Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hereditary folate malabsorption | | IAGP | RGD:11655962 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:13485800 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:25741868 | hereditary folate malabsorption | | IAGP | RGD:28904289 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:25741868, PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:151831073 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:25741868, PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:8555848 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:17446347 more ... | hereditary folate malabsorption | | IAGP | RGD:28894129 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:25741868 | hereditary folate malabsorption | | IAGP | RGD:8555847 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:17446347, PMID:20301716 | hereditary folate malabsorption | | IAGP | RGD:8555849 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:17446347, PMID:20301716 | hereditary folate malabsorption | | IAGP | RGD:8555850 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:17446347, PMID:20301716 | hereditary folate malabsorption | | IAGP | RGD:8567022 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:17446347 more ... | hereditary folate malabsorption | | IAGP | RGD:8555846 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:11807405 more ... | hereditary folate malabsorption | | IAGP | RGD:11525815 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:25741868, PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:11646734 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:150543500 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:25741868, PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:8573355 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:17446347 more ... | hereditary folate malabsorption | | IAGP | RGD:11624409 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:126728316 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:25741868 | hereditary folate malabsorption | | IAGP | RGD:21070231 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:25741868 | hereditary folate malabsorption | | IAGP | RGD:28901972 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:28908309 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:28903804 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901322 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901523 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28894131 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28908147 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901768 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:15181495 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:28901759 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28907862 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28907865 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28907999 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28904282 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:15167144 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:28894376 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28908306 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901979 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901764 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901762 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28908314 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28908139 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28908002 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28908001 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28894124 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28894371 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901771 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28908142 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28908145 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:8567024 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:17446347, PMID:20301716 | hereditary folate malabsorption | | IAGP | RGD:28907695 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901976 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28904286 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11640829 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:28901324 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901327 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28907996 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28903801 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28894605 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901528 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901530 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901320 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28901526 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28894601 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11614299 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:28901317 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:13535593 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:19176287, PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:11618819 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:10049590 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:11619361 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11622092 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11624516 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11621769 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11618774 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11622311 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11620612 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11622724 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11614119 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11615486 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11661310 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11614908 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11618571 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11651238 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11662608 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11663989 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11654375 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11615464 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11657005 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11622978 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11628786 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11623379 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11627079 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11614163 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11616522 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11622695 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11663216 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11620290 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11618352 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11625563 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11654972 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11628271 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11620942 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11619580 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11614917 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11620853 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11624255 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11613337 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11613529 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11626204 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:8568672 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | PMID:11804211, PMID:21333572 | hereditary folate malabsorption | | IAGP | RGD:11632178 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11660047 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:8568674 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | PMID:21333572 | hereditary folate malabsorption | | IAGP | RGD:11630308 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:8555851 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | PMID:18559978 | hereditary folate malabsorption | | IAGP | RGD:11631936 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11621086 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11635501 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11659257 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11618698 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11645362 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11617692 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11625510 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11627959 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11644294 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11634700 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11626153 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11648884 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11652067 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11631758 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:8568673 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:21333572 more ... | hereditary folate malabsorption | | IAGP | RGD:11616565 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11617631 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11625384 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11655494 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11626735 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11620341 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11624950 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11651399 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11621989 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:28908312 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:19176287, PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:11658349 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11631449 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:10049591 | 8554872 | ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar | PMID:28492532 | hereditary folate malabsorption | | IAGP | RGD:11624279 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11660188 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:11651967 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | hereditary folate malabsorption | | IAGP | RGD:8602371 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | PMID:20795774, PMID:21333572 | hereditary folate malabsorption | | IAGP | RGD:11629771 | 8554872 | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar | | intellectual disability | | IAGP | RGD:11525815 | 8554872 | ClinVar Annotator: match by term: intellectual disabilities | ClinVar | PMID:25741868, PMID:28492532 | |
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
|
||||||||
Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - SMPDB
Phenotype Annotations Click to see Annotation Detail View
Imported Human Phenotype Annotations - HPO
Imported Human Phenotype Annotations - ClinVar
Disease Annotations
Click to see Annotation Detail View
|
|
|
Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
|
|
|
Cellular Component
|
|
|
Molecular Function
|
|
|
Molecular Pathway Annotations
Click to see Annotation Detail View
|
|
|
Phenotype Annotations
Click to see Annotation Detail View
Human Phenotype
|
|
|
References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. | Blom HJ and Smulders Y, J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4. |
| 2. | Effect of chronic kidney disease on the expression of thiamin and folic acid transporters. | Bukhari FJ, etal., Nephrol Dial Transplant. 2011 Jul;26(7):2137-44. doi: 10.1093/ndt/gfq675. Epub 2010 Dec 13. |
| 3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 4. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 7. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 8. | Update and new concepts in vitamin responsive disorders of folate transport and metabolism. | Watkins D and Rosenblatt DS, J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23. |
Additional References at PubMed
| PMID:12477932 | PMID:14702039 | PMID:15489334 | PMID:16143108 | PMID:16344560 | PMID:17129779 | PMID:17156779 | PMID:17335806 | PMID:17446347 | PMID:17475902 | PMID:17947394 | PMID:18003745 |
| PMID:18187620 | PMID:18650265 | PMID:18718264 | PMID:18817749 | PMID:18842806 | PMID:19074442 | PMID:19176287 | PMID:19371039 | PMID:19389703 | PMID:19403800 | PMID:19508863 | PMID:19581412 |
| PMID:19643086 | PMID:19762432 | PMID:19913121 | PMID:20005757 | PMID:20036773 | PMID:20225891 | PMID:20301716 | PMID:20628086 | PMID:20686069 | PMID:20724482 | PMID:20795774 | PMID:20805364 |
| PMID:21256110 | PMID:21333572 | PMID:21338559 | PMID:21489556 | PMID:21602279 | PMID:21873635 | PMID:22179615 | PMID:22345511 | PMID:22496243 | PMID:22785121 | PMID:22843796 | PMID:22954694 |
| PMID:23313509 | PMID:23552283 | PMID:23601781 | PMID:23609145 | PMID:23656756 | PMID:24396145 | PMID:24597986 | PMID:25053408 | PMID:25080503 | PMID:25124723 | PMID:25608532 | PMID:25697897 |
| PMID:25801697 | PMID:25877470 | PMID:26186194 | PMID:26193446 | PMID:26789141 | PMID:26884338 | PMID:27251438 | PMID:27664775 | PMID:28112518 | PMID:28138029 | PMID:28514442 | PMID:28802835 |
| PMID:28945836 | PMID:29167151 | PMID:29208467 | PMID:29344585 | PMID:30858177 | PMID:30914440 | PMID:31494288 | PMID:31791063 | PMID:31900314 | PMID:31926453 | PMID:32493992 | PMID:32621820 |
| PMID:32893190 | PMID:33387348 | PMID:33737637 | PMID:33845483 | PMID:34040256 | PMID:34619546 | PMID:35271311 | PMID:35811443 | PMID:35944360 |
Genomics
Comparative Map Data
| SLC46A1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Slc46a1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Slc46a1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Slc46a1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SLC46A1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SLC46A1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Slc46a1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SLC46A1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SLC46A1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Slc46a1 (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Variants
.
Variants in SLC46A1
235 total Variants 
|
