proteinosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description disordered protein formation and distribution, especially manifested by the accumulation of excess or abnormal proteins in tissues (Mammalian Phenotype Ontology, MP_0010999)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010999
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Genes

5 gene mutations causing the proteinosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRF5 adhesion G protein-coupled receptor F5
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2