Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Early onset axonal neuropathy with sensory ataxia (14.74) | DGAT2 (1q13.3) Diacylglycerol O-acyltransferase 2       | |
| Early onset distal myopathy with KLHL9 mutations (4.21) | KLHL9 (9p21.2-p22.3) Kelch-like homologue 9 | |
| Early-onset axonal Charcot-Marie-Tooth with ataxia (14.82, 14.94) | PNKP (19q13.33) polynucleotide kinase 3’-phosphatase | |
| Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.58, 3.61) | PYROXD1 (12p12.1) Pyridine nucleotidedisulphide oxidoreductase domain 1 | |
| Emery-Dreifuss Autosomal recessive (1.3, 1.4, 10.39, 2.17, 14.81) | 181350 | LMNA (1q22) Lamin A/C |
| Emery-dreifuss muscular dystrophy 1 (1.2) | 310300 | EMD (Xq28) Emerin |
| Emery-dreifuss muscular dystrophy 4 (1.5, 13.68, 17.23, 10.92) | 612998 | SYNE1 (6q25) Spectrin repeat containing, nuclear envelope 1 (nesprin 1) |
| Emery-dreifuss muscular dystrophy 6 (1.7, 5.33, 5.34, 5.35) | 300696 | FHL1 (Xq26.3) Four and a half LIM domain 1 |
| Emery-dreifuss muscular dystrophy 7 (10.119, 1.8) | 614302 | TMEM43 (3p25.1) Transmembrane protein 43 |
| Emery-Dreifuss muscular dystrophy, autosomal dominant (1.3, 1.4, 10.39, 2.17, 14.81) | 181350 | LMNA (1q22) Lamin A/C |
| Endocardial fibroelastosis-2 (10.90, 10.103) | 300394 | TAZ (Xq28) Tafazzin |
| Enolase deficiency (9.20) | 131370 | ENO3 (17pter-p11) Enolase 3, beta muscle specific |
| Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.29, 1.34, 11.36, 1.57) | 226670 | PLEC (8q24.3) Plectin |
| episodic ataxia type 5, included (13.50) | 601949 | CACNB4 (2q22-q23) Calcium channel, voltage-dependent, beta 4 subunit |
| episodic ataxia type 6 (13.51) | 612656 | SLC1A3 (5p13) EAAT1 (excitatory amino acid transporter type 1) |
| episodic ataxia type-3 (13.49) | 606554 | ? - (1q42) |
| episodic ataxia type-7 (13.52) | 611907 | ? - (19q13) |
| Episodic ataxia type-9 (13.53) | SCN2A (2q24.3) Sodium voltage-gated channel, alpha subunit 2; SCN2A | |
| 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, 13.54, 7.10, 13.48) | 108500 | CACNA1A (19p13.13) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| episodic muscle weakness, x-linked (5.36) | 300211 | ? - (Xp22.3) |
| Episodic pain syndrome, familial 3 (14.112, 14.123) | 615552 | SCN11A (3p22.2) Sodium voltage-gated channel alpha subunit 11 |
| Erythrocyte lactate transporter defect (9.21) | 245340 | SLC16A1 (1p13.2) Solute carrier family 16, member 1 (monocarboxylic acid transporter 1) |
| Erythromelalgia, Primary (14.107, 14.122) | 133020 | SCN9A (2q24.3) Sodium voltage-gated channel alpha subunit 9 |
| Escobar syndrome (multiple pterygium syndrome) (11.35) | 265000 | CHRNG (2q33-q34) Cholinergic receptor, nicotinic, gamma polypeptide |
| Exertional myoglobinuria due to deficiency of LDH-A (9.19) | 150000 | LDHA (11p15.4) Lactate dehydrogenase A |