FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:calcium metabolism disease
go back to main search page
Accession:DOID:10575 term browser browse the term
Definition:Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.
Synonyms:exact_synonym: Calcium Metabolism Disorder;   Calcium Metabolism Disorders
 primary_id: MESH:D002128;   RDO:0001607
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Aicardi-Goutieres syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:11554173
RGD:8554872
RGD:11069491
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:11554173
G Kat5 lysine acetyltransferase 5 JBrowse link 1 220,967,795 220,974,596 RGD:8554872
G Rnaseh2a ribonuclease H2, subunit A JBrowse link 19 26,074,980 26,084,780 RGD:8554872
RGD:13592920
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
RGD:11554173
G Rnaseh2c ribonuclease H2, subunit C JBrowse link 1 220,966,626 220,967,717 RGD:8554872
RGD:13592920
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:11554173
RGD:8554872
G Tldc2 TBC/LysM-associated domain containing 2 JBrowse link 3 153,195,295 153,208,118 RGD:8554872
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:8554872
RGD:11554173
G Usp18 ubiquitin specific peptidase 18 JBrowse link 4 153,812,312 153,834,374 RGD:11554173
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:8554872
RGD:7240710
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
RGD:7240710
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh2c ribonuclease H2, subunit C JBrowse link 1 220,966,626 220,967,717 RGD:7240710
RGD:8554872
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh2a ribonuclease H2, subunit A JBrowse link 19 26,074,980 26,084,780 RGD:7240710
RGD:8554872
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:7240710
RGD:8554872
RGD:11554173
G Tldc2 TBC/LysM-associated domain containing 2 JBrowse link 3 153,195,295 153,208,118 RGD:8554872
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:7240710
RGD:8554872
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:7240710
RGD:8554872
Albright's hereditary osteodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:7240710
RGD:8554872
RGD:11568049
RGD:11568047
RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:13592920
amelogenesis imperfecta type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:7240710
RGD:8554872
G Prkar1a protein kinase cAMP-dependent type 1 regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:8554872
Aortic Calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:7244260
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:8549476
G Atp5f1d ATP synthase F1 subunit delta JBrowse link 7 12,426,807 12,432,120 RGD:11057945
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:13204716
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11038653
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11038653
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:2315841
Aortic Valve, Calcification of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:11554173
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352276
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Gata5 GATA binding protein 5 JBrowse link 3 175,701,278 175,709,465 RGD:8554872
G Hspd1 heat shock protein family D member 1 JBrowse link 9 61,680,529 61,691,202 RGD:12910476
G Notch1 notch 1 JBrowse link 3 3,905,562 3,951,015 RGD:11554173
RGD:8554872
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:13207434
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242900
G Slc20a1 solute carrier family 20 member 1 JBrowse link 3 121,725,204 121,739,160 RGD:11554173
arterial calcification of infancy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc6 ATP binding cassette subfamily C member 6 JBrowse link 1 101,954,786 102,013,252 RGD:11554173
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:1601044
RGD:8554872
RGD:13204734
RGD:6906932
RGD:731203
autosomal dominant hypocalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amelx amelogenin, X-linked JBrowse link X 26,439,197 26,450,495 RGD:1599092
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483581
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:1598940
RGD:8554872
RGD:7205656
RGD:7205497
RGD:7204717
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:734871
G Gcm2 glial cells missing transcription factor 2 JBrowse link 17 21,490,402 21,499,516 RGD:8554872
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242904
RGD:8554872
autosomal dominant hypocalcemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
RGD:7240710
autosomal dominant hypocalcemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gna11 G protein subunit alpha 11 JBrowse link 7 11,033,400 11,047,284 RGD:7240710
RGD:8554872
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
RGD:11554173
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:1598933
RGD:8554872
RGD:10044239
RGD:7240710
