Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 Gulo gulonolactone (L-) oxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30606963 NCBI chr14:65,986,786...66,009,254
Ensembl chr14:65,986,786...66,009,207
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
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
IEA
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
OMIM:193100
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by OMIM:193100
ClinVar
MouseDO
OMIM
PMID:1353055, PMID:5173181, PMID:9024275, PMID:11062477, PMID:11409890, PMID:11737582, PMID:11805436, PMID:12050201, PMID:12130585, PMID:12711740, PMID:12851820, PMID:12874285, PMID:15182416, PMID:15590700, PMID:15628294, PMID:15836777, PMID:15885032, PMID:16436388, PMID:17227222, PMID:17452648, PMID:17623664, PMID:17992255, PMID:18682534, PMID:18982401, PMID:21880793, PMID:22419710, PMID:24033266, PMID:25445451, PMID:26186302, PMID:26467025, PMID:28492532, PMID:11062477, PMID:19655082 RGD:1598933, RGD:10044239 NCBI chr 6:127,072,902...127,082,296
Ensembl chr 6:127,072,902...127,081,408
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 protein 1 ISO
ISS
IEA
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr 5:104,197,575...104,214,102
Ensembl chr 5:104,202,613...104,214,102
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
PMID:24033266, PMID:28492532 NCBI chr10:24,637,914...24,712,159
Ensembl chr10:24,637,914...24,712,159
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 (cytosine-5) 1 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr 9:20,907,206...20,959,888
Ensembl chr 9:20,907,209...20,959,888
JBrowse link
G Dnmt3l DNA (cytosine-5-)-methyltransferase 3-like ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr10:78,042,287...78,063,622
Ensembl chr10:78,041,947...78,063,622
JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr18:70,568,225...70,629,134
Ensembl chr18:70,568,189...70,626,131
JBrowse link
congenital intrinsic factor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Intrinsic factor deficiency
ClinVar Annotator: match by OMIM:261000
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
OMIM
ClinVar
PMID:14576042, PMID:14695536, PMID:15738392, PMID:19036097, PMID:20408840, PMID:22854512, PMID:22929189, PMID:24033266, PMID:25308559, PMID:27577878, PMID:28492532, PMID:30311386, PMID:14695536 RGD:11049582 NCBI chr19:11,747,543...11,763,447
Ensembl chr19:11,747,554...11,763,447
JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionase (cystathionine gamma-lyase) ISO
IEA
ClinVar Annotator: match by term: Cystathioninuria
OMIM:219500
ClinVar Annotator: match by OMIM:219500
OMIM
ClinVar
MouseDO
PMID:12574942, PMID:15151507, PMID:18476726, PMID:19019829, PMID:19428278, PMID:20584029, PMID:23555315, PMID:25741868, PMID:28492532 NCBI chr 3:157,894,248...157,925,081
Ensembl chr 3:157,894,248...157,925,077
JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride channel, voltage-sensitive 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:7,153,810...7,319,358
Ensembl chr  X:7,153,810...7,319,358
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:157,162,075...157,415,286
Ensembl chr  X:157,162,075...157,415,312
JBrowse link
G Phyh phytanoyl-CoA 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 chr 2:4,918,996...4,938,743
Ensembl chr 2:4,919,019...4,938,730
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) 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 chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
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 A-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Ttpa tocopherol (alpha) transfer protein ISO
IEA
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E
ClinVar Annotator: match by term: Ataxia with vitamin E deficiency
ClinVar Annotator: match by term: Ataxia, Friedreich-like, with isolated vitamin E deficiency
OMIM:277460
ClinVar Annotator: match by OMIM:277460
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:3477125, PMID:3837850, PMID:7566022, PMID:7719340, PMID:8602747, PMID:8965888, PMID:9463307, PMID:9588854, PMID:9931538, PMID:10360777, PMID:10896705, PMID:11013295, PMID:11752462, PMID:12039660, PMID:12112220, PMID:12470185, PMID:12899840, PMID:12907280, PMID:15065857, PMID:15300460, PMID:15953402, PMID:16819822, PMID:17049453, PMID:18414213, PMID:18458085, PMID:18458655, PMID:19566498, PMID:21228398, PMID:22696689, PMID:23077608, PMID:23445347, PMID:23599266, PMID:23713716, PMID:24033266, PMID:24369383, PMID:25614784, PMID:25741868, PMID:26068213, PMID:26467025, PMID:27274910, PMID:27307040, PMID:28492532, PMID:30311386 NCBI chr 4:20,007,894...20,030,822
Ensembl chr 4:20,007,938...20,030,785
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 chr13:92,354,783...92,389,053
Ensembl chr13:92,354,726...92,389,053
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
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 HEAT/Armadillo motif containing 1 ISO ClinVar Annotator: match by term: Hereditary Folate Malabsorption ClinVar PMID:11807405, PMID:17129779, PMID:17446347, PMID:20686069 NCBI chr11:78,470,273...78,497,816
Ensembl chr11:78,472,330...78,497,754
JBrowse link
G Slc46a1 solute carrier family 46, member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Folate Malabsorption
ClinVar Annotator: match by OMIM:229050
OMIM
ClinVar
CTD
PMID:3987728, PMID:11804211, PMID:11807405, PMID:17129779, PMID:17446347, PMID:18559978, PMID:19176287, PMID:20686069, PMID:20795774, PMID:20805364, PMID:21333572, PMID:21346251, PMID:25741868, PMID:28492532 NCBI chr11:78,465,701...78,471,945
Ensembl chr11:78,465,697...78,472,059
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 IEP protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 IMP
IEA
ISO
OMIM:241530
DNA:deletions, snps:multiple (human)
MouseDO PMID:19570882, PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr13:55,399,622...55,414,695
Ensembl chr13:55,398,187...55,415,592
JBrowse link
G Slc34a3 solute carrier family 34 (sodium phosphate), member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS
ClinVar Annotator: match by OMIM:241530
OMIM
ClinVar
PMID:2983203, PMID:16358214, PMID:16358215, PMID:16849419, PMID:18523928, PMID:18996815, PMID:19820004, PMID:20074341, PMID:21344632, PMID:22159077, PMID:24246249, PMID:25741868, PMID:26399350, PMID:26789268, PMID:28492532, PMID:29809158 NCBI chr 2:25,228,897...25,234,270
Ensembl chr 2:25,228,898...25,234,364
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
IEA
DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: Homocystinuria
ClinVar Annotator: match by term: CBS deficiency
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency
ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency
OMIM:236200 | OMIM:236250
ClinVar Annotator: match by OMIM:236200
ClinVar
MouseDO
OMIM
PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7564249, PMID:7581402, PMID:7611293, PMID:7635485, PMID:7762555, PMID:7849717, PMID:7967489, PMID:7981678, PMID:8353501, PMID:8528202, PMID:8554066, PMID:8744616, PMID:8755636, PMID:8803779, PMID:8940271, PMID:8940285, PMID:8990018, PMID:9156316, PMID:9232191, PMID:9266356, PMID:9361025, PMID:9587029, PMID:9590298, PMID:9708897, PMID:9813456, PMID:9864922, PMID:9870207, PMID:9889017, PMID:10215408, PMID:10328723, PMID:10338090, PMID:10363126, PMID:10364517, PMID:10408774, PMID:10531322, PMID:10687314, PMID:10780316, PMID:10807759, PMID:11204591, PMID:11230183, PMID:11343305, PMID:11359213, PMID:11434706, PMID:11524006, PMID:11553052, PMID:11774777, PMID:12007221, PMID:12124992, PMID:12269827, PMID:12379655, PMID:12552044, PMID:12686134, PMID:12815602, PMID:12828591, PMID:14635102, PMID:14722619, PMID:14722927, PMID:14972327, PMID:15087459, PMID:15146473, PMID:15192637, PMID:15365998, PMID:15494741, PMID:15993874, PMID:16205833, PMID:16245937, PMID:16307898, PMID:16375773, PMID:16429402, PMID:16470595, PMID:16479318, PMID:16619244, PMID:16786517, PMID:17069888, PMID:17072863, PMID:17319270, PMID:17327360, PMID:17352495, PMID:17540596, PMID:18201569, PMID:18280597, PMID:18423051, PMID:18454451, PMID:18708589, PMID:18805305, PMID:18950795, PMID:19232736, PMID:19370759, PMID:19429038, PMID:19819175, PMID:19906435, PMID:19914636, PMID:20066033, PMID:20308073, PMID:20455263, PMID:20490928, PMID:20506325, PMID:20567906, PMID:20601281, PMID:20694756, PMID:20821054, PMID:20871414, PMID:21030686, PMID:21062078, PMID:21240075, PMID:21517828, PMID:21520339, PMID:21626167, PMID:21957013, PMID:22002135, PMID:22069143, PMID:22267502, PMID:22333527, PMID:22353391, PMID:22382802, PMID:22612060, PMID:22738154, PMID:22891245, PMID:22977242, PMID:22985361, PMID:23592311, PMID:23733603, PMID:23812867, PMID:23934999, PMID:23974653, PMID:23981774, PMID:24033266, PMID:24138954, PMID:24211323, PMID:24613005, PMID:24990611, PMID:25044645, PMID:25087612, PMID:25197074, PMID:25218699, PMID:25326637, PMID:25331909, PMID:25516723, PMID:25741868, PMID:25939784, PMID:26464485, PMID:26750749, PMID:27243974, PMID:27959664, PMID:28421128, PMID:28488385, PMID:28492532, PMID:28550590, PMID:28583326, PMID:28980096, PMID:29326875, PMID:29352562, PMID:29508359, PMID:29650765, PMID:30246729, PMID:30311386, PMID:30732165, PMID:32245022, PMID:7506602 RGD:1600622 NCBI chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria 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 4:116,702,434...116,708,385
Ensembl chr 4:116,702,279...116,708,406
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO
ISS
DNA:missense mutations, nonsense mutations:cds:multiple (human)
