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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 GULOP gulonolactone (L-) oxidase, pseudogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:30606963 NCBI chr 8:27,577,611...27,589,073
Ensembl chr 8:27,560,274...27,589,073
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
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 IAGP DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar
OMIM
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 chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
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 IAGP
ISS
IEA
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP
IEA
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
PMID:24033266, PMID:28492532 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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 chr19:10,133,346...10,194,953
Ensembl chr19:10,133,345...10,231,286
JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr21:44,246,339...44,261,897
Ensembl chr21:44,246,339...44,262,216
JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr18:54,151,606...54,224,669
Ensembl chr18:54,151,606...54,224,669
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 IAGP DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
ClinVar Annotator: match by term: Intrinsic factor deficiency
ClinVar Annotator: match by term: PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR
ClinVar
OMIM
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 chr11:59,829,268...59,845,501
Ensembl chr11:59,829,273...59,845,499
JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTH cystathionine gamma-lyase IAGP ClinVar Annotator: match by term: Cystathioninuria ClinVar
OMIM
PMID:12574942, PMID:15151507, PMID:18476726, PMID:19019829, PMID:19428278, PMID:20584029, PMID:23555315, PMID:25741868, PMID:28492532 NCBI chr 1:70,411,268...70,441,949
Ensembl chr 1:70,411,218...70,439,851
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:49,922,596...50,099,231
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked EXP
IAGP
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:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,251,310
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956, PMID:9199930, PMID:11468271, PMID:12727977, PMID:18625346, PMID:24684036, PMID:25741868, PMID:28492532, PMID:29858904 NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358
Ensembl chr  X:22,191,895...22,235,358
JBrowse link
G VDR vitamin D receptor IAGP 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 chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOB apolipoprotein B EXP CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G TTPA alpha tocopherol transfer protein IAGP
EXP
ClinVar Annotator: match by term: Ataxia with vitamin E deficiency
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E
ClinVar Annotator: match by term: Ataxia, Friedreich-like, with isolated vitamin E deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 8:63,059,488...63,086,523
Ensembl chr 8:63,048,553...63,086,053
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21310277 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
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 IAGP 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 chr17:28,371,694...28,404,049
Ensembl chr17:28,364,356...28,404,049
JBrowse link
G SLC46A1 solute carrier family 46 member 1 IAGP
EXP
ClinVar Annotator: match by term: Hereditary Folate Malabsorption
ClinVar Annotator: match by term: Congenital defect of folate absorption
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 chr17:28,394,642...28,406,630
Ensembl chr17:28,394,642...28,407,197
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 chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO
ISS
IAGP
OMIM:241530
DNA:deletions, snps:multiple (human)
MouseDO PMID:19570882, PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar
OMIM
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 9:137,230,757...137,236,555
Ensembl chr 9:137,230,757...137,236,555
Ensembl chr 9:137,230,757...137,236,555
JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase IAGP DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency
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: Homocystinuria due to CBS deficiency
ClinVar Annotator: match by term: HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE
ClinVar
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 chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP 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 1:45,500,229...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP
IEA
DNA:missense mutations, nonsense mutations:cds:multiple (human)
OMIM:236200 | OMIM:236250
MouseDO PMID:10679944 RGD:1601421 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP 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 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP
EXP
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 chr 5:7,851,186...7,901,124
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency ClinVar PMID:25741868 NCBI chr 6:51,614,685...52,087,625
Ensembl chr 6:51,615,299...52,087,613
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 IAGP 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 chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
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 IAGP ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type ClinVar
OMIM
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 chr 5:7,851,186...7,901,124
Ensembl chr 5:7,851,186...7,906,025
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 IAGP ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant ClinVar
OMIM
PMID:5453458, PMID:17951468 NCBI chr16:81,238,448...81,291,142
Ensembl chr16:81,238,689...81,291,142
JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G AHCY adenosylhomocysteinase ISO RGD PMID:12208805 RGD:1598896 NCBI chr20:34,235,012...34,311,976
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G APOE apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 1:116,372,986...116,410,259
Ensembl chr 1:116,372,668...116,410,261
