amyotrophic lateral sclerosis (Q206901)

http://www.mhlw.go.jp/english/wp/wp-hw10/dl/02e.pdf

6 December 2018

http://www.nanbyou.or.jp/entry/52

6 December 2018

https://ddrare.nibiohn.go.jp/

17 May 2019

0 references

0 references

0 references

3 references

Neuregulin 1 confers neuroprotection in SOD1-linked amyotrophic lateral sclerosis mice via restoration of C-boutons of spinal motor neurons.

Measurement of spinal cord atrophy using phase sensitive inversion recovery (PSIR) imaging in motor neuron disease

30 November 2020

TDP-43 Proteinopathies

0 references

neurodegeneration

1 reference

3 July 2018

1 reference

30 November 2020

0 references

ALS Coronal.jpg
920 × 938; 102 KB

1 reference

Russian Wikipedia

nickname

Lou Gehrig's disease (English)

1 reference

https://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis

short name

ELA (Catalan)

0 references

ALS (English)

0 references

pronunciation audio

LL-Q33810 (ori)-Psubhashish-ଆମାୟୋଟ୍ରୋଫିକ୍ ଲାଟେରାଲ ସ୍କ୍ଲେରୋସିସ୍.wav
3.3 s; 307 KB

language of work or name

Odia

1 reference

https://lingualibre.org/wiki/Q648173

0 references

0 references

0 references

0 references

0 references

drug or therapy used for treatment

2 references

language of work or name

English

13 December 2016

Drug Indications Extracted from FAERS

2 October 2018

edaravone

1 reference

Drug Indications Extracted from FAERS

2 October 2018

12 December 1995

Food and Drug Administration

1 reference

Inxight: Drugs Database

2 November 2018

https://drugs.ncats.io/drug/7LJ087RS6F

https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=10c8d5e6-cb9f-402d-ab8e-65c1aa049e89

