Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Amyotrophic lateral sclerosis 1 (dominant) - (AD) | 12.51 | | | Superoxide dismutase 1, soluble
|
|
| | * Amyotrophic lateral sclerosis 1 - ALS1 | | * Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS |
|
Amyotrophic lateral sclerosis 1 (recessive) - (AR) | 12.52 | | | Superoxide dismutase 1, soluble
|
|
| | * Amyotrophic lateral sclerosis 1 - ALS1 | | * Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS |
|
Amyotrophic lateral sclerosis 2 juvenile - (AR) | 12.53 | | | Alsin Rho guanine nucleotide exchange factor 2
|
|
| | * Spastic paralysis, infantile onset ascending - IAHSP | | * Amyotrophic lateral sclerosis, juvenile - ALS2 | | * Primary lateral sclerosis, juvenile - PLSJ |
|
Amyotrophic lateral sclerosis 3 - (AR) | 12.54 | | | | * Amyotrophic lateral sclerosis - ALS3 |
|
Amyotrophic lateral sclerosis 4 - (AD) | 12.55 | | | | * Neuropathy, distal hereditary motor, with pyramidal features - ALS4 | | * Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 | | * Spinocerebellar ataxia with axonal neuropathy type 2 - SCAN2 |
|
Amyotrophic lateral sclerosis 5 - (AD) | 12.56 | | | SPG11 vesicle trafficking associated, Spatacsin
|
|
| | * Spastic paraplegia 11 - SPG11 | | * Charcot-Marie-Tooth neuropathy Type 2X - CMT2X | | * Amyotrophic lateral sclerosis 5 - ALS5 |
|
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia - (AD) | 12.57 | | | Fusion (involved in t(12;16) in malignant liposarcoma)
|
|
| | * Amyotrophic lateral sclerosis - ALS6 |
|
Amyotrophic lateral sclerosis 7 - (AD) | 12.58 | | | | * Amyotrophic lateral sclerosis - ALS7 |
|
Amyotrophic lateral sclerosis 8 - (AD) | 12.59 | | | Vesicle-associated membrane protein-associated protein B and C
|
|
| | * Spinal muscular atrophy, late-onset, Finkel type - SMAFK | | * Amyotrophic lateral sclerosis - ALS8 |
|
Amyotrophic lateral sclerosis 9 - (AD) | 12.60 | | | | * amyotrophic lateral sclerosis 9 - ALS9 |
|
Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia - (AD) | 12.61 | | | | * amyotrophic lateral sclerosis 10 - ALS10 |
|
Amyotrophic lateral sclerosis 11 - (AD) | 12.62 | | | Sac domain-containing inositol phosphatase 3
|
|
| | * charcot-marie-tooth disease, type 4j - CMT4J | | * Amyotrophic lateral sclerosis 11 - ALS11 |
|
Amyotrophic lateral sclerosis 12, with or without frontotemporal dementia - (AD, AR) | 12.63 | | | | * Amyotrophic lateral sclerosis 12 - ALS12 |
|
Amyotrophic lateral sclerosis 13, susceptibility to - (AD) | 12.64 | | | | * Spinocerebellar ataxia 2 - SCA2 | | * Olivopontocerebellar atrophy II - OPCA | | * Amyotrophic lateral sclerosis 13 - ALS13 |
|
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - (AD) | 12.65 | | | Valosin-containing protein
|
|
| | * Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1 | | * Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD | | * Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 | | * Scapuloperoneal muscular dystrophy and dropped head syndrome | | * Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y |
|
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - (AD) | 12.66 | | | | * Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15 |
|
Amyotrophic lateral sclerosis 16, juvenile - (AR) | 12.67 | | | Sigma non-opioid intracellular receptor 1
|
|
| | * spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 | | * Amyotrophic lateral sclerosis 16, juvenile - ALS16 |
|
Amyotrophic lateral sclerosis 17 - (AD) | 12.68 | | | Charged multivesicular body protein 2B
|
|
| | * Amyotrophic lateral sclerosis 17 - ALS17 |
|
Amyotrophic lateral sclerosis 18 - (AD) | 12.69 | | | | * Amyotrophic lateral sclerosis 18 - ALS18 |
|
Amyotrophic lateral sclerosis 19 - (AD) | 12.70 | | | V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4
|
|
| | * Amyotrophic lateral sclerosis 19 - ALS19 |
|
Amyotrophic lateral sclerosis 20 - (AD) | 12.71 | | | Heterogeneous nuclear ribonucleoprotein A1
|
|
| | * Isolated inclusion body myopathy - IBMPFD3 | | * Amyotrophic lateral sclerosis 20 - ALS20 |
|
Amyotrophic lateral sclerosis 21 - (AD) | 12.72 | | | | * Vocal cord and pharyngeal distal myopathy - VCPDM | | * Familial amyotrophic lateral sclerosis - ALS21 |
|
Amyotrophic lateral sclerosis 22, with or wothout frontotemporal dementia - (AD) | 12.73 | | | | * Amyotrophic lateral sclerosis 22 - ALS22 |
|
Amyotrophic lateral sclerosis 23 - (AD) | 12.74 | | | | * Amytrophic lateral sclerosis 23 - ALS23 | | * Inclusion body myopathy and brain white matter abnormalities - IBMWMA |
|
Amyotrophic lateral sclerosis 24, susceptibility to | 12.75 | | | Never in motosis gene A-related kinase 1
|
|
| | * Amyotrophic lateral sclerosis, susceptibility to, 24 - ALS24 |
|
Amyotrophic lateral sclerosis 25, susceptibility to - (AD) | 12.76 | | | | * Spastic paraplegia 10 - SPG10 | | * CMT2 related to KIF5A | | * Amyotrophic lateral sclerosis 25, susceptibility to - ALS25 |
|
Amyotrophic lateral sclerosis 28 - (AD) | 12.77 | | | Low density lipoprotein receptor-related protein 12
|
|
| | * Oculopharyngodistal myopathy 1 - OPDM1 | | * Amyotrophic lateral sclerosis 28 - ALS28 |
|
Susceptibility to amyotrophic lateral sclerosis related to NEFH - (AD) | 12.78 | | | Neurofilament, heavy polypeptide
|
|
| | * Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC | | * Charcot-Marie-Tooth disease, axonal, type 2CC - CMT2CC |
|
Amyotrophic lateral sclerosis related to peripherin, susceptibility to - (AD) | 12.79 | | | | * Susceptibility to amyotrophic lateral sclerosis related to peripherin |
|
Amyotrophic lateral sclerosis related to dynactin 1, susceptibility to - (AD) | 12.80 | | | | * Neuronopathy, distal hereditary motor, autosomal dominant 14 - HMND14 | | * Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 |
|
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 - (AD) | 12.81 | | | Chromosome 9 open reading frame 72
|
|
| | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS | | * Spinobulbar muscular atrophy (SBMA)
|
|
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 - (AD) | 12.82 | | | Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
|
|
| | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 | | * late-onset spinal motor neuronopathy, Jokela type - SMAJ |
|
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 - (AD) | 12.83 | | | | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 | | * Myopathy, distal, with rimmed vacuoles - DMRV | | * Welander-like distal myopathy |
|
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 - (AD) | 12.84 | | | | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS4 |
|
Amyotrophic lateral sclerosis - (AD) | 12.85 | | | Low Density Lipoprotein Receptor-Related Protein 10
|
|
| | * Amyotrophic lateral sclerosis |
|
Amyotrophic lateral sclerosis - (AD) | 12.86 | | | Serine palmitoyltransferase subunit 1
|
|
| | * Neuropathy, hereditary sensory, type 1 - HSN1 | | * Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 | | * Amyotrophic lateral sclerosis |
|