MCID: ALS003
MIFTS: 3

Als2-Related Disorders

Aliases & Classifications for Als2-Related Disorders

MalaCards integrated aliases for Als2-Related Disorders:

Name: Als2-Related Disorders 24 29 6

Summaries for Als2-Related Disorders

MalaCards based summary : Als2-Related Disorders An important gene associated with Als2-Related Disorders is ALS2 (ALS2, Alsin Rho Guanine Nucleotide Exchange Factor).

GeneReviews: NBK1243

Related Diseases for Als2-Related Disorders

Symptoms & Phenotypes for Als2-Related Disorders

Drugs & Therapeutics for Als2-Related Disorders

Search Clinical Trials , NIH Clinical Center for Als2-Related Disorders

Genetic Tests for Als2-Related Disorders

Genetic tests related to Als2-Related Disorders:

# Genetic test Affiliating Genes
1 Als2-Related Disorders 29

Anatomical Context for Als2-Related Disorders

Publications for Als2-Related Disorders

Articles related to Als2-Related Disorders:

# Title Authors Year
1
ALS2-Related Disorders ( 20301421 )
1993

Variations for Als2-Related Disorders

ClinVar genetic disease variations for Als2-Related Disorders:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALS2 NM_020919.3(ALS2): c.2241C> T (p.Tyr747=) single nucleotide variant Conflicting interpretations of pathogenicity rs3219160 GRCh37 Chromosome 2, 202606507: 202606507
2 ALS2 NM_020919.3(ALS2): c.2241C> T (p.Tyr747=) single nucleotide variant Conflicting interpretations of pathogenicity rs3219160 GRCh38 Chromosome 2, 201741784: 201741784
3 ALS2 NM_020919.3(ALS2): c.4580+7G> A single nucleotide variant Benign rs3219169 GRCh37 Chromosome 2, 202571562: 202571562
4 ALS2 NM_020919.3(ALS2): c.4580+7G> A single nucleotide variant Benign rs3219169 GRCh38 Chromosome 2, 201706839: 201706839
5 ALS2 NM_020919.3(ALS2): c.4015C> T (p.Leu1339=) single nucleotide variant Benign rs3219168 GRCh37 Chromosome 2, 202575821: 202575821
6 ALS2 NM_020919.3(ALS2): c.4015C> T (p.Leu1339=) single nucleotide variant Benign rs3219168 GRCh38 Chromosome 2, 201711098: 201711098
7 ALS2 NM_020919.3(ALS2): c.3885G> A (p.Ala1295=) single nucleotide variant Benign/Likely benign rs34946105 GRCh37 Chromosome 2, 202580514: 202580514
8 ALS2 NM_020919.3(ALS2): c.3885G> A (p.Ala1295=) single nucleotide variant Benign/Likely benign rs34946105 GRCh38 Chromosome 2, 201715791: 201715791
9 ALS2 NM_020919.3(ALS2): c.2796C> T (p.Ser932=) single nucleotide variant Benign/Likely benign rs3219161 GRCh37 Chromosome 2, 202593280: 202593280
10 ALS2 NM_020919.3(ALS2): c.2796C> T (p.Ser932=) single nucleotide variant Benign/Likely benign rs3219161 GRCh38 Chromosome 2, 201728557: 201728557
11 ALS2 NM_020919.3(ALS2): c.2466G> A (p.Val822=) single nucleotide variant Benign rs2276615 GRCh37 Chromosome 2, 202598113: 202598113
12 ALS2 NM_020919.3(ALS2): c.2466G> A (p.Val822=) single nucleotide variant Benign rs2276615 GRCh38 Chromosome 2, 201733390: 201733390
13 ALS2 NM_020919.3(ALS2): c.1816-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs185911369 GRCh37 Chromosome 2, 202611479: 202611479
14 ALS2 NM_020919.3(ALS2): c.1816-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs185911369 GRCh38 Chromosome 2, 201746756: 201746756
15 ALS2 NM_020919.3(ALS2): c.1102G> A (p.Val368Met) single nucleotide variant Benign rs3219156 GRCh37 Chromosome 2, 202625615: 202625615
16 ALS2 NM_020919.3(ALS2): c.1102G> A (p.Val368Met) single nucleotide variant Benign rs3219156 GRCh38 Chromosome 2, 201760892: 201760892
17 ALS2 NM_020919.3(ALS2): c.280A> G (p.Ile94Val) single nucleotide variant Benign/Likely benign rs3219154 GRCh37 Chromosome 2, 202626437: 202626437
18 ALS2 NM_020919.3(ALS2): c.280A> G (p.Ile94Val) single nucleotide variant Benign/Likely benign rs3219154 GRCh38 Chromosome 2, 201761714: 201761714
19 ALS2 NM_020919.3(ALS2): c.20+7T> C single nucleotide variant Benign rs3219153 GRCh37 Chromosome 2, 202633582: 202633582
20 ALS2 NM_020919.3(ALS2): c.20+7T> C single nucleotide variant Benign rs3219153 GRCh38 Chromosome 2, 201768859: 201768859
21 ALS2 NM_020919.3(ALS2): c.4119A> G (p.Ile1373Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61757691 GRCh37 Chromosome 2, 202575717: 202575717
22 ALS2 NM_020919.3(ALS2): c.4119A> G (p.Ile1373Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61757691 GRCh38 Chromosome 2, 201710994: 201710994
