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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


show annotations for term's descendants           Sort by:
 
Ascorbic Acid Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 IEP protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by OMIM:193100
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 chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
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 chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
choline deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 IEP
IDA
mRNA:increased expression:liver:
DNA:hypermethylation:liver:
RGD PMID:17724018, PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dnmt3l DNA methyltransferase 3 like IEP mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr20:11,344,513...11,359,090
Ensembl chr20:11,344,514...11,359,090
JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 IEP
IDA
mRNA:increased expression:liver:
DNA:hypermethylation:liver:
RGD PMID:17724018, PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr18:65,814,026...65,885,115
Ensembl chr18:65,814,026...65,885,114
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 chr 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404
JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Cystathioninuria
ClinVar Annotator: match by OMIM:219500
OMIM
ClinVar
PMID:12574942, PMID:15151507, PMID:18476726, PMID:19019829, PMID:19428278, PMID:20584029, PMID:23555315, PMID:25741868, PMID:28492532 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
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:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893, PMID:2174914, PMID:2177843, PMID:2557627, PMID:2558018, PMID:2849209, PMID:3024987, PMID:8392085, PMID:8675579, PMID:8862631, PMID:8961271, PMID:9005998, PMID:9360557, PMID:9495519, PMID:10707958, PMID:11564167, PMID:17130574, PMID:17371163, PMID:17970811, PMID:18159135, PMID:18279374, PMID:18593774, PMID:19682379, PMID:20200114, PMID:21168462, PMID:21931507, PMID:22992668, PMID:23180655, PMID:24033266, PMID:24073221, PMID:25741868, PMID:26177022, PMID:26198224, PMID:26590811, PMID:26631034, PMID:26911666, PMID:27164139, PMID:27607899, PMID:27778467, PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
familial isolated deficiency of vitamin E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO 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
ClinVar Annotator: match by OMIM:277460
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
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 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
JBrowse link
folic acid deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310277 NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
hereditary folate malabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Hereditary Folate Malabsorption ClinVar PMID:11807405, PMID:17129779, PMID:17446347, PMID:20686069 NCBI chr10:65,742,343...65,766,050
Ensembl chr10:65,742,343...65,766,050
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 chr10:65,728,508...65,741,708
Ensembl chr10:65,733,991...65,740,828
JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS
OMIM:241530
DNA:deletions, snps:multiple (human)
MouseDO PMID:19570882, PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slc34a3 solute carrier family 34 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 3:2,448,391...2,454,019
Ensembl chr 3:2,448,381...2,453,933
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 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
ClinVar Annotator: match by OMIM:236200
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 chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Fcrl2 Fc receptor-like 2 ISO RGD PMID:10679944 RGD:1601421 NCBI chr 2:186,594,442...186,605,115
Ensembl chr 2:186,595,051...186,606,172
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516, PMID:16311595, PMID:16714133, PMID:17853453, PMID:18245139, PMID:19370762, PMID:19700356, PMID:25398587, PMID:25672861, PMID:25689098, PMID:25741868, PMID:26825575, PMID:26990548, PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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 chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency ClinVar PMID:25741868 NCBI chr 9:26,164,969...26,736,704 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 chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
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 chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
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 chr19:49,637,059...49,673,577
Ensembl chr19:49,637,016...49,673,808
JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:12208805 RGD:1598896 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Apoe apolipoprotein E treatment IEP RGD PMID:22762542 RGD:6903856 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Bche butyrylcholinesterase IDA Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cbs cystathionine beta synthase IEP
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 chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Ece1 endothelin converting enzyme 1 IMP RGD PMID:19371338 RGD:4892572 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Ednra endothelin receptor type A IEP RGD PMID:19371338 RGD:4892572 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G F10 coagulation factor X treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F12 coagulation factor XII treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F2 coagulation factor II treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII IDA RGD PMID:16046705 RGD:1601105 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fcrl2 Fc receptor-like 2 ISO RGD PMID:10679944 RGD:1601421 NCBI chr 2:186,594,442...186,605,115
Ensembl chr 2:186,595,051...186,606,172
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899, PMID:17369066 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21044172 RGD:5144149 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nppb natriuretic peptide B IEP mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331, PMID:19028542 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:199,438,029...199,439,062
Ensembl chr 1:199,437,832...199,439,210
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr10:65,728,508...65,741,708
Ensembl chr10:65,733,991...65,740,828
JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO RGD PMID:14988389 RGD:10044208 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
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:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:1652893, PMID:2174914, PMID:2177843, PMID:2557627, PMID:2558018, PMID:2849209, PMID:3024987, PMID:8392085, PMID:8675579, PMID:8862631, PMID:8961271, PMID:9005998, PMID:9360557, PMID:9495519, PMID:10707958, PMID:11564167, PMID:17130574, PMID:17371163, PMID:17970811, PMID:18159135, PMID:18279374, PMID:18593774, PMID:19682379, PMID:20200114, PMID:21168462, PMID:21931507, PMID:22992668, PMID:23180655, PMID:24033266, PMID:24073221, PMID:25741868, PMID:26177022, PMID:26198224, PMID:26590811, PMID:26631034, PMID:26911666, PMID:27164139, PMID:27607899, PMID:27778467, PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:241520
OMIM
ClinVar
PMID:17033621, PMID:17033625, PMID:21050253, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
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 chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523, PMID:12590260, PMID:13852753, PMID:15024727, PMID:17114957, PMID:17285242, PMID:18181028, PMID:21750092, PMID:22078000, PMID:22631584, PMID:22929189, PMID:24156255, PMID:28492532 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:10080186, PMID:10887099, PMID:15024727, PMID:15963748, PMID:22277662, PMID:22495309, PMID:22929189, PMID:24033266, PMID:24156255, PMID:25349199, PMID:25525159, PMID:25741868, PMID:27197912, PMID:28492532, PMID:31497480, PMID:31613795 NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564
JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar PMID:6741523, PMID:12590260, PMID:13852753, PMID:15024727, PMID:17114957, PMID:17285242, PMID:18181028, PMID:21750092, PMID:22078000, PMID:22631584, PMID:22929189, PMID:24156255, PMID:28492532 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
JBrowse link
G Cblif cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:
RGD PMID:15738392, PMID:10435666 RGD:11049583, RGD:11049586 NCBI chr 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404