edaravone

start time

14 January 2010

approved by

Food and Drug Administration

1 reference

Inxight: Drugs Database

2 November 2018

https://drugs.ncats.io/drug/S798V6YJRP

http://www.e-search.ne.jp/~jpr/PDF/MT18.PDF

genetic association

ITGA9

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=3680

http://www.genome.gov/gwastudies/index.cfm?gene=ITGA9

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

CTNND2

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=1501

http://www.genome.gov/gwastudies/index.cfm?gene=CTNND2

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

TSPAN9

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=10867

http://www.genome.gov/gwastudies/index.cfm?gene=TSPAN9

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

TFAP2A

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=7020

http://www.genome.gov/gwastudies/index.cfm?gene=TFAP2A

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

ATP2B2

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=491

http://www.genome.gov/gwastudies/index.cfm?gene=ATP2B2

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

EPB41

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=2035

http://www.genome.gov/gwastudies/index.cfm?gene=EPB41

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

LRRC8C

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=84230

http://www.genome.gov/gwastudies/index.cfm?gene=LRRC8C

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

NFASC

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=23114

http://www.genome.gov/gwastudies/index.cfm?gene=NFASC

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

SLC25A12

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=8604

http://www.genome.gov/gwastudies/index.cfm?gene=SLC25A12

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

ERBB4

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=2066

http://www.genome.gov/gwastudies/index.cfm?gene=ERBB4

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

14 March 2020

TRPM8

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=79054

http://www.genome.gov/gwastudies/index.cfm?gene=TRPM8

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

KCNMB2

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=10242

http://www.genome.gov/gwastudies/index.cfm?gene=KCNMB2

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

MASP1

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=5648

http://www.genome.gov/gwastudies/index.cfm?gene=MASP1

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

ANXA3

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=306

http://www.genome.gov/gwastudies/index.cfm?gene=ANXA3

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

SYNPO2

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=171024

http://www.genome.gov/gwastudies/index.cfm?gene=SYNPO2

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

INPP4B

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=8821

http://www.genome.gov/gwastudies/index.cfm?gene=INPP4B

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

LAMA2

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=3908

http://www.genome.gov/gwastudies/index.cfm?gene=LAMA2

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

CALN1

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=83698

http://www.genome.gov/gwastudies/index.cfm?gene=CALN1

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

TBXAS1

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=6916

http://www.genome.gov/gwastudies/index.cfm?gene=TBXAS1

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

PDGFRL

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=5157

http://www.genome.gov/gwastudies/index.cfm?gene=PDGFRL

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

ANK3

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=288

http://www.genome.gov/gwastudies/index.cfm?gene=ANK3

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

LDHC

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=3948

http://www.genome.gov/gwastudies/index.cfm?gene=LDHC

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

RBM19

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=9904

http://www.genome.gov/gwastudies/index.cfm?gene=RBM19

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

TMEM132B

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=114795

http://www.genome.gov/gwastudies/index.cfm?gene=TMEM132B

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

OLFM4

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=10562

http://www.genome.gov/gwastudies/index.cfm?gene=OLFM4

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

DACH1

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=1602

http://www.genome.gov/gwastudies/index.cfm?gene=DACH1

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

ZFYVE26

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=23503

http://www.genome.gov/gwastudies/index.cfm?gene=ZFYVE26

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

RGS6

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=9628

http://www.genome.gov/gwastudies/index.cfm?gene=RGS6

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

ABCC12

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=94160

http://www.genome.gov/gwastudies/index.cfm?gene=ABCC12

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

NEDD4L

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=23327

http://www.genome.gov/gwastudies/index.cfm?gene=NEDD4L

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

MACROD2

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=140733

http://www.genome.gov/gwastudies/index.cfm?gene=MACROD2

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

PROCR

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=10544

http://www.genome.gov/gwastudies/index.cfm?gene=PROCR

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

NFATC2

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=4773

http://www.genome.gov/gwastudies/index.cfm?gene=NFATC2

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

CHODL

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=140578

http://www.genome.gov/gwastudies/index.cfm?gene=CHODL

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

HOXD10

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=3236

http://www.genome.gov/gwastudies/index.cfm?gene=HOXD10

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

MRAS

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=22808

http://www.genome.gov/gwastudies/index.cfm?gene=MRAS

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

ABCG1

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=9619

http://www.genome.gov/gwastudies/index.cfm?gene=ABCG1

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations

25 May 2020

ANKRD29

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=147463

http://www.genome.gov/gwastudies/index.cfm?gene=ANKRD29

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

25 May 2020

UNC13A

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=23025

http://www.genome.gov/gwastudies/index.cfm?gene=UNC13A

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

25 May 2020

CPNE4

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=131034

http://www.genome.gov/gwastudies/index.cfm?gene=CPNE4

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

25 May 2020

KIAA0513

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=9764

http://www.genome.gov/gwastudies/index.cfm?gene=KIAA0513

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

25 May 2020

LAMA3

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=3909

http://www.genome.gov/gwastudies/index.cfm?gene=LAMA3

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

25 May 2020

ST3GAL3

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=6487

http://www.genome.gov/gwastudies/index.cfm?gene=ST3GAL3

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

25 May 2020

ARHGEF2

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=9181

http://www.genome.gov/gwastudies/index.cfm?gene=ARHGEF2

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

25 May 2020

PTPRF

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=5792

http://www.genome.gov/gwastudies/index.cfm?gene=PTPRF

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

25 May 2020

ARAP2

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=116984

http://www.genome.gov/gwastudies/index.cfm?gene=ARAP2

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

25 May 2020

IFRD1

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=3475

http://www.genome.gov/gwastudies/index.cfm?gene=IFRD1

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

25 May 2020

PCSK5

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=5125

http://www.genome.gov/gwastudies/index.cfm?gene=PCSK5

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

25 May 2020

CNOT2

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=4848

http://www.genome.gov/gwastudies/index.cfm?gene=CNOT2

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

25 May 2020

ANKS1B

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=56899

http://www.genome.gov/gwastudies/index.cfm?gene=ANKS1B

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

18 February 2020

NRXN3

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=9369

http://www.genome.gov/gwastudies/index.cfm?gene=NRXN3

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

25 May 2020

B4GALT6

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=9331

http://www.genome.gov/gwastudies/index.cfm?gene=B4GALT6

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

25 May 2020

NT5C1A

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=84618

http://www.genome.gov/gwastudies/index.cfm?gene=NT5C1A

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

25 May 2020

SLC39A11

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=201266

http://www.genome.gov/gwastudies/index.cfm?gene=SLC39A11

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

25 May 2020

ATXN1

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=6310

http://www.genome.gov/gwastudies/index.cfm?gene=ATXN1

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

25 May 2020

CNTN4

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=152330

http://www.genome.gov/gwastudies/index.cfm?gene=CNTN4

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

25 May 2020

KIFAP3

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=22920

http://www.genome.gov/gwastudies/index.cfm?gene=KIFAP3

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

25 May 2020

SELL

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=6402

http://www.genome.gov/gwastudies/index.cfm?gene=SELL

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

25 May 2020

DPP6

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=1804

http://www.genome.gov/gwastudies/index.cfm?gene=DPP6

Screening for replication of genome-wide SNP associations in sporadic ALS

25 May 2020

ITPR2

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=3709

http://www.genome.gov/gwastudies/index.cfm?gene=ITPR2

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

25 May 2020

ZFP64

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=55734

http://www.genome.gov/gwastudies/index.cfm?gene=ZFP64

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

25 May 2020

SUSD1

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=64420

http://www.genome.gov/gwastudies/index.cfm?gene=SUSD1

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

25 May 2020

1 reference

1 reference

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

ANG

1 reference

A novel candidate region for ALS on chromosome 14q11.2.

