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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 B Deficiency
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Accession:DOID:9002785 term browser browse the term
Definition:A condition due to deficiency in any member of the VITAMIN B COMPLEX. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.
Synonyms:exact_synonym: Vitamin B Deficiencies
 primary_id: MESH:D014804


show annotations for term's descendants           Sort by:
Vitamin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate aminotransferase ISO RGD PMID:12544342 RGD:1599455 NCBI chr2B:128,125,289...128,137,091
Ensembl chr2B:246,928,784...246,939,837 		JBrowse link
choline deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT1 DNA methyltransferase 1 ISO DNA:hypermethylation:liver: RGD PMID:17724018 RGD:9588267 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972 		JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr21:30,503,194...30,520,237
Ensembl chr21:43,798,778...43,814,283 		JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO DNA:hypermethylation:liver: RGD PMID:17724018 RGD:9588267 NCBI chr18:47,534,356...47,609,481 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: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency OMIM
ClinVar		 PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 More... NCBI chr11:55,052,839...55,069,113
Ensembl chr11:58,500,878...58,517,094 		JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTH cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency OMIM
ClinVar		 PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666 		JBrowse link
folic acid deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHFR dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310277 NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177 		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: Congenital defect of folate absorption ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 More... NCBI chr17:28,370,206...28,403,440
Ensembl chr17:28,878,498...28,905,363 		JBrowse link
G SLC46A1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: Hereditary Folate Malabsorption OMIM
ClinVar		 PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr17:28,367,674...28,379,618
Ensembl chr17:28,870,678...28,877,632 		JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,534,697...28,619,590
Ensembl chr21:41,839,115...41,933,050 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:31,374,841...31,532,721
Ensembl chr21:44,715,931...44,815,748 		JBrowse link
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,120,899...30,243,438
Ensembl chr21:43,479,513...43,540,453 		JBrowse link
G AIRE autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,543,018...30,556,225
Ensembl chr21:43,837,340...43,848,974 		JBrowse link
G C22H21orf58 chromosome 22 C21orf58 homolog ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:32,641,582...32,665,117
Ensembl chr21:45,892,145...45,914,445 		JBrowse link
G C2CD2 C2 calcium dependent domain containing 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,208,474...28,277,366
Ensembl chr21:41,532,070...41,600,084 		JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive OMIM
ClinVar		 PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,585,802...30,595,981
Ensembl chr21:43,881,219...43,889,891 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:31,720,358...31,834,470 JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895 		JBrowse link
G CRYAA crystallin alpha A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:29,414,308...29,480,655
Ensembl chr21:42,782,991...42,786,794 		JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,030,359...30,032,899 JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,503,194...30,520,237
Ensembl chr21:43,798,778...43,814,283 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400 		JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,391,586...30,403,698
Ensembl chr21:43,687,461...43,699,536 		JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:29,787,768...29,916,089
Ensembl chr21:43,088,012...43,214,760 		JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,474,655...30,499,302 JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963 		JBrowse link
G LOC100988625 keratin-associated protein 10-11 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,940,722...30,942,340
Ensembl chr21:44,235,427...44,236,323 		JBrowse link
G LOC100989875 keratin-associated protein 10-7 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,895,205...30,896,781 JBrowse link
G LOC100990200 keratin-associated protein 10-9 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,906,737...30,922,668
Ensembl chr21:44,215,942...44,216,821 		JBrowse link
G LOC100990544 keratin-associated protein 12-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,960,899...30,961,631 JBrowse link
G LOC100990879 keratin-associated protein 12-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,973,102...30,973,742
Ensembl chr21:44,267,403...44,267,753 		JBrowse link
G LOC100991542 keratin-associated protein 12-3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,952,706...30,953,103
Ensembl chr21:44,247,114...44,247,404 		JBrowse link
G LOC103787000 keratin-associated protein 10-3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,995,608...30,996,315 JBrowse link
G LOC112438088 keratin-associated protein 10-12 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,988,028...30,989,931 JBrowse link
G LOC117977362 keratin-associated protein 10-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,842,558...30,844,819 JBrowse link
G LOC117977363 keratin-associated protein 10-10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,932,073...30,933,125 JBrowse link
G LOC134729714 keratin-associated protein 12-4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
G LRRC3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,747,366...30,755,362
Ensembl chr21:44,047,140...44,047,913 		JBrowse link
G LSS lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:32,535,564...32,571,379
Ensembl chr21:45,787,252...45,822,181 		JBrowse link
G MCM3AP minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:32,577,539...32,629,060