JBrowse link
G Cubn cubilin ISO DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of
ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar
OMIM
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 chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of ClinVar PMID:28492532 NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564
JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO DNA:mutation:splice site:
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE
ClinVar Annotator: match by term: 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 chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
JBrowse link
keratomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:25741868 NCBI chr 6:47,737,814...47,812,219
Ensembl chr 6:47,774,060...47,848,075
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:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO 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 Annotator: match by OMIM:277400
OMIM
ClinVar
CTD
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 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
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 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
ClinVar Annotator: match by OMIM:614857
OMIM
ClinVar
PMID:22922874, PMID:25741868, PMID:28492532 NCBI chr 6:108,315,026...108,329,550
Ensembl chr 6:108,315,035...108,329,464
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
osteomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr14:6,782,011...6,793,561
Ensembl chr14:6,782,012...6,793,558
JBrowse link
pernicious anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO RGD PMID:4434116, PMID:167441 RGD:11049584, RGD:11049587 NCBI chr 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404
JBrowse link
pyridoxine deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase IDA RGD PMID:11575573 RGD:1598897 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO RGD PMID:12671052 RGD:734698 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:30311386 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
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 chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:28492532, PMID:30311386 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISS OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
JBrowse link
G Vdr vitamin D receptor ISO VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
ClinVar Annotator: match by term: Vitamin D-Dependent Rickets
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1338926, PMID:17451081, PMID:22466564, PMID:28492532, PMID:2849209 RGD:1624354 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Subacute Combined Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule treatment IMP
IDA
RGD PMID:16716410, PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment IEP
IDA
protein:increased expression:cerebrospinal fluid RGD PMID:16716410, PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
thiamine deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 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
ClinVar Annotator: match by OMIM:249270
OMIM
ClinVar
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 chr13:82,552,586...82,566,586
Ensembl chr13:82,552,550...82,566,586
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 chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
Vitamin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16120438 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 treatment ISO
IEP
RGD PMID:25451926, PMID:22554462 RGD:13782197, RGD:13782256 NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 treatment IEP RGD PMID:11724755 RGD:13782260 NCBI chr 1:257,676,172...258,004,428
Ensembl chr 1:257,970,345...258,004,434
JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 treatment IEP RGD PMID:11724755 RGD:13782260 NCBI chr 5:134,196,910...134,207,888
Ensembl chr 5:134,196,912...134,207,863
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 IEP mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link
G Tgm1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
Vitamin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase IEP RGD PMID:12544342 RGD:1599455 NCBI chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
JBrowse link
vitamin B12 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922874 NCBI chr 6:108,315,026...108,329,550
Ensembl chr 6:108,315,035...108,329,464
JBrowse link
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Cobalamin deficiency ClinVar PMID:25741868 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
JBrowse link
G Calr calreticulin IEP protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:16716410 RGD:2313422 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfl1 cofilin 1 IEP protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
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 1:101,631,633...101,651,668
Ensembl chr 1:101,631,635...101,651,668
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase IEP protein:decreased expression,decreased activity:liver: RGD PMID:14646334 RGD:8694080 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:22568797 RGD:11553830 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
Vitamin D Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein IDA RGD PMID:3105848 RGD:6483561 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 susceptibility ISO associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A RGD PMID:18476984 RGD:2307310 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chr 1:216,985,710...217,013,743
Ensembl chr 1:216,985,714...217,013,702
JBrowse link
G Retn resistin IEP mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vdr vitamin D receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human)
CTD PMID:9525346, PMID:30683615 RGD:14401752 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
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 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
JBrowse link
Vitamin D-Dependent Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin D-Dependent Rickets ClinVar NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-Dependent Rickets ClinVar PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Vitamin D-Dependent Rickets, Type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Vdr vitamin D receptor treatment ISO 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 chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Vitamin E Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:increased degradation:erythrocyte, membrane (rat) RGD PMID:3458208 RGD:10450477 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
JBrowse link
vitamin K deficiency bleeding term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO RGD PMID:16869104 RGD:6483568 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Ggcx gamma-glutamyl carboxylase no_association ISO RGD PMID:11154138 RGD:11040513 NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
JBrowse link
Wernicke encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron RGD PMID:18481165 RGD:2300278 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Tkt transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr16:6,609,670...6,634,608
Ensembl chr16:6,609,668...6,634,595
JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant
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
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:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: 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:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      nutrition disease 921
        Malnutrition 201
          nutritional deficiency disease 193
            Avitaminosis 109
              Ascorbic Acid Deficiency + 2
              Vitamin A Deficiency + 13
              Vitamin B Deficiency + 68
              Vitamin D Deficiency + 22
              Vitamin E Deficiency + 4
              vitamin K deficiency bleeding 2
Path 2
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        acquired metabolic disease 2786
          nutrition disease 921
            Malnutrition 201
              nutritional deficiency disease 193
                Avitaminosis 109
                  Ascorbic Acid Deficiency + 2
                  Vitamin A Deficiency + 13
                  Vitamin B Deficiency + 68
                  Vitamin D Deficiency + 22
                  Vitamin E Deficiency + 4
                  vitamin K deficiency bleeding 2
paths to the root

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