Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: plcb1 (Xtr)
Disease
Source: DOID:10652
Definition: A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
Genes: plcb1 (Xtr)
Disease
Source: DOID:5419
Definition: A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
Genes: plcb1 (Xtr)
Disease
Source: DOID:9119
Definition: A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
Genes: plcb1 (Xtr)
Disease
Source: DOID:5844
Definition: A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
Genes: plcb1 (Xtr)
Disease
Source: DOID:0050908
Definition: A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
Genes: plcb1 (Xtr)
Source: DOID:0080459
Definition: A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.
Genes: plcb1 (Xtr)