Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Early onset axonal neuropathy with sensory ataxia (14.72)
DGAT2 (1q13.3)
Diacylglycerol O-acyltransferase 2



Early onset distal myopathy with KLHL9 mutations (4.17)
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9



Early onset myopathy, areflexia, respiratory distress and dysphagia (3.34, 3.33)
614399
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



Early onset of mitochondrial myopathy (16.71)
TIMM22 (17q13.3)
Translocase of inner mitochondrial membrane 22 (M)



Early-onset axonal Charcot-Marie-Tooth with ataxia (14.77, 14.89)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.59, 3.60)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



Emery-Dreifuss Autosomal recessive (1.4, 1.21, 1.5, 10.37, 2.17, 14.76)
181350
LMNA (1q22)
Lamin A/C



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



Emery-dreifuss muscular dystrophy 4 (1.6, 13.61, 16.21, 10.82)
612998
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



Emery-dreifuss muscular dystrophy 6 (1.3, 5.25, 5.26, 5.27)
300696
FHL1 (Xq26.3)
Four and a half LIM domain 1



Emery-dreifuss muscular dystrophy 7 (10.107, 1.8)
614302
TMEM43 (3p25.1)
Transmembrane protein 43



Emery-Dreifuss muscular dystrophy, autosomal dominant (1.4, 1.21, 1.5, 10.37, 2.17, 14.76)
181350
LMNA (1q22)
Lamin A/C



Endocardial fibroelastosis-2 (10.80, 10.91)
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 (5.21, 1.41, 11.34, 1.58)
226670
PLEC (8q24.3)
Plectin



episodic ataxia type 5, included (13.47)
601949
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit



episodic ataxia type 6 (13.48)
612656
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)



episodic ataxia type-3 (13.46)
606554
? - (1q42)
episodic ataxia type-7 (13.49)
611907
? - (19q13)
Episodic ataxia with myokymia (7.12)
160120
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1



Episodic ataxia, type 2 (7.9, 13.6, 13.50, 7.10, 13.45)
108500
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



episodic muscle weakness, x-linked (5.28)
300211
? - (Xp22.3)
Episodic pain syndrome, familial 3 (14.104, 14.114)
615552
SCN11A (3p22.2)
Sodium voltage-gated channel alpha subunit 11



Erythrocyte lactate transporter defect (9.17)
245340
SLC16A1 (1p13.2)
Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)



Erythromelalgia, Primary (14.99, 14.113)
133020
SCN9A (2q24.3)
Sodium voltage-gated channel alpha subunit 9



Escobar syndrome (multiple pterygium syndrome) (11.33)
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