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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:Avitaminosis
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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 ISO protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
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 OMIM NCBI chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,037,739
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 ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar NCBI chr 8:131,285,238...131,319,398
Ensembl chr 8:131,285,239...131,472,785
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:24033266, PMID:28492532 NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595
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 chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,564...69,029,919
JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr13:207,119,025...207,141,990 JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr 1:103,683,077...103,768,372
Ensembl chr 1:103,683,065...103,752,427
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 OMIM NCBI chr 2:11,655,726...11,674,357
Ensembl chr 2:11,655,767...11,674,302
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 OMIM NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
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:43,779,016...43,809,472
Ensembl chr  X:43,613,756...43,813,140
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, PMID:11468271, PMID:12727977, PMID:18625346, PMID:18775977, PMID:24684036, PMID:25741868, PMID:28492532, PMID:29858904 NCBI chr  X:18,199,396...18,420,985
Ensembl chr  X:18,203,174...18,418,004
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, PMID:28492532 NCBI chr10:48,404,298...48,423,978
Ensembl chr10:48,404,293...48,423,978
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, PMID:2849209, PMID:3024987, PMID:8392085, PMID:8675579, PMID:8862631, PMID:8961271, PMID:9005998, PMID:9360557, PMID:9495519, PMID:10707958, PMID:11564167, PMID:17130574, PMID:17371163, PMID:17970811, PMID:18159135, PMID:18279374, PMID:18593774, PMID:19682379, PMID:20200114, PMID:21168462, PMID:21931507, PMID:22992668, PMID:23180655, PMID:24033266, PMID:24073221, PMID:25741868, PMID:26177022, PMID:26198224, PMID:26590811, PMID:26631034, PMID:26911666, PMID:27164139, PMID:27607899, PMID:27778467, PMID:28492532 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
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 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G TTPA alpha tocopherol transfer protein ISO OMIM NCBI chr 4:70,960,580...70,980,883
Ensembl chr 4:70,961,465...71,021,839
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 2:89,230,660...89,255,830 JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
hereditary folate malabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SARM1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Hereditary Folate Malabsorption
ClinVar Annotator: match by term: Congenital defect of folate absorption
ClinVar PMID:11807405, PMID:17129779, PMID:17446347, PMID:20686069 NCBI chr12:44,654,364...44,676,942
Ensembl chr12:44,655,811...44,676,945
JBrowse link
G SLC46A1 solute carrier family 46 member 1 ISO OMIM NCBI chr12:44,677,499...44,686,277
Ensembl chr12:44,677,502...44,686,250
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 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO DNA:deletions, snps:multiple (human) RGD PMID:16358215, PMID:19570882 RGD:7242924, RGD:7242925 NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
JBrowse link
G SLC34A3 solute carrier family 34 member 3 ISO OMIM
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase ISO OMIM NCBI chr13:206,205,942...206,231,363 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, PMID:19370762, PMID:19700356, PMID:25398587, PMID:25672861, PMID:25689098, PMID:25741868, PMID:26825575, PMID:26990548, PMID:28492532 NCBI chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,654
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO DNA:missense mutations, nonsense mutations:cds:multiple (human) RGD PMID:10679944 RGD:1601421 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
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, PMID:25741868, PMID:25856670, PMID:28492532, PMID:28666289, PMID:32581362 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
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
RGD
ClinVar
CTD
PMID:10484769, PMID:12555939, PMID:15714522, PMID:24033266 RGD:5508189 NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,224...74,270,802
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency ClinVar PMID:25741868 NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,447,357...45,925,113
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, PMID:7635485, PMID:7762555, PMID:8353501, PMID:8528202, PMID:8554066, PMID:8755636, PMID:8803779, PMID:8940271, PMID:8990018, PMID:9156316, PMID:9232191, PMID:9361025, PMID:9587029, PMID:9708897, PMID:9864922, PMID:10215408, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10408774, PMID:10531322, PMID:10807759, PMID:11230183, PMID:11343305, PMID:11359213, PMID:11434706, PMID:12007221, PMID:12124992, PMID:12269827, PMID:12552044, PMID:12686134, PMID:14635102, PMID:14722619, PMID:14722927, PMID:14972327, PMID:15087459, PMID:15146473, PMID:15192637, PMID:15365998, PMID:16245937, PMID:16307898, PMID:16375773, PMID:16479318, PMID:16619244, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19232736, PMID:19819175, PMID:20066033, PMID:20490928, PMID:20506325, PMID:20567906, PMID:21520339, PMID:22069143, PMID:22267502, PMID:22333527, PMID:22612060, PMID:22738154, PMID:23592311, PMID:23974653, PMID:24033266, PMID:24211323, PMID:25044645, PMID:25218699, PMID:25331909, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28488385, PMID:28492532, PMID:28583326, PMID:29650765, PMID:30311386 NCBI chr13:206,205,942...206,231,363 JBrowse link
