GeneTable

	Disease phenotype	OMIM	Gene symbol (chromosome) protein
1	Absence of pain, Congenital (14.123)		CLTCL1 (22q11.21) Clathrin, heavy polypeptide-like 1
2	Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.54, 7.10, 13.48)	108500	CACNA1A (19p13.13) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
3	Acyl-CoA dehydrogenase (very long chain) deficiency (9.24)	201475	ACADVL (17p13) Acyl-Coenzyme A dehydrogenase, very long chain(M)
4	Adult onset distal myopathy (4.7)	610099	? - (8p22-q11)
5	Agenesis of the corpus callosum with peripheral neuropathy (14.129)	218000	SLC12A6 (15q13-q15) Potassium chloride cotransporter KCC3
6	Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.80)	270200	ALDH3A2 (17p11.2) Aldehyde dehydrogenase 3A2
7	Amyotrophic lateral sclerosis (12.54)	606640	? - (18q21)
8	Amyotrophic lateral sclerosis (12.59, 12.43)	608627	VAPB (7p15) Vesicle-associated membrane protein-associated protein B and C
9	Amyotrophic lateral sclerosis (12.58)	608031	? - (20p13)
10	Amyotrophic lateral sclerosis (12.57)	608030	FUS (16q12) Fusion (involved in t(12;16) in malignant liposarcoma)
11	Amyotrophic lateral sclerosis (12.85)		LRP10 (14q11.2) Low Density Lipoprotein Receptor-Related Protein 10
12	Amyotrophic lateral sclerosis (14.106, 12.86)		SPTLC1 (9q22.2) Serine palmitoyltransferase subunit 1
13	Amyotrophic lateral sclerosis 1 (12.51, 12.52)	105400	SOD1 (21q22.1) Superoxide dismutase 1, soluble
14	amyotrophic lateral sclerosis 10 (12.61)	612069	TARDBP (1p36.2) TAR DNA binding protein
15	Amyotrophic lateral sclerosis 11 (14.39, 12.62)	612577	FIG4 (6q21) Sac domain-containing inositol phosphatase 3
16	Amyotrophic lateral sclerosis 12 (12.63)		OPTN (10p14) Optineurin
17	Amyotrophic lateral sclerosis 13 (13.2, 12.64)	183090	ATXN2 (12q24.12) Ataxin 2
18	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.35, 4.22, 12.65, 1.58, 14.73)	613954	VCP (9p13-p12) Valosin-containing protein
19	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.66)		UBQLN2 (Xp11.21) Ubiquilin 2
20	Amyotrophic lateral sclerosis 16, juvenile (12.14, 12.67)	614373	SIGMAR1 (9p13.3) Sigma non-opioid intracellular receptor 1
21	Amyotrophic lateral sclerosis 17 (12.68)	614696	CHMP2B (3p11.2) Charged multivesicular body protein 2B
22	Amyotrophic lateral sclerosis 18 (12.69)	614808	PFN1 (17p13.2) Profilin 1
23	Amyotrophic lateral sclerosis 19 (12.70)	615515	ERBB4 (2q34) V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4
24	Amyotrophic lateral sclerosis 20 (12.71, 5.37)	615426	HNRNPA1 (12q13.13) Heterogeneous nuclear ribonucleoprotein A1
25	Amyotrophic lateral sclerosis 22 (12.73)	616208	TUBA4A (2q35) Tubulin, Alpha-4A
26	Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.80, 12.76)	617921	KIF5A (12q13.13) Kinesin family member 5A
27	Amyotrophic lateral sclerosis 28 (5.22, 12.77)	620452	LRP12 (8q22.3) Low density lipoprotein receptor-related protein 12
28	Amyotrophic lateral sclerosis 5 (15.30, 12.56, 14.96)	602099	SPG11 (15q21.1) SPG11 vesicle trafficking associated, Spatacsin
29	amyotrophic lateral sclerosis 9 (12.60)	611895	ANG (14q11.2) Angiogenin
30	Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.44, 12.82, 16.63)	615911	CHCHD10 (22q11.2-q13.2) Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
31	Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.81, 12.113)	105550	C9orf72 (9p21.2) Chromosome 9 open reading frame 72
32	Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.83, 4.23, 4.15)	616437	SQSTM1 (5q35.3) Sequestosome 1
33	Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.84)	616439	TBK1 (12q14.2) Tank-binding kinase 1
34	Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.51, 12.52)	105400	SOD1 (21q22.1) Superoxide dismutase 1, soluble
35	Amyotrophic lateral sclerosis, juvenile (12.53, 15.81)	205100	ALS2 (2q33.2) Alsin Rho guanine nucleotide exchange factor 2
36	Amyotrophic lateral sclerosis, susceptibility to, 24 (12.75)	617892	NEK1 (4q33) Never in motosis gene A-related kinase 1
37	Amytrophic lateral sclerosis 23 (12.74, 12.110)	617839	ANXA11 (10q23.3) Annexin A11
38	Andermann syndrome (14.129)	218000	SLC12A6 (15q13-q15) Potassium chloride cotransporter KCC3
39	Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.152, 10.148)		KCNJ5 (11 q24.3) Potassium inwardly-rectifying channel, subfamily J, member 5
40	Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.155, 10.166, 10.142)		KCNJ2 (17q24.3) Potassium channel, inwardly rectifying, dubfamily J, member 2
41	Arrhythmogenic right ventricular cardiomyopathy 2 (10.116, 10.128)	600996	RYR2 (1q43) Ryanodine receptor 2
42	Arrhythmogenic right ventricular cardiomyopathy 3 (10.117)	602086	? - (14q12-q22)
43	Arrhythmogenic right ventricular cardiomyopathy 4 (10.118)	602087	? - (2q32.1-q32.3)
44	Arrhythmogenic right ventricular cardiomyopathy 6 (10.120, 3.39)	604404	HACD1 (10p12.33) Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase
45	Arrhythmogenic right ventricular dysplasia 2 (10.116, 10.128)	600996	RYR2 (1q43) Ryanodine receptor 2
46	Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 10.47, 5.15, 10.135, 11.44)	601419	DES (2q35) Desmin
47	Arrhythmogenic right ventricular dysplasia-3 (10.117)	602086	? - (14q12-q22)
48	Arrhythmogenic right ventricular dysplasia, 1 (10.115)	107970	TGFB3 (14q24.3) Transforming growth factor, beta 3
49	Arrhythmogenic right ventricular dysplasia, 10 (10.123, 10.66)	610193	DSG2 (18q12.1) Desmoglein 2
50	Arrhythmogenic right ventricular dysplasia, 11 (10.124)	610476	DSC2 (18q12.1) Desmocollin 2
51	Arrhythmogenic right ventricular dysplasia, 8 (10.121)	607450	DSP (6p24.3) Desmoplakin
52	Arrhythmogenic right ventricular dysplasia, 9 (10.122)	609040	PKP2 (12p11.21) Plakophilin 2
53	Arrhythmogenic right ventricular dysplasia, familial, 1 (10.115)	107970	TGFB3 (14q24.3) Transforming growth factor, beta 3
54	arrhythmogenic right ventricular dysplasia, familial, 12 (10.134, 10.125)	611528	JUP (17q21.2) Junction plakoglobin
55	Arrhythmogenic right ventricular dysplasia, familial, 13 (10.126)	615616	CTNNA3 (10q21.3) Catenin alpha 3
56	Arrhythmogenic right ventricular dysplasia, familial, 14 (10.127)	618920	CDH2 (18q12.1) Cadherin 2
57	Arrhythmogenic right ventricular dysplasia, familial, 4 (10.118)	602087	? - (2q32.1-q32.3)
58	arrhythmogenic right ventricular dysplasia, familial, 5 (10.119, 1.8)	604400	TMEM43 (3p25.1) Transmembrane protein 43
59	Arrhythmogenic right ventricular dysplasia, familial, 6 (10.120, 3.39)	604401	HACD1 (10p12.33) Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase
60	arrhythmogenic right ventricular dysplasia, familial, 7 (	609160	? - (10q22)
61	Arthrogryposis and BICD2-related neuromuscular disease (12.41, 12.42, 16.24)		BICD2 (9q22.31) Bicaudal D homolog 2 (Drosophila)
62	Arthrogryposis multiplex congenita with nesprin-1 defect (1.5, 13.68, 16.23, 10.93)	618484	SYNE1 (6q25) Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
63	Arthrogryposis related to ASCC1 (12.6, 16.25)		ASCC1 (10q22.1) Activating signal cointegrator 1 complex subunit 1
64	Arthrogryposis, distal type 11 (16.21)	620019	MET (7q31.2) MET protooncogene
65	Arthrogryposis, distal type 12 (16.22)	620545	ADAMTS15 (11q24.3) A disintegin-like and metalloproteinase with thrombospondin type 1 motif 15
66	Arthrogryposis, distal, type 1B (16.10, 12.90, 3.44)	614335	MYBPC1 (12q23.2) Myosin-binding proteinC, slow type
67	Arthrogryposis, distal, type 3 (16.16, 16.17)	114300	PIEZO2 (18p11.22-p11.21) Piezo-type mechanosensitive ion channel component 2
68	Arthrogryposis, distal, type 5 (16.16, 16.17)	108145	PIEZO2 (18p11.22-p11.21) Piezo-type mechanosensitive ion channel component 2
69	Arthrogryposis, distal, type 10 (16.20)	187370	? - (2q31.3-q32.1 )
70	Arthrogryposis, distal, type 1A (3.7, 3.50, 16.9, 16.15)	108120	TPM2 (9p13) Tropomyosin 2 (beta)
71	Arthrogryposis, distal, type 2A (16.11, 16.14)	193700	MYH3 (17p13) Myosine, heavy chain 3, skeletal muscle, embryonic
72	arthrogryposis, distal, type 2B (3.7, 3.50, 16.9, 16.15)	601680	TPM2 (9p13) Tropomyosin 2 (beta)
73	Arthrogryposis, distal, type 2B (16.12)	601680	TNNI2 (11p15.5) Troponin I, type 2
74	Arthrogryposis, distal, type 2B (16.13, 3.17)	601680	TNNT3 (11p15.5) Troponin T3, skeletal
75	Arthrogryposis, distal, type 2B (16.11, 16.14)	601680	MYH3 (17p13) Myosine, heavy chain 3, skeletal muscle, embryonic
76	Arthrogryposis, distal, type 5D (16.18)	615065	ECEL1 (2q37.1) Endothelin-converting enzyme like 1
77	Asymmetric septal hypertrophy (10.56, 10.10, 10.107)	192600	ACTC1 (15q11-q14) Actin, alpha, cardiac muscle precursor
78	ataxia telangiectasia (13.99)	208900	ATM (11q22.3) Ataxia telangiectasia mutated
79	ataxia telangiectasia-like disorder (13.100)	604391	MRE11A (11q21) MRE11 meiotic recombination 11 homolog A
80	Ataxia telangiectasia-like disorder 2 (13.101)	615919	PCNA (20p12.3) Proloferating cell nuclear antigen
81	Ataxia with isolated vitamin E deficiency (13.59)	277460	TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
82	Ataxia-pancytopenia syndrome (13.56, 13.46)	159550	SAMD9L (7q21.2) Sterile Alpha Motif Domain-Containing Protein 9-Like
83	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.61)	208920	APTX (9p13.3) Aprataxin
84	Ataxia, Friedreich-like, with selective vitamin E deficiency (13.59)	277460	TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
85	Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.122)	609033	FLVCR1 (1q32.3) Feline leukemia subgroup C receptor 1
86	ataxia, spastic, 1, autosomal dominant (15.88, 11.33)	108600	VAMP1 (12p13) Vesicle associated membrane protein (synaptobrevin 1)(M)
87	ataxia, spastic, 2, autosomal recessive (15.89)	611302	KIF1C (17p13.2) kinesin family member 1C
88	ATFB18 (10.175)	617280	MYL4 (17q21.32) Myosin, Light Chain 4, Alkali, Atrial, Embryonic
89	atrial fibillation, familial, 8 (10.165)	613055	? - (16q22)
90	Atrial fibrillation , 12 (10.53, 10.169)	614050	ABCC9 (16p13.1) ATP-binding cassette, sub-family C (member 9)
91	Atrial fibrillation, 1 (10.158)	607554	? - (10q22-q24)
92	Atrial fibrillation, 10 (10.138, 10.44, 10.177, 10.187, 10.167)	614022	SCN5A (3p22.2) Voltage-gated sodium channel type V alpha
93	Atrial fibrillation, 13 (10.181, 10.170)	615377	SCN1B (19q13.11) Sodium channel, voltage-gated, type I, beta subunit
94	Atrial fibrillation, 14 (10.171)	615378	SCN2B (11q23.3) Sodium channel, voltage-gated, type II, beta subunit
