MCID: UBQ001
MIFTS: 7

Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia malady

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

Aliases & Descriptions for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia:

Name: Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia 24
Amyotrophic Lateral Sclerosis 15, with or Without Frontotemporal Dementia 24

Classifications:



Summaries for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

MalaCards based summary : Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia, also known as amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, is related to amyotrophic lateral sclerosis 15, with or without frontotemporal dementia. An important gene associated with Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia is UBQLN2 (Ubiquilin 2).

Related Diseases for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

Diseases in the Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 family:

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia Vcp-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia

Diseases related to Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 12.8

Symptoms & Phenotypes for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

Drugs & Therapeutics for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

Search Clinical Trials , NIH Clinical Center for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia

Genetic Tests for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

Genetic tests related to Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia:

id Genetic test Affiliating Genes
1 Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia 24 UBQLN2

Anatomical Context for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

Publications for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

Variations for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

ClinVar genetic disease variations for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UBQLN2 NM_013444.3(UBQLN2): c.1490C> A (p.Pro497His) single nucleotide variant Pathogenic rs387906709 GRCh37 Chromosome X, 56591796: 56591796
2 UBQLN2 NM_013444.3(UBQLN2): c.1489C> T (p.Pro497Ser) single nucleotide variant Pathogenic rs387906710 GRCh37 Chromosome X, 56591795: 56591795
3 UBQLN2 NM_013444.3(UBQLN2): c.1516C> A (p.Pro506Thr) single nucleotide variant Pathogenic rs387906711 GRCh37 Chromosome X, 56591822: 56591822
4 UBQLN2 NM_013444.3(UBQLN2): c.1525C> T (p.Pro509Ser) single nucleotide variant Pathogenic rs387906712 GRCh37 Chromosome X, 56591831: 56591831
5 UBQLN2 NM_013444.3(UBQLN2): c.1573C> T (p.Pro525Ser) single nucleotide variant Pathogenic rs369947678 GRCh37 Chromosome X, 56591879: 56591879
6 UBQLN2 NM_013444.3(UBQLN2): c.1490C> T (p.Pro497Leu) single nucleotide variant Pathogenic rs387906709 GRCh38 Chromosome X, 56565363: 56565363

Expression for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

Search GEO for disease gene expression data for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia.

Pathways for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

GO Terms for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

Sources for Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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