Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Spinocerebellar ataxia 1 - (AD) | 13.1 | | |  | Olivopontocerebellar atrophy I -OPCA1 | | Spinocerebellar ataxia 1 -SCA1 |
|
| Spinocerebellar ataxia 2 - (AD) | 13.2 | | | | Olivopontocerebellar atrophy II -OPCA | | Spinocerebellar ataxia 2 -SCA2 |
|
| Spinocerebellar ataxia 3 (Machado-Joseph disease) - (AD) | 13.3 | | | | Machado-Joseph disease -MJD | | Spinocerebellar ataxia 3 -SCA3 |
|
| Spinocerebellar ataxia 4 - (AD) | 13.4 | | | | Spinocerebellar ataxia 4 -SCA4 |
|
| Spinocerebellar ataxia 5 - (AD) | 13.5 | | | spectrin, beta, non-erythrocytic 2
|
|
| | Spinocerebellar ataxia 5 -SCA5 |
|
| Spinocerebellar ataxia 6 - (AD) | 13.6 | | | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
| | Acetazolamide-responsive hereditary paroxymal cerebellar ataxia -APCA | | Cerebellar ataxia, paroxymal, acetazolamide-responsive -CAPA | | Cerebellar ataxia, pure -CACNA1A | | Episodic ataxia, type 2 -EA2 | | Hemiplegic migraine, familial -FHM1 | | Migraine familial hemiplegic 1, with progressive cerebellar ataxia -MHP1 | | Spinocerebellar ataxia 6 -SCA6 |
|
| Spinal cerebellarataxia 7 (olivopontocerebellar atrophy III) - (AD) | 13.7 | | | | Olivopontocerebellar atrophy III -OPCA3 | | Spinocerebellar ataxia 7 -SCA7 |
|
| Spinocerebellar ataxia 8 - (AD) | 13.8 | | | | Spinocerebellar ataxia 8 -SCA8 |
|
| Spinocerebellar ataxia 10 - (AD) | 13.9 | | | | Spinocerebellar ataxia 10 -SCA10 |
|
| Spinocerebellar ataxia 11 - (AD) | 13.10 | | | | Spinocerebellar ataxia 11 -SCA11 |
|
| Spinocerebellar ataxia 12 - (AD) | 13.11 | | | protein phosphatase 2 regulatory subunit B, beta isoform
|
|
| | Spinocerebellar ataxia 12 -SCA12 |
|
| Spinocerebellar ataxia 13 - (AD) | 13.12 | | | potassium voltage-gated channel, Shaw-related subfamily, member 3
|
|
| | Spinocerebellar ataxia 13 -SCA13 |
|
| Spinocerebellar ataxia 14 - (AD) | 13.13 | | | | Spinocerebellar ataxia 14 -SCA14 |
|
| Spinocerebellar ataxia 15 - (AD) | 13.14 | | | Inositol 1,4,5-triphosphate receptor type 1
|
|
| | Spinocerebellar ataxia 15 -SCA15 |
|
| Spinocerebellar ataxia 16 - (AD) | 13.15 | | | | Spinocerebellar ataxia 16 -SCA16 |
|
| Spinocerebellar ataxia 17 (Huntington disease-like) - (AD) | 13.16 | | | | Spinocerebellar ataxia 17 -SCA17 |
|
| Spinocerebellar ataxia 18 - (AD) | 13.17 | | | | Spinocerebellar ataxia 18 -SCA18 |
|
| Spinocerebellar ataxia 19 - (AD) | 13.18 | | | | Spinocerebellar ataxia 19 -SCA19 |
|
| Spinocerebellar ataxia 20 - (AD) | 13.19 | | | | Spinocerebellar ataxia 20 -SCA20 |
|
| Spinocerebellar ataxia 21 - (AD) | 13.20 | | | | Spinocerebellar ataxia 19 -SCA21 |
|
| Spinocerebellar ataxia 22 - (AD) | 13.21 | | | | Spinocerebellar ataxia 21 -SCA22 |
|
| Spinocerebellar ataxia 23 - ( ) | 13.22 | | | | Spinocerebellar ataxia 23 -SCA23 |
|
| Spinocerebellar ataxia 24 - (AD) | 13.23 | - | | | Spinocerebellar ataxia 24 -SCA24 |
|
