ALS21
MCID: AMY069
MIFTS: 44

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 58 76 30 6 74
Als21 58 12 76
Distal Myopathy with Vocal Cord Weakness 60 76
Amyotrophic Lateral Sclerosis Type 21 12 15
Vcpdm 60 76
Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy, Formerly; Vcpdm, Formerly 58
Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy, Formerly 58
Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy 76
Myopathy, Distal, 2, Formerly; Mpd2, Formerly 58
Sclerosis, Lateral, Amyotrophic, Type 21 ) 41
Vocal Cord and Pharyngeal Distal Myopathy 60
Myopathy, Distal, 2, Formerly 58
Matr3-Related Distal Myopathy 60
Myopathy, Distal 2 74
Distal Myopathy 2 76
Vcpdm, Formerly 58
Mpd2, Formerly 58
Mpd2 76

Characteristics:

Orphanet epidemiological data:

60
vocal cord and pharyngeal distal myopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
amyotrophic lateral sclerosis 21:
Onset and clinical course variable expressivity adult onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Amyotrophic Lateral Sclerosis 21

OMIM : 58 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). The drugs Silicon and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include 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 : 26 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 : 76 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 30)
# Related Disease Score Top Affiliating Genes
1 distal myopathy with vocal cord weakness 12.7
2 muscle disorders 10.2
3 miyoshi muscular dystrophy 10.1
4 myopathy 10.1
5 neuronopathy, distal hereditary motor, type viia 10.1
6 spinal muscular atrophy 10.1
7 muscular atrophy 10.1
8 distal hereditary motor neuropathies 10.1
9 distal hereditary motor neuropathy type 7 10.1
10 progressive non-fluent aphasia 9.9 C9orf72 VCP
11 behavioral variant of frontotemporal dementia 9.9 C9orf72 VCP
12 brown-vialetto-van laere syndrome 9.9 C9orf72 SOD1
13 paget's disease of bone 9.8 OPTN VCP
14 amyotrophic lateral sclerosis type 6 9.8 FUS SETX
15 juvenile amyotrophic lateral sclerosis 9.8 FUS SETX
16 spinocerebellar ataxia 31 9.7 FUS SETX
17 apraxia 9.7 C9orf72 SETX
18 amyotrophic lateral sclerosis 11 9.7 FUS OPTN SETX
19 amyotrophic lateral sclerosis 7 9.6 FUS OPTN SETX
20 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.6 FUS OPTN SETX
21 nervous system disease 9.6 C9orf72 OPTN SOD1
22 amyotrophic lateral sclerosis 9 9.6 FUS OPTN SETX
23 amyotrophic lateral sclerosis 18 9.5 C9orf72 FUS SOD1
24 dementia 9.5 C9orf72 FUS VCP
25 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.5 C9orf72 FUS VCP
26 amyotrophic lateral sclerosis type 14 9.4 FUS OPTN VAPB VCP
27 frontotemporal dementia 9.2 C9orf72 FUS SOD1 VCP
28 motor neuron disease 8.5 C9orf72 FUS OPTN SETX SOD1 VAPB
29 lateral sclerosis 8.3 C9orf72 FUS MATR3 OPTN SETX SOD1
30 amyotrophic lateral sclerosis 1 8.3 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

Human phenotypes related to Amyotrophic Lateral Sclerosis 21:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
2 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
3 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
4 respiratory insufficiency due to muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002747
5 emg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0003457
6 rimmed vacuoles 60 33 frequent (33%) Frequent (79-30%) HP:0003805
7 amyotrophic lateral sclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0007354
8 nasal speech 60 33 frequent (33%) Frequent (79-30%) HP:0001611
9 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
10 hoarse voice 60 33 frequent (33%) Frequent (79-30%) HP:0001609
11 weak voice 60 33 frequent (33%) Frequent (79-30%) HP:0001621
12 exercise-induced myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003738
13 distal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002460
14 vocal cord paresis 60 33 frequent (33%) Frequent (79-30%) HP:0001604
15 bulbar palsy 60 33 frequent (33%) Frequent (79-30%) HP:0001283
16 unsteady gait 60 33 frequent (33%) Frequent (79-30%) HP:0002317
17 abnormality of the calf musculature 60 33 frequent (33%) Frequent (79-30%) HP:0001430
18 aspiration 60 33 frequent (33%) Frequent (79-30%) HP:0002835
19 imperfect vocal cord adduction 60 33 frequent (33%) Frequent (79-30%) HP:0005934
20 bowing of the vocal cords 60 33 frequent (33%) Frequent (79-30%) HP:0008756
21 ankle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0031374
22 abnormality of musculature of pharynx 60 33 frequent (33%) Frequent (79-30%) HP:0430015
23 mildly elevated creatine kinase 33 frequent (33%) HP:0008180
24 dementia 60 33 occasional (7.5%) Very rare (<4-1%) HP:0000726
25 distal sensory impairment 60 33 occasional (7.5%) Very rare (<4-1%) HP:0002936
26 shoulder girdle muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003547
27 abnormality of the extraocular muscles 60 33 occasional (7.5%) Occasional (29-5%) HP:0008049
28 distal upper limb amyotrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007149
29 decreased nerve conduction velocity 60 33 very rare (1%) Very rare (<4-1%) HP:0000762
30 bulbar signs 33 HP:0002483
31 mildly elevated creatine phosphokinase 60 Frequent (79-30%)
32 inflammatory myopathy 60 Excluded (0%)
33 abnormal upper motor neuron morphology 33 HP:0002127
34 abnormal lower motor neuron morphology 33 HP:0002366
35 elevated serum creatine kinase 33 HP:0003236
36 abnormality of the nasopharynx 33 HP:0001739

