Amyotrophic Lateral Sclerosis Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | FIG4/9896 | FIG4 phosphoinositide 5-phosphatase | 6q21 | Chr6, NC_000006.12 (109691296..109825426) |
134131 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SETX/23064 | senataxin | 9q34.13 | Chr9, NC_000009.12 (132261356..132356744, complement) |
95389 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | ALS2/57679 | alsin Rho guanine nucleotide exchange factor ALS2 | 2q33.1 | Chr2, NC_000002.12 (201700267..201780933, complement) |
80667 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | VAPB/9217 | VAMP associated protein B and C | 20q13.32 | Chr20, NC_000020.11 (58389229..58451101) |
61873 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | TRPM7/54822 | transient receptor potential cation channel subfamily M member 7 | 15q21.2 | Chr15, NC_000015.10 (50557158..50686797, complement) |
129640 nt | 39 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | TARDBP/23435 | TAR DNA binding protein | 1p36.22 | Chr1, NC_000001.11 (11012654..11030528) |
17875 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | OPTN/10133 | optineurin | 10p13 | Chr10, NC_000010.11 (13100082..13138308) |
38227 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | DCTN1/1639 | dynactin subunit 1 | 2p13.1 | Chr2, NC_000002.12 (74361155..74391866, complement) |
30712 nt | 32 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | PRPH/5630 | peripherin | 12q13.12 | Chr12, NC_000012.12 (49295147..49298686) |
3540 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | MATR3/9782 | matrin 3 | 5q31.2 | Chr5, NC_000005.10 (139274101..139331677) |
57577 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | SOD1/6647 | superoxide dismutase 1 | 21q22.11 | Chr21, NC_000021.9 (31659693..31668931) |
9239 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | FUS/2521 | FUS RNA binding protein | 16p11.2 | Chr16, NC_000016.10 (31180110..31194871) |
14762 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | ANG/283 | angiogenin | 14q11.2 | Chr14, NC_000014.9 (20684177..20694186) |
10010 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | UBQLN2/29978 | ubiquilin 2 | Xp11.21 | ChrX, NC_000023.11 (56563627..56567868) |
4242 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | SIGMAR1/10280 | sigma non-opioid intracellular receptor 1 | 9p13.3 | Chr9, NC_000009.12 (34634722..34637787, complement) |
3066 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | PFN1/5216 | profilin 1 | 17p13.2 | Chr17, NC_000017.11 (4945652..4948530, complement) |
2879 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | HNRNPA1/3178 | heterogeneous nuclear ribonucleoprotein A1 | 12q13.13 | Chr12, NC_000012.12 (54280726..54287087) |
6362 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | TUBA4A/7277 | tubulin alpha 4a | 2q35 | Chr2, NC_000002.12 (219249710..219254740, complement) |
5031 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | NEK1/4750 | NIMA related kinase 1 | 4q33 | Chr4, NC_000004.12 (169392809..169612583, complement) |
219775 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | ANXA11/311 | annexin A11 | 10q22.3 | Chr10, NC_000010.11 (80150889..80205808, complement) |
54920 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | KIF5A/3798 | kinesin family member 5A | 12q13.3 | Chr12, NC_000012.12 (57550044..57586633) |
36590 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | SPG11/80208 | SPG11 vesicle trafficking associated, spatacsin | 15q21.1 | Chr15, NC_000015.10 (44562696..44663662, complement) |
100967 nt | 42 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | ERBB4/2066 | erb-b2 receptor tyrosine kinase 4 | 2q34 | Chr2, NC_000002.12 (211375717..212538802, complement) |
1163086 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | PARK7/11315 | Parkinsonism associated deglycase | 1p36.23 | Chr1, NC_000001.11 (7961711..7985505) |
23795 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 25 | DAO/1610 | D-amino acid oxidase | 12q24.11 | Chr12, NC_000012.12 (108880092..108901043) |
20952 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 26 | CHRNA3/1136 | cholinergic receptor nicotinic alpha 3 subunit | 15q25.1 | Chr15, NC_000015.10 (78593052..78620996, complement) |
27945 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 27 | SS18L1/26039 | SS18L1 subunit of BAF chromatin remodeling complex | 20q13.33 | Chr20, NC_000020.11 (62143769..62182514) |
38746 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 28 | EWSR1/2130 | EWS RNA binding protein 1 | 22q12.2 | Chr22, NC_000022.11 (29268268..29300521) |
32254 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 29 | NEFH/4744 | neurofilament heavy chain | 22q12.2 | Chr22, NC_000022.11 (29480218..29491390) |
11173 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 30 | VCP/7415 | valosin containing protein | 9p13.3 | Chr9, NC_000009.12 (35056064..35072625, complement) |
16562 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 31 | TIA1/7072 | TIA1 cytotoxic granule associated RNA binding protein | 2p13.3 | Chr2, NC_000002.12 (70209444..70248793, complement) |
39350 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 32 | SPTLC1/10558 | serine palmitoyltransferase long chain base subunit 1 | 9q22.31 | Chr9, NC_000009.12 (92031147..92115413, complement) |
84267 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 33 | C9orf72/203228 | C9orf72-SMCR8 complex subunit | 9p21.2 | Chr9, NC_000009.12 (27546546..27573866, complement) |
27321 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 34 | UNC13A/23025 | unc-13 homolog A | 19p13.11 | Chr19, NC_000019.10 (17601336..17688354, complement) |
87019 nt | 44 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |