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ALS14
MCID: AMY074
MIFTS: 28

Amyotrophic Lateral Sclerosis Type 14 (ALS14)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Tissues Related diseases Pathways
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Aliases & Classifications for Amyotrophic Lateral Sclerosis Type 14

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MalaCards integrated aliases for Amyotrophic Lateral Sclerosis Type 14:

Name: Amyotrophic Lateral Sclerosis Type 14 12 15
Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia 73
Amyotrophic Lateral Sclerosis, with or Without Frontotemporal Dementia 12
Amyotrophic Lateral Sclerosis 14 12
Als14 12

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases Respiratory diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0060205
UMLS 73 C3151403
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Summaries for Amyotrophic Lateral Sclerosis Type 14

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Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the VCP gene on chromosome 9.

MalaCards based summary : Amyotrophic Lateral Sclerosis Type 14, also known as amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, is related to amyotrophic lateral sclerosis 14 with or without frontotemporal dementia and bronchopneumonia. An important gene associated with Amyotrophic Lateral Sclerosis Type 14 is UBQLN2 (Ubiquilin 2), and among its related pathways/superpathways are TBC/RABGAPs and Mitophagy - animal. Affiliated tissues include brain and bone.

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Related Diseases for Amyotrophic Lateral Sclerosis Type 14

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Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 12 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 25 Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 14
Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 22
Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis Type 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 11.9
2 bronchopneumonia 10.1 VAPA VAPB
3 postpoliomyelitis syndrome 10.1 TARDBP VCP
4 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.1 TARDBP VCP
5 expressive language disorder 10.1 FUS TARDBP
6 amyotrophic lateral sclerosis 8 10.1 FAF1 VAPA VAPB
7 amyotrophic lateral sclerosis 12 10.1 A1BG OPTN
8 amyotrophic lateral sclerosis type 6 10.1 FUS TARDBP
9 amyotrophic lateral sclerosis 18 10.0 FUS TARDBP
10 lethal congenital contracture syndrome 1 10.0 FUS TARDBP
11 brown-vialetto-van laere syndrome 10.0 TARDBP UBQLN2
12 anterior horn cell disease 10.0 FUS TARDBP
13 amyotrophic lateral sclerosis 7 9.9 FUS OPTN TARDBP
14 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.9 FUS OPTN TARDBP
15 amyotrophic lateral sclerosis 9 9.9 FUS OPTN TARDBP
16 spinocerebellar ataxia 31 9.9 FUS TARDBP
17 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.9 FUS TARDBP UBQLN2 VCP
18 frontotemporal dementia 9.9 FUS TARDBP UBQLN2 VCP
19 dementia 9.9 FUS TARDBP UBQLN2 VCP
20 pick disease of brain 9.9 FUS TARDBP
21 amyotrophic lateral sclerosis 11 9.8 A1BG FUS OPTN TARDBP
22 amyotrophic lateral sclerosis 21 9.7 FUS OPTN TARDBP VAPB VCP
23 motor neuron disease 9.7 FUS OPTN TARDBP VAPB VCP
24 lateral sclerosis 9.6 FUS OPTN TARDBP UBQLN2 VAPB VCP
25 amyotrophic lateral sclerosis 1 9.3 A1BG FUS OPTN TARDBP UBQLN2 VAPA

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis Type 14:



Diseases related to Amyotrophic Lateral Sclerosis Type 14
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Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis Type 14

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Drugs & Therapeutics for Amyotrophic Lateral Sclerosis Type 14

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Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis Type 14

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Genetic Tests for Amyotrophic Lateral Sclerosis Type 14

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Anatomical Context for Amyotrophic Lateral Sclerosis Type 14

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MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis Type 14:

41
Brain, Bone
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Publications for Amyotrophic Lateral Sclerosis Type 14

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Variations for Amyotrophic Lateral Sclerosis Type 14

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Expression for Amyotrophic Lateral Sclerosis Type 14

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Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis Type 14.
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Pathways for Amyotrophic Lateral Sclerosis Type 14

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Pathways related to Amyotrophic Lateral Sclerosis Type 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
TBC/RABGAPs 66
10.63 GABARAPL2 OPTN
2
Mitophagy - animal 37
10.61 GABARAPL1 GABARAPL2 OPTN
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GO Terms for Amyotrophic Lateral Sclerosis Type 14

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Cellular components related to Amyotrophic Lateral Sclerosis Type 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.96 ASNA1 FAF1 FUS GABARAPL1 GABARAPL2 OPTN
2 endoplasmic reticulum GO:0005783 9.85 ASNA1 GABARAPL1 VAPA VAPB VCP
3 cytoplasmic vesicle GO:0031410 9.73 GABARAPL1 GABARAPL2 OPTN UBQLN2
4 Golgi membrane GO:0000139 9.71 GABARAPL2 OPTN VAPA VAPB
5 autophagosome membrane GO:0000421 9.37 GABARAPL1 GABARAPL2
6 perinuclear region of cytoplasm GO:0048471 9.35 FAF1 FUS OPTN VAPA VCP
7 endoplasmic reticulum exit site GO:0070971 9.32 VAPA VAPB
8 VCP-NPL4-UFD1 AAA ATPase complex GO:0034098 9.16 FAF1 VCP
9 autophagosome GO:0005776 8.92 GABARAPL1 GABARAPL2 OPTN UBQLN2

Biological processes related to Amyotrophic Lateral Sclerosis Type 14 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.63 VAPA VAPB VCP
2 autophagosome assembly GO:0000045 9.52 GABARAPL1 GABARAPL2
3 sphingolipid biosynthetic process GO:0030148 9.51 VAPA VAPB
4 macroautophagy GO:0016236 9.5 GABARAPL1 GABARAPL2 VCP
5 endoplasmic reticulum unfolded protein response GO:0030968 9.49 VAPB VCP
6 autophagy of mitochondrion GO:0000422 9.48 GABARAPL1 GABARAPL2
7 endoplasmic reticulum organization GO:0007029 9.43 VAPA VAPB
8 positive regulation of protein complex assembly GO:0031334 9.4 FAF1 VCP
9 cellular response to nitrogen starvation GO:0006995 9.37 GABARAPL1 GABARAPL2
10 cell death GO:0008219 9.33 FAF1 OPTN VAPA
11 COPII-coated vesicle budding GO:0090114 9.26 VAPA VAPB
12 autophagosome maturation GO:0097352 9.13 GABARAPL1 GABARAPL2 VCP
13 autophagy GO:0006914 9.02 GABARAPL1 GABARAPL2 OPTN UBQLN2 VCP

Molecular functions related to Amyotrophic Lateral Sclerosis Type 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.61 FAF1 VAPA VCP
2 microtubule binding GO:0008017 9.58 GABARAPL2 VAPA VAPB
3 ubiquitin protein ligase binding GO:0031625 9.46 FAF1 GABARAPL1 GABARAPL2 VCP
4 polyubiquitin modification-dependent protein binding GO:0031593 9.32 OPTN VCP
5 GABA receptor binding GO:0050811 9.26 GABARAPL1 GABARAPL2
6 beta-tubulin binding GO:0048487 9.13 GABARAPL1 GABARAPL2 VAPB
7 FFAT motif binding GO:0033149 8.62 VAPA VAPB
8 protein binding GO:0005515 10.11 ASNA1 FAF1 FUS GABARAPL1 GABARAPL2 OPTN
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Sources for Amyotrophic Lateral Sclerosis Type 14

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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