ALS21
MCID: AMY069
MIFTS: 42

Amyotrophic Lateral Sclerosis 21 (ALS21)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 21

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 21:

Name: Amyotrophic Lateral Sclerosis 21 57 75 29 6 73
Als21 57 12 75
Distal Myopathy with Vocal Cord Weakness 59 75
Amyotrophic Lateral Sclerosis Type 21 12 15
Vcpdm 59 75
Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy, Formerly; Vcpdm, Formerly 57
Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy, Formerly 57
Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy 75
Myopathy, Distal, 2, Formerly; Mpd2, Formerly 57
Vocal Cord and Pharyngeal Distal Myopathy 59
Myopathy, Distal, 2, Formerly 57
Matr3-Related Distal Myopathy 59
Myopathy, Distal 2 73
Distal Myopathy 2 75
Vcpdm, Formerly 57
Mpd2, Formerly 57
Mpd2 75

Characteristics:

Orphanet epidemiological data:

59
vocal cord and pharyngeal distal myopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
variable severity
can be slowly or rapidly progressive


HPO:

32
amyotrophic lateral sclerosis 21:
Onset and clinical course variable expressivity adult onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Amyotrophic Lateral Sclerosis 21

OMIM : 57 Amyotrophic lateral sclerosis-21 is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia (summary by Johnson et al., 2014). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). (606070)

MalaCards based summary : Amyotrophic Lateral Sclerosis 21, also known as als21, is related to distal myopathy with vocal cord weakness and muscle disorders, and has symptoms including upper motor neuron signs An important gene associated with Amyotrophic Lateral Sclerosis 21 is MATR3 (Matrin 3), and among its related pathways/superpathways is Neuroscience. Affiliated tissues include brain and bone, and related phenotypes are dysarthria and hyperreflexia

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the MATR3 gene on chromosome 5.

Genetics Home Reference : 25 Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.

UniProtKB/Swiss-Prot : 75 Amyotrophic lateral sclerosis 21: A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia.

Related Diseases for Amyotrophic Lateral Sclerosis 21

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 21 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 distal myopathy with vocal cord weakness 12.6
2 muscle disorders 10.2
3 progressive non-fluent aphasia 10.1 C9orf72 VCP
4 behavioral variant of frontotemporal dementia 10.1 C9orf72 VCP
5 miyoshi muscular dystrophy 10.1
6 myopathy 10.1
7 neuronopathy, distal hereditary motor, type viia 10.0
8 spinal muscular atrophy 10.0
9 muscular atrophy 10.0
10 distal hereditary motor neuropathy type 7 10.0
11 juvenile amyotrophic lateral sclerosis 10.0 FUS SETX
12 apraxia 10.0 C9orf72 SETX
13 postpoliomyelitis syndrome 9.9 TARDBP VCP
14 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.9 TARDBP VCP
15 semantic dementia 9.9 C9orf72 TARDBP
16 progressive muscular atrophy 9.9 C9orf72 TARDBP
17 paget's disease of bone 9.9 OPTN VCP
18 perry syndrome 9.9 C9orf72 TARDBP
19 inclusion body myositis 9.9 TARDBP VCP
20 expressive language disorder 9.9 FUS TARDBP
21 lethal congenital contracture syndrome 1 9.8 FUS TARDBP
22 supranuclear palsy, progressive, 1 9.8 C9orf72 TARDBP
23 anterior horn cell disease 9.8 FUS TARDBP
24 pick disease of brain 9.8 FUS TARDBP
25 muscular disease 9.8 MATR3 TARDBP VCP
26 brown-vialetto-van laere syndrome 9.7 C9orf72 SOD1 TARDBP
27 amyotrophic lateral sclerosis type 6 9.7 FUS SETX TARDBP
28 spinocerebellar ataxia 31 9.7 FUS SETX TARDBP
29 speech and communication disorders 9.7 C9orf72 TARDBP
30 dementia 9.6 C9orf72 FUS TARDBP VCP
31 amyotrophic lateral sclerosis 11 9.6 FUS OPTN SETX TARDBP
32 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.6 C9orf72 FUS TARDBP VCP
33 amyotrophic lateral sclerosis 7 9.6 FUS OPTN SETX TARDBP
34 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.6 FUS OPTN SETX TARDBP
35 amyotrophic lateral sclerosis 9 9.6 FUS OPTN SETX TARDBP
36 nervous system disease 9.6 C9orf72 OPTN SOD1 TARDBP
37 amyotrophic lateral sclerosis 18 9.5 C9orf72 FUS SOD1 TARDBP
38 amyotrophic lateral sclerosis type 14 9.4 FUS OPTN TARDBP VAPB VCP
39 frontotemporal dementia 9.4 C9orf72 FUS SOD1 TARDBP VCP
40 motor neuron disease 8.9 C9orf72 FUS OPTN SETX SOD1 TARDBP
41 amyotrophic lateral sclerosis 1 8.8 C9orf72 FUS MATR3 OPTN SETX SOD1
42 lateral sclerosis 8.8 C9orf72 FUS MATR3 OPTN SETX SOD1