| Spinocerebellar ataxia 25 - (AD) | 13.24 | | | | Spinocerebellar ataxia 25 -SCA25 |
|
| Spinocerebellar ataxia 26 - (AD) | 13.25 | | | | Spinocerebellar ataxia 26 -SCA26 |
|
| Spinocerebellar ataxia 27 - ( ) | 13.26 | | | fibroblast growth factor 14
|
|
| | Spinocerebellar ataxia 27 -SCA27 |
|
| Spinocerebellar ataxia 28 - (AD) | 13.27 | | | | Spinocerebellar ataxia 28 -SCA28 |
|
| Spinocerebellar ataxia 29 - (AD) | 13.28 | | | | cerebellar ataxia, congenital, nonprogressive, autosomal dominant -SCA29 |
|
| Spinocerebellar ataxia 31 - (AD) | 13.29 | | | | spinocerebellar ataxia-31 -SCA31 |
|
| Episodic ataxia type-1 , with myokimia - (AD) | 13.30 | | | potassium voltage-gated channel, shaker-related subfamily, member 1
|
|
| | Episodic ataxia with myokymia -EA1 |
|
| Episodic ataxia type-2 ,and familial hemiplegic migraine - (AD) | 13.31 | | | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
| | Acetazolamide-responsive hereditary paroxymal cerebellar ataxia -APCA | | Cerebellar ataxia, paroxymal, acetazolamide-responsive -CAPA | | Cerebellar ataxia, pure -CACNA1A | | Episodic ataxia, type 2 -EA2 | | Hemiplegic migraine, familial -FHM1 | | Migraine familial hemiplegic 1, with progressive cerebellar ataxia -MHP1 | | Spinocerebellar ataxia 6 -SCA6 |
|
| Episodic ataxia type-3 - (AD) | 13.32 | | | | episodic ataxia type-3 -EA3 |
|
| Episodic ataxia type-5 - (AD) | 13.33 | | | | episodic ataxia type 5, included -EA5 |
|
| Episodic ataxia type-6 - (AD) | 13.34 | | | EAAT1 (excitatory amino acid transporter type 1)
|
|
| | episodic ataxia type 6 -EA6 |
|
| Episodic ataxia type-7 - (AD) | 13.35 | | | | episodic ataxia type-7 -EA7 |
|
| Acetazolamide responsive hereditary paroxysmal cerebellar ataxia - (AD) | 13.36 | | | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
| | Acetazolamide-responsive hereditary paroxymal cerebellar ataxia -APCA | | Cerebellar ataxia, paroxymal, acetazolamide-responsive -CAPA | | Cerebellar ataxia, pure -CACNA1A | | Episodic ataxia, type 2 -EA2 | | Hemiplegic migraine, familial -FHM1 | | Migraine familial hemiplegic 1, with progressive cerebellar ataxia -MHP1 | | Spinocerebellar ataxia 6 -SCA6 |
|
| Friedreich ataxia 1 - (AR) | 13.37 | | | | Friedreich ataxia -FRDA | | Friedreich ataxia with retained reflexes -FARR |
|
| Friedreich ataxia 2 - (AR) | 13.38 | | | | friedreich ataxia 2 -FRDA2 |
|
| Friedreich ataxia with selective vitamin E deficiency - (AR) | 13.39 | | | tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
|
|
| | Ataxia with isolated vitamin E deficiency -TTPA | | Ataxia, Friedreich-like, with selective vitamin E deficiency -AVED |
|
| Infantile-onset spinocerebellar ataxia - (AR) | 13.40 | | | twinkle/twinky (mt DNA helicase)
|
|
| | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal -PEO3A | | Spinocerebellar ataxia, infantile-onset, with sensory neuropathy -IOSCA |
|