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G BCHE butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G CASP1 caspase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr11:105,025,443...105,035,591
Ensembl chr11:105,025,443...105,035,250
JBrowse link
G CBS cystathionine beta-synthase ISO
IAGP
EXP
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 chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CTH cystathionine gamma-lyase IAGP ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 1:70,411,268...70,441,949
Ensembl chr 1:70,411,218...70,439,851
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 IEP protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 IEP protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
JBrowse link
G DES desmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,734
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 5:177,402,138...177,409,564
Ensembl chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,141...177,409,564
JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G GNMT glycine N-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 6:42,960,754...42,963,880
Ensembl chr 6:42,960,754...42,963,880
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,358
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 5:153,490,670...153,813,873
Ensembl chr 5:153,489,615...153,813,869
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr12:13,537,337...13,982,012
Ensembl chr12:13,437,942...13,982,002
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment IAGP
EXP
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 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP RGD PMID:12068375 RGD:1601425 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16575899, PMID:17369066 NCBI chr 5:7,851,186...7,901,124
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G NGF nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chr 1:115,285,915...115,338,253
Ensembl chr 1:115,285,917...115,338,256
Ensembl chr 1:115,285,917...115,338,256
Ensembl chr 1:115,285,917...115,338,256
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,964...35,869,287
JBrowse link
G NPPB natriuretic peptide B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17292331, PMID:19028542 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PYCARD PYD and CARD domain containing EXP CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr16:31,201,486...31,202,760
Ensembl chr16:31,201,486...31,203,450
JBrowse link
G SLC46A1 solute carrier family 46 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr17:28,394,642...28,406,630
Ensembl chr17:28,394,642...28,407,197
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:47,582,408...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
JBrowse link
G FGF23 fibroblast growth factor 23 IDA RGD PMID:14988389 RGD:10044208 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,251,310
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358
Ensembl chr  X:22,191,895...22,235,358
JBrowse link
G VDR vitamin D receptor IAGP 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 chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
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 IAGP ClinVar Annotator: match by term: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:17033621, PMID:17033625, PMID:21050253, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
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 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
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 chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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 IAGP 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 chr14:102,922,430...102,933,597
Ensembl chr14:102,922,656...102,933,596
Ensembl chr14:102,922,656...102,933,596
JBrowse link
G CUBN cubilin IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:10080186, PMID:10887099, PMID:15024727, PMID:15963748, PMID:22277662, PMID:22495309, PMID:22929189, PMID:24033266, PMID:24156255, PMID:25349199, PMID:25525159, PMID:25741868, PMID:27197912, PMID:28492532, PMID:31497480, PMID:31613795 NCBI chr10:16,823,966...17,130,492
Ensembl chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811
JBrowse link
G TRAF3 TNF receptor associated factor 3 IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
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 IAGP ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of
ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption
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 chr14:102,922,430...102,933,597
Ensembl chr14:102,922,656...102,933,596
Ensembl chr14:102,922,656...102,933,596
JBrowse link
G CBLIF cobalamin binding intrinsic factor IAGP
IEP
DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:
RGD PMID:15738392, PMID:10435666 RGD:11049583, RGD:11049586 NCBI chr11:59,829,268...59,845,501
Ensembl chr11:59,829,273...59,845,499
JBrowse link
G CUBN cubilin IAGP DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption
ClinVar
OMIM
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 chr10:16,823,966...17,130,492
Ensembl chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811
JBrowse link
G TRAF3 TNF receptor associated factor 3 IAGP ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of ClinVar PMID:28492532 NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
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 IAGP 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 chr14:102,922,430...102,933,597
Ensembl chr14:102,922,656...102,933,596
Ensembl chr14:102,922,656...102,933,596
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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 IAGP ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency
ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
ClinVar
OMIM
PMID:1522835, PMID:3347350, PMID:3580562, PMID:6381059, PMID:7564788, 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 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
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 IAGP ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:25741868 NCBI chr 2:3,703,575...3,848,008
Ensembl chr 2:3,703,575...3,848,008
JBrowse link
G HCFC1 host cell factor C1 IAGP 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:153,947,556...153,972,360
