Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
EAAT1 (excitatory amino acid transporter type 1)
SLC1A3 (5p13)


* episodic ataxia type 6 - EA6 (13.51)
Early growth response 2 protein
EGR2 (10q21.1)


* Dejerine-Sottas syndrome - DSS (14.4, 14.28, 14.45)
* Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.28, 14.45)
* Neuropathy, congenital hypomyelinating, 1 - CHN1 (14.4, 14.28, 14.45)
* Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.28, 14.45)
Ectonucleoside triphosphate diphosphohydrolase 1
ENTPD1 (10q24.1)


* Spastic paraplegia 64, autosomal recessive - SPG64 (15.61)
Elastin microfibril interfacer 1
EMILIN1 (2p23.3)


* Neuronopathy, distal hereditary motor, autosomal dominant 10 - HMND10 (12.32)
Electron-transfer-flavoprotein, alpha polypeptide(M)
ETFA (15q23-q25)


* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.25)
Electron-transfer-flavoprotein, beta polypeptide(M)
ETFB (19q13.3-q13.4)


* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.26)
Electron-transferring-flavoprotein dehydrogenase(M)
ETFDH (4q32-q35)


* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.27)
* Multiple acyl-coa dehydrogenase deficiency - MADD (9.27)
ELOVL fatty acid elongase 4
ELOVL4 (6q14.1)


* Spinocerebellar ataxia 34 - SCA34 (13.30)
ELOVL fatty acid elongase 5
ELOVL5 (6p12.1)


* Spinocerebellar ataxia 38 - SCA38 (13.34)
Emerin
EMD (Xq28)


* Emery-dreifuss muscular dystrophy 1 - EDMD1 (1.2)
Endonuclease G, mitochondrial
ENDOG (9q34.11)


* Mitochondrial myopathy and multiple mtDNA deletions - (16.36)
Endoplasmic reticulum lipid raft-associated protein 1 (Erlin-1)
ERLIN1 (10q24.31)


* Spastic paraplegia 62 autosomal recessive - SPG62 (15.59)
Endothelin-converting enzyme like 1
ECEL1 (2q37.1)


* Arthrogryposis, distal, type 5D - DA5D (17.18)
Enolase 3, beta muscle specific
ENO3 (17pter-p11)


* Enolase deficiency - ENO3 (9.20)
* Glycogen storage disease XIII - GSD13 (9.20)
ER lipid raft associated 2
ERLIN2 (8p12-p11.21)


* Spastic paraplegia 18 - SPG18 (15.30)
* Spastic paraplegia 18A7, autosomal dominant - SPG18A (15.30, 15.30)
Eukaryotic translation elongation factor 2
EEF2 (19p13.3)


* Spinocerebellar ataxia 26 - SCA26 (13.23)
Exosome component 9
EXOSC9 (4q27 )


* Pontocerebellar hypoplasia, type 1D - PCH1D (12.20)
Exosome component 3
EXOSC3 (9p13.2)


* Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B (12.102)
Exosome component 8
EXOSC8 (13q13.1)


* Spinal muscular atrophy and cerebellar hypoplasia - (12.19)
Eyes absent 4
EYA4 (6q23-24)


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