OMIM:236200 | OMIM:236250
MouseDO PMID:10679944 RGD:1601421 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
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 chr13:12,181,331...12,258,199
Ensembl chr13:12,182,712...12,258,113
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
PMID:10484769, PMID:12555939, PMID:15714522, PMID:24033266, PMID:15714522 RGD:5508189 NCBI chr13:68,560,780...68,582,169
Ensembl chr13:68,560,780...68,582,149
JBrowse link
G Pkhd1 polycystic kidney and hepatic disease 1 ISO ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency ClinVar PMID:25741868 NCBI chr 1:20,057,779...20,618,082
Ensembl chr 1:20,057,779...20,618,064
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 null
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 chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
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 ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:236270
OMIM
ClinVar
PMID:1060915, PMID:2860337, PMID:6700644, PMID:9501215, PMID:10484769, PMID:12555939, PMID:12971424, PMID:15292234, PMID:15494741, PMID:15714522, PMID:20120036, PMID:22887477, PMID:25526710, PMID:25741868, PMID:25978498, PMID:28492532, PMID:30041674 NCBI chr13:68,560,780...68,582,169
Ensembl chr13:68,560,780...68,582,149
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 OMIM:115300 OMIM
ClinVar
PMID:5453458, PMID:17951468 NCBI chr 8:117,095,851...117,133,720
Ensembl chr 8:117,095,854...117,133,720
JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Ahcy S-adenosylhomocysteine hydrolase ISO RGD PMID:12208805 RGD:1598896 NCBI chr 2:155,059,310...155,074,497
Ensembl chr 2:155,059,310...155,074,497
JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Atp1a1 ATPase, Na+/K+ transporting, alpha 1 polypeptide ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 3:101,576,219...101,604,707
Ensembl chr 3:101,576,219...101,604,684
JBrowse link
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 1:172,271,709...172,298,064
Ensembl chr 1:172,271,709...172,298,064
JBrowse link
G Bche butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 3:73,635,805...73,708,436
Ensembl chr 3:73,635,808...73,708,415
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
JBrowse link
G Cbs cystathionine beta-synthase ISO mRNA:decreased expression, protein:decreased expression
ClinVar Annotator: match by term: Hyperhomocysteinemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7762555, PMID:12686134, PMID:16205833, PMID:16479318, PMID:17292331, PMID:19028542, PMID:19204075, PMID:21517828, PMID:22267502, PMID:22977242, PMID:25741868, PMID:28492532, PMID:16636197 RGD:1600624 NCBI chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Cth cystathionase (cystathionine gamma-lyase) ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 3:157,894,248...157,925,081
Ensembl chr 3:157,894,248...157,925,077
JBrowse link
G Cxcl1 chemokine (C-X-C motif) ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 5:90,891,245...90,893,121
Ensembl chr 5:90,891,241...90,893,115
JBrowse link
G Cxcl3 chemokine (C-X-C motif) ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 5:90,786,101...90,788,093
Ensembl chr 5:90,786,103...90,789,600
JBrowse link
G Cxcl5 chemokine (C-X-C motif) ligand 5 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 5:90,759,298...90,761,625
Ensembl chr 5:90,759,360...90,761,624
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 1:75,360,292...75,368,579
Ensembl chr 1:75,360,329...75,368,579
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chr 4:137,862,237...137,965,229
Ensembl chr 4:137,862,237...137,965,229
JBrowse link
G Ednra endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chr 8:77,663,029...77,724,452
Ensembl chr 8:77,663,031...77,724,464
JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 8:13,037,308...13,056,676
Ensembl chr 8:13,037,308...13,056,676
JBrowse link
G F12 coagulation factor XII (Hageman factor) treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr13:55,417,958...55,426,804
Ensembl chr13:55,417,958...55,426,793
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chr  X:75,170,344...75,382,738
Ensembl chr  X:75,172,715...75,382,615
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr17:46,725,664...46,729,211
Ensembl chr17:46,725,664...46,729,168
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 9:108,339,080...108,340,342
Ensembl chr 9:108,338,903...108,340,343
JBrowse link
G Gria1 glutamate receptor, ionotropic, AMPA1 (alpha 1) treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr11:57,011,571...57,330,244
Ensembl chr11:57,011,387...57,330,244
JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr16:9,567,901...9,996,083
Ensembl chr16:9,567,898...9,995,560
JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 6:135,713,221...136,173,615
Ensembl chr 6:135,713,233...136,173,511
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:24739303 RGD:13204791 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
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 PMID:10459572, PMID:15226090, PMID:16317120, PMID:16397167, PMID:16411416, PMID:16575899, PMID:17387702, PMID:18234410, PMID:18551038, PMID:19204075, PMID:19646848, PMID:10679944, PMID:12471611 RGD:1601421, RGD:10449400 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr13:12,181,331...12,258,199
Ensembl chr13:12,182,712...12,258,113
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899, PMID:17369066 NCBI chr13:68,560,780...68,582,169
Ensembl chr13:68,560,780...68,582,149
JBrowse link
G Ngf nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chr 3:102,469,919...102,521,013
Ensembl chr 3:102,469,919...102,521,013
JBrowse link
G Nppb natriuretic peptide type B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 4:147,985,786...147,987,205
Ensembl chr 4:147,985,788...147,987,205
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331, PMID:19028542 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 7:127,991,373...127,993,867
Ensembl chr 7:127,989,708...127,993,867
JBrowse link
G Slc46a1 solute carrier family 46, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr11:78,465,701...78,471,945
Ensembl chr11:78,465,697...78,472,059
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 treatment IEP RGD PMID:24739303 RGD:13204791 NCBI chr  X:20,870,166...20,874,737
Ensembl chr  X:20,870,166...20,874,735
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix protein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 NCBI chr 5:104,197,575...104,214,102
Ensembl chr 5:104,202,613...104,214,102
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase IMP RGD PMID:22615579 RGD:11558021 NCBI chr 5:138,755,081...138,810,063
Ensembl chr 5:138,754,514...138,810,077
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO RGD PMID:14988389 RGD:10044208 NCBI chr 6:127,072,902...127,082,296
Ensembl chr 6:127,072,902...127,081,408
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:25741868 NCBI chr  X:157,162,075...157,415,286
Ensembl chr  X:157,162,075...157,415,312
JBrowse link
G Phyh phytanoyl-CoA 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 chr 2:4,918,996...4,938,743
Ensembl chr 2:4,919,019...4,938,730
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) 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 chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
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 protein 1 ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:241520
OMIM
ClinVar
PMID:17033621, PMID:17033625, PMID:21050253, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:104,197,575...104,214,102
Ensembl chr 5:104,202,613...104,214,102
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
ClinVar Annotator: match by OMIM:613312
DNA:missense mutation:cds:p.Y901S (human)
ClinVar
OMIM
PMID:8960499, PMID:10480624, PMID:11739459, PMID:12881724, PMID:14671192, PMID:14988267, PMID:15001634, PMID:15126519, PMID:15605415, PMID:15677494, PMID:16025115, PMID:16315058, PMID:16607460, PMID:16968801, PMID:19229237, PMID:20016754, PMID:20137772, PMID:20137773, PMID:24033266, PMID:25741868, PMID:27467858, PMID:28492532, PMID:20137773, PMID:20137772 RGD:6906930, RGD:6906931 NCBI chr10:24,637,914...24,712,159
Ensembl chr10:24,637,914...24,712,159
JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnionless 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 chr12:111,271,096...111,276,426
Ensembl chr12:111,271,095...111,276,426
JBrowse link
G Cubn cubilin (intrinsic factor-cobalamin receptor) 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 2:13,276,338...13,491,876
Ensembl chr 2:13,276,338...13,491,813
JBrowse link
G Traf3 TNF receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr12:111,166,321...111,267,155
Ensembl chr12:111,166,370...111,267,153
JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnionless 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, PMID:17285242, PMID:18181028, PMID:21750092, PMID:22078000, PMID:22631584, PMID:22929189, PMID:24156255, PMID:28492532 NCBI chr12:111,271,096...111,276,426
Ensembl chr12:111,271,095...111,276,426
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 chr19:11,747,543...11,763,447
Ensembl chr19:11,747,554...11,763,447
JBrowse link
G Cubn cubilin (intrinsic factor-cobalamin receptor) ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of
ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
DNA:missense mutation:cds:p.P1297L (human)
OMIM
ClinVar
