pnp Phenotypes

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Phenotypes

Gene Literature (55)

Nucleotides (296)

Interactants (283)

XB-GENEPAGE-1011597

Gene Symbol: pnp Gene Name: purine nucleoside phosphorylase

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: pnp assayed (15 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (30 sources): Abnormal B cell morphology, Ataxia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Behavioral abnormality, Cerebral vasculitis, Failure to thrive, Generalized hypotonia, Hypotonia, Hypouricemia, Impaired T cell function, Intellectual disability, Lymph node hypoplasia, Lymphoma, Lymphopenia, Motor delay, Neutropenia in presence of anti-neutropil antibodies, Otitis media, Pneumonia, Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent viral infections, Sinusitis, Spastic diplegia, Splenomegaly, Tetraparesis, Tremor [+]
Mouse (29 sources): abnormal leukocyte physiology, abnormal mitochondrial physiology, abnormal myelopoiesis, abnormal urine nucleoside level, abnormal urine nucleotide level, decreased B cell proliferation, decreased B-1a cell number, decreased B-2 B cell number, decreased CD4-positive, alpha beta T cell number, decreased CD8-positive, naive alpha-beta T cell number, decreased cytotoxic T cell cytolysis, decreased double-positive T cell number, decreased marginal zone B cell number, decreased purine-nucleoside phosphorylase activity, decreased single-positive T cell number, embryonic lethality during organogenesis, complete penetrance, impaired humoral immune response, increased B-1b cell number, increased CD8-positive, alpha-beta memory T cell number, increased T follicular helper cell number, increased cellular sensitivity to gamma-irradiation, increased central memory CD4-positive, alpha-beta T cell number, increased central memory CD8 positive, alpha-beta T cell number, increased double-negative T cell number, increased effector memory CD4-positive, alpha-beta T cell number, increased effector memory CD8-positive, alpha-beta T cell number, increased pre-B cell number, increased thymocyte apoptosis, prenatal lethality, incomplete penetrance [+]
View all ortholog results at Monarch