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 (17.18)

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, 14.28, 14.45)
* Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.28, 14.45)
* Dejerine-Sottas syndrome - DSS (14.4, 14.28, 14.45)
* Neuropathy, congenital hypomyelinating, 1 - CHN1 (14.4, 14.28, 14.45)

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 (14.108, 17.3)
* Familial dysautonomia (Riley-Day syndrome) - (14.108, 17.3)

EMD
Emerin



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

EMILIN1
Elastin microfibril interfacer 1



2p23.3
* Neuronopathy, distal hereditary motor, autosomal dominant 10 - HMND10 (12.32)

ENDOG
Endonuclease G, mitochondrial



9q34.11
* Mitochondrial myopathy and multiple mtDNA deletions - (16.36)

ENO3
Enolase 3, beta muscle specific



17pter-p11
* Glycogen storage disease XIII - GSD13 (9.20)
* Enolase deficiency - ENO3 (9.20)

ENTPD1
Ectonucleoside triphosphate diphosphohydrolase 1



10q24.1
* Spastic paraplegia 64, autosomal recessive - SPG64 (15.61)

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



12q13
* Lethal congenital contracture syndrome 2 - LCCS2 (12.91)

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



2q34
* Amyotrophic lateral sclerosis 19 - ALS19 (12.72)

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



10q24.31
* Spastic paraplegia 62 autosomal recessive - SPG62 (15.59)

ERLIN2
ER lipid raft associated 2



8p12-p11.21
* Spastic paraplegia 18 - SPG18 (15.30)
* Spastic paraplegia 18A7, autosomal dominant - SPG18A (15.30, 15.30)

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



15q23-q25
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.25)

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



19q13.3-q13.4
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.26)

ETFDH
Electron-transferring-flavoprotein dehydrogenase(M)



4q32-q35
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.27)
* Multiple acyl-coa dehydrogenase deficiency - MADD (9.27)

EXOSC3
Exosome component 3



9p13.2
* Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B (12.102)

EXOSC8
Exosome component 8



13q13.1
* Spinal muscular atrophy and cerebellar hypoplasia - (12.19)

EXOSC9
Exosome component 9



4q27
* Pontocerebellar hypoplasia, type 1D - PCH1D (12.20)

EYA4
Eyes absent 4



6q23-24
* Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 (10.47)
* Cardiomyopathy, dilated, 1J - CMD1J (10.47)