RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: vitamin metabolic disorder
Accession: DOID:0050718
browse the term
Definition: An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. (DO)
Synonyms: primary_id: RDO:9003867
For additional species annotation, visit the
Alliance of Genome Resources .
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Anapc15
anaphase promoting complex subunit 15
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145
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Dhcr7
7-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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Folr1
folate receptor alpha
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18842806 PMID:19732866 PMID:20018644 PMID:20683905 PMID:21752681 PMID:21937992 PMID:22586289 PMID:22695967 PMID:24556562 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27781028 PMID:27884173 PMID:28054128 PMID:28492532 PMID:29661558 PMID:29961769 More...
NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667
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Il18bp
interleukin 18 binding protein
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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Lamtor1
late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179
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LOC685544
hypothetical protein LOC685544
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817
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Lrtomt
leucine rich transmembrane and O-methyltransferase domain containing
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704
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Nadsyn1
NAD synthetase 1
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:198,981,559...199,009,806
Ensembl chr 1:198,981,604...199,009,869
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Numa1
nuclear mitotic apparatus protein 1
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
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Rnf121
ring finger protein 121
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,377,583...156,439,923
Ensembl chr 1:156,377,364...156,446,826
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Cblif
cobalamin binding intrinsic factor
ISO
ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
OMIM ClinVar RGD
PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 PMID:22854512 PMID:22929189 PMID:24033266 PMID:25308559 PMID:25741868 PMID:27577878 PMID:28492532 PMID:14695536 More...
RGD:11049582
NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18458655
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apob
apolipoprotein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18458655
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Ttpa
alpha tocopherol transfer protein
ISO
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 PMID:8965888 PMID:9270601 PMID:9463307 PMID:9536098 PMID:9588854 PMID:9931538 PMID:10360777 PMID:10896705 PMID:11013295 PMID:11752462 PMID:11916749 PMID:12039660 PMID:12112220 PMID:12470185 PMID:12899840 PMID:12907280 PMID:14657365 PMID:15065857 PMID:15300460 PMID:15953402 PMID:16199547 PMID:16819822 PMID:17049453 PMID:17576681 PMID:18414213 PMID:18458085 PMID:18458655 PMID:19566498 PMID:21228398 PMID:22479462 PMID:22696689 PMID:23077608 PMID:23445347 PMID:23599266 PMID:23713716 PMID:24033266 PMID:24369383 PMID:25066259 PMID:25614784 PMID:25741868 PMID:26068213 PMID:26467025 PMID:27274910 PMID:27307040 PMID:28492532 PMID:31970222 PMID:34563650 More...
NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
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Col6a2
collagen type VI alpha 2 chain
ISO
ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency
ClinVar
PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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Ftcd
formimidoyltransferase cyclodeaminase
ISO
ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency
OMIM ClinVar
PMID:9536098 PMID:12815595 PMID:17576681 PMID:18414213 PMID:23757202 PMID:24088041 PMID:24801232 PMID:25741868 PMID:26467025 PMID:26633545 PMID:28492532 PMID:29178637 PMID:29869163 PMID:30740726 PMID:31589614 More...
NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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Sarm1
sterile alpha and TIR motif containing 1
ISO
ClinVar Annotator: match by term: Congenital defect of folate absorption
ClinVar
PMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 PMID:20686069 PMID:21489556 PMID:25741868 PMID:27664775 PMID:28492532 More...
NCBI chr10:63,369,456...63,393,016
Ensembl chr10:63,369,456...63,392,822
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Slc46a1
solute carrier family 46 member 1
ISO
ClinVar Annotator: match by term: Congenital defect of folate absorption CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 PMID:18559978 PMID:19176287 PMID:19740703 PMID:20301716 PMID:20686069 PMID:20795774 PMID:21333572 PMID:21346251 PMID:21489556 PMID:22843796 PMID:25741868 PMID:27664775 PMID:28492532 More...
NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848
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Amn
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:17576681 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24156255 PMID:28492532 PMID:30041674 PMID:30523278 PMID:30691194 More...
NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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Cacnb2
calcium voltage-gated channel auxiliary subunit beta 2
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17576681 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26040326 PMID:27197912 PMID:28492532 PMID:31497480 PMID:31613795 PMID:33532864 More...
NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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Hacd1
3-hydroxyacyl-CoA dehydratase 1
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073
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Slc39a12
solute carrier family 39 member 12
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr17:77,353,761...77,440,381
Ensembl chr17:77,353,805...77,440,353
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St8sia6
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr17:76,740,755...76,883,766
Ensembl chr17:76,745,224...76,884,299
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Stam
signal transducing adaptor molecule
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467
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Traf3
Tnf receptor-associated factor 3
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
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Trdmt1
tRNA aspartic acid methyltransferase 1
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439
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Vim
vimentin
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Amn
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:21750092 PMID:22078000 PMID:22929189 PMID:24156255 PMID:25741868 PMID:28492532 PMID:30523278 More...
NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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Cblif
cobalamin binding intrinsic factor
ISO
DNA:polymorphisms, missense mutations, splice sites:exon,intron: protein:increased excretion:urine:
RGD
PMID:15738392 PMID:10435666
RGD:11049583 , RGD:11049586
NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
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Cubn
cubilin
ISO
DNA:missense mutation:cds:p.P1297L (human) ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar OMIM RGD
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17576681 PMID:17668238 PMID:21208123 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25525159 PMID:25741868 PMID:27197912 PMID:28492532 PMID:31497480 PMID:33532864 PMID:10080186 More...
RGD:61796
NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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Amn
amnion associated transmembrane protein
ISO
DNA:mutation:splice site: ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type
OMIM ClinVar RGD
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:22078000 PMID:22929189 PMID:24156255 PMID:26040326 PMID:28492532 PMID:30523278 PMID:17114957 More...
