Dataset | DISEASES Text-mining Gene-Disease Assocation Evidence Scores |
Category | disease or phenotype associations |
Type | disease |
Description | A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. (Human Disease Ontology, DOID_0060018) |
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6 genes co-occuring with the disease cd3gamma deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.