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Summary Expression Phenotypes Gene Literature (0) GO Terms (6) Nucleotides (237) Proteins (48) Interactants (14) Wiki

npc2     Niemann-Pick disease, type C2

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: npc2 assayed (2 sources)
Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (29 sources): Abnormal circulating cholesterol concentration, Ataxia, Bone-marrow foam cells, CNS foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fetal ascites, [+]
Mouse (20 sources): Purkinje cell degeneration, abnormal alveolar macrophage morphology, abnormal circulating potassium level, abnormal lipid homeostasis, abnormal lipid level, abnormal locomotor behavior, abnormal lung vasculature morphology, abnormal lysosome morphology, abnormal surfactant composition, abnormal type II pneumocyte morphology, [+]

View all ortholog results at Monarch