Ensembl chr  X:153,947,557...153,971,818
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP
EXP
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
ClinVar
CTD
OMIM
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 1:45,500,229...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G PRDX1 peroxiredoxin 1 IAGP ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC ClinVar
OMIM
PMID:29396438 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,511,036...45,523,047
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 IAGP ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE ClinVar
OMIM
PMID:22922874, PMID:25741868, PMID:28492532 NCBI chr14:74,285,269...74,303,062
Ensembl chr14:74,285,269...74,303,055
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 IAGP 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 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
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 chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G MEPE matrix extracellular phosphoglycoprotein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr 4:87,821,398...87,846,817
Ensembl chr 4:87,821,411...87,846,817
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 IDA RGD PMID:4434116, PMID:167441 RGD:11049584, RGD:11049587 NCBI chr11:59,829,268...59,845,501
Ensembl chr11:59,829,273...59,845,499
JBrowse link
pyridoxine deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO RGD PMID:11575573 RGD:1598897 NCBI chr20:34,235,012...34,311,976
Ensembl chr20:34,280,268...34,311,802
JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH parathyroid hormone IEP associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
riboflavin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC52A1 solute carrier family 52 member 1 IAGP ClinVar Annotator: match by term: Riboflavin deficiency
ClinVar Annotator: match by term: Vitamin B2 deficiency
ClinVar
OMIM
PMID:17689999, PMID:21089064, PMID:23506902, PMID:25741868, PMID:28492532, PMID:29122468 NCBI chr17:5,032,602...5,035,426
Ensembl chr17:5,032,600...5,052,009
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 chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: Rickets ClinVar PMID:30311386 NCBI chr  X:49,922,596...50,099,231
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP
EXP
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
ClinVar
CTD
PMID:16494812, PMID:9486994, PMID:11416220 RGD:1600874, RGD:734871 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IEA
IAGP
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
ClinVar Annotator: match by term: Rickets
MouseDO
ClinVar
PMID:30311386 NCBI chr11:14,877,440...14,898,915
Ensembl chr11:14,877,440...14,892,252
JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP ClinVar Annotator: match by term: Rickets ClinVar PMID:28492532, PMID:30311386 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISS OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
JBrowse link
G PTH parathyroid hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G PTH1R parathyroid hormone 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G VDR vitamin D receptor IAGP
EXP
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
ClinVar
CTD
PMID:1338926, PMID:17451081, PMID:22466564, PMID:28492532, PMID:2849209 RGD:1624354 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
scurvy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GULOP gulonolactone (L-) oxidase, pseudogene IAGP OMIM NCBI chr 8:27,577,611...27,589,073
Ensembl chr 8:27,560,274...27,589,073
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, PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
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:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr14:94,376,747...94,390,654
Ensembl chr14:94,376,747...94,390,693
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 IAGP ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE)
ClinVar
OMIM
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 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944
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 IAGP ClinVar Annotator: match by term: Transcobalamin II deficiency
ClinVar Annotator: match by term: TCN2 DEFICIENCY
ClinVar
OMIM
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 chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16120438 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 treatment ISO RGD PMID:25451926, PMID:22554462 RGD:13782197, RGD:13782256 NCBI chr10:93,073,475...93,077,885
Ensembl chr10:93,073,475...93,077,885
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
JBrowse link
G LRAT lecithin retinol acyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,691...226,408,093
JBrowse link
G RBP4 retinol binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
JBrowse link
G TGM1 transglutaminase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
Vitamin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO RGD PMID:12544342 RGD:1599455 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22922874 NCBI chr14:74,285,269...74,303,062
Ensembl chr14:74,285,269...74,303,055
JBrowse link
G AMN amnion associated transmembrane protein IAGP ClinVar Annotator: match by term: Cobalamin deficiency ClinVar PMID:25741868 NCBI chr14:102,922,430...102,933,597
Ensembl chr14:102,922,656...102,933,596
Ensembl chr14:102,922,656...102,933,596
JBrowse link
G CALR calreticulin ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:16716410 RGD:2313422 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CFL1 cofilin 1 ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
JBrowse link
G FUT2 fucosyltransferase 2 IAGP 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 chr19:48,695,971...48,705,951
Ensembl chr19:48,695,971...48,705,951
JBrowse link
G LOC105447645 uncharacterized LOC105447645 IAGP ClinVar Annotator: match by term: Vitamin b12 plasma level quantitative trait locus 1 ClinVar PMID:7876234, PMID:7876235, PMID:8755920, PMID:8928486, PMID:12692541, PMID:18776911, PMID:25741868 NCBI chr19:48,702,450...48,703,848 JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO protein:decreased expression,decreased activity:liver: RGD PMID:14646334 RGD:8694080 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G PON1 paraoxonase 1 IEP protein:decreased activity:serum (human) RGD PMID:22568797 RGD:11553830 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 susceptibility IAGP associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A RGD PMID:18476984 RGD:2307310 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G LRP2 LDL receptor related protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chr 2:169,127,109...169,362,597
