Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Avitaminosis
go back to main search page
Accession:DOID:9004644 term browser browse the term
Definition:A condition due to a deficiency of one or more essential vitamins. (Dorland, 27th ed)
Synonyms:exact_synonym: Avitaminoses;   Vitamin Deficiencies;   Vitamin Deficiency
 primary_id: MESH:D001361;   RDO:0004924
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Ascorbic Acid Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 IEP protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar
OMIM
RGD
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISS
ISO
OMIM:241520 | OMIM:613312
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
MouseDO
ClinVar
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
BILE ACID CONJUGATION DEFECT 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Bile acid conjugation defect 1 OMIM
ClinVar
PMID:12704386 PMID:23415802 PMID:25741868 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
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 IEP
IDA
mRNA:increased expression:liver:
DNA:hypermethylation:liver:
RGD PMID:17724018 PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dnmt3l DNA methyltransferase 3 like IEP mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr20:10,614,933...10,629,516
Ensembl chr20:10,614,934...10,629,516
JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 IEP
IDA
mRNA:increased expression:liver:
DNA:hypermethylation:liver:
RGD PMID:17724018 PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr18:64,174,002...64,240,795
Ensembl chr18:64,174,002...64,240,794
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
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
OMIM
ClinVar
RGD
PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 More... RGD:11049582 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
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 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets
CTD
ClinVar
PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 More... NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
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 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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 chr10:63,369,456...63,393,016
Ensembl chr10:63,369,456...63,392,822
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
OMIM
ClinVar
CTD
PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848
JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS
OMIM:241530
DNA:deletions, snps:multiple (human)
MouseDO
RGD
PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS | ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria OMIM
ClinVar
PMID:2983203 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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 chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
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 chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
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 chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358
JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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 chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739
JBrowse link
G Cbs cystathionine beta synthase ISO DNA:point mutation:exon:G307S
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 due to CBS deficiency | ClinVar Annotator: match by term: Homocystinuria due to cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
ClinVar
OMIM
RGD
PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... RGD:1600622 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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 chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
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 chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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 chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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 chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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 chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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 chr20:10,614,933...10,629,516
Ensembl chr20:10,614,934...10,629,516
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885
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 chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703
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 chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,904,257...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,910,203...10,911,281 JBrowse link
G LOC100365646 hypothetical protein LOC100365646 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,799,355...10,800,354
Ensembl chr20:10,799,355...10,800,215
JBrowse link
G LOC690460 similar to keratin associated protein 10-7 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,888,588...10,896,525 JBrowse link
G LOC690478 similar to keratin associated protein 10-7 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526
JBrowse link
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 chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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 chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
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 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISS OMIM:236200 | OMIM:236250 MouseDO NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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 chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO DNA:polymorphisms,mutations: :
ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266 PMID:28492532 More... RGD:5508189 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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 chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
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 chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
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 chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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 chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727
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 chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
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 chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207
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 chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316
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 chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640
JBrowse link
G RGD1564149 similar to Protein C21orf58 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017
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 chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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 chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144
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 chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928
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 chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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 chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
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 chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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 chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892
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 chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
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 chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301
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 chr20:11,010,140...11,020,850
Ensembl chr20:11,010,166...11,020,696
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 chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
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 chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
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 chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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 chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
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 chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
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 chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
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 chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
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 chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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 chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224
JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447
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 chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146
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 chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713
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 chr11:37,311,860...37,327,040
Ensembl chr11:37,312,378...37,326,996
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 chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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 ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE OMIM
ClinVar
PMID:1060915 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 More... NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant OMIM
ClinVar
PMID:5453458 PMID:17951468 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101
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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:12208805 RGD:1598896 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
JBrowse link
G Apoe apolipoprotein E treatment IEP RGD PMID:22762542 RGD:6903856 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Bche butyrylcholinesterase IDA Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Cbs cystathionine beta synthase susceptibility IEP
ISO
mRNA:decreased expression, protein:decreased expression
ClinVar Annotator: match by term: Hyperhomocysteinemia
associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 More... RGD:1600624, RGD:40903036 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,270,146...17,289,458
Ensembl chr14:17,270,146...17,289,511
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Ece1 endothelin converting enzyme 1 IMP RGD PMID:19371338 RGD:4892572 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Ednra endothelin receptor type A IEP RGD PMID:19371338 RGD:4892572 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G F10 coagulation factor X treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
JBrowse link
G F12 coagulation factor XII treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
JBrowse link
G F2 coagulation factor II treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F8 coagulation factor VIII IDA RGD PMID:16046705 RGD:1601105 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:missense mutations, nonsense mutations:CDS:multiple (human)
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD
RGD
PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 More... RGD:1601421, RGD:10449400 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21044172 RGD:5144149 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nppb natriuretic peptide B IEP mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848
JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar
RGD
PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... RGD:10044208 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 OMIM
ClinVar
PMID:9536098 PMID:17033621 PMID:17033625 PMID:17576681 PMID:21050253 More... NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
DNA:missense mutation:cds:p.Y901S (human)
ClinVar
OMIM
RGD
PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:6906930, RGD:6906931 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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 chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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 chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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 chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
JBrowse link
G 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
JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,353,761...77,440,381
Ensembl chr17:77,353,805...77,440,353
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 chr17:76,740,755...76,883,766
Ensembl chr17:76,745,224...76,884,299
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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: Megaloblastic anemia 1, Finnish type ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
JBrowse link
G Cubn cubilin ISO DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar
OMIM
RGD
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... RGD:61796 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type
ClinVar
OMIM
RGD
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... RGD:11071839 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
JBrowse link
keratomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25736335 PMID:28492532 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
JBrowse link
G LOC102551309 uncharacterized LOC102551309 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Mthfr methylenetetrahydrofolate reductase 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 OMIM
ClinVar
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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:23141461 PMID:25234635 PMID:28572511 PMID:30651581 PMID:33845046 NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
JBrowse link
G 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
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:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532 NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive OMIM
ClinVar
PMID:25741868 PMID:29396438 NCBI chr 5:130,147,276...130,162,850
Ensembl chr 5:130,147,204...130,162,856
JBrowse link
G 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
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 with homocystinuria cblD type | 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 chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771
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 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106
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 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16199547 PMID:19136951 PMID:21303734 PMID:22922874 PMID:23776111 More... NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
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 ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG OMIM
ClinVar
PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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 chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
osteomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183
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 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
JBrowse link
pyridoxine deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase IDA RGD PMID:11575573 RGD:1598897 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
DNA:deletion, snps, missense mutations:multiple (human)
OMIM
ClinVar
RGD
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... RGD:11560486 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO RGD PMID:12671052 RGD:734698 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16494812 PMID:9486994 PMID:11416220 RGD:1600874, RGD:734871 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISS OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
JBrowse link
G Vdr vitamin D receptor ISO VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:1338926 PMID:17451081 PMID:22466564 PMID:2849209 RGD:1624354 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
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 chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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 myelodysplasia OMIM
ClinVar
PMID:9399900 PMID:10391221 PMID:10391222 PMID:10391223 PMID:10978358 More... NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172
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:7849710 PMID:7980584 PMID:9536098 PMID:10518276 PMID:12091374 More... NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
JBrowse link
Vitamin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16120438 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 treatment ISO
IEP
RGD PMID:25451926 PMID:22554462 RGD:13782197, RGD:13782256 NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204
JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 treatment IEP RGD PMID:11724755 RGD:13782260 NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066
JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 treatment IEP RGD PMID:11724755 RGD:13782260 NCBI chr 5:128,922,355...128,934,188
Ensembl chr 5:128,923,615...128,934,165
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 IEP mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Tgm1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
Vitamin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase IEP RGD PMID:12544342 RGD:1599455 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
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 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
JBrowse link
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Cobalamin deficiency ClinVar PMID:25741868 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:16716410 RGD:2313422 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G 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
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 More... NCBI chr 1:96,119,549...96,139,567
Ensembl chr 1:96,119,371...96,140,360
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Vitamin D Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein IDA RGD PMID:3105848 RGD:6483561 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 susceptibility ISO associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A RGD PMID:18476984 RGD:2307310 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chr 1:198,981,559...199,009,806
Ensembl chr 1:198,981,604...199,009,869
JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 IEP RGD PMID:28365874 RGD:124713570 NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
JBrowse link
G Retn resistin IEP mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vdr vitamin D receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human)
CTD
RGD
PMID:9525346 PMID:30683615 RGD:14401752 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
vitamin D-dependent rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
vitamin D-dependent rickets type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 treatment ISO
IMP
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A OMIM
ClinVar
RGD
PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 More... RGD:32716373 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Cyp27b1em1Thka cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka treatment IMP RGD PMID:32231239 RGD:32716373
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:24033266 More... NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
JBrowse link
vitamin D-dependent rickets type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B OMIM
ClinVar
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
JBrowse link
vitamin D-dependent rickets type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A ClinVar PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
JBrowse link
G Vdr vitamin D receptor treatment ISO
IMP
ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction:
OMIM
ClinVar
RGD
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:32716373, RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778, RGD:8158074 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vdrem1Thka vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka treatment IMP RGD PMID:32231239 RGD:32716373
G Vdrem2Thka vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka treatment IMP compared to untreated vdr KO RGD PMID:32231239 RGD:32716373
VITAMIN D-DEPENDENT RICKETS, TYPE 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3 OMIM
ClinVar
PMID:29461981 NCBI chr12:9,207,986...9,230,038
Ensembl chr12:9,015,383...9,285,008
JBrowse link
Vitamin E Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:increased degradation:erythrocyte, membrane (rat) RGD PMID:3458208 RGD:10450477 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
JBrowse link
vitamin K deficiency bleeding term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO RGD PMID:16869104 RGD:6483568 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Ggcx gamma-glutamyl carboxylase no_association ISO RGD PMID:11154138 RGD:11040513 NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
JBrowse link
Wernicke encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron RGD PMID:18481165 RGD:2300278 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Tkt transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698
JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:
OMIM
ClinVar
RGD
PMID:188828 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 More... RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:15086899 More... NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      nutrition disease 1037
        Malnutrition 308
          nutritional deficiency disease 299
            Avitaminosis 195
              Ascorbic Acid Deficiency + 3
              BILE ACID CONJUGATION DEFECT 1 1
              Vitamin A Deficiency + 13
              Vitamin B Deficiency + 140
              Vitamin D Deficiency + 34
              Vitamin E Deficiency + 4
              vitamin K deficiency bleeding 2
Path 2
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        acquired metabolic disease 2138
          nutrition disease 1037
            Malnutrition 308
              nutritional deficiency disease 299
                Avitaminosis 195
                  Ascorbic Acid Deficiency + 3
                  BILE ACID CONJUGATION DEFECT 1 1
                  Vitamin A Deficiency + 13
                  Vitamin B Deficiency + 140
                  Vitamin D Deficiency + 34
                  Vitamin E Deficiency + 4
                  vitamin K deficiency bleeding 2
paths to the root