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 21:



Diseases related to Amyotrophic Lateral Sclerosis 21

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 21

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
bulbar signs
amyotrophic lateral sclerosis
upper motor neuron signs
more
Respiratory:
respiratory insufficiency due to muscle weakness

Muscle Soft Tissue:
distal muscle weakness
shoulder weakness
onset of weakness in hands and feet
neuropathic or myopathic changes seen on emg
noninflammatory myopathy with rimmed vacuoles and atrophic fibers seen on muscle biopsy

Respiratory Nasopharynx:
pharyngeal muscle weakness

Head And Neck Eyes:
extraocular muscle weakness (in some patients)

Voice:
hypophonic, breathy voice
wet, gurgling, hoarse voice

Abdomen Gastrointestinal:
dysphagia

Respiratory Larynx:
aspiration
bowing of the vocal cords
vocal cord weakness
incomplete closure of the glottis

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Face:
bulbar weakness

Neurologic Peripheral Nervous System:
nerve conduction velocity (ncv) slowing (1 family)
distal sensory impairment (1 family)


Clinical features from OMIM:

606070

Human phenotypes related to Amyotrophic Lateral Sclerosis 21:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 hyperreflexia 32 HP:0001347
3 dysphagia 32 HP:0002015
4 respiratory insufficiency due to muscle weakness 32 HP:0002747
5 elevated serum creatine phosphokinase 32 HP:0003236
6 decreased nerve conduction velocity 32 HP:0000762
7 rimmed vacuoles 32 HP:0003805
8 bulbar signs 32 HP:0002483
9 amyotrophic lateral sclerosis 32 HP:0007354
10 dementia 32 occasional (7.5%) HP:0000726
11 hoarse voice 32 HP:0001609
12 aspiration 32 HP:0002835
13 distal muscle weakness 32 HP:0002460
14 bulbar palsy 32 HP:0001283
15 distal sensory impairment 32 occasional (7.5%) HP:0002936
16 abnormal upper motor neuron morphology 32 HP:0002127
17 shoulder girdle muscle weakness 32 HP:0003547
18 abnormal lower motor neuron morphology 32 HP:0002366
19 bowing of the vocal cords 32 HP:0008756
20 abnormality of the nasopharynx 32 HP:0001739

UMLS symptoms related to Amyotrophic Lateral Sclerosis 21:


upper motor neuron signs

GenomeRNAi Phenotypes related to Amyotrophic Lateral Sclerosis 21 according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 MATR3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.66 SOD1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.66 MATR3 SOD1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.66 MATR3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.66 MATR3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.66 VCP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.66 VCP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.66 MATR3 SOD1 VCP
9 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.66 VCP
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 MATR3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.66 SOD1 VCP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.66 SOD1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.66 SOD1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.66 SOD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.66 SOD1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.66 SOD1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.66 VCP
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 MATR3

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 21:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.5 C9orf72 MATR3 SETX SOD1 TARDBP VAPB
2 immune system MP:0005387 9.1 C9orf72 OPTN SETX SOD1 TARDBP VCP

