Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
1
?
11q12.2-11q12.3
Spinocerebellar ataxia 20 - SCA20 (13.18)
2
?
18q21
Amyotrophic lateral sclerosis - ALS3 (12.45)
3
?
20p13
Amyotrophic lateral sclerosis - ALS7 (12.49)
4
?
14q12-q22
Arrhythmogenic right ventricular cardiomyopathy 3 - ARVC3 (10.105)
Arrhythmogenic right ventricular dysplasia-3 - ARVD3 (10.105)
5
?
2q32.1-q32.3
Arrhythmogenic right ventricular cardiomyopathy 4 - ARVC4 (10.106)
Arrhythmogenic right ventricular dysplasia, familial, 4 - ARVD4 (10.106)
6
?
10q22-q24
Atrial fibrillation, 1 - ATFB1 (10.142)
7
?
10q22-q24
Atrial fibrillation, 2 - ATFB2 (10.143)
8
?
4q25
atrial fibrillation, familial, 5 - ATFB5 (10.146)
9
?
16q22
atrial fibillation, familial, 8 - ATFB8 (10.149)
10
?
9q13
Cardiomyopathy, familial dilated, 1 - CMD1B (10.38)
11
?
6q23
Dilated cardiomyopathy, 1F - CMD1F
12
?
2q14-q22
Cardiomyopathy, dilated, 1H - CMD1H (10.43)
13
?
6q12-q16
Cardiomyopathy, dilated, 1K - CMD1K (10.46)
14
?
7q22.3-q31.1
Cardiomyopathy, dilated, 1Q - CMD1Q (10.52)
15
?
3p23-21
Congenital muscle dystrophy with joint hyperlaxity - (2.42)
16
?
8q21.3
Charcot-Marie-Tooth neuropathy Type 2H - CMT2H (14.51)
17
?
10q24.1-q25.1
charcot-marie-tooth neuropathy, dominant intermediate A - CMTDIA (14.12)
18
?
Xp22.2
charcot-marie-tooth disease, x-linked recessive, 2 - CMTX2 (14.35)
19
?
11q13
spinal muscular atrophy, distal, autosomal recessive, 3 - DSMA3 (12.7)
20
?
2q31.3-q32.1
Arthrogryposis, distal, type 10 - DA10 (16.20)
21
?
7q34-q36
Neuronopathy, distal hereditary motor, type I - HMN1 (12.16)
22
?
1q42
episodic ataxia type-3 - EA3 (13.46)
23
?
19q13
episodic ataxia type-7 - EA7 (13.49)
24
?
9p23-p11
friedreich ataxia 2 - FRDA2 (13.52)
25
?
4q34.3-q35.2
Hereditary motor and sensory neuropathy V - HMSN5 (12.28)
26
?
3p24-p22
hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag - HSAN1B (14.91)
27
?
4q21
Muscular dystrophy, limb-girdle, type 1G - LGMD1G
28
?
3p23-p25
Limb-girdle, muscular dystrophy, type 1h - LGMD1H (1.24)
29
?
11q15
Left ventricular noncompaction 2 - LVNC2 (10.93)
30
?
1Q42
-
31
?
1q42
Congenital muscular dystrophy - MDC1B (2.44)
Congenital muscular dystrophy with merosin deficiency - MDC1B (2.44)
32
?
19p13
Muscular dystrophy, autosomal dominant, with rimmed vacuoles - MDRV (4.8)
33
?
10q22
arrhythmogenic right ventricular dysplasia, familial, 7 - ARVD7
34
?
17q11.2-q24
Malignant hyperthermia susceptibility 2 - MHS2 (8.2)
35
?
7q21-q22
Malignant hyperthermia susceptibility 3 - MHS3 (8.3)
36
?
3q13.1
Malignant hyperthermia susceptibility 4 - MHS4 (8.4)
37
?
5p
Malignant hyperthermia susceptibility 6 - MHS6 (8.6)
38
?
8p22-q11
Adult onset distal myopathy - MPD3 (4.6)
39
?
10
Restrictive cardiomyopathy, 2 - RCM2 (10.86)
40
?
1q41
Rippling muscle disease, dominant - RMD1 (6.5)
41
?
1p21-q23
Spinocerebellar ataxia 21 - SCA22 (13.20)
42
?
2p21-p13
Spinocerebellar ataxia 25 - SCA25 (13.22)
43
?
3p26
Cerebellar ataxia, congenital, nonprogressive, autosomal dominant - SCA29 (13.26)
44
?
4q34.3-q35.1
Spinocerebellar ataxia 30 - SCA30 (13.27)
45
?
7q32-q33
Spinocerebellar ataxia 32 - SCA32 (13.29)
46
?
1p32
Spinocerebellar ataxia 37 - SCA37 (13.33)
47
?
16q22.1
Spinocerebellar ataxia 4 - SCA4 (13.4)
48
?
6p23-p21
Spinocerebellar ataxia, autosomal recessive 3 - SCAR3 (13.56)
49
?
20q11-q13
Spinocerebellar ataxia, autosomal recessive 6 - SCAR6 (13.59)
50
?
11p15
-
51
?
3q27-q28
Spastic paraplegia 14 - SPG14 (15.27)
52
?
Xq11.2
Spastic paraplegia 16 - SPG16 (15.74)
53
?
9q33-q34
Spastic paraplegia 19 - SPG19 (15.10)
54
?
1q24-q32
Spastic paraplegia 23 - SPG23 (15.32)
55
?
13q14
Spastic paraplegia 24 - SPG24 (15.33)
56
?
6q23.3-q24.1
Spastic paraplegia 25 - SPG25 (15.34)
57
?
10q22.1-q24.1
Spastic paraplegia 27 - SPG27 (15.36)
58
?
1p31-p21
Spastic paraplegia 29 - SPG29 (15.11)
59
?
14q12-q21
spastic paraplegia 32, autosomal recessive - SPG32 (15.39)
60
?
Xq24-q25
Spastic paraplegia 34, X-linked - SPG34 (15.75)
61
?
12q23-q24
Spastic paraplegia 36, autosomal dominant - SPG36 (15.14)
62
?
8p21.1-q13.3
Spastic paraplegia 37, autosomal dominant - SPG37 (15.15)
63
?
4p16-p15
Spastic paraplegia 38, autosomal dominant - SPG38 (15.16)
64
?
11p14.1-p11.2
Spastic paraplegia 41, autosomal dominant - SPG41 (15.17)
65
?
Xp22.3
episodic muscle weakness, x-linked - EMWX (5.26)