Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

EEF2
Eukaryotic translation elongation factor 2



19p13.3
* Spinocerebellar ataxia 26 - SCA26 (13.24)

EGR2
Early growth response 2 protein



10q21.1
* Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.23, 14.38)
* Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.23, 14.38)
* Dejerine-Sottas neuropathy - DSN (14.4, 14.23, 14.38)
* Neuropathy, congenital hypomyelinating - CHN (14.4, 14.23, 14.38)

ELOVL4
ELOVL fatty acid elongase 4



6q14.1
* Spinocerebellar ataxia 34 - SCA34 (13.31)

ELOVL5
ELOVL fatty acid elongase 5



6p12.1
* Spinocerebellar ataxia 38 - SCA38 (13.35)

EMD
Emerin



Xq28
* Emery-dreifuss muscular dystrophy 1 - EDMD1 (1.2)

ENO3
Enolase 3, beta muscle specific



17pter-p11
* Glycogen storage disease XIII - GSD13 (9.15)
* Enolase deficiency - ENO3 (9.15)

ENTPD1
ectonucleoside triphosphate diphosphohydrolase 1



10q24.1
* Spastic paraplegia 64, autosomal recessive - SPG64 (15.56)

ERBB3
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



12q13
* Lethal congenital contracture syndrome 2 - LCCS2 (12.67)

ERLIN1
ER lipid raft associated 1 (Erlin-1)



10q24.31
* Spastic paraplegia 62 autosomal recessive - SPG62 (15.54)

ERLIN2
ER lipid raft associated 2



8p12-p11.21
* Spastic paraplegia 18 - SPG18 (15.25)

ETFA
Electron-transfer-flavoprotein, alpha polypeptide(M)



15q23-q25
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.19)

ETFB
Electron-transfer-flavoprotein, beta polypeptide(M)



19q13.3-q13.4
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.20)

ETFDH
Electron-transferring-flavoprotein dehydrogenase(M)



4q32-q35
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.21, 9.26)
* Multiple acyl-coa dehydrogenase deficiency - MADD (9.21, 9.26)

EXOSC3
Exosome component 3



9p13.2
* Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B (12.69)

EXOSC8
Exosome component 8



13q13.1
* Spinal muscular atrophy and cerebellar hypoplasia - (12.33)

EYA4
Eyes absent 4



6q23-24
* Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 (10.39)
* Cardiomyopathy, dilated, 1J - CMD1J (10.39)