PMID:10080186, PMID:10887099, PMID:15024727, PMID:15963748, PMID:17668238, PMID:21208123, PMID:22277662, PMID:22495309, PMID:22929189, PMID:24033266, PMID:24156255, PMID:25349199, PMID:25525159, PMID:25741868, PMID:27197912, PMID:28492532, PMID:31497480, PMID:31613795, PMID:10080186 RGD:61796 NCBI chr 2:13,276,338...13,491,876
Ensembl chr 2:13,276,338...13,491,813
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 chr12:111,166,321...111,267,155
Ensembl chr12:111,166,370...111,267,153
JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnionless ISO DNA:mutation:splice site:
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE
ClinVar Annotator: match by term: IMERSLUND-GRASBECK SYNDROME 2
ClinVar
OMIM
PMID:6741523, PMID:12590260, PMID:13852753, PMID:15024727, PMID:17114957, PMID:17285242, PMID:22078000, PMID:24156255, PMID:26040326, PMID:17114957 RGD:11071839 NCBI chr12:111,271,096...111,276,426
Ensembl chr12:111,271,095...111,276,426
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, plasma ISO CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr19:38,116,620...38,125,321
Ensembl chr19:38,116,629...38,125,281
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 ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency
ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
ClinVar Annotator: match by OMIM:236250
ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
OMIM
ClinVar
PMID:1522835, PMID:3347350, PMID:3580562, PMID:6381059, PMID:7564788, PMID:7647779, PMID:7726158, PMID:7741859, PMID:7920641, PMID:8542260, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8940272, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545406, PMID:9737770, PMID:9781030, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10551815, PMID:10732818, PMID:10767000, PMID:10869114, PMID:10923034, PMID:10930360, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, 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:12673793, PMID:12733064, PMID:12796225, PMID:12840091, PMID:12915598, PMID:14647408, PMID:15048559, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:16013960, PMID:16019535, PMID:16172608, 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:17409006, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18523009, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20236116, PMID:20356773, PMID:20490923, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:21778025, PMID:22143415, PMID:22838948, PMID:22887477, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:24797679, PMID:24997712, PMID:25007187, PMID:25024447, PMID:25065700, PMID:25079578, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25736335, PMID:25741868, PMID:25778468, PMID:25856670, PMID:26014925, PMID:26025547, PMID:26872964, PMID:26898294, PMID:27399166, PMID:27743313, PMID:27768236, PMID:28492532, PMID:28696419, PMID:29391032, PMID:29683944, PMID:30311386 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
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 chr12:28,437,795...28,552,942
Ensembl chr12:28,437,795...28,552,399
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:73,942,792...73,966,995
Ensembl chr  X:73,942,792...73,966,357
JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria ISO
IEA
ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
OMIM:277400
ClinVar Annotator: match by OMIM:277400
OMIM
ClinVar
CTD
MouseDO
PMID:11261516, PMID:11320193, PMID:16311595, PMID:16714133, PMID:17431913, PMID:17768669, PMID:17853453, PMID:18164228, PMID:18245139, PMID:19370762, PMID:19700356, PMID:19760748, PMID:19767224, PMID:19914430, PMID:20219402, PMID:20549364, PMID:20610126, PMID:20631720, PMID:20652818, PMID:20924684, PMID:21055272, PMID:21114891, PMID:21228398, PMID:21748409, PMID:21835369, PMID:22447314, PMID:22560872, PMID:22642810, PMID:23580368, PMID:23757202, PMID:23825108, PMID:23837176, PMID:23954310, PMID:24033266, PMID:24126030, PMID:24210589, PMID:24577983, PMID:24599607, PMID:25388550, PMID:25398587, PMID:25511120, PMID:25672861, PMID:25687216, PMID:25689098, PMID:25741868, PMID:25772322, PMID:25809485, PMID:25894566, PMID:26149271, PMID:26270766, PMID:26283149, PMID:26287336, PMID:26412180, PMID:26563984, PMID:26658511, PMID:26825575, PMID:26979128, PMID:26990548, PMID:27252276, PMID:27383490, PMID:27751223, PMID:28151490, PMID:28218226, PMID:28327205, PMID:28454995, PMID:28492532, PMID:28693988, PMID:29042959, PMID:29294253, PMID:29379858, PMID:29396438, PMID:30157807, PMID:32164588 NCBI chr 4:116,702,434...116,708,385
Ensembl chr 4:116,702,279...116,708,406
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC ClinVar
OMIM
PMID:29396438 NCBI chr 4:116,685,599...116,700,000
Ensembl chr 4:116,685,544...116,700,822
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, sub-family D (ALD), member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
