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 (13.43)
Early growth response 2 protein
EGR2 (10q21.1)


* Dejerine-Sottas neuropathy - DSN (14.4, 14.23, 14.38)
* Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.23, 14.38)
* Neuropathy, congenital hypomyelinating - CHN (14.4, 14.23, 14.38)
* Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.23, 14.38)
ectonucleoside triphosphate diphosphohydrolase 1
ENTPD1 (10q24.1)


* Spastic paraplegia 64, autosomal recessive - SPG64 (15.56)
Electron-transfer-flavoprotein, alpha polypeptide(M)
ETFA (15q23-q25)


* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.19)
Electron-transfer-flavoprotein, beta polypeptide(M)
ETFB (19q13.3-q13.4)


* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.20)
Electron-transferring-flavoprotein dehydrogenase(M)
ETFDH (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)
ELOVL fatty acid elongase 4
ELOVL4 (6q14.1)


* Spinocerebellar ataxia 34 - SCA34 (13.31)
ELOVL fatty acid elongase 5
ELOVL5 (6p12.1)


* Spinocerebellar ataxia 38 - SCA38 (13.35)
Emerin
EMD (Xq28)


* Emery-dreifuss muscular dystrophy 1 - EDMD1 (1.2)
Enolase 3, beta muscle specific
ENO3 (17pter-p11)


* Enolase deficiency - ENO3 (9.15)
* Glycogen storage disease XIII - GSD13 (9.15)
ER lipid raft associated 1 (Erlin-1)
ERLIN1 (10q24.31)


* Spastic paraplegia 62 autosomal recessive - SPG62 (15.54)
ER lipid raft associated 2
ERLIN2 (8p12-p11.21)


* Spastic paraplegia 18 - SPG18 (15.25)
Eukaryotic translation elongation factor 2
EEF2 (19p13.3)


* Spinocerebellar ataxia 26 - SCA26 (13.24)
Exosome component 3
EXOSC3 (9p13.2)


* Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B (12.69)
Exosome component 8
EXOSC8 (13q13.1)


* Spinal muscular atrophy and cerebellar hypoplasia - (12.33)
Eyes absent 4
EYA4 (6q23-24)


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