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- EDA: ectodysplasin A
- EDAR: ectodysplasin A receptor
- EDARADD: EDAR-associated death domain
- EDN3: endothelin 3
- EDNRB: endothelin receptor type B
- EGR2: early growth response 2 (Krox-20 homolog, Drosophila)
- EIF2B1: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
- EIF2B2: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
- EIF2B3: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
- EIF2B4: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
- EIF2B5: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
- ELN: elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
- EMD: emerin (Emery-Dreifuss muscular dystrophy)
- ENAM: enamelin
- ENG: endoglin (Osler-Rendu-Weber syndrome 1)
- EP300: E1A binding protein p300
- ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
- ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6
- ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
- ESPN: espin
- ETFA: electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)
- ETFB: electron-transfer-flavoprotein, beta polypeptide
- ETFDH: electron-transferring-flavoprotein dehydrogenase
- ETHE1: ethylmalonic encephalopathy 1
- EVC: Ellis van Creveld syndrome
- EVC2: Ellis van Creveld syndrome 2 (limbin)
- EXT1: exostoses (multiple) 1
- EXT2: exostoses (multiple) 2
- EYA1: eyes absent homolog 1 (Drosophila)
- EYA4: eyes absent homolog 4 (Drosophila)
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