23 ALS2 NM_020919.3(ALS2): c.*1004G> A single nucleotide variant Likely benign rs11300 GRCh38 Chromosome 2, 201700847: 201700847
24 ALS2 NM_020919.3(ALS2): c.*1004G> A single nucleotide variant Likely benign rs11300 GRCh37 Chromosome 2, 202565570: 202565570
25 ALS2 NM_020919.3(ALS2): c.*379T> A single nucleotide variant Likely benign rs144613080 GRCh38 Chromosome 2, 201701472: 201701472
26 ALS2 NM_020919.3(ALS2): c.*379T> A single nucleotide variant Likely benign rs144613080 GRCh37 Chromosome 2, 202566195: 202566195
27 ALS2 NM_020919.3(ALS2): c.3876G> A (p.Lys1292=) single nucleotide variant Uncertain significance rs200417604 GRCh38 Chromosome 2, 201715800: 201715800
28 ALS2 NM_020919.3(ALS2): c.3876G> A (p.Lys1292=) single nucleotide variant Uncertain significance rs200417604 GRCh37 Chromosome 2, 202580523: 202580523
29 ALS2 NM_020919.3(ALS2): c.3625-16_3625-15delTT deletion Likely benign rs370628135 GRCh38 Chromosome 2, 201723135: 201723136
30 ALS2 NM_020919.3(ALS2): c.3625-16_3625-15delTT deletion Likely benign rs370628135 GRCh37 Chromosome 2, 202587858: 202587859
31 ALS2 NM_020919.3(ALS2): c.2909G> T (p.Gly970Val) single nucleotide variant Uncertain significance rs375742430 GRCh38 Chromosome 2, 201727708: 201727708
32 ALS2 NM_020919.3(ALS2): c.2909G> T (p.Gly970Val) single nucleotide variant Uncertain significance rs375742430 GRCh37 Chromosome 2, 202592431: 202592431
33 ALS2 NM_020919.3(ALS2): c.2479A> T (p.Thr827Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs202219507 GRCh38 Chromosome 2, 201733377: 201733377
34 ALS2 NM_020919.3(ALS2): c.2479A> T (p.Thr827Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs202219507 GRCh37 Chromosome 2, 202598100: 202598100
35 ALS2 NM_020919.3(ALS2): c.1251A> G (p.Ser417=) single nucleotide variant Uncertain significance rs750482532 GRCh38 Chromosome 2, 201757622: 201757622
36 ALS2 NM_020919.3(ALS2): c.1251A> G (p.Ser417=) single nucleotide variant Uncertain significance rs750482532 GRCh37 Chromosome 2, 202622345: 202622345
37 ALS2 NM_020919.3(ALS2): c.-128C> T single nucleotide variant Likely benign rs2276614 GRCh38 Chromosome 2, 201780944: 201780944
38 ALS2 NM_020919.3(ALS2): c.-128C> T single nucleotide variant Likely benign rs2276614 GRCh37 Chromosome 2, 202645667: 202645667
39 ALS2 NM_020919.3(ALS2): c.-328A> G single nucleotide variant Uncertain significance rs137949180 GRCh38 Chromosome 2, 201781144: 201781144
40 ALS2 NM_020919.3(ALS2): c.-328A> G single nucleotide variant Uncertain significance rs137949180 GRCh37 Chromosome 2, 202645867: 202645867
41 ALS2 NM_020919.3(ALS2): c.*1202C> T single nucleotide variant Uncertain significance rs41309068 GRCh38 Chromosome 2, 201700649: 201700649
42 ALS2 NM_020919.3(ALS2): c.*1202C> T single nucleotide variant Uncertain significance rs41309068 GRCh37 Chromosome 2, 202565372: 202565372
43 ALS2 NM_020919.3(ALS2): c.*447G> A single nucleotide variant Likely benign rs3219173 GRCh38 Chromosome 2, 201701404: 201701404
44 ALS2 NM_020919.3(ALS2): c.*447G> A single nucleotide variant Likely benign rs3219173 GRCh37 Chromosome 2, 202566127: 202566127
45 ALS2 NM_020919.3(ALS2): c.*163A> G single nucleotide variant Uncertain significance rs3219172 GRCh38 Chromosome 2, 201701688: 201701688
46 ALS2 NM_020919.3(ALS2): c.*163A> G single nucleotide variant Uncertain significance rs3219172 GRCh37 Chromosome 2, 202566411: 202566411
47 ALS2 NM_020919.3(ALS2): c.*105A> C single nucleotide variant Likely benign rs141509107 GRCh38 Chromosome 2, 201701746: 201701746
48 ALS2 NM_020919.3(ALS2): c.*105A> C single nucleotide variant Likely benign rs141509107 GRCh37 Chromosome 2, 202566469: 202566469
49 ALS2 NM_020919.3(ALS2): c.3206G> A (p.Gly1069Glu) single nucleotide variant Uncertain significance rs200706696 GRCh38 Chromosome 2, 201726526: 201726526
50 ALS2 NM_020919.3(ALS2): c.3206G> A (p.Gly1069Glu) single nucleotide variant Uncertain significance rs200706696 GRCh37 Chromosome 2, 202591249: 202591249

Expression for Als2-Related Disorders

Search GEO for disease gene expression data for Als2-Related Disorders.

Pathways for Als2-Related Disorders

GO Terms for Als2-Related Disorders

Sources for Als2-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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