| Gene |
Chromosome |
Location |
Syndrome |
Category |
| EBF3 | 10 | q26.3 | Hypotonia ataxia and delayed development syndrome | Autism spectrum | |
| ECEL1 | 2 | q37.1 | Distal arthrogryposis type 5 | Arthrogryposis spectrum | |
| ECM1 | 1 | q21.2 | Lipoid proteinosis | Alopecia | |
| EEF1A2 | 20 | q13.33 | EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-2 | Autism spectrum | |
| EEOC | 15 | q26.1 | EPILEPTIC ENCEPHALOPATHY CHILDHOOD-ONSET | Autism spectrum | |
| EFHC1 | 6 | p12.2 | Juvenile myoclonic epilepsy | Epilepsy and seizures | |
| EFTUD2 | 17 | q21.31 | Mandibulofacial dysostosis with microcephaly | Microcephaly | |
| EGR2 | 10 | q21.3 | EARLY GROWTH RESPONSE 2 | Autism spectrum | |
| EHMT1 | 9 | q34.3 | Kleefstra sndrome | Autism spectrum | |
| EHMT1 | 9 | q34.3 | Microcephaly - other | Microcephaly | |
| EIEE1 | 23 | p21.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 1 | Autism spectrum | |
| EIEE11 | 2 | q24.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 11 | Autism spectrum | |
| EIEE13 | 12 | q13.13 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 13 | Autism spectrum | |
| EIEE2 | 23 | p22.13 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 2 | Autism spectrum | |
| EIEE24 | 5 | p12 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 24 | Autism spectrum | |
| EIEE27 | 12 | p13.1 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 27 | Autism spectrum | |
| EIEE30 | 21 | q22.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 30 | Autism spectrum | |
| EIEE33 | 20 | q13.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 33 | Autism spectrum | |
| EIEE42 | 19 | p13.13 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 42 | Autism spectrum | |
| EIEE46 | 19 | q13.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 46 | Autism spectrum | |
| EIEE47 | 3 | q28-q29 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 47 | Autism spectrum | |
| EIEE54 | 1 | q44 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 54 | Autism spectrum | |
| EIEE56 | 7 | q11.23 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 56 | Autism spectrum | |
| EIEE58 | 9 | q21.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 58 | Autism spectrum | |
| EIEE59 | 9 | q22.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 59 | Autism spectrum | |
| EIEE6 | 2 | q24.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 6 | Autism spectrum | |
| EIEE66 | 14 | q32.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 66 | Autism spectrum | |
| EIEE67 | 12 | q24.11-12 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 67 | Autism spectrum | |
| EIEE70 | 6 | p24.1 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 70 | Autism spectrum | |
| EIEE9 | 23 | q22.1 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 9 | Autism spectrum | |
| EIF2AK3 | 2 | p11.2 | Zaki-Gleeson syndrome | Autism spectrum | |
| EIF4E | 4 | q23 | Eukaryotic translation error syndrome | Autism spectrum | |
| EIF4EBP2 | 10 | q22.1 | EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2 | Autism spectrum | |
| EIF4G1 | 3 | q27.1 | Parkinson disease 18 | Parkinsonism |
| EIG15 | 9 | q21.13 | EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 15 | Autism spectrum | |
| ELN | 7 | q11.23 | 7q11.23 duplication syndrome | Panic phobia anxiety | |
| ELOVL5 | 6 | p12.1 | Spinocerebellar ataxia type 38 | Ataxia spectrum | |
| ELP4 | 11 | p13 | ELONGATOR ACETYLTRANSFERASE COMPLEX SUBUNIT 4 | Autism spectrum | |
| EMD | 23 | q28 | Emery-Dreifuss muscular dystrophy | Bradycardia (<60 beats/minute) | |
| EMG1 | 12 | p13.3 | Bowen-Conradi syndrome | Cleft lip / cleft palate | |
| EMG1 | 12 | p13.31 | Microcephaly - other | Microcephaly | |
| EN2 | 7 | q36.3 | Autism 18 (AUTS18) | Autism spectrum | |
| ENPP1 | 6 | q23.2 | Type 2 Diabetes | Diabetes | |
| EOMES | 3 | p24.1 | Zaki-Gleeson syndrome | Autism spectrum | |
| EP300 | 22 | q13.2 | Rubinstein-Taybi syndrome | Autism spectrum | |
| EPHA2 | 1 | P36.13 | Cataract 06 multiple types (CTRCT6) | Cataracts | |
| EPM2A | 6 | q24.3 | Lafora progressive myoclonus epilepsy | Epilepsy and seizures | |
| EPO | 7 | q22.1 | Microvascular complications of diabetes 2 | Diabetes | |
| ERBB3 | 12 | q13 | Lethal arthrogryposis with anterior horn cell disease | Arthrogryposis spectrum | |
| ERBB4 | 2 | q34 | ALS | ALS - amyotrophic lateral sclerosis | |
| ERC1 | 12 | p13.33 | Thyroid disorders | Hypothyroidism | |
| ERCC1 | 19 | q13.32 | Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) | Arthrogryposis spectrum | |
| ERCC6 | 10 | q11.23 | Cockayne syndrome | Microcephaly | |
| ERCC8 | 5 | q12.1 | Cockayne syndrome | Microcephaly | |
| ESCO2 | 8 | p21.1 | Roberts syndrome | Cleft lip / cleft palate | |
| ESCO2 | 8 | p21.1 | Microcephaly - other | Microcephaly | |
| ETS1 | 11 | q23.3 | Jacobsen syndrome | Autism spectrum | |
| ETV6 | 12 | p13.2 | Acute myeloid leukemia | Leukemia | |
| EXOSC3 | 9 | p11 | Pontocerebellar hypoplasia | Microcephaly | |
| EXT2 | 11 | p11-12 | Potocki-Shaffer syndrome | Autism spectrum | |
| extra Y | 23 | Y | 47 XYY | Autism spectrum | |
| EYA1 | 8 | q13.3 | Lens clouding / cornea clouding | Cataracts | |