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 21

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 21

Genetic Tests for Amyotrophic Lateral Sclerosis 21

Genetic tests related to Amyotrophic Lateral Sclerosis 21:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 21 29 MATR3

Anatomical Context for Amyotrophic Lateral Sclerosis 21

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 21:

41
Brain, Bone

Publications for Amyotrophic Lateral Sclerosis 21

Articles related to Amyotrophic Lateral Sclerosis 21:

# Title Authors Year
1
The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization. ( 29628183 )
2018

Variations for Amyotrophic Lateral Sclerosis 21

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 21:

75
# Symbol AA change Variation ID SNP ID
1 MATR3 p.Ser85Cys VAR_063421 rs121434591
2 MATR3 p.Phe115Cys VAR_071078 rs587777300
3 MATR3 p.Thr622Ala VAR_071080 rs587777301

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 21:

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 MATR3 NM_018834.5(MATR3): c.254C> G (p.Ser85Cys) single nucleotide variant Pathogenic rs121434591 GRCh37 Chromosome 5, 138643358: 138643358
2 MATR3 NM_018834.5(MATR3): c.254C> G (p.Ser85Cys) single nucleotide variant Pathogenic rs121434591 GRCh38 Chromosome 5, 139307669: 139307669
3 MATR3 NM_199189.2(MATR3): c.344T> G (p.Phe115Cys) single nucleotide variant Pathogenic rs587777300 GRCh38 Chromosome 5, 139307759: 139307759
4 MATR3 NM_199189.2(MATR3): c.344T> G (p.Phe115Cys) single nucleotide variant Pathogenic rs587777300 GRCh37 Chromosome 5, 138643448: 138643448
5 MATR3 NM_199189.2(MATR3): c.1864A> G (p.Thr622Ala) single nucleotide variant Pathogenic rs587777301 GRCh38 Chromosome 5, 139322683: 139322683
6 MATR3 NM_199189.2(MATR3): c.1864A> G (p.Thr622Ala) single nucleotide variant Pathogenic rs587777301 GRCh37 Chromosome 5, 138658372: 138658372
7 MATR3 NM_199189.2(MATR3): c.460C> T (p.Pro154Ser) single nucleotide variant Pathogenic rs587777302 GRCh38 Chromosome 5, 139307875: 139307875
8 MATR3 NM_199189.2(MATR3): c.460C> T (p.Pro154Ser) single nucleotide variant Pathogenic rs587777302 GRCh37 Chromosome 5, 138643564: 138643564
9 MATR3 NM_199189.2(MATR3): c.1602+6A> G single nucleotide variant Benign/Likely benign rs80036770 GRCh38 Chromosome 5, 139319507: 139319507
10 MATR3 NM_199189.2(MATR3): c.1602+6A> G single nucleotide variant Benign/Likely benign rs80036770 GRCh37 Chromosome 5, 138655196: 138655196
11 MATR3 NM_199189.2(MATR3): c.2283C> T (p.Asn761=) single nucleotide variant Benign/Likely benign rs189752689 GRCh37 Chromosome 5, 138661263: 138661263
12 MATR3 NM_199189.2(MATR3): c.2283C> T (p.Asn761=) single nucleotide variant Benign/Likely benign rs189752689 GRCh38 Chromosome 5, 139325574: 139325574
13 MATR3 NM_199189.2(MATR3): c.2360A> G (p.Asn787Ser) single nucleotide variant Likely benign rs148402819 GRCh37 Chromosome 5, 138661340: 138661340
14 MATR3 NM_199189.2(MATR3): c.2360A> G (p.Asn787Ser) single nucleotide variant Likely benign rs148402819 GRCh38 Chromosome 5, 139325651: 139325651
15 MATR3 NM_199189.2(MATR3): c.2504A> G (p.Asn835Ser) single nucleotide variant Uncertain significance rs201165929 GRCh37 Chromosome 5, 138665044: 138665044
16 MATR3 NM_199189.2(MATR3): c.2504A> G (p.Asn835Ser) single nucleotide variant Uncertain significance rs201165929 GRCh38 Chromosome 5, 139329355: 139329355
17 MATR3 NM_199189.2(MATR3): c.291A> G (p.Leu97=) single nucleotide variant Benign/Likely benign rs147239107 GRCh37 Chromosome 5, 138643395: 138643395
18 MATR3 NM_199189.2(MATR3): c.291A> G (p.Leu97=) single nucleotide variant Benign/Likely benign rs147239107 GRCh38 Chromosome 5, 139307706: 139307706
19 MATR3 NM_199189.2(MATR3): c.1347C> T (p.Ala449=) single nucleotide variant Benign/Likely benign rs141986556 GRCh37 Chromosome 5, 138654635: 138654635
20 MATR3 NM_199189.2(MATR3): c.1347C> T (p.Ala449=) single nucleotide variant Benign/Likely benign rs141986556 GRCh38 Chromosome 5, 139318946: 139318946
21 MATR3 NM_199189.2(MATR3): c.2521C> T (p.Arg841Cys) single nucleotide variant Uncertain significance rs781050726 GRCh37 Chromosome 5, 138665061: 138665061
