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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 chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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 chr27:40,501,655...40,511,785
Ensembl chr27:40,501,731...40,509,766
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 chr32:11,022,900...11,053,900
Ensembl chr32:11,045,508...11,053,252
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:24033266, PMID:28492532 NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718
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 mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr31:38,099,100...38,111,432 JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr 1:21,232,260...21,283,687
Ensembl chr 1:21,235,967...21,283,346
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 chr21:50,334,769...50,350,598
Ensembl chr21:50,334,769...50,350,598
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 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
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:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812
JBrowse link
G LOC478000 phytanoyl-CoA hydroxylase-like 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 chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497
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:17,830,714...18,038,755
Ensembl chr  X:17,829,158...18,035,775
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 chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G TTPA alpha tocopherol transfer protein ISO OMIM NCBI chr29:13,177,690...13,198,910
Ensembl chr29:13,182,308...13,192,553
JBrowse link
folic acid deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
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 chr 9:42,620,878...42,639,662
Ensembl chr 9:42,622,538...42,639,590
JBrowse link
G SLC46A1 solute carrier family 46 member 1 ISO OMIM NCBI chr 9:42,638,670...42,650,241
Ensembl chr 9:42,643,328...42,650,188
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 chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
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 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
JBrowse link
G SLC34A3 solute carrier family 34 member 3 ISO OMIM NCBI chr 9:48,437,893...48,444,103
Ensembl chr 9:48,438,007...48,440,736
JBrowse link
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 chr31:37,230,900...37,247,170 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 chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO DNA:missense mutations, nonsense mutations:cds:multiple (human) RGD PMID:10679944 RGD:1601421 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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 chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria
DNA:polymorphisms,mutations: :
CTD
ClinVar
RGD
PMID:10484769, PMID:12555939, PMID:15714522, PMID:24033266 RGD:5508189 NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
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 chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141
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 chr31:37,230,900...37,247,170 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 chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
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 5:70,598,743...70,637,273
Ensembl chr 5:70,599,284...70,637,017
JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G AHCY adenosylhomocysteinase ISO RGD PMID:12208805 RGD:1598896 NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767
JBrowse link
G APOE apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167
JBrowse link
G BCHE butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
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 chr31:37,230,900...37,247,170 JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CTH cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114
JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463
JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr22:60,585,563...60,597,027
Ensembl chr22:60,571,822...60,597,024
JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 4:35,950,642...35,968,137
Ensembl chr 4:35,950,695...35,998,025
JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GNMT glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 4:55,801,269...56,103,383
Ensembl chr 4:55,803,296...56,103,669
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G LOC106557449 alveolar macrophage chemotactic factor-like ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr13:62,514,244...62,516,439
Ensembl chr13:62,513,898...62,515,218
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment ISO DNA:missense mutations, nonsense mutations:cds:multiple (human)
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
CTD
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 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899, PMID:17369066 NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
JBrowse link
G NGF nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546
JBrowse link
G NPPB natriuretic peptide B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331, PMID:19028542 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PYCARD PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 6:17,049,352...17,051,348
Ensembl chr 6:17,049,705...17,051,240
JBrowse link
G SLC46A1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr 9:42,638,670...42,650,241
Ensembl chr 9:42,643,328...42,650,188
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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 chr32:11,022,900...11,053,900
Ensembl chr32:11,045,508...11,053,252
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr 6:16,448,603...16,497,064
Ensembl chr 6:16,448,588...16,497,752
JBrowse link
G FGF23 fibroblast growth factor 23 ISO RGD PMID:14988389 RGD:10044208 NCBI chr27:40,501,655...40,511,785
Ensembl chr27:40,501,731...40,509,766
JBrowse link
G LOC478000 phytanoyl-CoA hydroxylase-like 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 chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr  X:17,830,714...18,038,755
Ensembl chr  X:17,829,158...18,035,775
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 chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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 chr32:11,022,900...11,053,900
Ensembl chr32:11,045,508...11,053,252
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 1:251,985...322,081
Ensembl chr 1:252,103...322,718
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 NCBI chr 8:70,800,435...70,807,835 JBrowse link
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 chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839
JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 8:70,739,389...70,794,448
Ensembl chr 8:70,739,417...70,790,645
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 IEA Intestinal cobalamin malabsorption, AMN-related OMIA PMID:1848001, PMID:1941244, PMID:1999430, PMID:11023127, PMID:14576052, PMID:14722725, PMID:15845892, PMID:26483576 NCBI chr 8:70,800,435...70,807,835 JBrowse link
G CBLIF cobalamin binding intrinsic factor ISO protein:increased excretion:urine:
DNA:polymorphisms, missense mutations, splice sites:exon,intron:
RGD PMID:10435666, PMID:15738392 RGD:11049583, RGD:11049586 NCBI chr21:50,334,769...50,350,598
Ensembl chr21:50,334,769...50,350,598
JBrowse link
G CUBN cubilin IEA
ISO
Intestinal cobalamin malabsorption, CUBN-related OMIA
OMIM
PMID:1848001, PMID:1941244, PMID:1999430, PMID:10493414, PMID:11023127, PMID:14576052, PMID:14722725, PMID:15845892, PMID:16035451, PMID:23535754, PMID:23613799, PMID:23746554, PMID:24164695, PMID:24433284, PMID:24467303, PMID:25131805, PMID:27387721 NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839
JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of ClinVar PMID:28492532 NCBI chr 8:70,739,389...70,794,448
Ensembl chr 8:70,739,417...70,790,645
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 OMIM NCBI chr 8:70,800,435...70,807,835 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 chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750
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 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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 chr17:2,216,402...2,310,398