Ensembl chr 2:169,127,109...169,362,534
JBrowse link
G NADSYN1 NAD synthetase 1 susceptibility IAGP DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107
JBrowse link
G RETN resistin ISO mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 IEP associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G VDR vitamin D receptor susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism
associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human)
CTD PMID:9525346, PMID:30683615 RGD:14401752 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
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 IAGP 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 term: PDDR IA
ClinVar Annotator: match by term: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
ClinVar
OMIM
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 chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP 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 chr11:14,877,440...14,898,915
Ensembl chr11:14,877,440...14,892,252
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 IAGP 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 chr11:14,877,440...14,898,915
Ensembl chr11:14,877,440...14,892,252
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 IAGP ClinVar Annotator: match by term: Vitamin D-Dependent Rickets ClinVar NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G VDR vitamin D receptor IAGP ClinVar Annotator: match by term: Vitamin D-Dependent Rickets ClinVar PMID:28492532 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Vitamin D-Dependent Rickets, Type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G VDR vitamin D receptor treatment ISO
IAGP
IMP
ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA
ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA
ClinVar Annotator: match by term: PDDR IIA
ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction:
ClinVar
OMIM
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:9275211, PMID:24693968, PMID:24859502, PMID:25201466, PMID:24246681 RGD:8158074, RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Vitamin E Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO protein:increased degradation:erythrocyte, membrane (rat) RGD PMID:3458208 RGD:10450477 NCBI chr17:44,248,390...44,268,161
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G TTPA alpha tocopherol transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 8:63,059,488...63,086,523
Ensembl chr 8:63,048,553...63,086,053
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 IDA RGD PMID:16869104 RGD:6483568 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
JBrowse link
G GGCX gamma-glutamyl carboxylase no_association IAGP RGD PMID:11154138 RGD:11040513 NCBI chr 2:85,544,720...85,561,527
Ensembl chr 2:85,544,720...85,561,547
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 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G TKT transketolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr 3:53,224,712...53,256,052
Ensembl chr 3:53,224,712...53,256,052
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 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
JBrowse link
G CBLL2 Cbl proto-oncogene like 2 IAGP ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant ClinVar NCBI chr  X:22,272,913...22,274,461
Ensembl chr  X:22,272,943...22,274,461
Ensembl chr  X:22,272,943...22,274,461
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IEP mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked IAGP
ISO
DNA:deletion,mutations:exon,splice junction:
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
ClinVar
OMIM
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:7550339, PMID:22573557, PMID:9063736, PMID:9106524 RGD:11556246, RGD:7207229, RGD:11556248, RGD:11556247 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,251,310
JBrowse link
G PHEX-AS1 PHEX antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar PMID:10737991, PMID:28492532, PMID:29460029 NCBI chr  X:22,162,732...22,172,983
Ensembl chr  X:22,162,733...22,172,983
JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar PMID:188828, PMID:9097956, PMID:9199930, PMID:9768646, PMID:9768674, PMID:10439971, PMID:10737991, PMID:11468271, PMID:11502829, PMID:12727977, PMID:14564066, PMID:14564077, PMID:16055933, PMID:16303832, PMID:18625346, PMID:19219621, PMID:21050253, PMID:21902834, PMID:21994957, PMID:22261628, PMID:23079138, PMID:24033266, PMID:24684036, PMID:25741868, PMID:25839938, PMID:26377240, PMID:26467025, PMID:28492532, PMID:29505567, PMID:29858904, PMID:30682568 NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358
Ensembl chr  X:22,191,895...22,235,358
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 IAGP 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:49,922,596...50,099,231
Ensembl chr  X:49,922,596...50,099,235
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    Nutritional and Metabolic Diseases 5145
      nutrition disease 1279
        Malnutrition 212
          nutritional deficiency disease 204
            Avitaminosis 111
              Ascorbic Acid Deficiency + 2
              Vitamin A Deficiency + 11
              Vitamin B Deficiency + 69
              Vitamin D Deficiency + 25
              Vitamin E Deficiency + 4
              vitamin K deficiency bleeding 2
Path 2
Term Annotations click to browse term
  disease 18864
    Nutritional and Metabolic Diseases 5145
      disease of metabolism 5145
        acquired metabolic disease 3167
          nutrition disease 1279
            Malnutrition 212
              nutritional deficiency disease 204
                Avitaminosis 111
                  Ascorbic Acid Deficiency + 2
                  Vitamin A Deficiency + 11
                  Vitamin B Deficiency + 69
                  Vitamin D Deficiency + 25
                  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.