22 MATR3 NM_199189.2(MATR3): c.2521C> T (p.Arg841Cys) single nucleotide variant Uncertain significance rs781050726 GRCh38 Chromosome 5, 139329372: 139329372
23 MATR3 NM_199189.2(MATR3): c.15C> T (p.Phe5=) single nucleotide variant Likely benign rs184609870 GRCh37 Chromosome 5, 138643119: 138643119
24 MATR3 NM_199189.2(MATR3): c.15C> T (p.Phe5=) single nucleotide variant Likely benign rs184609870 GRCh38 Chromosome 5, 139307430: 139307430
25 MATR3 NM_199189.2(MATR3): c.1893C> T (p.Ser631=) single nucleotide variant Benign/Likely benign rs143527811 GRCh37 Chromosome 5, 138658401: 138658401
26 MATR3 NM_199189.2(MATR3): c.1893C> T (p.Ser631=) single nucleotide variant Benign/Likely benign rs143527811 GRCh38 Chromosome 5, 139322712: 139322712
27 MATR3 NM_199189.2(MATR3): c.190T> C (p.Leu64=) single nucleotide variant Likely benign rs775134951 GRCh38 Chromosome 5, 139307605: 139307605
28 MATR3 NM_199189.2(MATR3): c.190T> C (p.Leu64=) single nucleotide variant Likely benign rs775134951 GRCh37 Chromosome 5, 138643294: 138643294
29 MATR3 NM_199189.2(MATR3): c.1912G> C (p.Asp638His) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 139322731: 139322731
30 MATR3 NM_199189.2(MATR3): c.1912G> C (p.Asp638His) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 138658420: 138658420
31 MATR3 NM_199189.2(MATR3): c.2191T> C (p.Leu731=) single nucleotide variant Benign rs149714542 GRCh38 Chromosome 5, 139325482: 139325482
32 MATR3 NM_199189.2(MATR3): c.2191T> C (p.Leu731=) single nucleotide variant Benign rs149714542 GRCh37 Chromosome 5, 138661171: 138661171
33 MATR3 NM_199189.2(MATR3): c.793C> A (p.Leu265Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 139308208: 139308208
34 MATR3 NM_199189.2(MATR3): c.793C> A (p.Leu265Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 138643897: 138643897
35 MATR3 NM_199189.2(MATR3): c.1377G> A (p.Ala459=) single nucleotide variant Likely benign rs147356202 GRCh38 Chromosome 5, 139318976: 139318976
36 MATR3 NM_199189.2(MATR3): c.1377G> A (p.Ala459=) single nucleotide variant Likely benign rs147356202 GRCh37 Chromosome 5, 138654665: 138654665
37 MATR3 NM_199189.2(MATR3): c.1116A> G (p.Pro372=) single nucleotide variant Likely benign rs375938101 GRCh37 Chromosome 5, 138651864: 138651864
38 MATR3 NM_199189.2(MATR3): c.1116A> G (p.Pro372=) single nucleotide variant Likely benign rs375938101 GRCh38 Chromosome 5, 139316175: 139316175
39 MATR3 NM_199189.2(MATR3): c.2038G> A (p.Asp680Asn) single nucleotide variant Uncertain significance rs752161415 GRCh38 Chromosome 5, 139322857: 139322857
40 MATR3 NM_199189.2(MATR3): c.2038G> A (p.Asp680Asn) single nucleotide variant Uncertain significance rs752161415 GRCh37 Chromosome 5, 138658546: 138658546
41 MATR3 NM_199189.2(MATR3): c.2494-6T> A single nucleotide variant Likely benign rs376395410 GRCh38 Chromosome 5, 139329339: 139329339
42 MATR3 NM_199189.2(MATR3): c.2494-6T> A single nucleotide variant Likely benign rs376395410 GRCh37 Chromosome 5, 138665028: 138665028
43 MATR3 NM_199189.2(MATR3): c.322G> T (p.Ala108Ser) single nucleotide variant Uncertain significance rs745440760 GRCh37 Chromosome 5, 138643426: 138643426
44 MATR3 NM_199189.2(MATR3): c.322G> T (p.Ala108Ser) single nucleotide variant Uncertain significance rs745440760 GRCh38 Chromosome 5, 139307737: 139307737
45 MATR3 NM_199189.2(MATR3): c.1953T> C (p.Leu651=) single nucleotide variant Likely benign rs770765421 GRCh37 Chromosome 5, 138658461: 138658461
46 MATR3 NM_199189.2(MATR3): c.1953T> C (p.Leu651=) single nucleotide variant Likely benign rs770765421 GRCh38 Chromosome 5, 139322772: 139322772
47 MATR3 NM_199189.2(MATR3): c.2161G> A (p.Glu721Lys) single nucleotide variant Uncertain significance rs764645698 GRCh38 Chromosome 5, 139325452: 139325452
48 MATR3 NM_199189.2(MATR3): c.2161G> A (p.Glu721Lys) single nucleotide variant Uncertain significance rs764645698 GRCh37 Chromosome 5, 138661141: 138661141
49 MATR3 NM_199189.2(MATR3): c.1896T> C (p.Gly632=) single nucleotide variant Likely benign rs202208841 GRCh37 Chromosome 5, 138658404: 138658404
50 MATR3 NM_199189.2(MATR3): c.1896T> C (p.Gly632=) single nucleotide variant Likely benign rs202208841 GRCh38 Chromosome 5, 139322715: 139322715