TARDBP

3 references

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000120948/MONDO_0004976

inferred from an Open Targets association score over 0.7

TUBA4A

1 reference

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

FIG4

2 references

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000112367/MONDO_0004976

inferred from an Open Targets association score over 0.7

OPTN

2 references

Mutations of optineurin in amyotrophic lateral sclerosis

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000123240/MONDO_0004976

inferred from an Open Targets association score over 0.7

FUS

1 reference

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

SOD1

2 references

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000142168/MONDO_0004976

inferred from an Open Targets association score over 0.7

VCP

2 references

Exome sequencing reveals VCP mutations as a cause of familial ALS

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000165280/MONDO_0004976

inferred from an Open Targets association score over 0.7

HNRNPA1

1 reference

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

PFN1

1 reference

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

UBQLN2

1 reference

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

VAPB

1 reference

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

CHMP2B

1 reference

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

external data available at URL

http://www.nanbyou.or.jp/entry/52

language of work or name

Japanese

1 reference

https://ddrare.nibiohn.go.jp/

on focus list of Wikimedia project

17 May 2019

WikiProject Medicine

0 references

ICD-9-CM

335.20

2 references

15 May 2019

3 July 2018

N99

1 reference

http://purl.obolibrary.org/obo/DOID_332

Spanish Wikipedia

NCI Thesaurus ID

C34373

1 reference

15 May 2019

1 reference

30 November 2020

http://identifiers.org/doid/DOID:332

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://purl.obolibrary.org/obo/HP_0007354

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

http://www.orpha.net/ORDO/Orphanet_803

HP:0007354

0 references

Commons category

Amyotrophic lateral sclerosis

0 references

topic's main template

Template:Amyotrophic lateral sclerosis

1 reference

inferred from

Template:Amyotrophic lateral sclerosis

topic's main category

Category:Amyotrophic lateral sclerosis

1 reference

Bibliothèque nationale de France ID

Identifiers

12110754p

0 references

National Library of Israel J9U ID

987007294733105171

1 reference

National Library of Israel

Library of Congress authority ID

sh85004728

0 references

National Library of Latvia ID

0 references

0 references

amyotrofická laterální skleróza

0 references

MeSH descriptor ID

D000690

mapping relation type

exact match

subject named as

Amyotrophic Lateral Sclerosis

1 reference

3 July 2018

0 references

0 references

0 references

0 references

0 references

1 reference

PatientsLikeMe condition ID

0 references

0 references

0 references

6c2f0633-2664-4233-ba56-5ce53cb764f9

1 reference

1 reference

National Central Library of Florence

1 reference

30 November 2020

1 reference

eMedicine ID

1170097

1 reference

791154

1 reference

306543

1 reference

Genetics Home Reference Conditions ID

1 reference

28 October 2013

0 references

0 references

amyotrophic-lateral-sclerosis

0 references

Gran Enciclopèdia Catalana ID

esclerosi-lateral

0 references

Gran Enciclopèdia Catalana ID (former scheme)

0180358

0 references

Great Russian Encyclopedia Online ID (old version)

4424982

subject named as

АМИОТРОФИЧЕСКИЙ БОКОВОЙ СКЛЕРОЗ

0 references

1818344

reason for deprecated rank

redirect

0 references

HP:0007354

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

2 references

15 May 2019

3 July 2018

1 reference

3 July 2018

0 references

8B60.0

Amyotrophic lateral sclerosis

0 references

ICD-9 ID

335.20

1 reference

https://ru.wikipedia.org/?oldid=131108756

Russian Wikipedia

Wikimedia import URL

internetmedicin.se ID

1054

1 reference

amyotrophic-lateral-sclerosis

Swedish Wikipedia

JSTOR topic ID

0 references

KBpedia ID

AmyotrophicLateralSclerosis

1 reference

9 July 2020

0 references

0 references

1 reference

https://en.wikipedia.org/w/index.php?title=Amyotrophic_lateral_sclerosis&oldid=954719609

Wikimedia import URL

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

15 May 2019

Motor-Neurone-Disease-(MND)

1 reference

http://www.patient.co.uk/patientplus/a.htm

Quora topic ID

Amyotrophic-Lateral-Sclerosis-ALS

0 references

Store medisinske leksikon ID

ALS_-_amyotrofisk_lateral_sklerose

0 references

subreddit

ALS

1 reference

https://old.reddit.com/r/ALS/

title

ALS (English)

UK Parliament thesaurus ID

28 November 2021

288352

subject named as

Motor neurone disease

0 references

2 references

15 May 2019

Human Phenotype Ontology release 2018-03-08

8 October 2018

HP:0007354

C0393554

1 reference