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 B12 deficiency
Accession: DOID:0050731
browse the term
Definition: A vitamin metabolic disorder that results from low blood levels of vitamin B12. (DO)
Synonyms: exact_synonym: cobalamin deficiency; hypocobalaminemia; vitamin B12 deficiencies
narrow_synonym: acquired cobalamin-deficient neuropathy; vitamin B12 deficiency anemia
primary_id: MESH:D014806
alt_id: MIM:612542
xref: EFO:0000734
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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: Vitamin B12 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:135,127,052...135,138,768
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
OMIM
NCBI chr 1:96,119,549...96,139,567
Ensembl chr 1:96,119,371...96,140,360
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Gpx3
glutathione peroxidase 3
treatment
ISO
RGD
PMID:11115425
RGD:401827848
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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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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Cblif
cobalamin binding intrinsic factor
ISO
ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency CTD Direct Evidence: marker/mechanism DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 PMID:17576681 PMID:19036097 PMID:20408840 PMID:22854512 PMID:22929189 PMID:24033266 PMID:25308559 PMID:25640679 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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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:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:30523278 PMID:30691194 PMID:32045704 PMID:33491342 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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Cdc42bpb
CDC42 binding protein kinase beta
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:32045704 More...
NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377
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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:17668238 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26040326 PMID:26467025 PMID:27197912 PMID:28204945 PMID:28492532 PMID:29402915 PMID:29801666 PMID:30220432 PMID:30547231 PMID:31497480 PMID:31613795 PMID:33226606 PMID:33532864 PMID:34610128 PMID:34979989 PMID:36112210 PMID:36891821 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...77,440,384
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...76,884,178
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 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
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:21750092 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:30523278 PMID:32045704 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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Cdc42bpb
CDC42 binding protein kinase beta
ISO
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar
PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:32045704 More...
NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377
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Cubn
cubilin
ISO
DNA:missense mutation:cds:p.P1297L (human) 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 CTD Direct Evidence: marker/mechanism
ClinVar CTD 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:25349199 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27197912 PMID:28492532 PMID:29402915 PMID:29801666 PMID:30220432 PMID:30547231 PMID:31497480 PMID:31613795 PMID:33226606 PMID:33532864 PMID:34610128 PMID:34979989 PMID:36112210 PMID:36891821 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:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:26040326 PMID:28492532 PMID:30523278 PMID:32045704 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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Cdc42bpb
CDC42 binding protein kinase beta
ISO
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE
ClinVar
PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:32045704 More...
NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377
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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:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 PMID:28572511 PMID:30651581 PMID:33729671 PMID:33845046 More...
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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Lmbrd1
LMBR1 domain containing 1
ISO
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar
PMID:16199547 PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 PMID:26997947 PMID:28492532 More...
NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
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Mmachc
metabolism of cobalamin associated C
ISO ISS
ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | 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 OMIM:277400 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO 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:19573432 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:21697092 PMID:21835369 PMID:22447314 PMID:22560872 PMID:22642810 PMID:23241609 PMID:23580368 PMID:23591356 PMID:23754956 PMID:23757202 PMID:23825108 PMID:23837176 PMID:23932106 PMID:23954310 PMID:24033266 PMID:24126030 PMID:24210589 PMID:24577983 PMID:24599607 PMID:24853097 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:26464686 PMID:26467025 PMID:26563984 PMID:26658511 PMID:26825575 PMID:26979128 PMID:26990548 PMID:27252276 PMID:27383490 PMID:27751223 PMID:28151490 PMID:28218226 PMID:28327205 PMID:28337550 PMID:28454995 PMID:28481040 PMID:28492532 PMID:28693988 PMID:28835862 PMID:29068997 PMID:29294253 PMID:29302025 PMID:29340559 PMID:29379858 PMID:29453417 PMID:29581464 PMID:29731766 PMID:30157807 PMID:30197982 PMID:30209273 PMID:30293248 PMID:30863077 PMID:31092259 PMID:31130284 PMID:31137025 PMID:31278756 PMID:31279840 PMID:31470807 PMID:31503356 PMID:31555752 PMID:31574870 PMID:31589614 PMID:31998365 PMID:32058304 PMID:32071835 PMID:32099815 PMID:32164588 PMID:32439973 PMID:32457044 PMID:32481360 PMID:32943488 PMID:33411215 PMID:33473346 PMID:33515116 PMID:33562640 PMID:33691766 PMID:33726816 PMID:33931066 PMID:33982424 PMID:34102818 PMID:34215320 PMID:34356170 PMID:34389282 PMID:34445196 PMID:35156754 PMID:35190856 PMID:35193651 PMID:35361390 PMID:36184083 PMID:36338977 PMID:38387306 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:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532 PMID:32252256 PMID:33552904 More...
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, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16311595 PMID:17576681 PMID:20631720 PMID:23954310 PMID:25388550 PMID:25741868 PMID:25772322 PMID:27383490 PMID:28327205 PMID:28492532 PMID:29302025 PMID:32099815 PMID:34215320 PMID:35190856 More...
NCBI chr 5:130,147,258...130,162,856
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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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:135,127,052...135,138,768
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:2430590 PMID:7849710 PMID:7980584 PMID:9536098 PMID:10518276 PMID:12091374 PMID:12194912 PMID:12707225 PMID:14632784 PMID:16199547 PMID:17220211 PMID:17576681 PMID:18956254 PMID:19373259 PMID:20352340 PMID:20607612 PMID:22188304 PMID:24033266 PMID:25741868 PMID:25914105 PMID:26827111 PMID:27155006 PMID:28492532 PMID:29631995 PMID:31666257 PMID:32888943 PMID:33023511 PMID:34440436 More...
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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