Expression for Amyotrophic Lateral Sclerosis 21

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 21.

Pathways for Amyotrophic Lateral Sclerosis 21

Pathways related to Amyotrophic Lateral Sclerosis 21 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.33 OPTN SOD1 TARDBP

GO Terms for Amyotrophic Lateral Sclerosis 21

Cellular components related to Amyotrophic Lateral Sclerosis 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.73 FUS OPTN SETX SOD1 TARDBP VCP
2 cytoplasm GO:0005737 9.56 C9orf72 FUS OPTN SETX SOD1 TARDBP
3 autophagosome GO:0005776 9.32 C9orf72 OPTN
4 nucleus GO:0005634 9.23 C9orf72 FUS MATR3 OPTN SETX SOD1
5 cytoplasmic stress granule GO:0010494 9.16 C9orf72 VCP

Biological processes related to Amyotrophic Lateral Sclerosis 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of protein phosphorylation GO:0001933 9.26 C9orf72 TARDBP
2 double-strand break repair GO:0006302 9.16 SETX VCP
3 endoplasmic reticulum unfolded protein response GO:0030968 8.96 VAPB VCP
4 autophagy GO:0006914 8.8 C9orf72 OPTN VCP

Molecular functions related to Amyotrophic Lateral Sclerosis 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.81 C9orf72 FUS MATR3 OPTN SETX SOD1
2 identical protein binding GO:0042802 9.17 FUS MATR3 OPTN SETX SOD1 TARDBP
3 polyubiquitin modification-dependent protein binding GO:0031593 8.96 OPTN VCP

Sources for Amyotrophic Lateral Sclerosis 21

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
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