Details of EIF2B1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| EIF2B1 | EIF2BA | Q14232 | EI2BA_HUMAN | 1967
| 3ECS
3ECS
| ENSG00000111361 | inconstant optic at |
Phenotypes
Abnormal axial skeleton morphology, Abnormal CNS myelination, Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormal internal genitalia, Abnormal muscle tone, Abnormality of central motor function, Abnormality of female internal genitalia, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of temperature regulation, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the endocrine system, Abnormality of the eye, Abnormality of the female genitalia, Abnormality of the forebrain, Abnormality of the fundus, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the glial cells, Abnormality of the head, Abnormality of the menstrual cycle, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the optic nerve, Abnormality of the ovary, Abnormality of the posterior segment of the eye, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of vision, Adult onset, Age of onset, All, Amenorrhea, Apathy, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Blindness, Cessation of head growth, Cognitive impairment, Decreased serum progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Fever, Gait disturbance, Gliosis, Hypertonia, Hypomyelination, Late onset, Lethargy, Macrocephaly, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Neurological speech impairment, Onset, Onset and clinical course, Optic atrophy, Personality changes, Phenotypic abnormality, Postnatal microcephaly, Premature ovarian failure, Primary amenorrhea, Primary gonadal insufficiency, Puberty and gonadal disorders, Reduced consciousness/confusion, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait, Visual impairment.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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