Gene table



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

ECEL1
Endothelin-converting enzyme like 1



2q37.1
* Arthrogryposis, distal, type 5D - DA5D (16.18)

EEF2
Eukaryotic translation elongation factor 2



19p13.3
* Spinocerebellar ataxia 26 - SCA26 (13.23)

EGR2
Early growth response 2 protein



10q21.1
* Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.27, 14.44)
* Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.27, 14.44)
* Dejerine-Sottas syndrome - DSS (14.4, 14.27, 14.44)
* Neuropathy, congenital hypomyelinating - CHN (14.4, 14.27, 14.44)

ELOVL4
ELOVL fatty acid elongase 4



6q14.1
* Spinocerebellar ataxia 34 - SCA34 (13.30)

ELOVL5
ELOVL fatty acid elongase 5



6p12.1
* Spinocerebellar ataxia 38 - SCA38 (13.34)

ELP1
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



9q31.3
* Neuropathy, hereditary sensory and autonomic, type III - HSAN3 (14.100, 16.3)
* Familial dysautonomia (Riley-Day syndrome) - (14.100, 16.3)

EMD
Emerin



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

ENO3
Enolase 3, beta muscle specific



17pter-p11
* Glycogen storage disease XIII - GSD13 (9.16)
* Enolase deficiency - ENO3 (9.16)

ENTPD1
Ectonucleoside triphosphate diphosphohydrolase 1



10q24.1
* Spastic paraplegia 64, autosomal recessive - SPG64 (15.60)

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



12q13
* Lethal congenital contracture syndrome 2 - LCCS2 (12.77)

ERBB4
V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4



2q34
* Amyotrophic lateral sclerosis 19 - ALS19 (12.62)

ERLIN1
Endoplasmic reticulum lipid raft-associated protein 1 (Erlin-1)



10q24.31
* Spastic paraplegia 62 autosomal recessive - SPG62 (15.58)

ERLIN2
ER lipid raft associated 2



8p12-p11.21
* Spastic paraplegia 18 - SPG18 (15.29)

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



15q23-q25
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.21)

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



19q13.3-q13.4
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.22)

ETFDH
Electron-transferring-flavoprotein dehydrogenase(M)



4q32-q35
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.23)
* Multiple acyl-coa dehydrogenase deficiency - MADD (9.23)

EXOSC3
Exosome component 3



9p13.2
* Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B (12.88)

EXOSC8
Exosome component 8



13q13.1
* Spinal muscular atrophy and cerebellar hypoplasia - (12.14)

EYA4
Eyes absent 4



6q23-24
* Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 (10.45)
* Cardiomyopathy, dilated, 1J - CMD1J (10.45)
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