| Ataxia oculomotor apraxia 1 - (AR) | 13.41 | | | | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia -EAOH |
|
| Ataxia oculomotor Apraxia 2 - (AR) | 13.42 | | | | Neuropathy, distal hereditary motor, with pyramidal features -ALS4 | | Spinocerebellar ataxia, autosomal recessive 1 -SCAR1 |
|
| Autosomal recessive spinocerebellar ataxia, 3 - (AR) | 13.43 | | | | Spinocerebellar ataxia, autosomal recessive 3 -SCAR3 |
|
| Autosomal recessive spinocerebellar ataxia, 4 - (AR) | 13.44 | | | | Spinocerebellar ataxia, autosomal recessive 4 -SCAR4 |
|
| Autosomal recessive spinocerebellar ataxia, 5 - (AR) | 13.45 | | | | Spinocerebellar ataxia, autosomal recessive 5 -SCAR5 |
|
| Autosomal recessive spinocerebellar ataxia, 6 - (AR) | 13.46 | | | | Spinocerebellar ataxia, autosomal recessive 6 -SCAR6 |
|
| Autosomal recessive spinocerebellar ataxia, 7 - (AR) | 13.47 | | | | Spinocerebellar ataxia, autosomal recessive 7 -SCAR7 |
|
| Autosomal recessive spinocerebellar ataxia, 8 - (AR) | 13.48 | | | spectrin repeat containing, nuclear envelope 1 (nesprin 1)
|
|
| | cerebellar ataxia, autosomal recessive, type 1 -ARCA1 | | Emery-dreifuss muscular dystrophy 4 -EDMD4 | | Spinocerebellar ataxia, autosomal recessive 8 -SCAR8 |
|
| Autosomal recessive spinocerebellar ataxia, 9 (with ubiquinone deficiency) - (AR) | 13.49 | | | chaperone, ABC1 activity of bc1 complex homolog (S. pombe)
|
|
| | spinocerebellar ataxia, autosomal recessive 9 -SCAR9 |
|
| Spinocerebellar ataxia with axonal neuropathy - (AR) | 13.50 | | | Tyrosyl-DNA phosphodiesterase 1
|
|
| | spinocerebellar ataxia, autosomal recessive, with axonal neuropathy -SCAN1 |
|
| Marinesco-Sjögren syndrome (cerebellar ataxia with cataract and myopathy) - (AR) | 13.51 | | | SIL1 homolog, endoplasmic reticulum chaperone
|
|
| | Marinesco-Sjogren syndrome -MSS |
|
| Sensory ataxic neuropathy, dysarthria and ophtalmoparesis - (AR) | 13.52 | | | polymerase (DNA directed), gamma
|
|
| | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal -PEOA1 | | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis -SANDO | | spinocerebellar ataxia with epilepsy, included -SCAE |
|
| Ataxia telangiectasia - (AR) | 13.53 | | | ataxia telangiectasia mutated
|
|
| | ataxia telangiectasia -AT |
|
| Ataxia telangiectasia-like disorder - (AR) | 13.54 | | | MRE11 meiotic recombination 11 homolog A
|
|
| | ataxia telangiectasia-like disorder -ATLD |
|
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay - (AR) | 13.55 | | | | Autosomal recessive spastic ataxia of Charlevoix-Saguenay -ARSACS | | Spastic ataxia, Charlevoix-Saguenay type -SACS |
|
| Refsum disease-1 (adult) - (AR) | 13.56 | | | phytanoyl-CoA 2-hydroxylase
|
|
| | refsum disease, adult -RD |
|
| Refsum disease-2 (adult) - (AR) | 13.57 | | | peroxisomal biogenesis factor 7
|
|
| | refsum disease, adult -RD |
|
| Abetalipoproteinemia - (AR) | 13.58 | | | microsomal triglyceride transfer protein
|
|
| | abetalipoproteinemia -ABL |
|