95	Atrial fibrillation, 15 (10.172)	615770	NUP155 (5p13.2) Nucleoporin 155 kDa
96	Atrial fibrillation, 16 (10.183, 10.173)	613120	SCN3B (11 q24.1) Sodium channel, voltage-gated, type III, beta subunit
97	Atrial fibrillation, 17 (10.145, 10.174)	611819	SCN4B (11q23.3) Sodium channel, voltage-gated, type IV, beta subunit
98	Atrial fibrillation, 2 (10.159)	608988	? - (10q22-q24)
99	Atrial fibrillation, 3 (10.156, 10.136, 10.160, 10.154)	607554	KCNQ1 (11p15.5-p15.4) Potassium voltage-gated channel, KQT-like subfamily, member 1
100	Atrial fibrillation, 4 (10.141, 10.161)	611493	KCNE2 (21q22.12) Potassium voltage-gated channel, Isk-related family, member 2
101	Atrial fibrillation, 9 (10.155, 10.166, 10.142)	613980	KCNJ2 (17q24.3) Potassium channel, inwardly rectifying, dubfamily J, member 2
102	atrial fibrillation, familial (10.164)	612240	KCNA5 (12p13.32) Potassium voltage-gated channel, shaker-related subfamily, member 5
103	atrial fibrillation, familial, 1 (10.168, 10.176)	608583	GJA5 (1q21.1) Connexin 40
104	atrial fibrillation, familial, 5 (10.162)	611494	? - (4q25)
105	atrial fibrillation, familial, 6 (10.163)	612201	NPPA (1p36.22) Natriuretic peptide precursor A
106	Autophagic vacuolar myopathy (5.20)	204200	CLN3 (16p11.2) Ceroid-lipofuscinosis, neuronal 3 (=battenin)
107	Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98)	603689	TTN (2q31) Titin
108	Autosomal recessive CMT axonal type 2S (12.13, 14.94)	616155	IGHMBP2 (11q13.2-q13.4) Immunoglobulin mu binding protein 2
109	Autosomal recessive CMT2 related to DNAJB2 (12.17, 14.91)		DNAJB2 (2q32-q34) DnaJ (Hsp40) homolog, subfamily B, member 2
110	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.93, 13.102, 14.100)	270550	SACS (13q12) Sacsin
111	autosomal recessive spastic ataxia with leukoencephalopathy (15.90)	611390	MARS2 (2q33-34) Methionyl-tRNA synthetase 2, mitochondrial(M)
112	Autosomal recessive spinocerebellar ataxia, 2 (13.62)	213200	PMPCA (9q34.3) Mitochondrial processing peptidase-alpha, KIAA0123
113	Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.69, 16.75)	612016	ADCK3 (1q42.13) Coenzyme Q8A
114	Axonal neuropathy intermediate recessive C (12.16, 14.25)	615376	PLEKHG5 (1p36) Pleckstrin homology domain containing, family G (with RhoGef domain) member 5
115	Axonal neuropathy recessive (14.24)	613641	KARS (16q23.1) Lysyl-tRNA synthetase
116	Barth syndrome (10.91, 10.103)	302060	TAZ (Xq28) Tafazzin
117	Becker muscular distrophy (1.1, 10.92)	300376	DMD (Xp21.2) Dystrophin
118	Bethlem myopathy (2.8, 2.4, 1.40, 1.22)	158810	COL6A3 (2q37) Alpha 3 type VI collagen
119	Bethlem myopathy (2.2, 2.6, 1.38, 1.20)	158810	COL6A1 (21q22.3) Alpha 1 type VI collagen
120	Bethlem myopathy (2.5, 2.4, 2.7, 2.12, 1.39, 1.21, 2.3)	158810	COL6A2 (21q22.3) Alpha 2 type VI collagen
121	Bethlem myopathy 2 (2.9, 2.10, 2.11)	616471	COL12A1 (6q13-q14) Collagen type XII alpha 1 chain
122	Brody disease (6.9)	601003	ATP2A1 (16p12.1) ATPase, Ca++ transporting, fast twitch 1
123	Brown-Vialetto-Van Laere syndrome 1 (12.102)	211530	SLC52A3 (20p13) Solute carrier family 52, riboflavin transporter, member 3
124	Brown-Vialetto-Van Laere syndrome 2 (12.103)	614707	SLC52A2 (8q24) Solute carrier family 52, riboflavin transporter, member 2
125	Brugada syndrome (10.186)		TMEM168 (7q31.1 ) Transmembrane protein 168
126	Brugada syndrome 1 (10.138, 10.44, 10.177, 10.187, 10.167)	601144	SCN5A (3p22.2) Voltage-gated sodium channel type V alpha
127	brugada syndrome 2 (10.178)	611777	GPD1L (3p22.3) Glycerol-3-phosphate dehydrogenase 1-like
128	brugada syndrome 3 (10.143, 10.179)	611875	CACNA1C (12p13.33) Calcium channel, voltage-dependent, L type, alpha 1C subunit
129	brugada syndrome 4 (10.180)	611876	CACNB2 (10p12.33-p12.31 ) Calcium channel, voltage-dependent, beta 2 subunit
130	Brugada syndrome 5 (10.181, 10.170)	612838	SCN1B (19q13.11) Sodium channel, voltage-gated, type I, beta subunit
131	Brugada syndrome 6 (7.11, 10.182)	613119	KCNE3 (11q13.4) Potassium voltage-gated channel, Isk-related family, member 3
132	Brugada syndrome 7 (10.183, 10.173)	613120	SCN3B (11 q24.1) Sodium channel, voltage-gated, type III, beta subunit
133	Brugada syndrome 8 (10.188, 10.184)	613123	HCN4 (3p22.2) Hyperpolarization activated cyclic nucleotide-gated potassium channel 4
134	Brugada syndrome 9 (13.17, 10.185)	616399	KCND3 (1p13.2) Potassium voltage-gated channel, Shal-related subfamily, member 3
135	Cap myopathy, TPM2-related, included (3.7, 3.50, 16.9, 16.15)	609285	TPM2 (9p13) Tropomyosin 2 (beta)
136	Cardiac and skeletal aggregate myopathy (5.14)		TRIM54 (2p.23.3) Tripartite motif-containing 54
137	Cardiac and skeletal aggregate myopathy (5.14)		TRIM63 (1p36.11) Tripartite motif containing 63, E3 ubiquitin protein ligase
138	Cardiac arrhythmia syndrome, with or without skeletal muscle weakness (10.132)	615441	TRDN (6q22.31) Triadin
139	Cardiac conduction defect, progressive (10.138, 10.44, 10.177, 10.187, 10.167)	113900	SCN5A (3p22.2) Voltage-gated sodium channel type V alpha
140	cardiac valvular dysplasia, x-linked (10.114)	314400	FLNA (Xq28) Filamin A, alpha (actin binding protein 280)
141	Cardimyopathy, dilated, 1A (10.4, 3.53, 10.77, 10.113)	115200	MYBPC3 (11p11.2) Cardiac myosin binding protein-C
142	Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7)	160790	MYL3 (3p21.3-p21.2) Myosin light chain 3
143	cardiomyopathy, dilated 1C (5.5, 10.42, 4.19, 10.26, 10.106)	601493	LDB3 (10q22) LIM domain binding 3
144	Cardiomyopathy, dilated, 1A (1.3, 1.4, 10.40, 2.17, 14.88)	115200	LMNA (1q22) Lamin A/C
145	Cardiomyopathy, dilated, 1CC (10.67, 10.21)	613122	NEXN (1p32-p31 ) Nexilin(F-actin binding protein)
146	Cardiomyopathy, dilated, 1D (10.2, 10.43, 10.98, 10.109)	601494	TNNT2 (1q32) Troponin T2, cardiac
147	Cardiomyopathy, dilated, 1DD (10.68)	613172	RBM20 (10q25.3) RNA binding motif protein 20
148	Cardiomyopathy, dilated, 1E (10.138, 10.44, 10.177, 10.187, 10.167)	601154	SCN5A (3p22.2) Voltage-gated sodium channel type V alpha
149	Cardiomyopathy, dilated, 1EE (10.1, 10.69, 10.13, 10.189)	613252	MYH6 (14q12) Myosin heavy chain 6
150	Cardiomyopathy, dilated, 1FF (10.6, 10.96, 10.82, 10.70)	613286	TNNI3 (19q13.4) Troponin I, cardiac
151	Cardiomyopathy, dilated, 1G (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98)	604145	TTN (2q31) Titin
152	Cardiomyopathy, dilated, 1GG (10.71)	613642	SDHA (5p15) Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)
153	Cardiomyopathy, dilated, 1H (10.46)	604288	? - (2q14-q22)
154	Cardiomyopathy, dilated, 1J (10.48)	605362	EYA4 (6q23-24) Eyes absent 4
155	Cardiomyopathy, dilated, 1K (10.49)	605582	? - (6q12-q16)
156	Cardiomyopathy, dilated, 1M (10.51, 10.11)	607482	CSRP3 (11p15.1) Cysteine and glycine-rich protein 3 (cardiac LIM protein)
157	Cardiomyopathy, dilated, 1O (10.53, 10.169)	608569	ABCC9 (16p13.1) ATP-binding cassette, sub-family C (member 9)
158	Cardiomyopathy, dilated, 1P (10.54, 10.19)	609909	PLN (6q22.1) Phospholamban
159	Cardiomyopathy, dilated, 1Q (10.55)	609915	? - (7q22.3-q31.1)
160	Cardiomyopathy, dilated, 1R (10.56, 10.10, 10.107)	102540	ACTC1 (15q11-q14) Actin, alpha, cardiac muscle precursor
161	Cardiomyopathy, dilated, 1S (4.6, 3.32, 10.57, 3.51, 10.108, 3.33)	613426	MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta
162	Cardiomyopathy, dilated, 1T (10.58)	188380	TMPO (12q22) Lamina-associated polypeptide 2
163	Cardiomyopathy, dilated, 1U (10.59)	613694	PSEN1 (14q24.2) Presenilin 1
164	Cardiomyopathy, dilated, 1W (10.60)	613697	PSEN2 (1q42.13) Presenilin 2
165	Cardiomyopathy, dilated, 1W (10.14, 10.61)	611407	VCL (10q22.1-q23) Vinculin
166	Cardiomyopathy, dilated, 1X (2.35, 2.21, 10.62, )	611615	FKTN (9q31-q33) Fukutin
167	Cardiomyopathy, dilated, 1Y (10.3, 10.63, 10.112)	611878	TPM1 (15q22) Tropomyosin 1 (alpha)
168	Cardiomyopathy, dilated, 1Z (10.12, 10.64)	611879	TNNC1 (3p21.3-p14.3) Slow troponin C
169	Cardiomyopathy, dilated, 2B (10.83)	614672	GATAD1 (7q21-q22) GATA zinc finger domain containing 1
170	Cardiomyopathy, Dilated, 3B (1.1, 10.92)	302045	DMD (Xp21.2) Dystrophin
171	Cardiomyopathy, dilated, X-linked (1.1, 10.92)	302045	DMD (Xp21.2) Dystrophin
172	Cardiomyopathy, familial dilated, 1 (10.41)	600884	? - (9q13)
173	cardiomyopathy, familial hypertrophic (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16)	192600	CAV3 (3p25.3) Caveolin 3
174	cardiomyopathy, familial hypertrophic (10.15)	192600	MYLK2 (20q13.31) Myosin light chain kinase 2
175	Cardiomyopathy, familial hypertrophic (10.6, 10.96, 10.82, 10.70)	191044	TNNI3 (19q13.4) Troponin I, cardiac
176	Cardiomyopathy, familial hypertrophic 1 (10.1, 10.69, 10.13, 10.189)	192600	MYH6 (14q12) Myosin heavy chain 6
177	Cardiomyopathy, familial hypertrophic 20 (10.67, 10.21)		NEXN (1p32-p31 ) Nexilin(F-actin binding protein)
178	Cardiomyopathy, familial hypertrophic 27 (10.29)	618052	ALPK3 (15q25.3) Alpha kinase 3
179	cardiomyopathy, familial hypertrophic, 1, included (4.6, 3.32, 10.57, 3.51, 10.108, 3.33)	192600	MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta
180	Cardiomyopathy, familial hypertrophic, 10 (10.9, )	608758	MYL2 (12q23-q24.3) Myosin light chain 2
181	Cardiomyopathy, familial hypertrophic, 11 (10.56, 10.10, 10.107)	612098	ACTC1 (15q11-q14) Actin, alpha, cardiac muscle precursor
182	Cardiomyopathy, familial hypertrophic, 12 (10.51, 10.11)	612124	CSRP3 (11p15.1) Cysteine and glycine-rich protein 3 (cardiac LIM protein)
183	Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.61)	613255	VCL (10q22.1-q23) Vinculin
184	Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17)	613838	MYOZ2 (4q26) Myozenin 2, or calsarcin 1, a Z disk protein
185	Cardiomyopathy, familial hypertrophic, 17 (10.18, 10.86)	613873	JPH2 (20q13.12) Junctophilin-2
186	Cardiomyopathy, familial hypertrophic, 18 (10.54, 10.19)		PLN (6q22.1) Phospholamban
187	Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.43, 10.98, 10.109)	115195	TNNT2 (1q32) Troponin T2, cardiac
188	Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.8, 10.28, 10.100)	617047	FLNC (7q32) Filamin C, gamma (actin-binding protein - 280)
189	Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies (10.31)	620236	KLHL24 (3q27.1) Kelch-like 24
190	Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.63, 10.112)	115196	TPM1 (15q22) Tropomyosin 1 (alpha)
191	Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.53, 10.77, 10.113)	115197	MYBPC3 (11p11.2) Cardiac myosin binding protein-C
192	Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98)	188840	TTN (2q31) Titin
193	Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10)	600858	PRKAG2 (7q31) Protein kinase, AMP-activated, gamma 2 non-catalytic subunit
194	Cardiomyopathy, familial restrictive (10.6, 10.96, 10.82, 10.70)	115210	TNNI3 (19q13.4) Troponin I, cardiac
195	Cardiomyopathy, hypertrophic, 10 (10.9, )	160781	MYL2 (12q23-q24.3) Myosin light chain 2
196	Cardiomyopathy, X-linked dilated (10.91, 10.103)	300069	TAZ (Xq28) Tafazzin
197	Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.55)	254940	MYMK (9q34.2) Myomaker
198	Carey-Fineman-Ziter syndrome 2 (3.56)	619941	MYMX (6p21.1) Myomixer
199	Carnitine deficiency, systemic primary (9.19)	212140	SLC22A5 (5q31) Solute carrier family 22 member 5
200	Carnitine-acylcarnitine translocase deficiency (9.20)	212138	SLC25A20 (3p21.31) Carnitine-acylcarnitine translocase(M)
201	Central core disease (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)	117000	RYR1 (19q13.1) Ryanodine receptor 1 (skeletal)
202	Centronuclear myopathy 2 (3.20)	255200	BIN1 (2q14) Amphiphysin
203	Centronuclear myopathy 4 (3.21)	614807	CCDC78 (16p13.3) Coiled-coil domain-containing protein 78
204	Centronuclear myopathy 5 (3.22)	615959	SPEG (2q35) SPEG complex locus
205	Centronuclear myopathy 6 with fiber-type disproportion (3.23)	617760	MAP3K20 (2q31.1) Mitogen-activated protein kinase kinase 20
206	Centronuclear myopathy related to TTN (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98)		TTN (2q31) Titin
207	centronuclear myopathy, recessive (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)	255200	RYR1 (19q13.1) Ryanodine receptor 1 (skeletal)
208	Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.105)	212840	RNF216 (7p22.1) Ring finger protein 216
209	Cerebellar ataxia with neuropathy, hearing loss and intellectual disability (14.46, 16.65, 13.108)		AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1(M)
210	Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.27)	117360	? - (3p26)
211	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (14.128)	614575	RFC1 (4p14) Replication Factor C Subunit 1
212	Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.54, 7.10, 13.48)	108500	CACNA1A (19p13.13) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
213	Cerebellar ataxia, pure (7.9, 13.6, 13.54, 7.10, 13.48)	601011	CACNA1A (19p13.13) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
214	Chanarin-Dorfman syndrome (9.26)	275630	ABHD5 (3p25.3-p24.3) Abhydrolase domain containing 5
215	Charcot-Marie Tooth disease (14.41)		AHNAK2 (14q32) Ahnak nucleoprotein 2
216	Charcot-Marie Tooth disease related to CNTNAP1 (12.93, 14.42)		CNTNAP1 (17q21.2) Contactin-Associated Protein 1
217	Charcot-Marie Tooth disease, demyelinating type 1G (14.8)	618279	PMP2 (8q21.13) peripheral myelin protein-2
218	Charcot-Marie Tooth disease, intermediate (14.22)		CFAP276 (1p21.2-p13.3) Cilia- and flagella-associated protein 276
219	Charcot-Marie-Tooth disease with deafness and mental retardation (14.46, 16.65, 13.108)	310490	AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1(M)
220	Charcot-Marie-Tooth disease, axonal (14.98)		SGPL1 (10q22.1) Sphingosine-1-Phosphate Lyase 1
221	Charcot-Marie-Tooth disease, axonal (12.109, 14.102)		MCM3AP (21q22.3) Minichromosome maintenance 3-associated protein
222	Charcot-Marie-Tooth disease, axonal (15.39, 14.103)		B4GALNT1 (12q13.3) Beta-1,4-N-acetyl-galactosaminyl transferase 1
223	Charcot-Marie-Tooth disease, axonal (14.104)		MYO9B (19p13.11) Myosin IXB
224	Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.72, 14.82)		BAG3 (10q25.2-q26.2) BCL2-associated athanogene 3
225	Charcot-Marie-Tooth disease, axonal, related to CRYAB (5.2, 10.73, 14.85)		CRYAB (11q22.3-q23.1) Crystallin, alpha B
226	Charcot-Marie-Tooth disease, axonal, related to DHX9 (14.86)		DHX9 (1q25.3) DexH-box helicase 9
227	Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.83)		JAG1 (20p12.2) Jagged 1
228	Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC (14.137, 5.24, 14.84)		NOTCH2NLC (1q21.2) Notch2 N-terminal-like protein
229	Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.38, 14.99)		SCO2 (22q13.33) Cytochrome c oxidase assembly protein(M)
230	Charcot-Marie-Tooth disease, axonal, type 20 (14.67, 12.40)	614228	DYNC1H1 (14q32.31) Dynein, cytoplasmic 1, heavy chain 1
231	Charcot-Marie-Tooth disease, axonal, type 2A2B (14.55, 14.87, 14.79)	617087	MFN2 (1p36.22) Mitofusin 2(M)
232	Charcot-Marie-Tooth disease, axonal, type 2B1 (1.3, 1.4, 10.40, 2.17, 14.88)	605588	LMNA (1q22) Lamin A/C
233	Charcot-Marie-Tooth disease, axonal, type 2CC (12.78, 14.75)	616924	NEFH (22q12.2) Neurofilament, heavy polypeptide
234	Charcot-Marie-Tooth disease, axonal, type 2D (14.58, 12.28)	601472	GARS1 (7p15) Glycyl-tRNA synthetase
235	Charcot-Marie-Tooth disease, axonal, type 2DD (14.76, 14.14)	618036	ATP1A1 (1p13.1) ATPase, Na+/K+ transporting, alpha-1 polypeptide
236	Charcot-Marie-Tooth disease, axonal, type 2EE (14.90)	618400	MPV17 (2p23.3) MpV17 mitochondrial inner membrane protein(M)
237	Charcot-Marie-Tooth disease, axonal, type 2FF (14.77)	619519	CADM3 (1q23.2) Cell adhesion molecule 3
238	Charcot-Marie-Tooth disease, axonal, type 2N (12.38, 14.66)	613287	AARS (16q22.1) Alanyl-tRNA synthetase
239	Charcot-Marie-Tooth disease, axonal; related to SACS (15.93, 13.102, 14.100)		SACS (13q12) Sacsin
240	Charcot-Marie-Tooth disease, congenital, vertical talus (14.10)	192950	HOXD10 (2q31.1) Homeobox D10
241	Charcot-Marie-Tooth disease, dominant intermediate A (14.15, 12.46)	606483	GBF1 (10q24.32) Golgi-specific brefeldin-A resistance factor 1
242	Charcot-Marie-Tooth disease, dominant intermediate B (3.19, 2.15, 4.20, 14.16, 12.91)	606482	DNM2 (19p13.2) Dynamin 2
243	Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.51, 14.62, 14.63, 14.35, 14.18)	607791	MPZ (1q22) Myelin protein zero
244	Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.59, 14.21)	617882	NEFL (8p21) Neurofilament, light polypeptide 68kDa
245	Charcot-Marie-Tooth disease, intermediate, related to SARS1 (14.27)		SARS1 (1p13.3) Seryl-tRNA synthetase 1
246	Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.28, 14.64, 14.23)	214400	GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1
247	Charcot-Marie-Tooth disease, recessive intermediate, A (14.28, 14.64, 14.23)	608340	GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1
248	Charcot-Marie-Tooth disease, type 1, related to ATP1A1 (14.76, 14.14)		ATP1A1 (1p13.1) ATPase, Na+/K+ transporting, alpha-1 polypeptide
249	Charcot-Marie-Tooth disease, type 1A (14.1, 14.50, 14.5, 14.6)	118220	PMP22 (17p12-p11.2) Peripheral myelin protein 22
250	Charcot-Marie-Tooth disease, type 1B (14.2, 14.51, 14.62, 14.63, 14.35, 14.18)	118200	MPZ (1q22) Myelin protein zero
251	Charcot-Marie-Tooth disease, type 1D (14.4, 14.34, 14.52)	607678	EGR2 (10q21.1) Early growth response 2 protein
252	Charcot-Marie-Tooth disease, type 1E (14.1, 14.50, 14.5, 14.6)	118300	PMP22 (17p12-p11.2) Peripheral myelin protein 22
253	Charcot-Marie-Tooth disease, type 1F (14.7, 14.59, 14.21)	607734	NEFL (8p21) Neurofilament, light polypeptide 68kDa
254	Charcot-Marie-Tooth disease, type 2A1 (14.54)	118210	KIF1B (1p36.2) Kinesin family member 1B(M)
255	Charcot-Marie-Tooth disease, type 2B2 (14.89, 14.97)	605589	PNKP (19q13.33) polynucleotide kinase 3’-phosphatase
256	Charcot-Marie-Tooth disease, type 2E (14.7, 14.59, 14.21)	607684	NEFL (8p21) Neurofilament, light polypeptide 68kDa
257	Charcot-Marie-Tooth disease, type 2I (14.2, 14.51, 14.62, 14.63, 14.35, 14.18)	607677	MPZ (1q22) Myelin protein zero
258	Charcot-Marie-Tooth disease, type 2J (14.2, 14.51, 14.62, 14.63, 14.35, 14.18)	607736	MPZ (1q22) Myelin protein zero
259	Charcot-Marie-Tooth disease, type 2K (14.28, 14.64, 14.23)	607831	GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1
260	Charcot-Marie-Tooth disease, type 4A (14.28, 14.64, 14.23)	214400	GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1
261	Charcot-Marie-Tooth disease, type 4B1 (14.29)	601382	MTMR2 (11q22) Myotubularin-related protein 2
262	charcot-marie-tooth disease, type 4b2 (14.30)	604563	SBF2 (11p15.4) SET binding factor 2
263	Charcot-Marie-Tooth disease, type 4D (14.33)	601455	NDRG1 (8q24.3) N-myc downstream regulated gene 1
264	Charcot-Marie-Tooth disease, type 4F (14.36, 14.53)	145900	PRX (19q13) Periaxin
265	charcot-marie-tooth disease, type 4j (14.39, 12.62)	611228	FIG4 (6q21) Sac domain-containing inositol phosphatase 3
266	Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.46, 16.65, 13.108)	310490	AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1(M)
267	Charcot-Marie-Tooth disease, X-linked recessive related to DRP2 (14.49)		DRP2 (Xq22.1) Dystrophin-related protein 2
268	charcot-marie-tooth disease, x-linked recessive, 2 (14.44)	302801	? - (Xp22.2)
269	charcot-marie-tooth disease, x-linked recessive, 3 (14.45)	302802	78 kb Chro8 insertion (Xq26) 78 kb inter-chromosomal insertion (from chro 8q24.3)
270	charcot-marie-tooth disease, x-linked recessive, 5 (14.47)	311070	PRPS1 (Xq21.32-q24) Phosphoribosyl pyrophosphate synthetase 1
271	Charcot-Marie-Tooth neuropathy (14.13)		ITPR3 (6q21.31) Inositol 1,4,5-triphosphate receptor, type 3
272	Charcot-Marie-Tooth neuropathy (14.9)	619742	POLR3B (12q23.3) Polymerase III, RNA, Subunit B
273	Charcot-Marie-Tooth neuropathy Type 2B (14.56)	600882	RAB7A (3q21) RAB7, member RAS oncogene family
274	Charcot-Marie-Tooth neuropathy Type 2F (14.60, 12.26)	606595	HSPB1 (7q11.23) Heat shock 27kDa protein 1
275	Charcot-Marie-Tooth neuropathy Type 2H (14.61)	607731	? - (8q21.3)
276	Charcot-Marie-Tooth neuropathy Type 2L (14.65, 12.25, 4.27, 4.28)	608673	HSPB8 (12q24.23) Heat shock 27kDa protein 8
277	Charcot-Marie-Tooth neuropathy Type 2P (14.68)	614436	LRSAM1 (9q33.3) Leucine rich repeat and sterile alpha motif containing 1
278	Charcot-Marie-Tooth neuropathy Type 2Q (14.69)	615025	DHTKD1 (10p14) Dehydrogenase E1 and transketolase domain containing 1(M)
279	Charcot-Marie-Tooth neuropathy Type 2R (14.93)	615490	TRIM2 (4q31.3) Tripartite motif containing 2
280	Charcot-Marie-Tooth neuropathy Type 2T (14.95, 13.40)	617017	MME (3q25.2) Membrane metallo-endopeptidase
281	Charcot-Marie-Tooth neuropathy Type 2U (14.70, 15.65)	616280	MARS1 (12q13.3) Methionyl-tRNA synthetase
282	Charcot-Marie-Tooth neuropathy Type 2V (14.71)	616491	NAGLU (17q21.2) N-acetyl-alpha-glucosaminidase
283	Charcot-Marie-Tooth neuropathy Type 2W (14.72)	616625	HARS (5q31.3) Histidyl-tRNA synthetase
284	Charcot-Marie-Tooth neuropathy Type 2X (15.30, 12.56, 14.96)	616668	SPG11 (15q21.1) SPG11 vesicle trafficking associated, Spatacsin
285	Charcot-Marie-Tooth neuropathy Type 2Y (5.35, 4.22, 12.65, 1.58, 14.73)	616687	VCP (9p13-p12) Valosin-containing protein
286	Charcot-Marie-Tooth neuropathy Type 2Z (14.74)	616688	MORC2 (2q12.2) MORC family CW-type zinc finger 2
287	Charcot-Marie-Tooth neuropathy Type 4B3 (14.31)		SBF1 (22q13.33) SET binding factor 1
288	Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.34, 14.52)	605253	EGR2 (10q21.1) Early growth response 2 protein
289	Charcot-Marie-Tooth neuropathy Type 4F (14.32)	601596	SH3TC2 (5q32) KIAA1985 protein
290	Charcot-Marie-Tooth neuropathy Type 4G (14.37)	605285	HK1 (10q22.1) Hexokinase 1(M)
291	Charcot-Marie-Tooth neuropathy Type 4H (14.38)	609311	FGD4 (12p11.21) Actin-filament binding protein Frabin
292	Charcot-Marie-Tooth neuropathy Type 4K (14.40)		SURF1 (9q34.2) Surfeit 1(M)
293	Charcot-Marie-Tooth neuropathy Type F (14.20)	615185	GNB4 (3q28-q29) Guanine nucleotidebinding protein, beta-4
294	Charcot-Marie-Tooth neuropathy with glomerulopathy (14.19)	614455	INF2 (14q32-33) Inverted formin 2
295	Charcot-Marie-Tooth neuropathy X-linked 6 (14.48)		PDK3 (Xp22.11) Pyruvate dehydrogenase kinase, isoenzyme 3(M)
296	charcot-marie-tooth neuropathy, dominant intermediate A (	606483	? - (10q24.1-q25.1)
297	Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.17)	608323	YARS (1p35.1) Tyrosyl-tRNA synthetase
298	Charcot-Marie-Tooth neuropathy, with fibulin defect (14.12)		FBLN5 (14q32.12) Fibulin 5 (extra-cellular matrix)
299	Charcot-Marie-Tooth neuropathy, X-linked (14.43, 14.52)	302800	GJB1 (Xq13.1) Gap junction protein, beta 1, 32kDa (connexin 32)
300	Charlevoix disease (14.129)	218000	SLC12A6 (15q13-q15) Potassium chloride cotransporter KCC3
301	CMT recessive intermediate D (14.26)	616039	COX6A1 (12q24.31) Cytochrome c oxidase subunit VIa polypeptide 1(M)
302	CMT2 related to KIF5A (15.6, 14.80, 12.76)		KIF5A (12q13.13) Kinesin family member 5A
303	Coenzyme Q10 deficiency (13.110)	619028	COQ5 (12q24.31) Coenzyme Q5 Methyltransferase(M)
304	Coenzyme Q10 deficiency 1 (16.74)	607426	COQ2 (4q21.23) Coenzyme Q2(M)
305	Coenzyme Q10 deficiency 5 (16.76)	614654	COQ9 (16q21) Coenzyme Q9(M)
306	Coenzyme Q10 deficiency 6 (16.77)	614650	COQ6 (14q24.3) Coenzyme Q6(M)
307	Coenzyme Q10 deficiency 7 (16.78)		COQ4 (9q34.11) Coenzyme Q4(M)
308	Coenzyme Q10 deficiency 8 (16.79, 12.21)	616733	COQ7 (16p12.3) Coenzyme Q7(M)
309	COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11)		COL12A1 (6q13-q14) Collagen type XII alpha 1 chain
310	Combined oxidative phosphorylation deficiency (16.68)	619012	NSUN3 (3q11.2) NOP2/SUN RNA Methyltransferase Family Member 3
311	Combined oxidative phosphorylation deficiency 43 (16.66)	618851	TIMM22 (17q13.3) Translocase of inner mitochondrial membrane 22(M)
312	Combined oxidative phosphorylation deficiency 44 (16.67)	618855	FASTKD2 (2q33.3) Fast Kinase Domains 2
313	Combined oxidative phosphorylation deficiency 50 (16.69)	619025	MRPS25 (3p25.1) Mitochondrial ribosomal protein S25(M)
314	Combined Oxidative phosphorylation Deficiency 6 (14.46, 16.65, 13.108)	300816	AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1(M)
315	Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.100, 14.135, 12.22)		VRK1 (14q32) Vaccinia related kinase 1
316	Congenital amyotrophy (5.50)		CACNA1H (16p13.3) Calcium channel, voltage-dependent, T type, aplpha-1H subunit
317	congenital cataracts, facial dysmorphism, and neuropathy (14.134)	604168	CTDP1 (18q23) CTD phosphatase subunit 1
318	Congenital disorder of glycosylation type 1 (2.42)	609180	MPDU1 (17p13.1) Mannose-P-dolichol utilization defect 1
319	Congenital muscle dystrophy with mitochondrial structural abnormalities (2.44)	602541	CHKB (22q13) Choline kinase beta
320	Congenital muscular dystrophy (2.45)	604801	? - (1q42)
321	Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.43)		DPM2 (9q34.13) Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
322	Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.3, 1.4, 10.40, 2.17, 14.88)		LMNA (1q22) Lamin A/C
323	Congenital muscular dystrophy related to TRAPPC2L (2.54)		TRAPPC2L (16q24.3) Trafficking protein particle complex 2-like
324	Congenital muscular dystrophy with epilepsy (2.53)		BET1 (7q21.3 ) BET1 golgi vesicular membrane-trafficking protein
325	Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.36, 2.51)		TRAPPC11 (4q35.1) Trafficking protein particle complex 11
326	Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.41)	608799	DPM1 (20q13.13) Dolichyl-phosphate mannosyltransferase 1, catalytic subunit
327	Congenital muscular dystrophy with hypoglycosylation of dystroglycan (	300884	ALG13 (Xq23) UDP-N-acetylglucosami-nyltransferase
328	Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.29, 1.54)	615249	POMK (8p11.21) Protein-O-mannose kinase
329	Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.27)	615041	RXYLT1 (12q14.2) Ribitol xylosyltransferase 1 (transmembrane protein 5)
330	Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.53, 2.26)	616538	DAG1 (3p21) Dystroglycan1
331	Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.28)	615181	B3GALNT2 (1q42.3) Beta-1,3-N-acetylgalacto-saminyltransferase 2
332	Congenital muscular dystrophy with integrin defect (2.14)		ITGA7 (12q13) Integrin alpha 7 precursor
333	Congenital muscular dystrophy with merosin deficiency (2.45)	604801	? - (1q42)
334	Congenital musuclar dystrophy with telethonin defect (1.31, 10.52, 2.16, 10.27)		TCAP (17q12) Telethonin
335	Congenital myasthenic syndrome (11.25)	616304	LRP4 (11p11.2) LDL receptor related protein 4
336	Congenital myasthenic syndrome (1.9, 11.41)		TOR1AIP1 (1q25.2) Torsin A interacting protein 1
337	Congenital myasthenic syndrome (11.42)		CHD8 (14q11.2) Chromodomain Helicase DNA-Binding Protein 8
338	Congenital Myasthenic syndrome related to GMPPB (1.55, 2.38, 2.31, 11.37)		GMPPB (3p21.31) GDP-mannose pyrophosphorylase B
339	Congenital myasthenic syndrome related to MuSK (11.17, 16.27)	608931	MUSK (9q31.3-q32) Muscle, skeletal, receptor tyrosine kinase
340	Congenital myasthenic syndrome related to RPH3A (11.40)		RPH3A (12q23.3) Rabphilin 3A
341	Congenital myasthenic syndrome type 19 (11.27)	616720	COL13A1 (10q22.1) Collagen type XIII alpha 1 chain
342	Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.13)	254210	CHAT (10q11.2) Choline acetyltransferase isoform
343	Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.12)	603034	COLQ (3p25) Acetylcholinesterase collagen-like tail subunit
344	Congenital myasthenic syndrome with episodic apnea (11.28, 12.30)	617143	SLC5A7 (2q12.31) Solute carrier family 5 (sodium/choline cotransporter), member 7
345	Congenital myasthenic syndrome with intellectual disability and ataxia (11.26)	616330	SNAP25 (20p12.2) Synaptosome associated protein 25
346	Congenital myasthenic syndrome with nephrotic syndrome (11.34)	614199	LAMB2 (3p21) Laminin, beta 2 (laminin S)
347	Congenital myopathy 10A, severe variant (3.38, 3.37)	614399	MEGF10 (5q23.2) Multiple EGF-like-domains 10
348	Congenital myopathy 10B, mild variant (3.38, 3.37)	620249	MEGF10 (5q23.2) Multiple EGF-like-domains 10
349	Congenital Myopathy 11 (10.120, 3.39)	619967	HACD1 (10p12.33) Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase
350	Congenital myopathy 12 (3.40)	612540	CNTN1 (12q11-q12) Contactin-1
351	Congenital myopathy 13 (3.41, 3.57)	255995	STAC3 (12q13.3) SH3 and cysteine rich domain 3
352	Congenital myopathy 14 (3.42)	618414	MYL1 (2q34) Myosin, light polypeptide 1, alkali, skeletal fast
353	Congenital myopathy 15 (3.43)	620161	TNNC2 (20q13.12) Troponin C Fast
354	Congenital myopathy 16 (16.10, 12.90, 3.44)	618524	MYBPC1 (12q23.2) Myosin-binding proteinC, slow type
355	Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)	117000	RYR1 (19q13.1) Ryanodine receptor 1 (skeletal)
356	Congenital myopathy 1B, recessive (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)	255320	RYR1 (19q13.1) Ryanodine receptor 1 (skeletal)
357	Congenital Myopathy 22A, classic (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49)	620351	SCN4A (17q23-q25.3) Sodium channel, voltage-gated, type IV, alpha
358	Congenital Myopathy 22B, severe fetal (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49)	620369	SCN4A (17q23-q25.3) Sodium channel, voltage-gated, type IV, alpha
359	Congenital myopathy 2A, typical (3.2, 3.52, 3.1, 3.3)	161800	ACTA1 (1q42.1) Alpha actin, skeletal muscle
360	Congenital myopathy 2B, severe infantile (3.2, 3.52, 3.1, 3.3)	161800	ACTA1 (1q42.1) Alpha actin, skeletal muscle
361	Congenital myopathy 2C, severe infantile, dominant (3.2, 3.52, 3.1, 3.3)	620278	ACTA1 (1q42.1) Alpha actin, skeletal muscle
362	Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98)	611705	TTN (2q31) Titin
363	Congenital myopathy 6 with ophtalmoplegia (3.31)	605637	MYH2 (17p13.1) Myosin, heavy polypeptide 2, skeletal muscle
364	Congenital myopathy 7A, myosin storage, autosomal dominant (4.6, 3.32, 10.57, 3.51, 10.108, 3.33)	608358	MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta
365	Congenital myopathy 7B, myosin storage, autosomal recessive (4.6, 3.32, 10.57, 3.51, 10.108, 3.33)	255160	MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta
366	Congenital myopathy 8 (10.65, 10.25, 3.34, 4.10)	618654	ACTN2 (1q42-q43) Actinin alpha2
367	Congenital myopathy 9A (3.35, 3.36)	618822	FXR1 (3q26.33) FMR1 autosomal homolog
368	Congenital myopathy 9B, proximal with minicore (3.35, 3.36)	618823	FXR1 (3q26.33) FMR1 autosomal homolog
369	Congenital Myopathy related to PYROXD1 (5.9, 1.60, 3.59)		PYROXD1 (12p12.1) Pyridine nucleotidedisulphide oxidoreductase domain 1
370	Congenital Myopathy related to TNPO3 (1.17, )		TNPO3 (7q32.1-q32.2) Transportin 3
371	Congenital myopathy with fatal cardiomyopathy (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98)		TTN (2q31) Titin
372	Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.54, 1.24, 3.46)		CACNA1S (1q32) Calcium channel, voltage-dependent, L type, alpha 1S subunit
373	congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.53, 10.77, 10.113)		MYBPC3 (11p11.2) Cardiac myosin binding protein-C