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation 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 OMIM NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,224...74,270,802
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 OMIM NCBI chr 6:7,008,330...7,054,089
Ensembl chr 6:7,012,613...7,105,271
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 chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AHCY adenosylhomocysteinase ISO RGD PMID:12208805 RGD:1598896 NCBI chr17:37,726,084...37,744,378
Ensembl chr17:37,726,077...37,744,461
JBrowse link
G APOE apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,506...104,384,606
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,291,344...90,396,160
JBrowse link
G BCHE butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr13:104,946,732...105,007,568 JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
JBrowse link
G CBS cystathionine beta-synthase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperhomocysteinemia
mRNA:decreased expression, protein:decreased expression
CTD
ClinVar
RGD
PMID:7762555, PMID:12686134, PMID:16205833, PMID:16479318, PMID:16636197, PMID:17292331, PMID:19028542, PMID:19204075, PMID:21517828, PMID:22267502, PMID:22977242, PMID:25741868, PMID:28492532 RGD:1600624 NCBI chr13:206,205,942...206,231,363 JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CTH cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,328...79,466,106
JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr11:78,521,760...78,538,256
Ensembl chr11:78,521,606...78,538,260
JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,526,767...80,546,096
JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,265,337...125,350,853
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GNMT glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 7:38,038,359...38,041,218
Ensembl chr 7:38,038,358...38,041,218
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr16:69,332,786...69,654,366
Ensembl chr16:69,332,585...69,655,380
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,752,351...33,143,499
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,526...58,927,583
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G LOC100522011 apoptosis-associated speck-like protein containing a CARD ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 3:17,305,921...17,307,521
Ensembl chr 3:17,306,179...17,307,512
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutations, nonsense mutations:cds:multiple (human)
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD
RGD
PMID:10459572, PMID:10679944, PMID:12471611, PMID:15226090, PMID:16317120, PMID:16397167, PMID:16411416, PMID:16575899, PMID:17387702, PMID:18234410, PMID:18551038, PMID:19204075, PMID:19646848 RGD:10449400, RGD:1601421 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899, PMID:17369066 NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,224...74,270,802
JBrowse link
G NGF nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,417...105,307,842
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 6:45,248,325...45,271,892
Ensembl chr 6:45,248,317...45,271,550
JBrowse link
G NPPB natriuretic peptide B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331, PMID:19028542 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G SLC46A1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr12:44,677,499...44,686,277
Ensembl chr12:44,677,502...44,686,250
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,297
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 NCBI chr 8:131,285,238...131,319,398
Ensembl chr 8:131,285,239...131,472,785
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr 3:159,107...200,462
Ensembl chr 3:163,419...200,460
JBrowse link
G FGF23 fibroblast growth factor 23 ISO RGD PMID:14988389 RGD:10044208 NCBI chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,037,739
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr  X:18,199,396...18,420,985
Ensembl chr  X:18,203,174...18,418,004
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, PMID:28492532 NCBI chr10:48,404,298...48,423,978
Ensembl chr10:48,404,293...48,423,978
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, PMID:2849209, PMID:3024987, PMID:8392085, PMID:8675579, PMID:8862631, PMID:8961271, PMID:9005998, PMID:9360557, PMID:9495519, PMID:10707958, PMID:11564167, PMID:17130574, PMID:17371163, PMID:17970811, PMID:18159135, PMID:18279374, PMID:18593774, PMID:19682379, PMID:20200114, PMID:21168462, PMID:21931507, PMID:22992668, PMID:23180655, PMID:24033266, PMID:24073221, PMID:25741868, PMID:26177022, PMID:26198224, PMID:26590811, PMID:26631034, PMID:26911666, PMID:27164139, PMID:27607899, PMID:27778467, PMID:28492532 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
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 OMIM NCBI chr 8:131,285,238...131,319,398
Ensembl chr 8:131,285,239...131,472,785
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 OMIM NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595
JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523, PMID:12590260, PMID:13852753, PMID:15024727, PMID:17114957, PMID:17285242, PMID:18181028, PMID:21750092, PMID:22078000, PMID:22631584, PMID:22929189, PMID:24156255, PMID:28492532
G CUBN cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:10080186, PMID:10887099, PMID:15024727, PMID:15963748, PMID:22277662, PMID:22495309, PMID:22929189, PMID:24033266, PMID:24156255, PMID:25349199, PMID:25525159, PMID:25741868, PMID:27197912, PMID:28492532, PMID:31497480, PMID:31613795 NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,613
JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532
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 Annotator: match by term: Enterocyte cobalamin malabsorption
ClinVar PMID:6741523, PMID:12590260, PMID:13852753, PMID:15024727, PMID:17114957, PMID:17285242, PMID:18181028, PMID:21750092, PMID:22078000, PMID:22631584, PMID:22929189, PMID:24156255, PMID:28492532
G CBLIF cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:
RGD PMID:10435666, PMID:15738392 RGD:11049583, RGD:11049586 NCBI chr 2:11,655,726...11,674,357
Ensembl chr 2:11,655,767...11,674,302
JBrowse link
G CUBN cubilin ISO OMIM NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,613
JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of ClinVar PMID:28492532
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 OMIM
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 chr14:105,037,360...105,044,552
Ensembl chr14:105,036,770...105,044,765
JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTHFR methylenetetrahydrofolate reductase ISO OMIM NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC2C doublecortin domain containing 2C ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:25741868 NCBI chr 3:131,082,277...131,194,726 JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:24011988, PMID:25167861, PMID:25281006, PMID:25741868, PMID:26893841, PMID:27403441 NCBI chr  X:124,673,125...124,694,846 JBrowse link
G MMACHC metabolism of cobalamin associated C ISO OMIM NCBI chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,654
JBrowse link
G PRDX1 peroxiredoxin 1 ISO OMIM NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,520...165,861,442
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 OMIM NCBI chr 7:97,568,193...97,585,693
Ensembl chr 7:97,567,712...97,585,679
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, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545395, PMID:9545406, PMID:9737770, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10677336, PMID:10732818, PMID:10869114, PMID:10930360, PMID:10958762, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11590551, PMID:11742092, PMID:11752418, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, PMID:11938441, PMID:12080391, PMID:12095808, PMID:12154064, PMID:12165282, PMID:12196644, PMID:12221667, PMID:12356947, PMID:12383688, PMID:12384649, PMID:12387655, PMID:12400059, PMID:12406076, PMID:12428084, PMID:12453860, PMID:12529699, PMID:12560871, PMID:12796225, PMID:12915598, PMID:14647408, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15543147, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:15951337, PMID:16013960, PMID:16019535, PMID:16172608, PMID:16244782, PMID:16365871, PMID:16402130, PMID:16432849, PMID:16462575, PMID:16463153, PMID:16470725, PMID:16501586, PMID:16712703, PMID:16800002, PMID:16870553, PMID:17180579, PMID:17284634, PMID:17323057, PMID:17350979, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:22143415, PMID:22838948, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:25007187, PMID:25065700, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25778468, PMID:26014925, PMID:27399166, PMID:28696419, PMID:29683944, PMID:30311386 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
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 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G MEPE matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr 8:131,186,563...131,198,418
Ensembl chr 8:131,186,888...131,198,411
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 chr 2:11,655,726...11,674,357
Ensembl chr 2:11,655,767...11,674,302
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 chr17:37,726,084...37,744,378
Ensembl chr17:37,726,077...37,744,461
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 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
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 chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:30311386 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,756...43,813,140
JBrowse link
G CYP27B1 25-hydroxyvitamin D3 1alpha-hydroxylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Vitamin D-Dependent Rickets
vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
CTD
ClinVar
RGD
PMID:9486994, PMID:11416220, PMID:16494812 RGD:1600874, RGD:734871 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,050,114...23,058,470
JBrowse link
G CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:30311386 NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,367
JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:131,285,238...131,319,398
Ensembl chr 8:131,285,239...131,472,785
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,308...29,775,371
JBrowse link
G VDR vitamin D receptor ISO VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
ClinVar Annotator: match by term: Vitamin D-Dependent Rickets
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1338926, PMID:2849209, PMID:17451081, PMID:22466564, PMID:28492532 RGD:1624354 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
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 chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:16716410 RGD:2313422 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
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 7:115,604,282...115,616,915
Ensembl chr 7:115,604,285...115,614,633
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 OMIM NCBI chr 4:81,510,221...81,535,099
Ensembl chr 4:81,510,079...81,536,466
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 OMIM NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,496,323...47,515,965
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 chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 treatment ISO RGD PMID:22554462, PMID:25451926 RGD:13782197, RGD:13782256 NCBI chr14:104,561,394...104,567,099
Ensembl chr14:104,563,195...104,567,097
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr 4:452,890...463,665
Ensembl chr 4:452,861...466,883
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,159...44,787,307
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr 7:47,481,539...47,529,199
Ensembl chr 7:47,479,629...47,529,227
JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr 8:74,412,226...74,428,713
Ensembl chr 8:74,409,459...74,419,682
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,159...14,241,197
JBrowse link
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,036,770...105,044,765
