Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Spinal muscular atrophy , type I (Werdnig-Hoffman ) - (AR) | 12.1 | | | survival of motor neuron 1, telomeric
|
|
|  | * Kugelberg-Welander Syndrome - KWS | | * Spinal muscular atrophy 1 - SMA1 | | * Spinal muscular atrophy 2 - SMA2 | | * Spinal muscular atrophy 3 - SMA3 | | * Spinal muscular atrophy 4 - SMA4 |
|
| Spinal muscular atrophy, type II (intermediate) - (AR) | 12.2 | | | survival of motor neuron 1, telomeric
|
|
| | * Kugelberg-Welander Syndrome - KWS | | * Spinal muscular atrophy 1 - SMA1 | | * Spinal muscular atrophy 2 - SMA2 | | * Spinal muscular atrophy 3 - SMA3 | | * Spinal muscular atrophy 4 - SMA4 |
|
| Spinal muscular atrophy, type III (Kugelberg-Welander) - (AR) | 12.3 | | | survival of motor neuron 1, telomeric
|
|
| | * Kugelberg-Welander Syndrome - KWS | | * Spinal muscular atrophy 1 - SMA1 | | * Spinal muscular atrophy 2 - SMA2 | | * Spinal muscular atrophy 3 - SMA3 | | * Spinal muscular atrophy 4 - SMA4 |
|
| Spinal muscular atrophy, type IV, adult form - (AR) | 12.4 | | | survival of motor neuron 1, telomeric
|
|
| | * Kugelberg-Welander Syndrome - KWS | | * Spinal muscular atrophy 1 - SMA1 | | * Spinal muscular atrophy 2 - SMA2 | | * Spinal muscular atrophy 3 - SMA3 | | * Spinal muscular atrophy 4 - SMA4 |
|
| Spinal muscular atrophy, distal autosomal recessive 1 ( with respiratory distress) - (AR) | 12.5 | | | immunoglobulin mu binding protein 2
|
|
| | * Spinal muscular atrophy with respiratory distress - SMARD1 |
|
| Spinal muscular atrophy, distal autosomal recessive 2 - (AR) | 12.6 | | | | * spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 |
|
| Spinal muscular atrophy, distal autosomal recessive 3 - (AR) | 12.7 | | | | * spinal muscular atrophy, distal, autosomal recessive, 3 - DSMA3 |
|
| Spinal muscular atrophy, distal autosomal recessive 4 - (AR) | 12.8 | | | pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
| | * spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 |
|
| Neuronopathy, distal hereditary motor, type I - (AD) | 12.9 | | | | * Neuronopathy, distal hereditary motor, type I - HMN1 |
|
| Neuronopathy, distal hereditary motor, type IIA, juvenile - (AD) | 12.10 | | | heat shock 27kDa protein 8
|
|
| | * Charcot-Marie-Tooth neuropathy Type 2L - CMT2L | | * Neuropathy, distal hereditary motor, type II - HMN2A |
|
| Neuronopathy, distal hereditary motor, type II, adult juvenile - (AD) | 12.11 | | | heat shock 27kDa protein 1
|
|
| | * Charcot-Marie-Tooth neuropathy Type 2F - CMT2F | | * Neuropathy, distal hereditary motor, type IIB - HMN2B |
|
| Neuropathy, distal hereditary motor, type IIC - (AD) | 12.12 | | | | * neuronopathy, distal hereditary motor, type IIC - HMN2C |
|
| Distal neuronopathy with pyramidal tract signs - (AD) | 12.13 | | | | * Distal neuronopathy with pyramidal tract signs | | * Hereditary motor and sensory neuropathy V - HMSN5 |
|
| Distal spinal muscular atrophy, distal with upper limb predominance (type V) - (AD) | 12.14 | | | | * Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D | | * Neuropathy, distal hereditary motor type V - HMN V | | * Spinal muscular atrophy, distal, type V - DSMAV |
|
| Distal spinal muscular atrophy type V - (AD) | 12.15 | | | | * Neuronopathy, distal hereditary motor, type V - HMN5 | | * Spastic paraplegia 17 - SPG17 |
|
| Spinal muscular atrophy, distal, with vocal cord paralysis (Harper-Young) - (AD) | 12.16 | | | | * Motor neuropathy, distal, with vocal cord paralysis - HMN7 |
|
| Distal hereditary motor neuronopathy type VIIB - (AD) | 12.17 | | | | * Neuronopathy, distal hereditary motor, type VIIB - HMN7B |
|
| Spinal muscular atrophy, distal, X-linked - (XR) | 12.18 | | | ATPase, Cu++ transporting, alpha polypeptide
|
|
| | * Spinal muscular atrophy, distal, x-linked 3 - SMAX3 |
|
| Spinal muscular atrophy congenital non progressive of lower limbs - ( ) | 12.19 | | | transient receptor potential cation channel, subfamily V, member 4
|
|
| | * Scapuloperoneal spinal muscular atrophy - SPSMA | | * Spinal muscular atrophy congenital non progressive of lower limbs - SMAL | | * Spinal muscular atrophy, congenital benin, with contractures - SMAL |
|
| Scapuloperoneal spinal muscular atrophy - (AD) | 12.20 | | | transient receptor potential cation channel, subfamily V, member 4
|
|
| | * Scapuloperoneal spinal muscular atrophy - SPSMA | | * Spinal muscular atrophy congenital non progressive of lower limbs - SMAL | | * Spinal muscular atrophy, congenital benin, with contractures - SMAL |
|
| Familial amyotrophic lateral sclerosis - (AD) | 12.21 | | | superoxide dismutase 1, soluble
|
|
| | * Amyotrophic lateral sclerosis 1 - ALS1 | | * Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS |
|
| Familial amyotrophic lateral sclerosis (recessive) - (AR) | 12.22 | | | superoxide dismutase 1, soluble
|
|
| | * Amyotrophic lateral sclerosis 1 - ALS1 | | * Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS |
|
| Amyotrophic lateral sclerosis, juvenile - (AR) | 12.23 | | | | * Amyotrophic lateral sclerosis, juvenile - ALS2 | | * Primary lateral sclerosis, juvenile - PLSJ | | * Spastic paralysis, infantile onset ascending - IAHSP |
|
| Familial amyotrophic lateral sclerosis - (AR) | 12.24 | | | | * Amyotrophic lateral sclerosis - ALS3 |
|
| Familial amyotrophic lateral sclerosis - (AD) | 12.25 | | | | * ATAXIA-oculomotor apraxia 2 - AOA2 | | * Neuropathy, distal hereditary motor, with pyramidal features - ALS4 | | * Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 |
|
| Familial amyotrophic lateral sclerosis - (AD) | 12.26 | | | | * Amyotrophic lateral sclerosis - ALS5 |
|
| Familial amyotrophic lateral sclerosis - (AD) | 12.27 | | | fusion (involved in t(12;16) in malignant liposarcoma)
|
|
| | * Amyotrophic lateral sclerosis - ALS6 |
|
| Familial amyotrophic lateral sclerosis - (AD) | 12.28 | | | | * Amyotrophic lateral sclerosis - ALS7 |
|
| Familial amyotrophic lateral sclerosis - (AD) | 12.29 | | | vesicle-associated membrane protein-associated protein B and C
|
|
| | * Amyotrophic lateral sclerosis - ALS8 |
|
| Familial amyotrophic lateral sclerosis - (AD) | 12.30 | | | | * amyotrophic lateral sclerosis 9 - ALS9 |
|
| Familial amyotrophic lateral sclerosis - (AD) | 12.31 | | | | * amyotrophic lateral sclerosis 10 - ALS10 |
|
| Kennedy disease - (XR) | 12.32 | | | | * Androgen insensitivity - AIS | | * Breast cancer, male, with Reifenstein syndrome - DHTR | | * Perineal hypospadias - DHTR | | * Prostate cancer - AR | | * Spinal and bulbar muscular atrophy of Kennedy - SBMA |
|
| Lethal Congenital Contracture Syndrome 1 - (AR) | 12.33 | | | GLE1 RNA export mediator homolog (yeast)
|
|
| | * Lethal congenital contracture syndrome 1 - LCCS1 |
|
| Lethal Congenital Contracture Syndrome 2 - (AR) | 12.34 | | | v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
|
|
| | * Lethal congenital contracture syndrome 2 - LCCS2 |
|
| Lethal Congenital Contracture Syndrome 3 - (AR) | 12.35 | | | phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
|
|
| | * Lethal congenital contractural syndrome 3 - LCCS3 |
|
| Spinal muscular atrophy with pontocerebellar hypoplasia - (AR) | 12.36 | | | vaccinia related kinase 1
|
|
| | * Pontocerebellar hypoplasia type 1 - PCH1 |
|
