MCID: AMY036

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia malady

Genetic diseases (common), Mental diseases categories

Summaries for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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48OMIM, 34MalaCards
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MalaCards: Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia An important gene associated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia is FUS (fused in sarcoma).

Description from OMIM:48 608030

Aliases & Classifications for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Mental diseases


Aliases & Descriptions:

amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia 48


Related Diseases for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Symptoms for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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48OMIM
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Clinical features from OMIM:

608030

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia

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Genetic Tests for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Anatomical Context for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Animal Models for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or... or affiliated genes

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Publications for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Variations for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia:

65 (show all 18)
id Symbol AA change Variation ID SNP ID
1FUSp.Arg244CysVAR_054837
2FUSp.Arg514GlyVAR_054838
3FUSp.Arg514SerVAR_054839
4FUSp.Gly515CysVAR_054840
5FUSp.Arg518LysVAR_054842
6FUSp.Arg521CysVAR_054843
7FUSp.Arg521GlyVAR_054844
8FUSp.Arg521HisVAR_054845
9FUSp.Arg522GlyVAR_054846
10FUSp.Arg524SerVAR_054847
11FUSp.Arg524ThrVAR_054848
12FUSp.Pro525LeuVAR_054849
13FUSp.Gly191SerVAR_068918
14FUSp.Arg216CysVAR_068919
15FUSp.Gly225ValVAR_068920
16FUSp.Gly230CysVAR_068921
17FUSp.Arg234CysVAR_068922
18FUSp.Gly507AspVAR_068924

Clinvar genetic disease variations for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia:

1
id Gene Name Type Significance SNP ID Assembly Location
1FUSNM_004960.3(FUS): c.1561C> G (p.Arg521Gly)single nucleotide variantPathogenicrs121909668GRCh37Chr 16, 31202739: 31202739
2FUSNM_004960.3(FUS): c.1553G> A (p.Arg518Lys)single nucleotide variantPathogenicrs121909669GRCh37Chr 16, 31202731: 31202731
3FUSNM_004960.3(FUS): c.1561C> T (p.Arg521Cys)single nucleotide variantPathogenicrs121909668GRCh37Chr 16, 31202739: 31202739
4FUSNM_004960.3(FUS): c.1562G> A (p.Arg521His)single nucleotide variantPathogenicrs121909671GRCh37Chr 16, 31202740: 31202740
5FUSNM_004960.3(FUS): c.1520G> A (p.Gly507Asp)single nucleotide variantPathogenicrs267606831GRCh37Chr 16, 31202410: 31202410
6FUSNM_004960.3(FUS): c.646C> T (p.Arg216Cys)single nucleotide variantPathogenicrs267606832GRCh37Chr 16, 31196382: 31196382
7FUSNM_004960.3(FUS): c.1570A> T (p.Arg524Trp)single nucleotide variantPathogenicrs267606833GRCh37Chr 16, 31202748: 31202748
8FUSNM_004960.3(FUS): c.1483C> T (p.Arg495Ter)single nucleotide variantPathogenicrs387906627GRCh37Chr 16, 31202373: 31202373
9FUSNM_004960.3(FUS): c.616G> A (p.Gly206Ser)single nucleotide variantPathogenicrs387906628GRCh37Chr 16, 31196352: 31196352

Expression for genes affiliated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia

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Pathways for genes affiliated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Compounds for genes affiliated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Products for genes affiliated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet