Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Early onset axonal neuropathy with sensory ataxia (14.65)
DGAT2 (1q13.3)
diacylglycerol O-acyltransferase 2



Early onset calf distal myopathy (1.32, 4.13)
ANO5 (11p14-12)
Anoctamin 5



Early onset distal myopathy with KLHL9 mutations (4.15)
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9



Early onset myopathy, areflexia, respiratory distress and dysphagia (3.29, 3.28)
614399
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



Early-onset axonal Charcot-Marie-Tooth with ataxia (14.79)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



Early-onset myofibrillar myopathy with PYRODX1 defect (5.28)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



Emery-Dreifuss Autosomal recessive (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
181350
LMNA (1q22)
Lamin A/C



Emery-dreifuss muscular dystrophy 1 (1.2)
310300
EMD (Xq28)
Emerin



Emery-dreifuss muscular dystrophy 4 (1.6, 13.57, 16.14, 10.77)
612998
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



Emery-dreifuss muscular dystrophy 6 (1.3, 5.21, 5.22, 2.14, 5.23)
300696
FHL1 (Xq26.3)
Four and a half LIM domain 1



Emery-dreifuss muscular dystrophy 7 (10.90, 1.8)
614302
TMEM43 (3p25.1)
Transmembrane protein 43



Emery-Dreifuss muscular dystrophy, autosomal dominant (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
181350
LMNA (1q22)
Lamin A/C



Endocardial fibroelastosis-2 (10.75, 10.83)
300394
TAZ (Xq28)
Tafazzin



Enolase deficiency (9.16)
131370
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.17, 1.37, 11.31, 1.49)
226670
PLEC (8q24.3)
plectin



episodic ataxia type 5, included (13.42)
601949
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit



episodic ataxia type 6 (13.43)
612656
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)



episodic ataxia type-3 (13.41)
606554
? - (1q42)
episodic ataxia type-7 (13.44)
611907
? - (19q13)
Episodic ataxia with myokymia (7.12, 13.34)
160120
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1



Episodic ataxia, type 2 (7.9, 13.6, 13.45, 7.10, 13.40)
108500
CACNA1A (19p13.2-p13.1)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



episodic muscle weakness, x-linked (5.24)
300211
? - (Xp22.3)
Escobar syndrome (multiple pterygium syndrome) (11.30)
265000
CHRNG (2q33-q34)
Cholinergic receptor, nicotinic, gamma polypeptide



Exertional myoglobinuria due to deficiency of LDH-A (9.15)
150000
LDHA (11p15.4)
Lactate dehydrogenase A