Ensembl chr21:45,828,554...45,878,100 		JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr 1:44,802,724...44,811,893
Ensembl chr 1:46,160,364...46,171,662 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 More... NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria ClinVar PMID:10484769 PMID:15714522 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322 		JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:29,205,714...29,222,057
Ensembl chr21:42,516,295...42,531,750 		JBrowse link
G PCBP3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:31,972,644...32,282,794
Ensembl chr21:45,450,722...45,545,909 		JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990 		JBrowse link
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681 		JBrowse link
G PFKL phosphofructokinase, liver type ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,557,576...30,584,231
Ensembl chr21:43,857,052...43,878,380 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309 		JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:29,282,883...29,341,998
Ensembl chr21:42,622,065...42,647,329 		JBrowse link
G POFUT2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:31,572,645...31,594,027
Ensembl chr21:44,855,437...44,876,862 		JBrowse link
G PRDM15 PR/SET domain 15 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,122,173...28,202,837
Ensembl chr21:41,447,858...41,526,888 		JBrowse link
G PTTG1IP PTTG1 interacting protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:31,143,600...31,169,231
Ensembl chr21:44,438,136...44,459,586 		JBrowse link
G PWP2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,364,398...30,389,202
Ensembl chr21:43,660,425...43,685,044 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,062,975...28,091,323
Ensembl chr21:41,389,654...41,417,472 		JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,045,143...30,061,243
Ensembl chr21:43,343,786...43,358,401 		JBrowse link
G RRP1B ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:29,916,109...29,952,749
Ensembl chr21:43,217,516...43,251,192 		JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,779,994...28,804,130
Ensembl chr21:42,098,212...42,121,610 		JBrowse link
G SIK1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:29,675,040...29,689,408
Ensembl chr21:42,975,920...42,987,948 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752 		JBrowse link
G SLC37A1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,821,106...28,891,158
Ensembl chr21:42,138,959...42,208,322 		JBrowse link
G SLX9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:31,235,306...31,271,814 JBrowse link
G SPATC1L spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:32,506,630...32,528,978
Ensembl chr21:45,759,213...45,780,611 		JBrowse link
G SUMO3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:31,098,812...31,112,286 JBrowse link
G TFF1 trefoil factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270 		JBrowse link
G TFF2 trefoil factor 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,653,077...28,657,709
Ensembl chr21:41,973,111...41,977,227 		JBrowse link
G TFF3 trefoil factor 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,627,191...28,631,341
Ensembl chr21:41,948,696...41,952,268 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,679,488...28,703,313
Ensembl chr21:41,997,642...42,022,740 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,269,085...30,363,396
Ensembl chr21:43,581,617...43,656,740 		JBrowse link
G TRPM2 transient receptor potential cation channel subfamily M member 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,606,825...30,737,313
Ensembl chr21:43,903,811...44,035,298 		JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:30,791,051...31,005,330
Ensembl chr21:44,087,591...44,299,041 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:29,399,601...29,414,156
Ensembl chr21:42,707,738...42,719,086 		JBrowse link
G UBASH3A ubiquitin associated and SH3 domain containing A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,711,107...28,755,405
Ensembl chr21:42,029,709...42,073,746 		JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:31,062,516...31,095,044
Ensembl chr21:44,355,235...44,388,373 		JBrowse link
G UMODL1 uromodulin like 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,394,457...28,462,082
Ensembl chr21:41,717,761...41,783,172 		JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336 		JBrowse link
G YBEY ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:32,628,599...32,638,914
Ensembl chr21:45,879,824...45,888,717 		JBrowse link
G ZBTB21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:28,310,177...28,333,713
Ensembl chr21:41,633,208...41,656,714 		JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 More... NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932 		JBrowse link
homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE ClinVar
OMIM		 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322 		JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044 		JBrowse link
G AHCY adenosylhomocysteinase ISO RGD PMID:12208805 RGD:1598896 NCBI chr20:30,603,701...30,626,835
Ensembl chr20:31,738,007...31,760,803 		JBrowse link
G APOE apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303 		JBrowse link
G BCHE butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481 		JBrowse link
G CASP1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
Ensembl chr11:103,448,497...103,458,149 		JBrowse link
G CBS cystathionine beta-synthase susceptibility ISO associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
ClinVar Annotator: match by term: Hyperhomocysteinemia		 RGD
ClinVar		 PMID:7762555 PMID:10704624 PMID:12686134 PMID:16205833 PMID:16479318 More... RGD:40903036 NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		JBrowse link
G CTH cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 PMID:25741868 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666 		JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 4:50,192,665...50,195,642
Ensembl chr 4:56,024,848...56,027,989 		JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A ISO protein:decreased expression:heart (rat) RGD PMID:19906449 RGD:401959215 NCBI chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909 		JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497 		JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr13:94,263,202...94,289,612