ClinVar Annotator: match by OMIM:614857
OMIM
ClinVar
PMID:22922874, PMID:25741868, PMID:28492532 NCBI chr12:84,601,869...84,617,485
Ensembl chr12:84,601,464...84,617,413
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 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
osteomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 IEP protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein with ASARM motif (bone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr 5:104,325,329...104,338,611
Ensembl chr 5:104,325,329...104,338,611
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 chr19:11,747,543...11,763,447
Ensembl chr19:11,747,554...11,763,447
JBrowse link
pyridoxine deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy S-adenosylhomocysteine hydrolase ISO RGD PMID:11575573 RGD:1598897 NCBI chr 2:155,059,310...155,074,497
Ensembl chr 2:155,059,310...155,074,497
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 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor IMP RGD PMID:12671052 RGD:734698 NCBI chr16:36,490,585...36,562,141
Ensembl chr16:36,493,696...36,562,141
JBrowse link
G Clcn5 chloride channel, voltage-sensitive 5 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:30311386 NCBI chr  X:7,153,810...7,319,358
Ensembl chr  X:7,153,810...7,319,358
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO
IEA
IMP
vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
ClinVar Annotator: match by term: Vitamin D-Dependent Rickets
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:16494812, PMID:9486994, PMID:11416220 RGD:1600874, RGD:734871 NCBI chr10:127,048,246...127,054,884
Ensembl chr10:127,048,250...127,053,006
JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISS
ISO
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
ClinVar Annotator: match by term: Rickets
MouseDO
ClinVar
PMID:30311386 NCBI chr 7:114,550,123...114,563,048
Ensembl chr 7:114,549,682...114,562,972
JBrowse link
G Dmp1 dentin matrix protein 1 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:28492532, PMID:30311386 NCBI chr 5:104,197,575...104,214,102
Ensembl chr 5:104,202,613...104,214,102
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase IEA OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr 5:138,755,081...138,810,063
Ensembl chr 5:138,754,514...138,810,077
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 9:110,722,085...110,747,145
Ensembl chr 9:110,722,085...110,747,145
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO
IEA
VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
ClinVar Annotator: match by term: Vitamin D-Dependent Rickets
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:1338926, PMID:17451081, PMID:22466564, PMID:28492532, PMID:2849209 RGD:1624354 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
scurvy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gulo gulonolactone (L-) oxidase ISO OMIM NCBI chr14:65,986,786...66,009,254
Ensembl chr14:65,986,786...66,009,207
JBrowse link
Subacute Combined Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 antigen treatment ISO RGD PMID:16716410, PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:16716410, PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
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 (thiamine transporter), member 2 ISO
IEA
ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE)
ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
OMIM:249270
ClinVar Annotator: match by OMIM:249270
OMIM
ClinVar
MouseDO
PMID:9399900, PMID:10391221, PMID:10391222, PMID:10391223, PMID:10978358, PMID:12065289, PMID:12435857, PMID:14994241, PMID:17132746, PMID:17463047, PMID:18414213, PMID:19643445, PMID:24355766, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:164,249,046...164,265,385
Ensembl chr 1:164,249,046...164,265,385
JBrowse link
transcobalamin II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcn2 transcobalamin 2 ISO ClinVar Annotator: match by term: Transcobalamin II deficiency
ClinVar Annotator: match by term: TCN2 DEFICIENCY
ClinVar Annotator: match by OMIM:275350
OMIM
ClinVar
PMID:7849710, PMID:7980584, PMID:10518276, PMID:12091374, PMID:12194912, PMID:12707225, PMID:14632784, PMID:17220211, PMID:19373259, PMID:20352340, PMID:22188304, PMID:24033266, PMID:25741868, PMID:27155006, PMID:28492532 NCBI chr11:3,917,077...3,932,078
Ensembl chr11:3,917,192...3,932,159
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 chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 treatment IEP
ISO
RGD PMID:25451926, PMID:22554462 RGD:13782197, RGD:13782256 NCBI chr19:37,697,738...37,701,536
Ensembl chr19:37,697,798...37,701,536
JBrowse link