JBrowse link
G TGM1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,021,761...75,047,300
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
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 ISO RGD PMID:12544342 RGD:1599455 NCBI chr15:139,720,648...139,730,737
Ensembl chr15:139,720,612...139,730,736
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 7:97,568,193...97,585,693
Ensembl chr 7:97,567,712...97,585,679
JBrowse link
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Cobalamin deficiency ClinVar PMID:25741868
G CALR calreticulin ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,225...66,102,340
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:16716410 RGD:2313422 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CFL1 cofilin 1 ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035
JBrowse link
G FUT2 fucosyltransferase 2 ISO OMIM NCBI chr 6:54,034,666...54,044,891
Ensembl chr 6:54,034,684...54,047,224
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO protein:decreased expression,decreased activity:liver: RGD PMID:14646334 RGD:8694080 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:22568797 RGD:11553830 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
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 ISO RGD PMID:3105848 RGD:6483561 NCBI chr 4:93,807,703...93,808,806
Ensembl chr 4:93,807,706...93,836,791
JBrowse link
G CYP27B1 25-hydroxyvitamin D3 1alpha-hydroxylase susceptibility ISO associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A RGD PMID:18476984 RGD:2307310 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,050,114...23,058,470
JBrowse link
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,301...75,716,694
JBrowse link
G NADSYN1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,793...2,372,355
JBrowse link
G RETN resistin ISO mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G VDR vitamin D receptor susceptibility ISO associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9525346, PMID:30683615 RGD:14401752 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
Vitamin D Hydroxylation-Deficient Rickets, Type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP27B1 25-hydroxyvitamin D3 1alpha-hydroxylase ISO
IEA
Vitamin D-deficiency rickets, type I OMIM
OMIA
NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,050,114...23,058,470
JBrowse link
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, PMID:25942481, PMID:28548312 NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,367
JBrowse link
Vitamin D Hydroxylation-Deficient 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 OMIM NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,367
JBrowse link
Vitamin D-Dependent Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP27B1 25-hydroxyvitamin D3 1alpha-hydroxylase ISO ClinVar Annotator: match by term: Vitamin D-Dependent Rickets ClinVar NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,050,114...23,058,470
JBrowse link
G VDR vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-Dependent Rickets ClinVar PMID:28492532 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
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, PMID:28492532 NCBI chr10:48,404,298...48,423,978
Ensembl chr10:48,404,293...48,423,978
JBrowse link
G VDR vitamin D receptor treatment ISO OMIM
RGD
PMID:24693968 RGD:13432060 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
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 ISO protein:increased degradation:erythrocyte, membrane (rat) RGD PMID:3458208 RGD:10450477 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
G TTPA alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 4:70,960,580...70,980,883
Ensembl chr 4:70,961,465...71,021,839
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 4:93,807,703...93,808,806
Ensembl chr 4:93,807,706...93,836,791
JBrowse link
G GGCX gamma-glutamyl carboxylase no_association ISO RGD PMID:11154138 RGD:11040513 NCBI chr 3:59,202,363...59,219,807
Ensembl chr 3:59,202,377...59,221,132
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 ISO mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron RGD PMID:18481165 RGD:2300278 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G TKT transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr13:35,348,921...35,377,518
Ensembl chr13:35,348,912...35,377,580
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 4:93,807,703...93,808,806
Ensembl chr 4:93,807,706...93,836,791
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 chr 3:159,107...200,462
Ensembl chr 3:163,419...200,460
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked ISO OMIM NCBI chr  X:18,199,396...18,420,985
Ensembl chr  X:18,203,174...18,418,004
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 OMIM NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,756...43,813,140
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    Nutritional and Metabolic Diseases 3655
      nutrition disease 711
        Malnutrition 191
          nutritional deficiency disease 183
            Avitaminosis 103
              Ascorbic Acid Deficiency + 1
              Vitamin A Deficiency + 11
              Vitamin B Deficiency + 65
              Vitamin D Deficiency + 22
              Vitamin E Deficiency + 4
              vitamin K deficiency bleeding 2
Path 2
Term Annotations click to browse term
  disease 12641
    Nutritional and Metabolic Diseases 3655
      disease of metabolism 3655
        acquired metabolic disease 2128
          nutrition disease 711
            Malnutrition 191
              nutritional deficiency disease 183
                Avitaminosis 103
                  Ascorbic Acid Deficiency + 1
                  Vitamin A Deficiency + 11
                  Vitamin B Deficiency + 65
                  Vitamin D Deficiency + 22
                  Vitamin E Deficiency + 4
                  vitamin K deficiency bleeding 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.