374	CPT deficiency, hepatic, type II (9.18)	600649	CPT2 (1p32) Carnitine palmitoyltransferase II(M)
375	CRASH syndrome (15.84)	303350	L1CAM (Xq28) L1 cell adhesion molecule
376	CRASH syndrome (15.84)	307000	L1CAM (Xq28) L1 cell adhesion molecule
377	Creatine phosphokinase, elevated serum (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16)	123320	CAV3 (3p25.3) Caveolin 3
378	Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16)	123320	CAV3 (3p25.3) Caveolin 3
379	Danon disease (5.18)	300257	LAMP2 (Xq24) Lysosomal-associated membrane protein 2 precursor
380	Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.48)	601316	EYA4 (6q23-24) Eyes absent 4
381	Dejerine-Sottas neuropathy, autosomal recessive (14.36, 14.53)	145900	PRX (19q13) Periaxin
382	Dejerine-Sottas syndrome (14.2, 14.51, 14.62, 14.63, 14.35, 14.18)	145900	MPZ (1q22) Myelin protein zero
383	Dejerine-Sottas syndrome (14.4, 14.34, 14.52)	145900	EGR2 (10q21.1) Early growth response 2 protein
384	Dejerine-Sottas Syndrome (14.1, 14.50, 14.5, 14.6)	145900	PMP22 (17p12-p11.2) Peripheral myelin protein 22
385	Desmin-related myopathy (5.1, 10.47, 5.15, 10.135, 11.44)	601419	DES (2q35) Desmin
386	Desmin-related myopathy with Mallory bodies (2.13, 5.13, )	602771	SELENON (1p36.13) Selenoprotein N1
387	Developmental delay with hypotonia, myopathy and brain abnormalities (2.46)	620240	GOLGA2 (9q34.113) Golgin A2
388	Dilated cardiomyopathy realted to GATAD1 (10.83)		GATAD1 (7q21-q22) GATA zinc finger domain containing 1
389	Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.73, 14.85)		CRYAB (11q22.3-q23.1) Crystallin, alpha B
390	Dilated cardiomyopathy related to BAG3 (5.7, 10.72, 14.82)	613881	BAG3 (10q25.2-q26.2) BCL2-associated athanogene 3
391	Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.81, 10.22)		ANKRD1 (10q23.31) Ankyrin repeat domain 1 (cardiac muscle)
392	Dilated Cardiomyopathy related to DOLK (10.95)	610768	DOLK (9q34.13) Dolichol kinase
393	Dilated cardiomyopathy related to integrin-linked kinase (10.80)	602366	ILK (11p15.5-p15.4) Integrin-linked kinase
394	Dilated cardiomyopathy related to laminin-alpha4 (10.74)	600133	LAMA4 (6q21) Laminin alpha 4
395	Dilated cardiomyopathy related to MURC (10.94)		MURC (9q31.1) Muscle-related coiled-coil protein
396	Dilated cardiomyopathy related to MYBPC3 (10.4, 3.53, 10.77, 10.113)		MYBPC3 (11p11.2) Cardiac myosin binding protein-C
397	Dilated cardiomyopathy related to nesprin-1 (1.5, 13.68, 16.23, 10.93)		SYNE1 (6q25) Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
398	Dilated cardiomyopathy related to PRDM16 (10.76, 10.111)	615373	PRDM16 (1p36.32) PR Domain-Containing Protein 16
399	Dilated cardiomyopathy related to RAF1 (10.78)	615916	RAF1 (3p25.2) V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1
400	dilated cardiomyopathy, 1aa (10.65, 10.25, 3.34, 4.10)	612158	ACTN2 (1q42-q43) Actinin alpha2
401	Dilated cardiomyopathy, 1F (	601419	? - (6q23)
402	Dilated cardiomyopathy, 1I (5.1, 10.47, 5.15, 10.135, 11.44)	604765	DES (2q35) Desmin
403	Dilated Cardiomyopathy, 1L (1.30, 10.50)	606685	SGCD (5q33-q34) Delta-sarcoglycan
404	Dilated cardiomyopathy, 1N (1.31, 10.52, 2.16, 10.27)		TCAP (17q12) Telethonin
405	Dilated cardiomyopathy, 1OO (10.79)	620247	VEZF1 (17q22) Vascular endothelial zing finger 1
406	Dilated cardiomyopathy, 2C (10.84)	618189	PPCS (1p34.2) Phosphopantothenosylcystein synthetase
407	Dilated cardiomyopathy, 2D (10.85)	619371	RPL3L (16p13.3) Ribosomal protein L3-like
408	Dilated cardiomyopathy, 2E (10.18, 10.86)	619492	JPH2 (20q13.12) Junctophilin-2
409	Dilated cardiomyopathy, 2F (10.87)	619747	BAG5 (14q32.33) Bag cochaperone
410	Dilated cardiomyopathy, 2G (10.88)	619897	LMOD2 (7q31.32) Leiomodin 2
411	Dilated cardiomyopathy, 2H (10.89)	620203	GET3 (19p13.13) Guided entry of tail-anchored proteins factor 3, ATPase
412	Dilated cardiomyopathy, 2I (10.90)	620462	CAP2 (6p22.3) Cyclase associated actin cytoskeltin regulatory protein 2
413	Dilated cardiomyopathy, related to DSG2 (10.123, 10.66)	612877	DSG2 (18q12.1) Desmoglein 2
414	Distal hereditary motor neuropathies (14.15, 12.46)		GBF1 (10q24.32) Golgi-specific brefeldin-A resistance factor 1
415	Distal motor neuropathy (12.34)		SPTAN1 (9q34.11) Spectrin, alpha, nonerythrocytic 1
416	Distal motor neuropathy related to SYT2 (11.14, 12.45, 11.15)		SYT2 (1q32.1) Synaptotagmin II
417	Distal Myopathy (4.26)		PLIN4 (19p13.3) Perilipin 4
418	Distal myopathy with nebulin defect (3.6, 4.17, 4.18)		NEB (2q22) Nebulin
419	Distal Spinal Muscular Atrophy with Calf Predominance (12.29)	615575	FBXO38 (5q32) F-box protein 38
420	Distal spinal muscular atrophy, type VB (15.14, 12.35, 12.18)	614751	REEP1 (2p11.2) Receptor accessory protein 1(M)
421	Duchenne muscular dystrophy (1.1, 10.92)	310200	DMD (Xp21.2) Dystrophin
422	Dusty core disease related to RYR1 (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)	180901	RYR1 (19q13.1) Ryanodine receptor 1 (skeletal)
423	Dysmyelinating leukodystrophy (15.44)	612319	FA2H (16q21-q23.1) Fatty acid 2-hydroxylase
424	Dyssegmental dysplasia, Silverman-Handmaker type (6.8)	224410	HSPG2 (1p36.1-p34) Perlecan
425	Dystrophia myotonica (6.1)	160900	DMPK (19q13.3) Myotonic dystrophy protein kinase
426	Early onset axonal neuropathy with sensory ataxia (14.81)		DGAT2 (1q13.3) Diacylglycerol O-acyltransferase 2
427	Early onset distal myopathy with KLHL9 mutations (4.21)		KLHL9 (9p21.2-p22.3) Kelch-like homologue 9
428	Early-onset axonal Charcot-Marie-Tooth with ataxia (14.89, 14.97)		PNKP (19q13.33) polynucleotide kinase 3’-phosphatase
429	Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.60, 3.59)		PYROXD1 (12p12.1) Pyridine nucleotidedisulphide oxidoreductase domain 1
430	Emery-Dreifuss Autosomal recessive (1.3, 1.4, 10.40, 2.17, 14.88)	181350	LMNA (1q22) Lamin A/C
431	Emery-dreifuss muscular dystrophy 1 (1.2)	310300	EMD (Xq28) Emerin
432	Emery-dreifuss muscular dystrophy 4 (1.5, 13.68, 16.23, 10.93)	612998	SYNE1 (6q25) Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
433	Emery-dreifuss muscular dystrophy 6 (1.7, 5.31, 5.32, 5.33)	300696	FHL1 (Xq26.3) Four and a half LIM domain 1
434	Emery-dreifuss muscular dystrophy 7 (10.119, 1.8)	614302	TMEM43 (3p25.1) Transmembrane protein 43
435	Emery-Dreifuss muscular dystrophy, autosomal dominant (1.3, 1.4, 10.40, 2.17, 14.88)	181350	LMNA (1q22) Lamin A/C
436	Endocardial fibroelastosis-2 (10.91, 10.103)	300394	TAZ (Xq28) Tafazzin
437	Enolase deficiency (9.16)	131370	ENO3 (17pter-p11) Enolase 3, beta muscle specific
438	Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.27, 1.35, 11.36, 1.59)	226670	PLEC (8q24.3) Plectin
439	episodic ataxia type 5, included (13.50)	601949	CACNB4 (2q22-q23) Calcium channel, voltage-dependent, beta 4 subunit
440	episodic ataxia type 6 (13.51)	612656	SLC1A3 (5p13) EAAT1 (excitatory amino acid transporter type 1)
441	episodic ataxia type-3 (13.49)	606554	? - (1q42)
442	episodic ataxia type-7 (13.52)	611907	? - (19q13)
443	Episodic ataxia type-9 (13.53)		SCN2A (2q24.3) Sodium voltage-gated channel, alpha subunit 2; SCN2A
444	Episodic ataxia with myokymia (7.12)	160120	KCNA1 (12p13) Potassium voltage-gated channel, shaker-related subfamily, member 1
445	Episodic ataxia, type 2 (7.9, 13.6, 13.54, 7.10, 13.48)	108500	CACNA1A (19p13.13) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
446	episodic muscle weakness, x-linked (5.34)	300211	? - (Xp22.3)
447	Episodic pain syndrome, familial 3 (14.116, 14.126)	615552	SCN11A (3p22.2) Sodium voltage-gated channel alpha subunit 11
448	Erythrocyte lactate transporter defect (9.17)	245340	SLC16A1 (1p13.2) Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)
449	Erythromelalgia, Primary (14.111, 14.125)	133020	SCN9A (2q24.3) Sodium voltage-gated channel alpha subunit 9
450	Escobar syndrome (multiple pterygium syndrome) (11.35)	265000	CHRNG (2q33-q34) Cholinergic receptor, nicotinic, gamma polypeptide
451	Exertional myoglobinuria due to deficiency of LDH-A (9.15)	150000	LDHA (11p15.4) Lactate dehydrogenase A
452	Facio-scapulo-humeral muscular dystrophy (1.12)	619477	LRIF1 (1p13.3) Ligand-Dependent Nuclear Receptor-Interacting Factor 1
453	Facio-scapulo-humeral muscular dystrophy, type 2 (1.11)	158901	SMCHD1 (18p11.32) Structural maintenance of chromosomes flexible hinge domain containing 1
454	Familial amyloid neuropathy (16.4)		TTR (18q12.1) Transthyretin (prealbumin, amyloidosis type I)
455	Familial amyotrophic lateral sclerosis (4.13, 12.72)	606070	MATR3 (5q31) Matrin 3
456	Familial brachial plexus neuropathy (14.131)	162100	SEPT9 (17q25) Septin 9
457	Familial dysautonomia (Riley-Day syndrome) (16.3, 14.112)	223900	ELP1 (9q31.3) Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
458	Familial hypertrophic cardiomyopathy, 13 (10.12, 10.64)	613243	TNNC1 (3p21.3-p14.3) Slow troponin C
459	Familial hypertrophic cardiomyopathy, 14 (10.1, 10.69, 10.13, 10.189)	613251	MYH6 (14q12) Myosin heavy chain 6
460	Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 (11.21)	614750	DPAGT1 (11q23.3) Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
461	Familial limb girdle myasthenia related to agrin (11.16, 16.32)	254300	AGRN (1p36.33) Agrin
462	Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.20)	610542	GFPT1 (2p12-p15) Glutamine-fructose-6-phosphate transaminase 1
463	Familial limb-girdle myasthenia related to DOK7 (11.18, 16.28)	254300	DOK7 (4p16.2) Docking protein 7
464	familial sinusal bradycardia (10.188, 10.184)	163800	HCN4 (3p22.2) Hyperpolarization activated cyclic nucleotide-gated potassium channel 4
465	Familial spastic paraplegia, autosomal dominant, 2 (15.2)	182601	SPAST (2p24-p21) Spastin
466	Fatty aldehyde dehydrogenase (15.80)	270200	ALDH3A2 (17p11.2) Aldehyde dehydrogenase 3A2
467	Fetal akinesia deformation related to AGRN (11.16, 16.32)		AGRN (1p36.33) Agrin
468	Fetal akinesia deformation sequance with MUSK defect (11.17, 16.27)	208150	MUSK (9q31.3-q32) Muscle, skeletal, receptor tyrosine kinase
469	Fetal akinesia deformation sequence 2 (11.19, 16.29)	618388	RAPSN (11p11.2-p11.1) Rapsyn
470	Fetal akinesia deformation sequence 3 (11.18, 16.28)	618389	DOK7 (4p16.2) Docking protein 7
471	Fetal akinesia deformation sequence 4 (16.30)	618393	NUP88 (17p13.2) Nucleoporin 88kD
472	Fetal akinesia deformation sequence related to RYR1 (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)		RYR1 (19q13.1) Ryanodine receptor 1 (skeletal)
