191
|
|
|
Epsin 2 |
EHB21 |
|
192
|
|
|
Elongation factor for RNA polymerase II 2 |
MRCCAT1 |
|
193
|
|
|
EFR3 homolog B |
KIAA0953 |
|
194
|
|
|
ER membrane protein complex subunit 1 |
CAVIPMR, KIAA0090 |
Astigmatism, Atrophy of corpus callosum, Central visual impairment, Cerebellar atrophy, Cerebellar atrophy, visual impairment, and psychomotor retardation, Cerebral atrophy, Congenital anomalies of kidney and urinary tract, Developmental delay, Esotropia, Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, Hyperopia, Hypoplasia of corpus callosum, Imperforate anus, Mental retardation, Movement disorders, Myopia, Optic atrophy, Scoliosis, Speech delayView all (4 more) |
195
|
|
|
Endoplasmic reticulum protein 44 |
PDIA10, TXNDC4 |
|
196
|
|
|
ELKS/RAB6-interacting/CAST family member 1 |
Cast2, ELKS, ERC-1, RAB6IP2 |
|
197
|
|
|
Exophilin 5 |
EBS4, SLAC2-B, SLAC2B |
|
198
|
|
|
Erythrocyte membrane protein band 4.1 like 3 |
4.1B, DAL-1, DAL1 |
|
199
|
|
|
Exocyst complex component 6B |
SEC15B, SEC15L2, SEMDJL3 |
Congenital clubfoot, Dislocated radial head, Cutis marmorata, Developmental delay, Dolichocephaly, Dwarfism, Dysmorphic features, Ectopia lentis, Eczema, Heart septal defects, High palate, Hirschsprung disease, Mental retardation, Micromelia, Movement disorders, Myopia, Nystagmus, Osteopenia, Penile hypospadias, Proptosis, Scoliosis, Spondyloepimetaphyseal dysplasia, Spondyloepimetaphyseal dysplasia with joint laxityView all (8 more) |
200
|
|
|
EH domain binding protein 1 |
HPC12, NACSIN |
|