Ensembl chr17:2,216,391...2,310,174
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:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715
JBrowse link
G MMACHC metabolism of cobalamin associated C ISO OMIM NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113
JBrowse link
G PRDX1 peroxiredoxin 1 ISO OMIM NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971
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 8:47,488,414...47,507,041
Ensembl chr 8:47,488,475...47,504,654
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 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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 chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
G MEPE matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr32:11,212,531...11,222,805
Ensembl chr32:11,212,531...11,222,805
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 chr21:50,334,769...50,350,598
Ensembl chr21:50,334,769...50,350,598
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 chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767
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 chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
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 chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:30311386 NCBI chr  X:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
ClinVar Annotator: match by term: Vitamin D-Dependent Rickets
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9486994, PMID:11416220, PMID:16494812 RGD:1600874, RGD:734871 NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:30311386 NCBI chr21:37,553,883...37,579,744
Ensembl chr21:37,552,732...37,606,725
JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:28492532, PMID:30311386 NCBI chr32:11,022,900...11,053,900
Ensembl chr32:11,045,508...11,053,252
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794
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 chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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 chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD40LG CD40 ligand treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:16716410 RGD:2313422 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
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 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435
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 7:29,094,341...29,114,319
Ensembl chr 7:29,094,101...29,113,249
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 chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
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 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 treatment ISO RGD PMID:22554462, PMID:25451926 RGD:13782197, RGD:13782256 NCBI chr28:7,423,955...7,432,359
Ensembl chr28:7,428,772...7,432,370
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr13:38,398,445...38,441,128
Ensembl chr13:38,400,591...38,441,015
JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr15:52,399,773...52,409,590
Ensembl chr15:52,399,544...52,406,176
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
JBrowse link
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750
JBrowse link
G TGM1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
Vitamin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100855679 serine--pyruvate aminotransferase, mitochondrial ISO RGD PMID:12544342 RGD:1599455 NCBI chr25:50,968,291...50,976,089 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 8:47,488,414...47,507,041
Ensembl chr 8:47,488,475...47,504,654
JBrowse link
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Cobalamin deficiency ClinVar PMID:25741868 NCBI chr 8:70,800,435...70,807,835 JBrowse link
G CALR calreticulin ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:16716410 RGD:2313422 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CFL1 cofilin 1 ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212
JBrowse link
G FUT2 fucosyltransferase 2 ISO OMIM NCBI chr 1:107,616,477...107,626,968 JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO protein:decreased expression,decreased activity:liver: RGD PMID:14646334 RGD:8694080 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:22568797 RGD:11553830 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 susceptibility ISO associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A RGD PMID:18476984 RGD:2307310 NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
JBrowse link
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546
JBrowse link
G NADSYN1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514
JBrowse link
G RETN resistin ISO mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
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 chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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 cytochrome P450 family 27 subfamily B member 1 ISO OMIM NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 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 chr21:37,553,883...37,579,744
Ensembl chr21:37,552,732...37,606,725
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 member 1 ISO OMIM NCBI chr21:37,553,883...37,579,744
Ensembl chr21:37,552,732...37,606,725
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 member 1 ISO ClinVar Annotator: match by term: Vitamin D-Dependent Rickets ClinVar NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
JBrowse link
G VDR vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-Dependent Rickets ClinVar PMID:28492532 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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 LOC478000 phytanoyl-CoA hydroxylase-like 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 chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497
JBrowse link
G VDR vitamin D receptor treatment IEA
ISO
Vitamin D-deficiency rickets, type II OMIA
RGD
OMIM
PMID:19909429, PMID:24693968 RGD:13432060 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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 chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
JBrowse link
G TTPA alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr29:13,177,690...13,198,910
Ensembl chr29:13,182,308...13,192,553
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 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
JBrowse link
G GGCX gamma-glutamyl carboxylase no_association ISO RGD PMID:11154138 RGD:11040513 NCBI chr17:39,512,293...39,525,251
Ensembl chr17:39,512,387...39,529,121
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 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G TKT transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr20:36,690,540...36,705,980
Ensembl chr20:36,681,531...36,742,199
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 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
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 6:16,448,603...16,497,064
Ensembl chr 6:16,448,588...16,497,752
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked ISO OMIM NCBI chr  X:17,830,714...18,038,755
Ensembl chr  X:17,829,158...18,035,775
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:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    Nutritional and Metabolic Diseases 3685
      nutrition disease 712
        Malnutrition 191
          nutritional deficiency disease 183
            Avitaminosis 101
              Ascorbic Acid Deficiency + 1
              Vitamin A Deficiency + 11
              Vitamin B Deficiency + 63
              Vitamin D Deficiency + 22
              Vitamin E Deficiency + 4
              vitamin K deficiency bleeding 2
Path 2
Term Annotations click to browse term
  disease 12699
    Nutritional and Metabolic Diseases 3685
      disease of metabolism 3685
        acquired metabolic disease 2144
          nutrition disease 712
            Malnutrition 191
              nutritional deficiency disease 183
                Avitaminosis 101
                  Ascorbic Acid Deficiency + 1
                  Vitamin A Deficiency + 11
                  Vitamin B Deficiency + 63
                  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.