ALS14
MCID: AMY074
MIFTS: 26

Amyotrophic Lateral Sclerosis Type 14 (ALS14)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis Type 14

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 74
Amyotrophic Lateral Sclerosis, with or Without Frontotemporal Dementia 12
Amyotrophic Lateral Sclerosis 14 12
Als14 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060205
UMLS 74 C3151403

Summaries for Amyotrophic Lateral Sclerosis Type 14

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.

Related Diseases for Amyotrophic Lateral Sclerosis Type 14

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 15)
# 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 amyotrophic lateral sclerosis 8 10.0 FAF1 VAPA VAPB
4 amyotrophic lateral sclerosis 11 9.9 FUS OPTN
5 amyotrophic lateral sclerosis 7 9.9 FUS OPTN
6 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.9 FUS UBQLN2 VCP
7 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.9 FUS OPTN
8 frontotemporal dementia 9.9 FUS UBQLN2 VCP
9 dementia 9.9 FUS UBQLN2 VCP
10 amyotrophic lateral sclerosis 9 9.8 FUS OPTN
11 paget's disease of bone 9.8 OPTN VCP
12 amyotrophic lateral sclerosis 21 9.6 FUS OPTN VAPB VCP
13 motor neuron disease 9.6 FUS OPTN VAPB VCP
14 lateral sclerosis 9.5 FUS OPTN UBQLN2 VAPB VCP
15 amyotrophic lateral sclerosis 1 9.2 FUS OPTN UBQLN2 VAPA VAPB VCP

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



Diseases related to Amyotrophic Lateral Sclerosis Type 14

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis Type 14

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis Type 14

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

Genetic Tests for Amyotrophic Lateral Sclerosis Type 14

Anatomical Context for Amyotrophic Lateral Sclerosis Type 14

Publications for Amyotrophic Lateral Sclerosis Type 14

Variations for Amyotrophic Lateral Sclerosis Type 14

Expression for Amyotrophic Lateral Sclerosis Type 14

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

Pathways for Amyotrophic Lateral Sclerosis Type 14

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

# Super pathways Score Top Affiliating Genes
1 10.63 GABARAPL2 OPTN
2 10.61 GABARAPL1 GABARAPL2 OPTN

GO Terms for Amyotrophic Lateral Sclerosis Type 14

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 9.91 ASNA1 FAF1 FUS GABARAPL1 GABARAPL2 OPTN
2 endoplasmic reticulum GO:0005783 9.85 ASNA1 GABARAPL1 VAPA VAPB VCP
3 endoplasmic reticulum membrane GO:0005789 9.78 ASNA1 VAPA VAPB VCP
4 cytoplasmic vesicle GO:0031410 9.73 GABARAPL1 GABARAPL2 OPTN UBQLN2
5 Golgi membrane GO:0000139 9.67 GABARAPL2 OPTN VAPA VAPB
6 autophagosome membrane GO:0000421 9.4 GABARAPL1 GABARAPL2
7 perinuclear region of cytoplasm GO:0048471 9.35 FAF1 FUS OPTN VAPA VCP
8 endoplasmic reticulum exit site GO:0070971 9.32 VAPA VAPB
9 VCP-NPL4-UFD1 AAA ATPase complex GO:0034098 9.16 FAF1 VCP
10 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 14)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.61 VAPA VAPB VCP
2 ubiquitin-dependent ERAD pathway GO:0030433 9.54 UBQLN2 VCP
3 autophagosome assembly GO:0000045 9.52 GABARAPL1 GABARAPL2
4 sphingolipid biosynthetic process GO:0030148 9.51 VAPA VAPB
5 macroautophagy GO:0016236 9.5 GABARAPL1 GABARAPL2 VCP
6 endoplasmic reticulum unfolded protein response GO:0030968 9.49 VAPB VCP
7 autophagy of mitochondrion GO:0000422 9.48 GABARAPL1 GABARAPL2
8 endoplasmic reticulum organization GO:0007029 9.46 VAPA VAPB
9 positive regulation of protein complex assembly GO:0031334 9.4 FAF1 VCP
10 cellular response to nitrogen starvation GO:0006995 9.37 GABARAPL1 GABARAPL2
11 cell death GO:0008219 9.33 FAF1 OPTN VAPA
12 COPII-coated vesicle budding GO:0090114 9.26 VAPA VAPB
13 autophagosome maturation GO:0097352 9.13 GABARAPL1 GABARAPL2 VCP
14 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 10.07 ASNA1 FAF1 FUS GABARAPL1 GABARAPL2 OPTN

Sources for Amyotrophic Lateral Sclerosis Type 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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