RGD:11071839
NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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Abcd4
ATP binding cassette subfamily D member 4
ISO
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar
PMID:23141461 PMID:25234635 PMID:28572511 PMID:30651581 PMID:33845046
NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
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Dcdc2c
doublecortin domain containing 2C
ISO
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar
PMID:25741868
NCBI chr 6:45,103,838...45,179,040
Ensembl chr 6:45,061,553...45,178,046
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase
ClinVar
PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 PMID:27403441 PMID:28492532 More...
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Mmachc
metabolism of cobalamin associated C
ISO
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17576681 PMID:17768669 PMID:17853453 PMID:18164228 PMID:18245139 PMID:19370762 PMID:19700356 PMID:19760748 PMID:19767224 PMID:19836982 PMID:19914430 PMID:20219402 PMID:20549364 PMID:20610126 PMID:20631720 PMID:20652818 PMID:20924684 PMID:21055272 PMID:21114891 PMID:21228398 PMID:21835369 PMID:22447314 PMID:22560872 PMID:22642810 PMID:23241609 PMID:23580368 PMID:23757202 PMID:23825108 PMID:23837176 PMID:23932106 PMID:23954310 PMID:24033266 PMID:24126030 PMID:24210589 PMID:24577983 PMID:24599607 PMID:25388550 PMID:25398587 PMID:25511120 PMID:25668207 PMID:25672861 PMID:25687216 PMID:25689098 PMID:25741868 PMID:25772322 PMID:25809485 PMID:25894566 PMID:26149271 PMID:26253414 PMID:26270766 PMID:26283149 PMID:26287336 PMID:26412180 PMID:26464686 PMID:26563984 PMID:26658511 PMID:26825575 PMID:26979128 PMID:26990548 PMID:27252276 PMID:27383490 PMID:27751223 PMID:28151490 PMID:28218226 PMID:28327205 PMID:28454995 PMID:28481040 PMID:28492532 PMID:28693988 PMID:28835862 PMID:29042959 PMID:29294253 PMID:29379858 PMID:29396438 PMID:29453417 PMID:30157807 PMID:30209273 PMID:30293248 PMID:31092259 PMID:31278756 PMID:31279840 PMID:31470807 PMID:31503356 PMID:31555752 PMID:31574870 PMID:31998365 PMID:32071835 PMID:32164588 PMID:32943488 PMID:33473346 More...
NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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Mmadhc
metabolism of cobalamin associated D
ISO
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar
PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532
NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771
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Prdx1
peroxiredoxin 1
ISO
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive
OMIM ClinVar
PMID:25741868 PMID:29396438
NCBI chr 5:130,147,276...130,162,850
Ensembl chr 5:130,147,204...130,162,856
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Thap11
THAP domain containing 11
ISS
OMIM:277400
MouseDO
NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
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Cblif
cobalamin binding intrinsic factor
ISO
RGD
PMID:4434116 PMID:167441
RGD:11049584 , RGD:11049587
NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
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Pnpo
pyridoxamine 5'-phosphate oxidase
ISO
ClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures
OMIM ClinVar
PMID:9536098 PMID:15772097 PMID:16199547 PMID:17576681 PMID:18485777 PMID:19759001 PMID:20370816 PMID:21292558 PMID:22858719 PMID:23419474 PMID:23708187 PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25256445 PMID:25741868 PMID:25762494 PMID:26467025 PMID:27014579 PMID:27419045 PMID:27781031 PMID:28133863 PMID:28349276 PMID:28492532 PMID:28985901 PMID:29588952 More...
NCBI chr10:81,924,584...81,930,844
Ensembl chr10:81,924,569...81,930,871
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Cd40
CD40 molecule
treatment
IMP IDA
RGD
PMID:16716410 PMID:16716410
RGD:2313422 , RGD:2313422
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
IEP IDA
protein:increased expression:cerebrospinal fluid
RGD
PMID:16716410 PMID:16716410
RGD:2313422 , RGD:2313422
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Tcn2
transcobalamin 2
ISO
ClinVar Annotator: match by term: Transcobalamin II deficiency
OMIM ClinVar
PMID:7849710 PMID:7980584 PMID:9536098 PMID:10518276 PMID:12091374 PMID:12194912 PMID:12707225 PMID:14632784 PMID:17220211 PMID:17576681 PMID:19373259 PMID:20352340 PMID:22188304 PMID:24033266 PMID:25741868 PMID:27155006 PMID:28492532 PMID:29631995 More...
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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Abcd4
ATP binding cassette subfamily D member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22922874
NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
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Amn
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Cobalamin deficiency
ClinVar
PMID:25741868
NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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Calr
calreticulin
IEP
protein:increased expression:kidney (rat)
RGD
PMID:25982389
RGD:11352764
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Cbs
cystathionine beta synthase
IEP
protein:decreased expression:liver (rat)
RGD
PMID:2732804
RGD:40903037
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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Cd40lg
CD40 ligand
treatment
IDA
RGD
PMID:16716410
RGD:2313422
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Cfl1
cofilin 1
IEP
protein:increased expression:kidney (rat)
RGD
PMID:25982389
RGD:11352764
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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Fut2
fucosyltransferase 2
ISO
ClinVar Annotator: match by term: Vitamin b12 plasma level quantitative trait locus 1
OMIM ClinVar
PMID:7876234 PMID:7876235 PMID:8755920 PMID:8928486 PMID:12692541 PMID:18776911 PMID:25741868 PMID:30401457 More...
NCBI chr 1:96,119,549...96,139,567
Ensembl chr 1:96,119,371...96,140,360
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
IEP
protein:decreased expression,decreased activity:liver:
RGD
PMID:14646334
RGD:8694080
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:22568797
RGD:11553830
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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