Ensembl chr13:113,332,124...113,358,660 		JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485 		JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157 		JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chr  X:144,316,192...144,505,773
Ensembl chr  X:154,156,873...154,341,317 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674 		JBrowse link
G GNMT glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 6:42,550,631...42,554,385
Ensembl chr 6:43,846,560...43,849,679 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 5:148,879,996...149,206,914
Ensembl chr 5:154,879,080...155,204,660 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605 		JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G LOC100976904 growth-regulated alpha protein ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment ISO associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutations, nonsense mutations:CDS:multiple (human)		 RGD
CTD		 PMID:10459572 PMID:10679944 PMID:12471611 PMID:15226090 PMID:16317120 More... RGD:10449400 RGD:1601421 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322 		JBrowse link
G NGF nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NPPB natriuretic peptide B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995 		JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493 		JBrowse link
G PYCARD PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr16:23,764,386...23,765,732
Ensembl chr16:31,571,363...31,573,828 		JBrowse link
G SLC46A1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr17:28,367,674...28,379,618
Ensembl chr17:28,870,678...28,877,632 		JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		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:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr14:83,541,891...83,550,346
Ensembl chr14:103,356,773...103,365,352 		JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226 		JBrowse link
G 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 More... NCBI chr14:83,551,870...83,679,888
Ensembl chr14:103,367,060...103,451,989 		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 More... NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:17,911,158...17,940,075
Ensembl chr10:18,183,125...18,209,361 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:18,270,652...18,362,558
Ensembl chr10:18,541,859...18,698,851 		JBrowse link
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:17,632,154...17,771,252
Ensembl chr10:17,909,556...18,041,946 		JBrowse link
G STAM signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:17,962,759...18,035,654
Ensembl chr10:18,232,548...18,305,197 		JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr14:83,392,689...83,530,974
Ensembl chr14:103,263,440...103,340,670 		JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:17,460,091...17,518,855
Ensembl chr10:17,738,374...17,791,345 		JBrowse link
G VIM vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642 		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 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 More... NCBI chr14:83,541,891...83,550,346
Ensembl chr14:103,356,773...103,365,352 		JBrowse link
G CBLIF cobalamin binding intrinsic factor ISO protein:increased excretion:urine:
DNA:polymorphisms, missense mutations, splice sites:exon,intron:		 RGD PMID:10435666 PMID:15738392 RGD:11049583 RGD:11049586 NCBI chr11:55,052,839...55,069,113
Ensembl chr11:58,500,878...58,517,094 		JBrowse link
G 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 More... NCBI chr14:83,551,870...83,679,888
Ensembl chr14:103,367,060...103,451,989 		JBrowse link
G CUBN cubilin 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 OMIM
ClinVar		 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129 		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 ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type OMIM
ClinVar		 PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr14:83,541,891...83,550,346
Ensembl chr14:103,356,773...103,365,352 		JBrowse link
G 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 More... NCBI chr14:83,551,870...83,679,888
Ensembl chr14:103,367,060...103,451,989 		JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H1orf167 chromosome 1 C1orf167 homolog ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 1:10,524,980...10,551,759
Ensembl chr 1:11,741,083...11,769,155 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency ClinVar
OMIM		 PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPT centromere protein T ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr16:48,169,892...48,177,559
Ensembl chr16:67,557,661...67,564,735 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 OMIM
ClinVar		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,484,008...143,489,904 JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,490,103...143,499,487
Ensembl chr  X:153,376,847...153,386,214 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,711,495...143,736,128 JBrowse link
G THAP11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr16:48,182,825...48,185,866
Ensembl chr16:67,571,277...67,572,206 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,736,589...143,772,277 JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,527,152...143,533,708
Ensembl chr  X:153,419,802...153,420,587 		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 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 More... NCBI chr14:54,833,388...54,850,482
Ensembl chr14:73,684,109...73,701,344 		JBrowse link
G DCDC2C doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr2A:3,720,400...3,807,658
Ensembl chr2A:3,638,431...3,778,383 		JBrowse link
G 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 More... NCBI chr  X:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 More... NCBI chr 6:67,515,861...67,638,039
Ensembl chr 6:70,814,770...70,937,116 		JBrowse link
G MMACHC metabolism of cobalamin associated C ISO 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
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 1:44,802,724...44,811,893