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
hyperreflexia
bulbar signs
amyotrophic lateral sclerosis
upper motor neuron signs
more
Respiratory:
respiratory insufficiency due to muscle weakness

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

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

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

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

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:

27 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.68 MATR3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.68 SOD1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.68 MATR3 SOD1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.68 MATR3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.68 MATR3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.68 VCP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.68 VCP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.68 MATR3 SOD1 VCP
9 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.68 VCP
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.68 MATR3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.68 SOD1 VCP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.68 SOD1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.68 SOD1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.68 SOD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.68 SOD1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.68 SOD1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.68 SOD1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.68 VCP
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 MATR3

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 21:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.1 C9orf72 MATR3 SETX SOD1 VAPB VCP

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 21

Drugs for Amyotrophic Lateral Sclerosis 21 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational Not Applicable 7440-21-3 4082203
2 Micronutrients Not Applicable
3 Nutrients Not Applicable
4 Pharmaceutical Solutions Not Applicable
5 Trace Elements Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Clinical and Subjective Performance of Three Different MPDS With Silicon Hydrogel Lenses Completed NCT01665612 Not Applicable

Search 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 30 MATR3

Anatomical Context for Amyotrophic Lateral Sclerosis 21

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 21:

42
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
2
Phenotype of matrin-3-related distal myopathy in 16 German patients. ( 25154462 )
2014
3
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. ( 24686783 )
2014
4
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. ( 19344878 )
2009
5
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. ( 9837826 )
1998

Variations for Amyotrophic Lateral Sclerosis 21

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

76
# 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 GRCh38 Chromosome 5, 139307706: 139307706
18 MATR3 NM_199189.2(MATR3): c.291A> G (p.Leu97=) single nucleotide variant Benign/Likely benign rs147239107 GRCh37 Chromosome 5, 138643395: 138643395
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 GRCh38 Chromosome 5, 139307430: 139307430
24 MATR3 NM_199189.2(MATR3): c.15C> T (p.Phe5=) single nucleotide variant Likely benign rs184609870 GRCh37 Chromosome 5, 138643119: 138643119
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 GRCh37 Chromosome 5, 138643294: 138643294
28 MATR3 NM_199189.2(MATR3): c.190T> C (p.Leu64=) single nucleotide variant Likely benign rs775134951 GRCh38 Chromosome 5, 139307605: 139307605
29 MATR3 NM_199189.2(MATR3): c.1912G> C (p.Asp638His) single nucleotide variant Uncertain significance rs1554148872 GRCh37 Chromosome 5, 138658420: 138658420
30 MATR3 NM_199189.2(MATR3): c.1912G> C (p.Asp638His) single nucleotide variant Uncertain significance rs1554148872 GRCh38 Chromosome 5, 139322731: 139322731
31 MATR3 NM_199189.2(MATR3): c.2191T> C (p.Leu731=) single nucleotide variant Benign rs149714542 GRCh37 Chromosome 5, 138661171: 138661171
32 MATR3 NM_199189.2(MATR3): c.2191T> C (p.Leu731=) single nucleotide variant Benign rs149714542 GRCh38 Chromosome 5, 139325482: 139325482
33 MATR3 NM_199189.2(MATR3): c.793C> A (p.Leu265Ile) single nucleotide variant Uncertain significance rs1554146560 GRCh37 Chromosome 5, 138643897: 138643897
34 MATR3 NM_199189.2(MATR3): c.793C> A (p.Leu265Ile) single nucleotide variant Uncertain significance rs1554146560 GRCh38 Chromosome 5, 139308208: 139308208
35 MATR3 NM_199189.2(MATR3): c.1377G> A (p.Ala459=) single nucleotide variant Likely benign rs147356202 GRCh37 Chromosome 5, 138654665: 138654665
36 MATR3 NM_199189.2(MATR3): c.1377G> A (p.Ala459=) single nucleotide variant Likely benign rs147356202 GRCh38 Chromosome 5, 139318976: 139318976
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 GRCh38 Chromosome 5, 139307737: 139307737
44 MATR3 NM_199189.2(MATR3): c.322G> T (p.Ala108Ser) single nucleotide variant Uncertain significance rs745440760 GRCh37 Chromosome 5, 138643426: 138643426
45 MATR3 NM_199189.2(MATR3): c.1953T> C (p.Leu651=) single nucleotide variant Likely benign rs770765421 GRCh38 Chromosome 5, 139322772: 139322772
46 MATR3 NM_199189.2(MATR3): c.1953T> C (p.Leu651=) single nucleotide variant Likely benign rs770765421 GRCh37 Chromosome 5, 138658461: 138658461
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 GRCh38 Chromosome 5, 139322715: 139322715
50 MATR3 NM_199189.2(MATR3): c.1896T> C (p.Gly632=) single nucleotide variant Likely benign rs202208841 GRCh37 Chromosome 5, 138658404: 138658404

Expression for Amyotrophic Lateral Sclerosis 21

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

Pathways for Amyotrophic Lateral Sclerosis 21

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 cytoplasm GO:0005737 9.8 C9orf72 FUS OPTN SETX SOD1 VAPB
2 nucleus GO:0005634 9.7 C9orf72 FUS MATR3 OPTN SETX SOD1
3 autophagosome GO:0005776 8.96 C9orf72 OPTN
4 cytoplasmic stress granule GO:0010494 8.62 C9orf72 VCP

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to oxidative stress GO:0034599 9.26 SETX SOD1
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 9.76 C9orf72 FUS MATR3 OPTN SETX SOD1
2 identical protein binding GO:0042802 9.1 FUS MATR3 OPTN SETX SOD1 VCP
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 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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