473	Fibrodysplasia ossificans progressiva (5.29)	135100	ACVR1 (2q23-q24) Activin A receptor, type II-like kinase 2
474	Fibrosis of extraocular muscles, congenital, 1 (16.5)	135700	KIF21A (12q12) Kinesin family member 21A
475	Fibrosis of extraocular muscles, congenital, 2 (16.6)	602078	PHOX2A (11q13.2) Paired-like aristaless homeobox protein 2A
476	Fibrosis of extraocular muscles, congenital, 3 (16.7)	600638	TUBB3 (16q24.3) Tubulin, beta 3
477	Fibrosis of extraocular muscles, congenital, 5 (16.8)	616219	COL25A1 (4q25) Collagen, type XXV, alpha-1
478	Friedreich ataxia (13.57)	229300	FXN (9q13-q21.1) Frataxin(M)
479	friedreich ataxia 2 (13.58)	601992	? - (9p23-p11)
480	Friedreich ataxia with retained reflexes (13.57)	229300	FXN (9q13-q21.1) Frataxin(M)
481	fukuyama congenital muscular dystrophy (2.35, 2.21, 10.62, )	253800	FKTN (9q31-q33) Fukutin
482	Galloway-Mowat syndrome 1 (13.65)	251300	WDR73 (15q24-q26) WD Repeat-Containing Protein 73
483	Giant axonal neuropathy 2 (14.133)	610100	DCAF8 (1q23.2) DDB1 and CUL4 associated factor 8
484	Giant axonal neuropathy-1 (14.132)	256850	GAN1 (16q23.2) Gigaxonin
485	Glycogen branching enzyme deficiency (9.3)	232500	GBE1 (3p12) Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
486	Glycogen storage disease II (9.1, 10.102, )	232300	GAA (17q25.2-q25.3) Acid alpha-glucosidase preproprotein
487	Glycogen storage disease IIb (5.18)	300257	LAMP2 (Xq24) Lysosomal-associated membrane protein 2 precursor
488	glycogen storage disease of heart, lethal congenital (10.5, 9.10)	261740	PRKAG2 (7q31) Protein kinase, AMP-activated, gamma 2 non-catalytic subunit
489	glycogen storage disease type 0 (9.9)	611556	GYS1 (19q13.3) Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)
490	Glycogen storage disease type IIIa (9.2)	232400	AGL (1p21) Amylo-1,6-glucosidase, 4-alpha-glucanotransferase
491	Glycogen storage disease type IIIb (9.2)	232400	AGL (1p21) Amylo-1,6-glucosidase, 4-alpha-glucanotransferase
492	Glycogen storage disease type IIIc (9.2)	232400	AGL (1p21) Amylo-1,6-glucosidase, 4-alpha-glucanotransferase
493	Glycogen storage disease type IIId (9.2)	232400	AGL (1p21) Amylo-1,6-glucosidase, 4-alpha-glucanotransferase
494	Glycogen storage disease VII (9.5)	232800	PFKM (12q13.3) Phosphofructokinase, muscle
495	Glycogen storage disease X (9.14)	261670	PGAM2 (7p13-p12) Phosphoglycerate mutase 2 (muscle)
496	Glycogen storage disease XI (9.15)	612933	LDHA (11p15.4) Lactate dehydrogenase A
497	Glycogen storage disease XIII (9.16)	612932	ENO3 (17pter-p11) Enolase 3, beta muscle specific
498	Glycogen storage disease XIV (9.7)	612934	PGM1 (1p31) Phosphoglucomutase 1
499	Glycogen storage disease XV (9.8, 9.12)	613507	GYG1 (3q24) Glycogenin 1
500	glycogen storage disease, type IXD (9.6)	300569	PHKA1 (Xq13) Phosphorylase b kinase, alpha submit
501	Hereditary bundle branch system defect (10.138, 10.44, 10.177, 10.187, 10.167)	113900	SCN5A (3p22.2) Voltage-gated sodium channel type V alpha
502	Hereditary motor and sensory neuropathy – Lom (with deafness) (14.33)	601455	NDRG1 (8q24.3) N-myc downstream regulated gene 1
503	Hereditary motor and sensory neuropathy 2A (14.55, 14.87, 14.79)	609260	MFN2 (1p36.22) Mitofusin 2(M)
504	Hereditary motor and sensory neuropathy V (12.39)	600361	? - (4q34.3-q35.2)
505	Hereditary motor and sensory neuropathy, type VIA with optic atrophy (14.55, 14.87, 14.79)	601152	MFN2 (1p36.22) Mitofusin 2(M)
506	Hereditary motor and sensory, neuropathy, proximal, type (14.78, 15.60)	604484	TFG (3q13) TRK-fused gene
507	Hereditary motor and sensory, type 1C (14.3)	601098	LITAF (16p13.3-p12) Lipopolysaccharide-induced TNF factor
508	Hereditary myopathy with early respiratory failure (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98)	603689	TTN (2q31) Titin
509	Hereditary peripheral neuropathy (14.138)		SLC9A3R1 (17q25.1) Solute carrier family 9, member 3, regulator 1
510	hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.107)		? - (3p24-p22)
511	Hereditary sensory and autonomic neuropathy type IV (14.113)	256800	NTRK1 (1biq23.1) neurotrophic receptor tyrosine kinase 1
512	Hereditary sensory and autonomic neuropathy type VI (14.115)	614653	DST (6p12.1) Dystonin
513	Hereditary sensory and autonomic neuropathy type VIII (14.117)	616488	PRDM12 (9q34.12) PR/SET domain 12 (positive regulatory domain zinc finger protein 12)
514	Hereditary sensory neuropathy type IF (14.120)	615632	ATL3 (11q13.1) atlastin GTPase 3
515	Hereditary sensory neuropathy with dementia and hearing loss (14.119)		DNMT1 (19p13.2) DNA (cytosine-5)-methyltransferase 1
516	Hereditary sensory neuropathy, type IIB (14.110)	613115	RETREG1 (5p15.1) Family with sequence similarity 134 member B
517	Hutchinson-Gilford progeria syndrome (1.3, 1.4, 10.40, 2.17, 14.88)	176670	LMNA (1q22) Lamin A/C
518	Hydrocephalus with Hirschspung disease and cleft palate (15.84)	142623	L1CAM (Xq28) L1 cell adhesion molecule
519	Hyperckemia, idiopathic (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16)	123320	CAV3 (3p25.3) Caveolin 3
520	Hyperkalemic periodic paralysis (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49)	170500	SCN4A (17q23-q25.3) Sodium channel, voltage-gated, type IV, alpha
521	Hyperkalemic periodic paralysis, type 2 (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49)	613345	SCN4A (17q23-q25.3) Sodium channel, voltage-gated, type IV, alpha
522	Hypertrophic cardiomyopathy related calreticulin 3 (10.20)	613875	CALR3 (19p13.11) Calreticulin 3
523	Hypertrophic cardiomyopathy related to actinin-2 (10.65, 10.25, 3.34, 4.10)		ACTN2 (1q42-q43) Actinin alpha2
524	Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.81, 10.22)		ANKRD1 (10q23.31) Ankyrin repeat domain 1 (cardiac muscle)
525	Hypertrophic cardiomyopathy related to cardiac myopalladin (10.75, 3.14, 10.24, 10.99)	615248	MYPN (10q21.1) Myopalladin
526	Hypertrophic cardiomyopathy related to junctophilin (10.18, 10.86)		JPH2 (20q13.12) Junctophilin-2
527	Hypertrophic cardiomyopathy related to myozenin 2 (10.17)		MYOZ2 (4q26) Myozenin 2, or calsarcin 1, a Z disk protein
528	Hypertrophic cardiomyopathy related to nexilin (10.67, 10.21)		NEXN (1p32-p31 ) Nexilin(F-actin binding protein)
529	Hypertrophic cardiomyopathy related to phospholamban (10.54, 10.19)		PLN (6q22.1) Phospholamban
530	Hypertrophic cardiomyopathy related to TCAP (1.31, 10.52, 2.16, 10.27)	607487	TCAP (17q12) Telethonin
531	Hypertrophic cardiomyopathy related to ZASP (5.5, 10.42, 4.19, 10.26, 10.106)	601493	LDB3 (10q22) LIM domain binding 3
532	Hypertrophic cardiomyopathy, 21 (10.23)		? - (7p12.1-q21)
533	Hypertrophic cardiomyopathy, 28 (10.30)	619402	FHOD3 (18q12.2) Formin homology-2 domain-containing protein 3
534	Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.35)		MRPL3 (3q21-q23) Mitochondrial ribosomal protein L3(M)
535	Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.32)		NDUFAF1 (15q15.1) NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)
536	Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.18)	600649	CPT2 (1p32) Carnitine palmitoyltransferase II(M)
537	Hypokalaemic periodic paralysis (7.11, 10.182)	170400	KCNE3 (11q13.4) Potassium voltage-gated channel, Isk-related family, member 3
538	Hypokalaemic periodic paralysis (7.5)		ATP1A2 (1q23.2) ATPase, NA+/K+ transporting alpha-2 polypeptide
539	Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.54, 1.24, 3.46)	170400	CACNA1S (1q32) Calcium channel, voltage-dependent, L type, alpha 1S subunit
540	Hypokalemic periodic paralysis (7.8, 8.5, 3.54, 1.24, 3.46)	170400	CACNA1S (1q32) Calcium channel, voltage-dependent, L type, alpha 1S subunit
541	Inclusion body myopathy and brain white matter abnormalities (12.74, 12.110)	619733	ANXA11 (10q23.3) Annexin A11
542	Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.35, 4.22, 12.65, 1.58, 14.73)	167320	VCP (9p13-p12) Valosin-containing protein
543	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.36, 5.26)	615422	HNRNPA2B1 (7q15.2) Hetergeneous nuclear ribonucleoprotein A2/B1
544	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (5.35, 4.22, 12.65, 1.58, 14.73)	167320	VCP (9p13-p12) Valosin-containing protein
545	Inclusion body myopathy, autosomal recessive (4.5)	600737	GNE (9p13.3) UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase
546	Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.29)	251950	PNPLA8 (7q31.1) Patatin-like phospholipase domain containing 8(M)
547	Infantile-onset multisystem disease with progressive muscle weakness (16.72)	616263	PTRH2 (17q23.1) Peptidyl-tRNA Hydrolase 2(M)
548	Isolated inclusion body myopathy (12.71, 5.37)	615424	HNRNPA1 (12q13.13) Heterogeneous nuclear ribonucleoprotein A1
549	Jervell and Lange-Nielsen cardio-auditory syndrome (10.140, 10.157)	612347	KCNE1 (21q22.12) Potassium voltage-gated channel, Isk-related family, member 1
550	jervell and lange-nielsen syndrome (10.156, 10.136, 10.160, 10.154)	220400	KCNQ1 (11p15.5-p15.4) Potassium voltage-gated channel, KQT-like subfamily, member 1
551	Kennedy disease (12.47)	313200	AR (Xq11.2-q12) Androgen receptor
552	Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism (3.15)	616549	MYO18B (22q12.1) Myosin XVIIIB
553	Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4)	253400	SMN1 (5q13) Survival of motor neuron 1, telomeric
554	LAP1B related muscular dystrophy (1.9, 11.41)		TOR1AIP1 (1q25.2) Torsin A interacting protein 1
555	Late onset spinal muscular atrophy related to HEXB (12.104)		HEXB (5q13.3) Hexosaminidase B
556	late-onset spinal motor neuronopathy, Jokela type (12.44, 12.82, 16.63)	615048	CHCHD10 (22q11.2-q13.2) Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
557	Left ventricular noncompaction 10 (10.4, 3.53, 10.77, 10.113)	615396	MYBPC3 (11p11.2) Cardiac myosin binding protein-C
558	Left ventricular noncompaction 2 (10.105)	609470	? - (11q15)
559	Left ventricular noncompaction 3 (5.5, 10.42, 4.19, 10.26, 10.106)	601493	LDB3 (10q22) LIM domain binding 3
560	Left ventricular noncompaction 4 (3.2, 3.52, 3.1, 3.3)	613424	ACTA1 (1q42.1) Alpha actin, skeletal muscle
561	Left ventricular noncompaction 5 (4.6, 3.32, 10.57, 3.51, 10.108, 3.33)	613426	MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta
562	Left ventricular noncompaction 6 (10.2, 10.43, 10.98, 10.109)	601494	TNNT2 (1q32) Troponin T2, cardiac
