Details of HMBS gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| HMBS | PBGD | UPS | P08397 | HEM3_HUMAN
| P08396
| Q16012 | Acute intermitten |
Phenotypes
Abdominal pain, Abdominal symptom, Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormality of blood and blood-forming tissues, Abnormality of cardiovascular system physiology, Abnormality of central motor function, Abnormality of erythrocytes, 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 bladder, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the gastrointestinal tract, Abnormality of the genitourinary system, Abnormality of the intestine, Abnormality of the liver, Abnormality of the lower urinary tract, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the respiratory system, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Acute episodes of neuropathic symptoms, All, Anxiety, Arrhythmia, Autosomal dominant inheritance, Behavioural/Psychiatric Abnormality, Constipation, Depression, Diarrhea, Functional abnormality of the bladder, Functional respiratory abnormality, Gastrointestinal dysmotility, Gastrointestinal obstruction, Hepatocellular carcinoma, Hypertension, Ileus, Intestinal obstruction, Mode of inheritance, Muscle weakness, Nausea, Nausea and vomiting, Neoplasm, Neoplasm by anatomical site, Neoplasm of the gastrointestinal tract, Neoplasm of the liver, Paralysis, Paralytic ileus, Paresthesia, Peripheral neuropathy, Phenotypic abnormality, Psychosis, Psychotic episodes, Respiratory paralysis, Seizures, Sensory neuropathy, Tachycardia, Urinary incontinence, Urinary retention, Vomiting, Weakness of muscles of respiration.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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