| Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
1 | ? | 11q12.2-11q12.3 | | Spinocerebellar ataxia 20 - SCA20 (13.18)
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2 | ? | 18q21 | | Amyotrophic lateral sclerosis - ALS3 (12.54)
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3 | ? | 20p13 | | Amyotrophic lateral sclerosis - ALS7 (12.58)
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4 | ? | 14q12-q22 | | Arrhythmogenic right ventricular cardiomyopathy 3 - ARVC3 (10.117)
| | Arrhythmogenic right ventricular dysplasia-3 - ARVD3 (10.117)
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5 | ? | 2q32.1-q32.3 | | Arrhythmogenic right ventricular cardiomyopathy 4 - ARVC4 (10.118)
| | Arrhythmogenic right ventricular dysplasia, familial, 4 - ARVD4 (10.118)
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6 | ? | 10q22-q24 | | Atrial fibrillation, 1 - ATFB1 (10.158)
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7 | ? | 10q22-q24 | | Atrial fibrillation, 2 - ATFB2 (10.159)
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8 | ? | 4q25 | | atrial fibrillation, familial, 5 - ATFB5 (10.162)
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9 | ? | 16q22 | | atrial fibillation, familial, 8 - ATFB8 (10.165)
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10 | ? | 9q13 | | Cardiomyopathy, familial dilated, 1 - CMD1B (10.41)
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11 | ? | 6q23 | | Dilated cardiomyopathy, 1F - CMD1F
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12 | ? | 2q14-q22 | | Cardiomyopathy, dilated, 1H - CMD1H (10.46)
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13 | ? | 6q12-q16 | | Cardiomyopathy, dilated, 1K - CMD1K (10.49)
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14 | ? | 7q22.3-q31.1 | | Cardiomyopathy, dilated, 1Q - CMD1Q (10.55)
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15 | ? | 7p12.1-q21 | | Hypertrophic cardiomyopathy, 21 - CMH28 (10.23)
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16 | ? | 8q21.3 | | Charcot-Marie-Tooth neuropathy Type 2H - CMT2H (14.61)
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17 | ? | 10q24.1-q25.1 | | charcot-marie-tooth neuropathy, dominant intermediate A - CMTDIA
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18 | ? | Xp22.2 | | charcot-marie-tooth disease, x-linked recessive, 2 - CMTX2 (14.44)
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19 | ? | 11q13 | | spinal muscular atrophy, distal, autosomal recessive, 3 - DSMA3 (12.15)
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20 | ? | 2q31.3-q32.1 | | Arthrogryposis, distal, type 10 - DA10 (16.20)
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21 | ? | 7q34-q36 | | Neuronopathy, distal hereditary motor, type I - HMN1 (12.24)
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22 | ? | 1q42 | | episodic ataxia type-3 - EA3 (13.49)
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23 | ? | 19q13 | | episodic ataxia type-7 - EA7 (13.52)
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24 | ? | 9p23-p11 | | friedreich ataxia 2 - FRDA2 (13.58)
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25 | ? | 4q34.3-q35.2 | | Hereditary motor and sensory neuropathy V - HMSN5 (12.39)
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26 | ? | 3p24-p22 | | hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag - HSAN1B (14.107)
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27 | ? | 4q21 | | Muscular dystrophy, limb-girdle, type 1G - LGMD1G
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28 | ? | 3p23-p25 | | Limb-girdle, muscular dystrophy, type 1h - LGMD1H ()
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29 | ? | 11q15 | | Left ventricular noncompaction 2 - LVNC2 (10.105)
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30 | ? | 1Q42 | |
31 | ? | 1q42 | | Congenital muscular dystrophy - MDC1B (2.45)
| | Congenital muscular dystrophy with merosin deficiency - MDC1B (2.45)
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32 | ? | 19p13 | | Muscular dystrophy, autosomal dominant, with rimmed vacuoles - MDRV ()
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33 | ? | 11q13.2q14.1 | |
34 | ? | 10q22 | | arrhythmogenic right ventricular dysplasia, familial, 7 - ARVD7
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35 | ? | 17q11.2-q24 | | Malignant hyperthermia susceptibility 2 - MHS2 (8.2)
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36 | ? | 7q21-q22 | | Malignant hyperthermia susceptibility 3 - MHS3 (8.3)
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37 | ? | 3q13.1 | | Malignant hyperthermia susceptibility 4 - MHS4 (8.4)
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38 | ? | 5p | | Malignant hyperthermia susceptibility 6 - MHS6 (8.6)
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39 | ? | 8q22.3 | | Miyoshi muscular dystrophy 2 - MMD2 (4.2)
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40 | ? | 8p22-q11 | | Adult onset distal myopathy - MPD3 (4.7)
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41 | ? | 10 | | Restrictive cardiomyopathy, 2 - RCM2 (10.97)
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42 | ? | 1q41 | | Rippling muscle disease, dominant - RMD1 (6.5)
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43 | ? | 1p21-q23 | | Spinocerebellar ataxia 21 - SCA22 (13.20)
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44 | ? | 2p21-p13 | | Spinocerebellar ataxia 25 - SCA25 (13.22)
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45 | ? | 3p26 | | Cerebellar ataxia, congenital, nonprogressive, autosomal dominant - SCA29 (13.27)
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46 | ? | 4q34.3-q35.1 | | Spinocerebellar ataxia 30 - SCA30 (13.28)
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47 | ? | 7q32-q33 | | Spinocerebellar ataxia 32 - SCA32 (13.30)
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48 | ? | 1p32 | | Spinocerebellar ataxia 37 - SCA37 (13.34)
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49 | ? | 16q22.1 | | Spinocerebellar ataxia 4 - SCA4 (13.4)
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50 | ? | 6p23-p21 | | Spinocerebellar ataxia, autosomal recessive 3 - SCAR3 (13.63)
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51 | ? | 20q11-q13 | | Spinocerebellar ataxia, autosomal recessive 6 - SCAR6 (13.66)
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52 | ? | 11p15 | |
53 | ? | 3q27-q28 | | Spastic paraplegia 14 - SPG14 (15.31)
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54 | ? | Xq11.2-q23 | | Spastic paraplegia 16 - SPG16 (15.86)
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55 | ? | 9q33-q34 | | Spastic paraplegia 19 - SPG19 (15.11)
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56 | ? | 1q24-q32 | | Spastic paraplegia 23 - SPG23 (15.36)
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57 | ? | 13q14 | | Spastic paraplegia 24 - SPG24 (15.37)
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58 | ? | 6q23.3-q24.1 | | Spastic paraplegia 25 - SPG25 (15.38)
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59 | ? | 10q22.1-q24.1 | | Spastic paraplegia 27 - SPG27 (15.40)
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60 | ? | 1p31-p21 | | Spastic paraplegia 29 - SPG29 (15.12)
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61 | ? | 14q12-q21 | | spastic paraplegia 32, autosomal recessive - SPG32 (15.43)
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62 | ? | Xq24-q25 | | Spastic paraplegia 34, X-linked - SPG34 (15.87)
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63 | ? | 12q23-q24 | | Spastic paraplegia 36, autosomal dominant - SPG36 (15.16)
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64 | ? | 8p21.1-q13.3 | | Spastic paraplegia 37, autosomal dominant - SPG37 (15.17)
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65 | ? | 4p16-p15 | | Spastic paraplegia 38, autosomal dominant - SPG38 (15.18)
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66 | ? | 11p14.1-p11.2 | | Spastic paraplegia 41, autosomal dominant - SPG41 (15.19)
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67 | ? | Xp22.3 | | episodic muscle weakness, x-linked - EMWX (5.34)
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