Ensembl chr 1:46,160,364...46,171,662 		JBrowse link
G 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 More... NCBI chr2B:10,278,656...10,298,700
Ensembl chr2B:153,924,371...153,942,537 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO 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 and homocystinuria type cblC OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018 		JBrowse link
G THAP11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chr16:48,182,825...48,185,866
Ensembl chr16:67,571,277...67,572,206 		JBrowse link
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMADHC metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 OMIM
ClinVar		 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr2B:10,278,656...10,298,700
Ensembl chr2B:153,924,371...153,942,537 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166 		JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL19A1 collagen type XIX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 6:67,706,969...68,049,323
Ensembl chr 6:71,006,284...71,340,612 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 6:68,051,446...68,138,715
Ensembl chr 6:71,349,471...71,436,370 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr 6:67,515,861...67,638,039
Ensembl chr 6:70,814,770...70,937,116 		JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar
OMIM		 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946 		JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type 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 ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr14:54,833,388...54,850,482
Ensembl chr14:73,684,109...73,701,344 		JBrowse link
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type ClinVar PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		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:167441 PMID:4434116 RGD:11049584 RGD:11049587 NCBI chr11:55,052,839...55,069,113
Ensembl chr11:58,500,878...58,517,094 		JBrowse link
pyridoxine deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO RGD PMID:11575573 RGD:1598897 NCBI chr20:30,603,701...30,626,835
Ensembl chr20:31,738,007...31,760,803 		JBrowse link
riboflavin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC52A1 solute carrier family 52 member 1 ISO ClinVar Annotator: match by term: Ariboflavinosis | ClinVar Annotator: match by term: Maternal riboflavin deficiency | ClinVar Annotator: match by term: Riboflavin deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17689999 PMID:21089064 PMID:23506902 More... NCBI chr17:5,081,139...5,090,445
Ensembl chr17:5,070,372...5,073,211 		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 ISO RGD PMID:16716410 RGD:2313422 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994 		JBrowse link
G CD40LG CD40 ligand treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:16716410 RGD:2313422 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
thiamine deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419 		JBrowse link
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC19A2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia OMIM
ClinVar		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chr 1:144,946,248...144,968,736
Ensembl chr 1:148,668,687...148,690,713 		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 OMIM
ClinVar		 PMID:2430590 PMID:7849710 PMID:7980584 PMID:9536098 PMID:10518276 More... NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494 		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 chr14:54,833,388...54,850,482
Ensembl chr14:73,684,109...73,701,344 		JBrowse link
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Vitamin B12 deficiency ClinVar PMID:25741868 NCBI chr14:83,541,891...83,550,346
Ensembl chr14:103,356,773...103,365,352 		JBrowse link
G CALR calreticulin ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416 		JBrowse link
G CBS cystathionine beta-synthase ISO protein:decreased expression:liver (rat) RGD PMID:2732804 RGD:40903037 NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:16716410 RGD:2313422 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
G CFL1 cofilin 1 ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO RGD PMID:11115425 RGD:401827848 NCBI chr 5:146,447,939...146,456,476 JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO protein:decreased expression,decreased activity:liver: RGD PMID:14646334 RGD:8694080 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946 		JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:22568797 RGD:11553830 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493 		JBrowse link
Wernicke encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOS Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO RGD PMID:8229066 RGD:405100718 NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron RGD PMID:18481165 RGD:2300278 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G TKT transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr 3:53,168,426...53,199,003
Ensembl chr 3:54,389,549...54,420,704 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      nutrition disease 882
        Malnutrition 330
          nutritional deficiency disease 314
            Avitaminosis 208
              Vitamin B Deficiency 158
                choline deficiency disease 3
                folic acid deficiency anemia + 4
                hyperhomocysteinemia + 128
                pellagra + 0
                pyridoxine deficiency anemia 1
                riboflavin deficiency 1
                thiamine deficiency disease + 5
                vitamin B12 deficiency + 29
Path 2
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        acquired metabolic disease 2245
          nutrition disease 882
            Malnutrition 330
              nutritional deficiency disease 314
                Avitaminosis 208
                  Vitamin B Deficiency 158
                    choline deficiency disease 3
                    folic acid deficiency anemia + 4
                    hyperhomocysteinemia + 128
                    pellagra + 0
                    pyridoxine deficiency anemia 1
                    riboflavin deficiency 1
                    thiamine deficiency disease + 5
                    vitamin B12 deficiency + 29
paths to the root