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 | SLC46A1 | 113235 | solute carrier family 46 (folate transporter), member 1 | Mutations in the PCFT gene is associated with malabsorption syndromes |
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 | PEX26 | 55670 | peroxisomal biogenesis factor 26 | INFERRED, Score=800, UMLKSK CUI: C0024523 |
Human | SAR1B | 51128 | SAR1 homolog B (S. cerevisiae) | INFERRED, Score=800, UMLKSK CUI: C0024523 |
Human | SBDS | 51119 | Shwachman-Bodian-Diamond syndrome | INFERRED, Score=800, UMLKSK CUI: C0024523 |
Human | CTRC | 11330 | chymotrypsin C (caldecrin) | INFERRED, Score=800, UMLKSK CUI: C0024523 |
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 | SPINK1 | 6690 | serine peptidase inhibitor, Kazal type 1 | INFERRED, Score=800, UMLKSK CUI: C0024523 |
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 | RAPSN | 5913 | receptor-associated protein of the synapse | INFERRED, Score=800, UMLKSK CUI: C0024523 |
Human | PEX2 | 5828 | peroxisomal biogenesis factor 2 | INFERRED, Score=800, UMLKSK CUI: C0024523 |
Human | PRSS1 | 5644 | protease, serine, 1 (trypsin 1) | INFERRED, Score=800, UMLKSK CUI: C0024523 |
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 | PEX1 | 5189 | peroxisomal biogenesis factor 1 | INFERRED, Score=800, UMLKSK CUI: C0024523 |