G Cyp2c52-ps cytochrome P450, family 2, subfamily c, polypeptide 52, pseudogene treatment ISO RGD PMID:11724755 RGD:13782260 NCBI chr19:38,976,662...39,003,627
Ensembl chr19:38,976,647...39,003,289
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr15:76,502,012...76,512,021
Ensembl chr15:76,502,015...76,511,953
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr 7:30,942,368...30,944,029
Ensembl chr 7:30,942,368...30,944,032
JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr 9:54,862,658...54,912,534
Ensembl chr 9:54,863,789...54,912,530
JBrowse link
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr 3:82,892,582...82,903,974
Ensembl chr 3:82,892,579...82,903,973
JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr 1:180,568,891...180,600,999
Ensembl chr 1:180,568,924...180,601,254
JBrowse link
G Rbp4 retinol binding protein 4, plasma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr19:38,116,620...38,125,321
Ensembl chr19:38,116,629...38,125,281
JBrowse link
G Tgm1 transglutaminase 1, K polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr14:55,700,009...55,713,921
Ensembl chr14:55,700,009...55,713,926
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
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 aminotransferase ISO RGD PMID:12544342 RGD:1599455 NCBI chr 1:93,135,240...93,145,421
Ensembl chr 1:93,135,240...93,145,421
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, sub-family D (ALD), member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922874 NCBI chr12:84,601,869...84,617,485
Ensembl chr12:84,601,464...84,617,413
JBrowse link
G Amn amnionless ISO ClinVar Annotator: match by term: Cobalamin deficiency ClinVar PMID:25741868 NCBI chr12:111,271,096...111,276,426
Ensembl chr12:111,271,095...111,276,426
JBrowse link
G Calr calreticulin ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr 8:84,842,088...84,846,931
Ensembl chr 8:84,841,850...84,846,934
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:16716410 RGD:2313422 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cfl1 cofilin 1, non-muscle ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr19:5,490,455...5,494,031
Ensembl chr19:5,490,455...5,495,201
JBrowse link
G Fut2 fucosyltransferase 2 ISO ClinVar Annotator: match by term: Vitamin b12 plasma level quantitative trait locus 1 ClinVar
OMIM
PMID:7876234, PMID:7876235, PMID:8755920, PMID:8928486, PMID:12692541, PMID:18776911, PMID:25741868 NCBI chr 7:45,648,591...45,666,394
Ensembl chr 7:45,648,591...45,666,394
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO protein:decreased expression,decreased activity:liver: RGD PMID:14646334 RGD:8694080 NCBI chr13:12,181,331...12,258,199
Ensembl chr13:12,182,712...12,258,113
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:22568797 RGD:11553830 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
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 3:88,383,495...88,384,466
Ensembl chr 3:88,383,501...88,384,464
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 chr10:127,048,246...127,054,884
Ensembl chr10:127,048,250...127,053,006
JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chr 2:69,424,335...69,586,029
Ensembl chr 2:69,424,340...69,586,065
JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chr 7:143,795,589...143,822,862
Ensembl chr 7:143,795,584...143,822,849
JBrowse link
G Retn resistin ISO mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chr 8:3,655,770...3,659,818
Ensembl chr 8:3,655,770...3,660,110
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human)
CTD PMID:9525346, PMID:30683615 RGD:14401752 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
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, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A
ClinVar Annotator: match by OMIM:264700
OMIM
ClinVar
PMID:9415400, PMID:9486994, PMID:9837822, PMID:10518789, PMID:10566658, PMID:11737215, PMID:12050193, PMID:21700898, PMID:22190362, PMID:22443290, PMID:23423976, PMID:23444327, PMID:23483640, PMID:25284246, PMID:25741868, PMID:28492532 NCBI chr10:127,048,246...127,054,884
Ensembl chr10:127,048,250...127,053,006
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 7:114,550,123...114,563,048
Ensembl chr 7:114,549,682...114,562,972
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 ClinVar Annotator: match by term: Vitamin d hydroxylation-deficient rickets, type 1b OMIM
ClinVar
PMID:8201479, PMID:10969262, PMID:15128933, PMID:16549493, PMID:22855339, PMID:24033266, PMID:25942481, PMID:28548312 NCBI chr 7:114,550,123...114,563,048
Ensembl chr 7:114,549,682...114,562,972
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 chr10:127,048,246...127,054,884
Ensembl chr10:127,048,250...127,053,006
