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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
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Accession:DOID:0050718 term browser 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.

show annotations for term's descendants           Sort by:
 
cerebral folate receptor alpha deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:166,981,738...166,985,363
Ensembl chr 1:166,983,175...166,985,054 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904 		JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar Annotator: match by term: Cerebral folate deficiency
ClinVar Annotator: match by OMIM:613068		 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 NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:167,091,521...167,095,727
Ensembl chr 1:167,091,522...167,093,560 		JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:166,991,474...166,997,045
Ensembl chr 1:166,991,474...166,997,045 		JBrowse link
G LOC685544 hypothetical protein LOC685544 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:215,460,226...215,460,918
Ensembl chr 1:215,460,226...215,460,918 		JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:166,985,468...166,989,681
Ensembl chr 1:166,986,013...166,988,062 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:216,985,710...217,013,743
Ensembl chr 1:216,985,714...217,013,702 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:167,044,544...167,091,453
Ensembl chr 1:167,051,209...167,091,453 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:167,095,916...167,165,257
Ensembl chr 1:167,095,962...167,165,265 		JBrowse link
congenital intrinsic factor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Intrinsic factor deficiency
ClinVar Annotator: match by OMIM:261000
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)		 OMIM
ClinVar		 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 RGD:11049582 NCBI chr 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404 		JBrowse link
familial isolated deficiency of vitamin E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E
ClinVar Annotator: match by term: Ataxia with vitamin E deficiency
ClinVar Annotator: match by term: Ataxia, Friedreich-like, with isolated vitamin E deficiency
ClinVar Annotator: match by OMIM:277460
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:12039660 PMID:12112220 PMID:12470185 PMID:12899840 PMID:12907280 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: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 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452 		JBrowse link
glutamate formiminotransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
ClinVar Annotator: match by OMIM:229100		 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 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466 		JBrowse link
hereditary folate malabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Hereditary Folate Malabsorption
ClinVar Annotator: match by term: Congenital defect of folate absorption		 ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:20686069 PMID:25741868 NCBI chr10:65,742,343...65,766,050
Ensembl chr10:65,742,343...65,766,050 		JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Folate Malabsorption
ClinVar Annotator: match by OMIM:229050		 OMIM
ClinVar
CTD		 PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 PMID:18559978 PMID:19176287 PMID:20686069 PMID:20795774 PMID:20805364 PMID:21333572 PMID:21346251 PMID:25741868 PMID:28492532 NCBI chr10:65,728,508...65,741,708
Ensembl chr10:65,733,991...65,740,828 		JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24156255 PMID:28492532 PMID:30691194 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896 		JBrowse link
G 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 NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564 		JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO 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:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24156255 PMID:25741868 PMID:28492532 PMID:30691194 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896 		JBrowse link
G 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 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404 		JBrowse link
G 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: Megaloblastic anemia 1, Finnish type
ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1		 ClinVar
OMIM		 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:26040326 PMID:27197912 PMID:28492532 PMID:31497480 PMID:31613795 PMID:33532864, PMID:10080186 RGD:61796 NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of ClinVar PMID:28492532 NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564 		JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO DNA:mutation:splice site:
ClinVar Annotator: match by term: IMERSLUND-GRASBECK SYNDROME 2
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE		 ClinVar
OMIM		 PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:22078000 PMID:24156255 PMID:26040326, PMID:17114957 RGD:11071839 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896 		JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:25741868 NCBI chr 6:47,737,814...47,812,219
Ensembl chr 6:47,774,060...47,848,075 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 PMID:27403441 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type
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 acidemia with homocystinuria
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by OMIM:277400		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11261516 PMID:11320193 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:23580368 PMID:23757202 PMID:23825108 PMID:23837176 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:26270766 PMID:26283149 PMID:26287336 PMID:26412180 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:31279840 PMID:31470807 PMID:32164588 PMID:32943488 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914 		JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar NCBI chr 3:35,783,511...35,801,474
Ensembl chr 3:35,783,623...35,801,614 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC ClinVar
OMIM		 PMID:29396438 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990 		JBrowse link
pernicious anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO RGD PMID:4434116, PMID:167441 RGD:11049584, RGD:11049587 NCBI chr 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404 		JBrowse link
pyridoxamine 5'-phosphate oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpo pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures
ClinVar Annotator: match by term: Pyridoxal 5'-phosphate-dependent epilepsy
ClinVar Annotator: match by OMIM:610090		 OMIM
ClinVar		 PMID:12200739 PMID:15772097 PMID:18024216 PMID:18485777 PMID:20370816 PMID:21292558 PMID:22858719 PMID:23419474 PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25256445 PMID:25741868 PMID:25762494 PMID:26467025 PMID:27014579 PMID:27781031 PMID:28349276 PMID:28492532 PMID:28985901 NCBI chr10:84,874,926...84,881,190
Ensembl chr10:84,874,927...84,881,190 		JBrowse link
Subacute Combined Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule treatment IMP
IDA		 RGD PMID:16716410, PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704 		JBrowse link
G Cd40lg CD40 ligand treatment IEP
IDA		 protein:increased expression:cerebrospinal fluid RGD PMID:16716410, PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562 		JBrowse link
transcobalamin II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcn2 transcobalamin 2 ISO ClinVar Annotator: match by term: Transcobalamin II deficiency
ClinVar Annotator: match by term: TCN2 DEFICIENCY
ClinVar Annotator: match by OMIM:275350		 OMIM
ClinVar		 PMID:7849710 PMID:7980584 PMID:10518276 PMID:12091374 PMID:12194912 PMID:12707225 PMID:14632784 PMID:17220211 PMID:19373259 PMID:20352340 PMID:22188304 PMID:24033266 PMID:25741868 PMID:27155006 PMID:28492532 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266 		JBrowse link
vitamin B12 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922874 NCBI chr 6:108,315,026...108,329,550
Ensembl chr 6:108,315,035...108,329,464 		JBrowse link
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Cobalamin deficiency ClinVar PMID:25741868 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896 		JBrowse link
G Calr calreticulin IEP protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666 		JBrowse link
G Cbs cystathionine beta synthase IEP protein:decreased expression:liver (rat) RGD PMID:2732804 RGD:40903037 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751 		JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:16716410 RGD:2313422 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562 		JBrowse link
G Cfl1 cofilin 1 IEP protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337 		JBrowse link
G 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 NCBI chr 1:101,631,633...101,651,668
Ensembl chr 1:101,631,635...101,651,668 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase IEP protein:decreased expression,decreased activity:liver: RGD PMID:14646334 RGD:8694080 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:22568797 RGD:11553830 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        inherited metabolic disorder 2607
          vitamin metabolic disorder 37
            cerebral folate receptor alpha deficiency 10
            familial isolated deficiency of vitamin E 3
            glutamate formiminotransferase deficiency 2
            hereditary folate malabsorption 2
            pyridoxamine 5'-phosphate oxidase deficiency 1
            vitamin B12 deficiency + 19
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          inherited metabolic disorder 2607
            vitamin metabolic disorder 37
              cerebral folate receptor alpha deficiency 10
              familial isolated deficiency of vitamin E 3
              glutamate formiminotransferase deficiency 2
              hereditary folate malabsorption 2
              pyridoxamine 5'-phosphate oxidase deficiency 1
              vitamin B12 deficiency + 19
paths to the root