Human | UBR1 | 197131 | ubiquitin protein ligase E3 component n-recognin 1 | Death in childhood secondary to malabsorption |
Human | TMPRSS6 | 164656 | transmembrane protease, serine 6 | |
Human | AMN | 81693 | amnion associated transmembrane protein | Malabsorption of vitamin B12 (cyanocobalamin) |
Human | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Malabsorption of fat and fat-soluble vitamins |
Human | ABCB11 | 8647 | ATP-binding cassette, sub-family B (MDR/TAP), member 11 | Malabsorption of fat and fat-soluble vitamins |
Human | RFXANK | 8625 | regulatory factor X-associated ankyrin-containing protein | |
Human | CUBN | 8029 | cubilin (intrinsic factor-cobalamin receptor) | Malabsorption of vitamin B12 (cyanocobalamin) |
Human | SLC5A1 | 6523 | solute carrier family 5 (sodium/glucose cotransporter), member 1 | Glucose breath hydrogen test shows malabsorption of glucose and galactose |
Human | SLC2A2 | 6514 | solute carrier family 2 (facilitated glucose transporter), member 2 | |
Human | SI | 6476 | sucrase-isomaltase (alpha-glucosidase) | |
Human | RMRP | 6023 | RNA component of mitochondrial RNA processing endoribonuclease | |
Human | RFXAP | 5994 | regulatory factor X-associated protein | |
Human | RFX5 | 5993 | regulatory factor X, 5 (influences HLA class II expression) | |
Human | ABCB4 | 5244 | ATP-binding cassette, sub-family B (MDR/TAP), member 4 | Malabsorption of fat and fat-soluble vitamins |
Human | ATP8B1 | 5205 | ATPase, aminophospholipid transporter, class I, type 8B, member 1 | Malabsorption of fat and fat-soluble vitamins |
Human | PDK4 | 5166 | pyruvate dehydrogenase kinase, isozyme 4 | results support the concept that a reduced tissue availability of fatty acids consequent to a massive lipid malabsorption influences glucose metabolism acting through the regulation of pyruvate dehydrogenase kinase 4 |
Human | PCSK1 | 5122 | proprotein convertase subtilisin/kexin type 1 | Malabsorption (small intestine) |
Human | CIITA | 4261 | class II, major histocompatibility complex, transactivator | |
Human | TYMP | 1890 | thymidine phosphorylase | |
Human | DNMT3B | 1789 | DNA (cytosine-5-)-methyltransferase 3 beta | |
Human | CYP7A1 | 1581 | cytochrome P450, family 7, subfamily A, polypeptide 1 | common variant A203C of the CYP7A1 gene markedly affects cholesterol 7-alpha-hydroxylase activity in patients with severe bile salt malabsorption |
Human | AIRE | 326 | autoimmune regulator | |