Exome-wide screening identifies novel rare risk variants for bone mineral density

Kidney ‘pathway-orphan’ genes as a potential overlooked source of novel insights into kidney health and disease

“…C10orf105 single-pass membrane protein [15] expressed during kidney development [12,16] negative regulation of protein modification [17] linked to systemic lupus erythematosus, chronic kidney disease and glomerular filtration change measurement through variants in its enhancer region [18] interacts with PBRM1 [19] C17orf107 negative regulation of protein modification [17] expressed during kidney development [12,16,20] linked to serum alkaline phosphatase levels [21], associated with systemic lupus erythematosus [22] C22orf31 G-protein coupled receptor signaling [17] expressed during kidney development [12,16,20] interacts with HDAC1, LACRT, HDAC2, ACTA2, FBXO7 [19] linked to type 2 diabetes and chronic kidney disease through variants in its enhancer region [18], associated with bone mineral density [23] C2CD4D negative regulation of protein modification [17] expressed during kidney development [12,16,20] ortholog in zebrafish is involved in cell differentiation and development [24] linked to vitamin D measurement through a gene variant [21,25] and urinary metabolite measurement through variants in its enhancer region [18] interacts with DDX58 and CDH1 [19] FAM229A interacts with DDX39A [19] expressed during kidney development [12,16,20] linked to glomerular filtration rate through variants in its enhancer region [18] IQANK1 regulation of barbedend actin filament capping [15] expressed during kidney development [12,…”