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Details of GALE gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| GALE | --- | Q14376 | GALE_HUMAN | 2582 | Q9UJB4 | 1EK5 1EK6 1HZJ 1I3K 1I3L 1I3M 1I3N 1EK5 1EK6 1HZJ 1I3K 1I3L 1I3M 1I3N | liver damage | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Epimerase-deficiency galactosemia (EDG) [MIM:230350]: Clinical features include early-onset cataracts | deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign | ||||||||
Phenotypes
Abdominal symptom, Abnormal muscle tone, Abnormality of amino acid metabolism, Abnormality of body weight, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the biliary system, Abnormality of the central nervous system, Abnormality of the ear, Abnormality of the genitourinary system, Abnormality of the immune system, Abnormality of the inner ear, Abnormality of the integument, Abnormality of the liver, Abnormality of the lymphatic system, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the skin, Abnormality of the spleen, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Aciduria, All, Aminoaciduria, Autosomal recessive inheritance, Cholestasis, Cognitive impairment, Decreased body weight, Delayed gross motor development, Delayed speech and language development, Dermatological manifestations of systemic disorders, Failure to thrive, Functional abnormality of the inner ear, Galactose intolerance, Generalized abnormality of skin, Global developmental delay, Growth abnormality, Hearing abnormality, Hearing impairment, Hepatomegaly, Impairment of galactose metabolism, Jaundice, Mode of inheritance, Motor delay, Muscular hypotonia, Nausea and vomiting, Phenotypic abnormality, Sensorineural hearing impairment, Splenomegaly, Visceromegaly, Vomiting.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||