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This gene encodes one member of the sodium channel alpha subunit gene family Complete information for col5a1 gene (protein coding), collagen type v alpha 1 chain, including Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder.
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This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. Diseases associated with map4k4 include anus, imperforate and renal dysplasia.
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Complete information for yap1 gene (protein coding), yes1 associated transcriptional regulator, including
Function, proteins, disorders, pathways, orthologs, and expression. This gene encodes a protein that belongs to the serine protease family Complete information for kdr gene (protein coding), kinase insert domain receptor, including