563	Left ventricular noncompaction 7 (10.110)	615092	MIB1 (18q11.2) Mindbomb homolog 1 (drosophila)
564	LEFT VENTRICULAR NONCOMPACTION 8 (10.76, 10.111)	615373	PRDM16 (1p36.32) PR Domain-Containing Protein 16
565	Left ventricular noncompaction 8 (10.76, 10.111)	615373	PRDM16 (1p36.32) PR Domain-Containing Protein 16
566	Left ventricular noncompaction 9 (10.3, 10.63, 10.112)	611878	TPM1 (15q22) Tropomyosin 1 (alpha)
567	Lethal congenital contractural syndrome 3 (12.89)	611369	PIP5K1C (19p13.3) Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
568	Lethal congenital contracture syndrome 1 (12.87)	253310	GLE1 (9q34.11) GLE1 RNA export mediator homolog (yeast)
569	Lethal Congenital Contracture Syndrome 10 (12.96)	617022	NEK9 (14q24.3) Never in mitosis gene A-related kinase 9
570	Lethal Congenital Contracture Syndrome 11 (12.97)	617194	GLDN (15q21.2) Gliomedin
571	Lethal congenital contracture syndrome 2 (12.88)	607598	ERBB3 (12q13) V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
572	Lethal Congenital Contracture Syndrome 4 (16.10, 12.90, 3.44)	614915	MYBPC1 (12q23.2) Myosin-binding proteinC, slow type
573	Lethal Congenital Contracture Syndrome 5 (3.19, 2.15, 4.20, 14.16, 12.91)	615368	DNM2 (19p13.2) Dynamin 2
574	Lethal Congenital Contracture Syndrome 6 (12.92)	616248	ZBTB42 (14q32.33) Zinc finger and BTB domain-containing protein 42
575	Lethal congenital contracture syndrome 7 (12.93, 14.42)	616286	CNTNAP1 (17q21.2) Contactin-Associated Protein 1
576	Lethal Congenital Contracture Syndrome 8 (12.94)	616287	ADCY6 (12q13.12) Adenylate cyclase 6
577	Lethal Congenital Contracture Syndrome 9 (12.95)	616503	ADGRG6 (6q24.2) Adhesion G protein-coupled recptor G6
578	Lethal Congenital Contracture Syndrome related to TTN (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98)		TTN (2q31) Titin
579	Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy (13.107)	619688	RNF220 (1p34.1) Ring finger protein 220
580	LGMD related to DTNA (10.104, 1.61)		DTNA (18q12) Dystrobrevin, alpha
581	LGMD related to KBTBD13 (3.9, )		KBTBD13 (15q22.31) Kelch repeat and BTB (POZ) domain containing 13
582	LGMD related to PYROXD1 (5.9, 1.60, 3.59)		PYROXD1 (12p12.1) Pyridine nucleotidedisulphide oxidoreductase domain 1
583	LGMDD1 (1.16, 4.24, 4.25)	603511	DNAJB6 (7q36) HSP-40 homologue, subfamily B, number 6
584	LGMDD4 (1.25, 1.19)	618129	CAPN3 (15q15.1-q21.1) Calpain 3
585	LGMDD5 (2.2, 2.6, 1.38, 1.20)	158810	COL6A1 (21q22.3) Alpha 1 type VI collagen
586	LGMDD5 (2.5, 2.4, 2.7, 2.12, 1.39, 1.21, 2.3)	158810	COL6A2 (21q22.3) Alpha 2 type VI collagen
587	LGMDD5 (2.8, 2.4, 1.40, 1.22)	158810	COL6A3 (2q37) Alpha 3 type VI collagen
588	LGMDR10 (Formerly LGMD2J) (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98)		TTN (2q31) Titin
589	LGMDR20 (2.24, 1.51)	616052	CRPPA (7p21.2-p21.1) Isoprenoid synthase domain containing protein
590	LGMDR22 (2.2, 2.6, 1.38, 1.20)	254090	COL6A1 (21q22.3) Alpha 1 type VI collagen
591	LGMDR22 (2.5, 2.4, 2.7, 2.12, 1.39, 1.21, 2.3)	254090	COL6A2 (21q22.3) Alpha 2 type VI collagen
592	LGMDR22 (2.8, 2.4, 1.40, 1.22)	254090	COL6A3 (2q37) Alpha 3 type VI collagen
593	LGMDR23 (2.1, 1.41)	618138	LAMA2 (6q22-q23) Laminin alpha 2 chain of merosin
594	LGMDR24 (2.25, 1.52)	618135	POMGNT2 (3p22.1) protein O-linked mannose N-acetylglucosaminyltransferase 2
595	LGMDR26 (1.43)	618848	POPDC3 (6q21) Popeye domain-containing protein 3
596	Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 10.47, 5.15, 10.135, 11.44)	602067	DES (2q35) Desmin
597	Limb girdle muscular dystrophy 2J (autosomal recessive) (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98)	608807	TTN (2q31) Titin
598	Limb girdle muscular dystrophy with ophthalmoplegia (5.27, 1.35, 11.36, 1.59)		PLEC (8q24.3) Plectin
599	Limb-Girdle, Muscular dystrophy, type 1G (1.18)	609115	HNRNPDL (4q21) Heterogeneous nuclear ribonucleoprotein D-like
600	Limb-girdle, muscular dystrophy, type 1h ()	613530	? - (3p23-p25)
601	Limb-Girdle, Muscular dystrophy, type 2M (2.35, 2.21, 10.62, )	611588	FKTN (9q31-q33) Fukutin
602	Limb-girdle, muscular dystrophy, type 2n (2.19, 2.33, 1.47)	613158	POMT2 (14q24.3) Protein-O-mannosyltransferase 2
603	Limb-girdle, muscular dystrophy, type 2o (2.34, 2.20, 1.48)	613157	POMGNT1 (1p34.1) O-linked mannose beta1,2-N-acetylglucosaminyltransferase
604	Limb-girdle, muscular dystrophy, type 2q (5.27, 1.35, 11.36, 1.59)	613723	PLEC (8q24.3) Plectin
605	Limb-Girdle, Muscular dystrophy, type 2R (5.1, 10.47, 5.15, 10.135, 11.44)	615325	DES (2q35) Desmin
606	Limb-Girdle, Muscular dystrophy, type 2S (1.36, 2.51)	615356	TRAPPC11 (4q35.1) Trafficking protein particle complex 11
607	Limb-Girdle, Muscular dystrophy, type 2T (1.55, 2.38, 2.31, 11.37)	615352	GMPPB (3p21.31) GDP-mannose pyrophosphorylase B
608	Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.102, )		GAA (17q25.2-q25.3) Acid alpha-glucosidase preproprotein
609	Limb-Girdle, Muscular dystrophy, type 2W (1.57)	616827	LIMS2 (2q14.3) LIM and senescent cell antigen-like domains 2
610	Limb-Girdle, Muscular dystrophy, type 2X (1.42)	616812	BVES (6q21) Blood vessel epicardial substance
611	Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 11.41)	617072	TOR1AIP1 (1q25.2) Torsin A interacting protein 1
612	Limb-Girdle, Muscular dystrophy, type 2Z (1.37)	617232	POGLUT1 (3q13.33) Protein O-Glucosyltransferase 1
613	Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.30)	255100	FLAD1 (1q21.3) flavin adenine dinucleotide synthetase, homolog(M)
614	lipodystrophy, congenital generalized, type 4 (1.13)	613327	CAVIN1 (17q21-q2) Caveolae-associated protein 1(M)
615	Lipodystrophy, familial partial, type 2 (1.3, 1.4, 10.40, 2.17, 14.88)	151660	LMNA (1q22) Lamin A/C
616	Long QT syndrome 10 (10.145, 10.174)	611819	SCN4B (11q23.3) Sodium channel, voltage-gated, type IV, beta subunit
617	Long QT syndrome 11 (10.146)	611820	AKAP9 (7q21.2) A kinase (PRKA) anchor protein (yotiao) 9
618	Long QT syndrome 12 (10.147)	612955	SNTA1 (20q11.21) Syntrophin, alpha 1
619	Long QT syndrome 13 (10.152, 10.148)	613485	KCNJ5 (11 q24.3) Potassium inwardly-rectifying channel, subfamily J, member 5
620	Long QT syndrome 14 (10.131, 10.149)	616247	CALM1 (14q32.11) Calmodulin 1
621	Long QT syndrome 15 (10.150)	616249	CALM2 (2p21) Calmodulin 2
622	Long QT syndrome 16 (10.151, 10.133)	618782	CALM3 (19q13.32) Calmodulin 3
623	Long QT syndrome 9 (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16)		CAV3 (3p25.3) Caveolin 3
624	Long QT syndrome-1 (10.156, 10.136, 10.160, 10.154)	192500	KCNQ1 (11p15.5-p15.4) Potassium voltage-gated channel, KQT-like subfamily, member 1
625	Long QT syndrome-2 (10.137, 10.153)	152427	KCNH2 (7q36.1) Voltage-gated potassium channel, subfamily H, member 2
626	Long QT syndrome-3 (10.138, 10.44, 10.177, 10.187, 10.167)	603830	SCN5A (3p22.2) Voltage-gated sodium channel type V alpha
627	Long QT syndrome-4 (10.139)	600919	ANK2 (4q25-26) Ankyrin 2
628	Long QT syndrome-5 (10.140, 10.157)	176261	KCNE1 (21q22.12) Potassium voltage-gated channel, Isk-related family, member 1
629	Long QT syndrome-6 (10.141, 10.161)	603796	KCNE2 (21q22.12) Potassium voltage-gated channel, Isk-related family, member 2
630	Long QT syndrome-7 (10.155, 10.166, 10.142)	170390	KCNJ2 (17q24.3) Potassium channel, inwardly rectifying, dubfamily J, member 2
631	Lower motor neuron disease with respiratory failure related to MAPT (12.108)		MAPT (17q21.31 ) Microtubule associated protein Tau
632	luma related muscular dystrophy (10.119, 1.8)		TMEM43 (3p25.1) Transmembrane protein 43
633	Lysosomal storage myopathy (5.45)	252650	MCOLN1 (19p13.2) Mucopilin 1
634	Machado-Joseph disease (13.3)	109150	ATXN3 (14q32.12) Ataxin 3
635	Malignant hyperthermia susceptibility 1 (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)	145600	RYR1 (19q13.1) Ryanodine receptor 1 (skeletal)
636	Malignant hyperthermia susceptibility 2 (8.2)	154275	? - (17q11.2-q24)
637	Malignant hyperthermia susceptibility 3 (8.3)	154276	? - (7q21-q22)
638	Malignant hyperthermia susceptibility 4 (8.4)	600467	? - (3q13.1)
639	Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.54, 1.24, 3.46)	601887	CACNA1S (1q32) Calcium channel, voltage-dependent, L type, alpha 1S subunit
640	Malignant hyperthermia susceptibility 6 (8.6)	601888	? - (5p)
641	Mandibuloacral dysplasia with type a lipodystrophy (1.3, 1.4, 10.40, 2.17, 14.88)	248370	LMNA (1q22) Lamin A/C
642	Marinesco-Sjogren syndrome (13.97)	248800	SIL1 (5q31) SIL1 homolog, endoplasmic reticulum chaperone
643	Marssili syndrome (insensitivity to pain, congenital, AD) (14.124)	147430	ZFHX2 (14q11.2) Zinc finger homeobox 2
644	MASA syndrome (15.84)	303350	L1CAM (Xq28) L1 cell adhesion molecule
645	McArdle disease (9.4)	232600	PYGM (11q12-q13.2) Glycogen phosphorylase
646	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (16.59)	618416	SLC25A42 (19p13.11) Solute carrier family 25 member 42(M)
647	minicore myopathy with external ophthalmoplegia (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)	255320	RYR1 (19q13.1) Ryanodine receptor 1 (skeletal)
648	Mitochondrial complex 1 deficiency, nuclear type 11 (10.32)	618234	NDUFAF1 (15q15.1) NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)
649	Mitochondrial complex 1 deficiency, nuclear type 20 (9.25)	611126	ACAD9 (3q21.3) Acyl-CoA dehydrogenase family member 9(M)
650	Mitochondrial complex I deficiency, nuclear type 29 (16.82)	618250	TMEM126B (11q14.1) Transmembrane protein 126B(M)
651	Mitochondrial complex IV deficiency (16.87)	619355	COX16 (14q24.2) Cytochrome c Oxidase Assembly Factor 16
652	Mitochondrial complex IV deficiency, nuclear type 11 (12.111)	619054	COX20 (1q44) Cytochrome c Oxidase Assembly Factor COX20
653	Mitochondrial complex IV deficiency, nuclear type 18 (16.70)	220110	COX6A2 (16p11.2) Cytochrome c-oxidase, subunit 6A2(M)
654	Mitochondrial complex IV deficiency, nuclear type 2 (10.38, 14.99)	604377	SCO2 (22q13.33) Cytochrome c oxidase assembly protein(M)
655	Mitochondrial complex IV deficiency, nuclear type 6 (10.39)	615119	COX15 (10q24) COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)
656	Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.45)	603041	TYMP (22q13.33) Thymidine phosphorylase
657	Mitochondrial DNA depletion syndrome 11 (16.54)	615084	MGME1 (20p11.23) Mitochondrial genome maintenance exonuclease 1(M)
658	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.35, 16.56, 16.55)	617184	SLC25A4 (4q35) Mitochondrial carrier; adenine nucleotide translocator(M)
