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 17 (Huntington disease-like) - (AD) | 13.15 | | | | * Spinocerebellar ataxia 17 - SCA17 |
|
| Spinocerebellar ataxia 18 - (AD) | 13.16 | | | Interferon-related developmental regulator 1
|
|
| | * Spinocerebellar ataxia 18 - SCA18 |
|
| Spinocerebellar ataxia 19 - (AD) | 13.17 | | | | * Spinocerebellar ataxia 19 - SCA19 |
|
| Spinocerebellar ataxia 20 - (AD) | 13.18 | | | | * Spinocerebellar ataxia 20 - SCA20 |
|
| Spinocerebellar ataxia 21 - (AD) | 13.19 | | | | * Spinocerebellar ataxia 19 - SCA21 |
|
| Spinocerebellar ataxia 22 - (AD) | 13.20 | | | | * Spinocerebellar ataxia 21 - SCA22 |
|
| Spinocerebellar ataxia 23 - ( ) | 13.21 | | | | * Spinocerebellar ataxia 23 - SCA23 |
|
| Spinocerebellar ataxia 24 - (AD) | 13.22 | - | | | * Spinocerebellar ataxia 24 - SCA24 |
|
| Spinocerebellar ataxia 25 - (AD) | 13.23 | | | | * Spinocerebellar ataxia 25 - SCA25 |
|
| Spinocerebellar ataxia 26 - (AD) | 13.24 | | | | * Spinocerebellar ataxia 26 - SCA26 |
|
| Spinocerebellar ataxia 27 - ( ) | 13.25 | | | fibroblast growth factor 14
|
|
| | * Spinocerebellar ataxia 27 - SCA27 |
|
| Spinocerebellar ataxia 28 - (AD) | 13.26 | | | Brain expressed, associated with Nedd42
|
|
| | * Spinocerebellar ataxia 28 | | * spinocerebellar ataxia-31 - SCA31 |
|
| Spinocerebellar ataxia 29 - (AD) | 13.27 | | | | * Cerebellar ataxia, congenital, nonprogressive, autosomal dominant - SCA29 |
|
| Spinocerebellar ataxia 31 - (AD) | 13.28 | | | Brain expressed, associated with Nedd42
|
| | Thymidine kinase 2, mitochondrial
|
|
| | * Spinocerebellar ataxia 28 | | * spinocerebellar ataxia-31 - SCA31 | | * Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 |
|
| Episodic ataxia type-1 , with myokimia - (AD) | 13.29 | | | potassium voltage-gated channel, shaker-related subfamily, member 1
|
|
| | * Episodic ataxia with myokymia - EA1 |
|
| Episodic ataxia type-2 ,and familial hemiplegic migraine - (AD) | 13.30 | | | 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) | 13.31 | | | | * episodic ataxia type-3 - EA3 |
|
| Episodic ataxia type-5 - (AD) | 13.32 | | | calcium channel, voltage-dependent, beta 4 subunit
|
|
| | * episodic ataxia type 5, included - EA5 |
|
| Episodic ataxia type-6 - (AD) | 13.33 | | | EAAT1 (excitatory amino acid transporter type 1)
|
|
| | * episodic ataxia type 6 - EA6 |
|
| Episodic ataxia type-7 - (AD) | 13.34 | | | | * episodic ataxia type-7 - EA7 |
|
| Acetazolamide responsive hereditary paroxysmal cerebellar ataxia - (AD) | 13.35 | | | 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) | 13.36 | | | | * Friedreich ataxia - FRDA | | * Friedreich ataxia with retained reflexes - FARR |
|
| Friedreich ataxia 2 - (AR) | 13.37 | | | | * friedreich ataxia 2 - FRDA2 |
|
| Friedreich ataxia with selective vitamin E deficiency - (AR) | 13.38 | | | 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) | 13.39 | | | 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) | 13.40 | | | | * Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH |
|
| Ataxia oculomotor Apraxia 2 - (AR) | 13.41 | | | | * ATAXIA-oculomotor apraxia 2 - AOA2 | | * Neuropathy, distal hereditary motor, with pyramidal features - ALS4 | | * Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 |
|
| Autosomal recessive spinocerebellar ataxia, 3 - (AR) | 13.42 | | | | * Spinocerebellar ataxia, autosomal recessive 3 - SCAR3 |
|
| Autosomal recessive spinocerebellar ataxia, 4 - (AR) | 13.43 | | | | * Spinocerebellar ataxia, autosomal recessive 4 - SCAR4 |
|
| Autosomal recessive spinocerebellar ataxia, 5 - (AR) | 13.44 | | | | * Spinocerebellar ataxia, autosomal recessive 5 - SCAR5 |
|
| Autosomal recessive spinocerebellar ataxia, 6 - (AR) | 13.45 | | | | * Spinocerebellar ataxia, autosomal recessive 6 - SCAR6 |
|
| Autosomal recessive spinocerebellar ataxia, 7 - (AR) | 13.46 | | | | * Spinocerebellar ataxia, autosomal recessive 7 - SCAR7 |
|
| Autosomal recessive spinocerebellar ataxia, 8 - (AR) | 13.47 | | | spectrin repeat containing, nuclear envelope 1 (nesprin 1)
|
|
| | * Dilated cardiomyopathy with nesprin-1 defect | | * Emery-dreifuss muscular dystrophy 4 - EDMD4 | | * Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 |
|
| Autosomal recessive spinocerebellar ataxia, 9 (with ubiquinone deficiency) - (AR) | 13.48 | | | chaperone, ABC1 activity of bc1 complex homolog (S. pombe)
|
|
| | * spinocerebellar ataxia, autosomal recessive 9 - SCAR9 |
|
| Spinocerebellar ataxia with axonal neuropathy - (AR) | 13.49 | | | Tyrosyl-DNA phosphodiesterase 1
|
|
| | * spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 |
|
| Marinesco-Sj**gren syndrome (cerebellar ataxia with cataract and myopathy) - (AR) | 13.50 | | | SIL1 homolog, endoplasmic reticulum chaperone
|
|
| | * Marinesco-Sjogren syndrome - MSS |
|
| Sensory ataxic neuropathy, dysarthria and ophtalmoparesis - (AR) | 13.51 | | | 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) | 13.52 | | | ataxia telangiectasia mutated
|
|
| | * ataxia telangiectasia - AT |
|
| Ataxia telangiectasia-like disorder - (AR) | 13.53 | | | MRE11 meiotic recombination 11 homolog A
|
|
| | * ataxia telangiectasia-like disorder - ATLD |
|
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay - (AR) | 13.54 | | | | * Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS | | * Spastic ataxia, Charlevoix-Saguenay type - SACS |
|
| Refsum disease-1 (adult) - (AR) | 13.55 | | | phytanoyl-CoA 2-hydroxylase
|
|
| | * Refsum disease, adult - RD |
|
| Refsum disease-2 (adult) - (AR) | 13.56 | | | peroxisomal biogenesis factor 7
|
|
| | * Refsum disease, adult - RD |
|
| Abetalipoproteinemia - (AR) | 13.57 | | | microsomal triglyceride transfer protein
|
|
| | * abetalipoproteinemia - ABL |
|
