

pyridoxamine 5'-phosphate oxidase

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A

PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 More...

NCBI chr10:81,924,584...81,930,844
Ensembl chr10:81,924,569...81,930,871

G

receptor accessory protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338

autosomal dominant distal hereditary motor neuronopathy 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box protein 38

ClinVar Annotator: match by term: FBXO38-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D

PMID:7723957 PMID:24207122 PMID:25741868 PMID:28492532 PMID:31420593 More...

NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961

autosomal dominant distal hereditary motor neuronopathy 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 138

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376

G

ectodysplasin-A receptor

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494

G

GRIP and coiled-coil domain containing 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613

G

LIM zinc finger domain containing 1

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500

G

RAN binding protein 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481

G

solute carrier family 5 member 7

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More...

NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258

G

sulfotransferase family 1C member 2A

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734

G

sulfotransferase family 1C member 3

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030

autosomal dominant distal hereditary motor neuronopathy 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel, subfamily V, member 4

ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:17879966 More...

NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517

autosomal dominant distal hereditary motor neuronopathy 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tryptophanyl-tRNA synthetase 1

ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IX | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9

PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409

NCBI chr 6:127,776,088...127,807,273
Ensembl chr 6:127,776,090...127,807,269

autosomal recessive distal hereditary motor neuronopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type VI alpha 3 chain

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive

PMID:9536098 PMID:17576681 PMID:28492532

NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471

autosomal recessive distal hereditary motor neuronopathy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

immunoglobulin mu DNA binding protein 2

DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM:604320
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More...

NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514

autosomal recessive distal hereditary motor neuronopathy 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

VRK serine/threonine kinase 1

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 10

PMID:19646678 PMID:21543316 PMID:21920476 PMID:24126608 PMID:25356970 More...

NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436

autosomal recessive distal hereditary motor neuronopathy 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

reticulon 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity

PMID:10677333 PMID:12427890 PMID:22232211 PMID:38527963

NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069

autosomal recessive distal hereditary motor neuronopathy 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho guanine nucleotide exchange factor 39

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109

G

AT-rich interaction domain 3C

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888

G

atos homolog B

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892

G

carbonic anhydrase 9

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918

G

calicin

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951

G

C-C motif chemokine ligand 19

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308

G

C-C motif chemokine ligand 21

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686

G

C-C motif chemokine ligand 27

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506

G

Cd72 molecule

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611

G

clathrin, light chain A

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472

G

ciliary neurotrophic factor receptor

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392

G

cAMP responsive element binding protein 3

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390

G

dynactin subunit 3

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102

G

dynein, axonemal, intermediate chain 1

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925

G

DnaJ heat shock protein family (Hsp40) member B2

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2

PMID:22522442 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26752306 More...

NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277

G

DnaJ heat shock protein family (Hsp40) member B5

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490

G

energy homeostasis associated

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777

G

family with sequence similarity 221, member B

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367

G

FA complementation group G

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029

G

galactose-1-phosphate uridylyltransferase

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265

G

glucosylceramidase beta 2

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072

G

GLI pathogenesis-related 2

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272

G

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

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499

G

histidine triad nucleotide binding protein 2

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097

G

histidine rich carboxyl terminus 1

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790

G

interleukin 11 receptor subunit alpha 1

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408

G

microseminoprotein, prostate associated

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580

G

olfactory receptor family 13 subfamily C member 7

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852

G

olfactory receptor family 13 subfamily J member 1

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853

G

PHD finger protein 24

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497

G

phosphatidylinositol glycan anchor biosynthesis, class O

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146

G

reversion-inducing-cysteine-rich protein with kazal motifs

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502

G

RGP1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086

G

ribonuclease P/MRP subunit p25 like

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524

G

sigma non-opioid intracellular receptor 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar Annotator: match by term: Spinal muscular atrophy, Jerash type

OMIM
CTD
ClinVar

PMID:16199547 PMID:21031579 PMID:21842496 PMID:24088041 PMID:25175561 More...

NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017

G

signaling threshold regulating transmembrane adaptor 1

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838

G

sperm associated antigen 8

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894

G

SPATA31 subfamily F member 1

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738

G

SPATA31 subfamily G member 1

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070

G

stomatin like 2

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920

G

testis associated actin remodelling kinase 1

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698

G

talin 1

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900

G

transmembrane protein 8B

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772

G

tropomyosin 2

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992

G

unc-13 homolog B

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926

G

valosin-containing protein

ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2

NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

autosomal recessive distal hereditary motor neuronopathy 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pleckstrin homology and RhoGEF domain containing G5

ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 | ClinVar Annotator: match by term: PLEKHG5-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:16728649 PMID:17564964 PMID:17576681 More...

NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513

G

TNF receptor superfamily member 25

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4

NCBI chr 5:162,621,669...162,626,341
Ensembl chr 5:162,622,075...162,626,341

autosomal recessive distal hereditary motor neuronopathy 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmin

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

DnaJ heat shock protein family (Hsp40) member B2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22522442 PMID:23806086 More...

NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277

G

aspartyl aminopeptidase

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5

NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716

G

protein tyrosine phosphatase, receptor type, N

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5

NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190

G

regulated endocrine-specific protein 18

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5

NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722

autosomal recessive distal hereditary motor neuronopathy 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

receptor accessory protein 1

ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 6

PMID:21618648 PMID:25741868 PMID:31872057 PMID:34193129

NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338

autosomal recessive distal hereditary motor neuronopathy 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

von Willebrand factor A domain containing 1

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 7 | ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features

PMID:25741868 PMID:33459760 PMID:33559681 PMID:37712079

NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637

autosomal recessive distal hereditary motor neuronopathy 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sorbitol dehydrogenase

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 8

PMID:8622605 PMID:25741868 PMID:32367058 PMID:32457452 PMID:33201363 More...

NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133

autosomal recessive distal hereditary motor neuronopathy 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coenzyme Q7, hydroxylase

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 9

PMID:25741868 PMID:28492532 PMID:30369941 PMID:35782625 PMID:36454683 More...

NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158

Brown-Vialetto-Van Laere syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 52 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034

G

solute carrier family 52 member 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness

PMID:22718020 PMID:24033266 PMID:25741868 PMID:26072523 PMID:27702554 More...

NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096

Brown-Vialetto-Van Laere syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

casein kinase 2 alpha 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1

PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532<