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO ClinVar Annotator: match by term: Vitamin D-Dependent Rickets ClinVar PMID:28492532 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
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 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 chr 2:4,918,996...4,938,743
Ensembl chr 2:4,919,019...4,938,730
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor treatment ISO
IMP
ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction:
ClinVar Annotator: match by OMIM:277440
OMIM
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, PMID:24693968, PMID:24859502, PMID:25201466, PMID:24246681, PMID:9275211 RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778, RGD:8158074 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
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 (anion exchanger), member 1 ISO protein:increased degradation:erythrocyte, membrane (rat) RGD PMID:3458208 RGD:10450477 NCBI chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
JBrowse link
G Ttpa tocopherol (alpha) transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 4:20,007,894...20,030,822
Ensembl chr 4:20,007,938...20,030,785
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 3:88,383,495...88,384,466
Ensembl chr 3:88,383,501...88,384,464
JBrowse link
G Ggcx gamma-glutamyl carboxylase no_association ISO RGD PMID:11154138 RGD:11040513 NCBI chr 6:72,414,279...72,433,359
Ensembl chr 6:72,414,308...72,430,712
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 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Tkt transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr14:30,549,131...30,574,724
Ensembl chr14:30,548,359...30,574,720
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 IEP mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 3:88,383,495...88,384,466
Ensembl chr 3:88,383,501...88,384,464
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 5:138,755,081...138,810,063
Ensembl chr 5:138,754,514...138,810,077
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO
IEA
IAGP
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant
OMIM:300554 | OMIM:307800
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:
ClinVar Annotator: match by OMIM:307800
OMIM
ClinVar
MouseDO
PMID:188828, PMID:3394683, PMID:7550339, PMID:9097956, PMID:9106524, PMID:9199930, PMID:9768646, PMID:9768674, PMID:10439971, PMID:10737991, PMID:11004247, PMID:11468271, PMID:11502821, PMID:11502829, PMID:12727977, PMID:14564066, PMID:14564077, PMID:16055933, PMID:16303832, PMID:16636593, PMID:18162710, PMID:18252791, PMID:18625346, PMID:19219621, PMID:21050253, PMID:21902834, PMID:21994957, PMID:22261628, PMID:22695891, PMID:23079138, PMID:23466123, PMID:24033266, PMID:24684036, PMID:24756041, PMID:24857004, PMID:24926462, PMID:25525159, PMID:25741868, PMID:25839938, PMID:26040324, PMID:26051471, PMID:26377240, PMID:26467025, PMID:27840894, PMID:28492532, PMID:28506344, PMID:29393334, PMID:29460029, PMID:29505567, PMID:29858904, PMID:30298486, PMID:30607568, PMID:30682568, PMID:30920082, PMID:22573557, PMID:9063736, PMID:9106524, PMID:7550339 RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:157,162,075...157,415,286
Ensembl chr  X:157,162,075...157,415,312
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 channel, voltage-sensitive 5 ISO ClinVar Annotator: match by term: X-linked recessive hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive
ClinVar
OMIM
PMID:7915957, PMID:8559248, PMID:9187673, PMID:9734595, PMID:15086899, PMID:16822791, PMID:19546591, PMID:24081861, PMID:25741868 NCBI chr  X:7,153,810...7,319,358
Ensembl chr  X:7,153,810...7,319,358
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    Nutritional and Metabolic Diseases 3929
      nutrition disease 758
        Malnutrition 199
          nutritional deficiency disease 191
            Avitaminosis 106
              Ascorbic Acid Deficiency + 2
              Vitamin A Deficiency + 12
              Vitamin B Deficiency + 66
              Vitamin D Deficiency + 22
              Vitamin E Deficiency + 4
              vitamin K deficiency bleeding 2
Path 2
Term Annotations click to browse term
  disease 13427
    Nutritional and Metabolic Diseases 3929
      disease of metabolism 3929
        acquired metabolic disease 2290
          nutrition disease 758
            Malnutrition 199
              nutritional deficiency disease 191
                Avitaminosis 106
                  Ascorbic Acid Deficiency + 2
                  Vitamin A Deficiency + 12
                  Vitamin B Deficiency + 66
                  Vitamin D Deficiency + 22
                  Vitamin E Deficiency + 4
                  vitamin K deficiency bleeding 2
paths to the root

NHLBI Logo

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