659	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.35, 16.56, 16.55)	615418	SLC25A4 (4q35) Mitochondrial carrier; adenine nucleotide translocator(M)
660	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (16.57)	615471	FBXL4 (6q16.1-q16.2) F-box and leucine-rich repeat protein 4
661	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.60, 16.58)	616896	OPA1 (3q28-q29) optic atrophy 1(M)
662	Mitochondrial DNA depletion syndrome 20 (MNGIE type) (16.86)	619780	LIG3 (17q12) Ligase III DNA ATP-Dependent
663	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.43, 16.47)	251880	DGUOK (2p13.1) Deoxyguanosine kinase(M)
664	Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.34, 13.98, 16.40, 16.49, 16.48)	203700	POLG (15q25) Polymerase (DNA directed), gamma(M)
665	Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.34, 13.98, 16.40, 16.49, 16.48)	613662	POLG (15q25) Polymerase (DNA directed), gamma(M)
666	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (16.50)	612073	SUCLA2 (13q12.2-q13.3) Succinate-CoA ligase, ADP-forming, beta subunit(M)
667	Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) (16.52, 16.38, 16.51)	612075	RRM2B (8q23.1) Ribonucleotide reductase M2 B (TP53 inducible)(M)
668	Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (16.53)	245400	SUCLG1 (2p11.2) Succinate-CoA ligase, alpha subunit(M)
669	Mitochondrial dna depletion syndrome, myopathic form (16.46, 13.29, 16.42)	609560	TK2 (16q22-q23) Thymidine kinase 2, mitochondrial(M)
670	Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.34)	614096	AARS2 (6p21.1) Alanyl-tRNA synthetase 2, mitochondrial(M)
671	Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.37)	615395	MRPL44 (2q36.1) Mitochondrial ribosomal protein L44(M)
672	Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.36)	614702	MTO1 (6q13) Mitochondrial tRNA translation optimization 1(M)
673	Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.33)	610505	TSFM (12q14.1) Ts translation elongation factor, mitochondrial(M)
674	Mitochondrial myopathy (16.59)		SLC25A42 (19p13.11) Solute carrier family 25 member 42(M)
675	Mitochondrial myopathy and multiple mtDNA deletions (16.89)		ENDOG (9q34.11) Endonuclease G, mitochondrial
676	Mitochondrial myopathy and sideroblastic anemia 1 (16.61)	600462	PUS1 (12q24.33) Pseudouridylate synthase 1(M)
677	Mitochondrial myopathy related to SLC25A26 (16.88)		SLC25A26 (3p14.1) Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26
678	Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features (16.83)		APOO (Xp22.11) Apolipoprotein O(M)
679	Mitochondrial myopathy with severe neurological manifestations (16.71)		TMEM65 (8q24.13) Transmembrane Protein 65
680	Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy (16.80)	251900	FDX2 (19p13.2) Ferredoxin(M)
681	Miyoshi muscular dystrophy 2 (4.2)	613318	? - (8q22.3)
682	Miyoshi muscular dystrophy 3 (1.34, 4.3, 1.14)	613319	ANO5 (11p14-12) Anoctamin 5
683	Miyoshi myopathy (4.1, 1.26)	254130	DYSF (2p12-14) Dysferlin
684	Multiminicore disease, classical form (2.13, 5.13, )	255320	SELENON (1p36.13) Selenoprotein N1
685	Multiple acyl-coa dehydrogenase deficiency (9.23)	231680	ETFDH (4q32-q35) Electron-transferring-flavoprotein dehydrogenase(M)
686	Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.21)	231680	ETFA (15q23-q25) Electron-transfer-flavoprotein, alpha polypeptide(M)
687	Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.22)	231680	ETFB (19q13.3-q13.4) Electron-transfer-flavoprotein, beta polypeptide(M)
688	Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.23)	231680	ETFDH (4q32-q35) Electron-transferring-flavoprotein dehydrogenase(M)
689	Muscle dystrophy with congenital disorder of glycosylation (2.43)		DPM2 (9q34.13) Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
690	Muscle dystrophy with congenital disorder of glycosylation, type Io (1.56, 2.39)	612937	DPM3 (1q22) Dolichyl-phosphate mannosyltransferase polypeptide 3
691	Muscle hypertrophy (5.28)	614160	MSTN (2q32.2) Myostatin
692	Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections (5.40, 5.48)		STIM1 (11p15.4) Stromal interaction molecule 1
693	Muscle-eye-brain disease (1.55, 2.38, 2.31, 11.37)	615350	GMPPB (3p21.31) GDP-mannose pyrophosphorylase B
694	Muscle-eye-brain disease (1.50, 2.22, 2.36)		FKRP (19q13.32) Fukutin-related protein
695	Muscle-eye-brain disease (2.19, 2.33, 1.47)		POMT2 (14q24.3) Protein-O-mannosyltransferase 2
696	Muscular dystrophy related to GOSR2 (2.52, )	604027	GOSR2 (17q21.32) Golgi SNAP receptor complex member 2
697	Muscular dystrophy with gnathodiaphyseal dysplasia (1.34, 4.3, 1.14)		ANO5 (11p14-12) Anoctamin 5
698	Muscular dystrophy with hearing loss and ovarian insufficiency syndrome (1.15)	619518	GGPS1 (1q42.3) Geranylgeranyl Diphosphate Synthase 1
699	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.25, 1.52)	614830	POMGNT2 (3p22.1) protein O-linked mannose N-acetylglucosaminyltransferase 2
700	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.19, 2.33, 1.47)	613150	POMT2 (14q24.3) Protein-O-mannosyltransferase 2
701	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.34, 2.20, 1.48)	253280	POMGNT1 (1p34.1) O-linked mannose beta1,2-N-acetylglucosaminyltransferase
702	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.18, 1.46, 2.32)	236670	POMT1 (9q34.1) Protein-O-mannosyltransferase 1
703	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.23, 2.37)	613154	LARGE1 (22q12.3) LARGE xylosyl- and glucuronyltransferase 1
704	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (1.50, 2.22, 2.36)	613153	FKRP (19q13.32) Fukutin-related protein
705	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (	614643	ISPD (7p21.2) Isoprenoid synthase domain containing
706	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.35, 2.21, 10.62, )	253800	FKTN (9q31-q33) Fukutin
707	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 (1.56, 2.39)	618992	DPM3 (1q22) Dolichyl-phosphate mannosyltransferase polypeptide 3
708	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.34, 2.20, 1.48)	613151	POMGNT1 (1p34.1) O-linked mannose beta1,2-N-acetylglucosaminyltransferase
709	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.23, 2.37)	608840	LARGE1 (22q12.3) LARGE xylosyl- and glucuronyltransferase 1
710	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (1.50, 2.22, 2.36)	606612	FKRP (19q13.32) Fukutin-related protein
711	Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.35, 2.21, 10.62, )	613152	FKTN (9q31-q33) Fukutin
712	Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.53, 2.26)	613818	DAG1 (3p21) Dystroglycan1
713	Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 (2.29, 1.54)	616094	POMK (8p11.21) Protein-O-mannose kinase
714	Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 (2.18, 1.46, 2.32)	607423	POMT1 (9q34.1) Protein-O-mannosyltransferase 1
715	Muscular dystrophy, autosomal dominant, with rimmed vacuoles ()	601846	? - (19p13)
716	Muscular dystrophy, congenital Davignon-Chauveau type (2.47, 12.5)		TRIP4 (15q22.31) Thyroid hormone receptor interactor 4
717	Muscular dystrophy, congenital merosin-deficient (2.1, 1.41)	607855	LAMA2 (6q22-q23) Laminin alpha 2 chain of merosin
718	Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14)	613204	ITGA7 (12q13) Integrin alpha 7 precursor
719	Muscular dystrophy, congenital, with cataracts and intellectual disability (2.48)	617404	INPP5K (17p13.3) Inositol Polyphosphate-5-Phosphatase K
720	Muscular dystrophy, facioscapulohumeral, type 1A (1.10)	158900	DUX4 (4q35) Double homeobox 4
721	Muscular dystrophy, LGMDR27 (1.44)	619566	JAG2 (14q32.33) Jagged 2
722	Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.34, 4.3, 1.14)	611307	ANO5 (11p14-12) Anoctamin 5
723	Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.34, 2.20, 1.48)	613157	POMGNT1 (1p34.1) O-linked mannose beta1,2-N-acetylglucosaminyltransferase
724	Muscular dystrophy, Limb-Girdle, type 1A (5.3, 5.4, 4.16, )	159000	MYOT (5q31) Myotilin
725	Muscular dystrophy, limb-girdle, type 1B (1.3, 1.4, 10.40, 2.17, 14.88)	159001	LMNA (1q22) Lamin A/C
726	Muscular dystrophy, Limb-Girdle, Type 1F (1.17, )	608423	TNPO3 (7q32.1-q32.2) Transportin 3
727	Muscular dystrophy, limb-girdle, type 1G (	609115	? - (4q21)
728	Muscular dystrophy, limb-girdle, type 2A (1.25, 1.19)	253600	CAPN3 (15q15.1-q21.1) Calpain 3
729	Muscular dystrophy, limb-girdle, type 2B (4.1, 1.26)	253601	DYSF (2p12-14) Dysferlin
730	Muscular dystrophy, limb-girdle, type 2C (1.29)	253700	SGCG (13q12) Gamma sarcoglycan
731	Muscular dystrophy, limb-girdle, type 2D (1.27)	608099	SGCA (17q21) Alpha sarcoglycan
732	Muscular dystrophy, limb-girdle, type 2E (1.28)	604286	SGCB (4q12) Beta sarcoglycan
733	Muscular dystrophy, limb-girdle, type 2F (1.30, 10.50)	601287	SGCD (5q33-q34) Delta-sarcoglycan
734	Muscular dystrophy, limb-girdle, type 2G (1.31, 10.52, 2.16, 10.27)	601954	TCAP (17q12) Telethonin
735	Muscular dystrophy, limb-girdle, type 2H (1.32, 5.42)	254110	TRIM32 (9q33.2) Tripartite motif-containing 32
736	Muscular dystrophy, limb-girdle, type 2I (1.50, 2.22, 2.36)	607155	FKRP (19q13.32) Fukutin-related protein
737	Muscular dystrophy, Limb-Girdle, type 2K (2.18, 1.46, 2.32)	609308	POMT1 (9q34.1) Protein-O-mannosyltransferase 1
738	Muscular dystrophy, limb-girdle, type IC (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16)	607801	CAV3 (3p25.3) Caveolin 3
739	Muscular dystrophy, rigid spine, 1 (2.13, 5.13, )	602771	SELENON (1p36.13) Selenoprotein N1
740	Muscular dystrophy; limb-girdle, autosomal recessive 28 (1.49)	620375	HMGCR (5q13.3) 3-Hydroxy-3-methylglutaryl-CoA reductase
741	Myasthenia gravis, autosomal recessive (11.13)	254210	CHAT (10q11.2) Choline acetyltransferase isoform
742	Myasthenia gravis, familial infantile (11.13)	254210	CHAT (10q11.2) Choline acetyltransferase isoform
743	Myasthenia gravis, familial infantile, 2 (11.13)	254210	CHAT (10q11.2) Choline acetyltransferase isoform
744	Myasthenia, congenital, 12, with tubular aggregates (11.20)	610542	GFPT1 (2p12-p15) Glutamine-fructose-6-phosphate transaminase 1
745	Myasthenic syndrome, acetazolamide-responsive (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49)	614198	SCN4A (17q23-q25.3) Sodium channel, voltage-gated, type IV, alpha
746	Myasthenic syndrome, congenital (11.19, 16.29)	608931

GeneTable of Neuromuscular Disorders