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:8554872
RGD:13592920
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:8554872
RGD:13592920
basal ganglia calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:13592920
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:13592920
G Slc20a2 solute carrier family 20 member 2 JBrowse link 16 74,318,287 74,408,030 RGD:13592920
Calcification of Joints and Arteries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nt5e 5' nucleotidase, ecto JBrowse link 8 95,969,002 96,012,733 RGD:7240710
RGD:8554872
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:7205494
calcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahsg alpha-2-HS-glycoprotein JBrowse link 11 81,711,269 81,717,594 RGD:11554173
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:11554173
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483566
RGD:11554173
RGD:9068449
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068449
G C6 complement C6 JBrowse link 2 54,460,333 54,533,801 RGD:11554173
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11554173
G Ccl6 chemokine (C-C motif) ligand 6 JBrowse link 10 70,798,118 70,802,750 RGD:11554173
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:11554173
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11554173
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:11554173
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:9068449
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:11554173
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11554173
G Erbb2 erb-b2 receptor tyrosine kinase 2 JBrowse link 10 86,367,596 86,391,728 RGD:2289923
G Fcgr1a Fc fragment of IgG receptor Ia JBrowse link 2 198,430,536 198,439,453 RGD:11554173
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:11554173
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 3 52,174,469 52,212,395 RGD:11554173
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:2306608
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Itgb1 integrin subunit beta 1 JBrowse link 19 61,677,512 61,725,537 RGD:11554173
G Itgb2 integrin subunit beta 2 JBrowse link 20 11,777,773 11,815,647 RGD:11554173
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:11554173
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:11554173
G Lcn2 lipocalin 2 JBrowse link 3 11,414,189 11,417,534 RGD:11554173
G Lsp1 lymphocyte-specific protein 1 JBrowse link 1 215,628,750 215,662,505 RGD:11554173
G Ly86 lymphocyte antigen 86 JBrowse link 17 28,104,535 28,191,447 RGD:11554173
G Mgp matrix Gla protein JBrowse link 4 170,856,783 170,860,105 RGD:1582501
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:11554173
G Notch1 notch 1 JBrowse link 3 3,905,562 3,951,015 RGD:11554173
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:11554173
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 JBrowse link 4 157,239,141 157,263,890 RGD:11554173
G Pycard PYD and CARD domain containing JBrowse link 1 199,438,029 199,439,062 RGD:11554173
G Ripk3 receptor-interacting serine-threonine kinase 3 JBrowse link 15 34,470,796 34,479,741 RGD:11554173
G Slc20a2 solute carrier family 20 member 2 JBrowse link 16 74,318,287 74,408,030 RGD:11554173
G Slc22a6 solute carrier family 22 member 6 JBrowse link 1 224,824,809 224,833,284 RGD:11554173
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:9068449
G Spn sialophorin JBrowse link 1 198,572,999 198,585,664 RGD:11554173
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:6903869
RGD:11554173
RGD:9068449
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:11554173
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link 10 107,338,465 107,386,072 RGD:11554173
G Xpr1 xenotropic and polytropic retrovirus receptor 1 JBrowse link 13 72,918,552 73,056,785 RGD:11554173
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
RGD:7240710
G Stn1 STN1, CST complex subunit JBrowse link 1 267,281,786 267,315,714 RGD:11554173
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stn1 STN1, CST complex subunit JBrowse link 1 267,281,786 267,315,714 RGD:8554872
RGD:7240710
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:7240710
RGD:8554872
Coronary Artery Calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:7205482
CREST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:12910471
diffuse idiopathic skeletal hyperostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc29a1 solute carrier family 29 member 1 JBrowse link 9 17,784,468 17,799,008 RGD:13592920
familial hypocalciuric hypercalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
familial hypocalciuric hypercalcemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:7205436
RGD:8554872
RGD:11554173
RGD:7240710
RGD:7205499
RGD:7205440
RGD:1600616
familial hypocalciuric hypercalcemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gna11 G protein subunit alpha 11 JBrowse link 7 11,033,400 11,047,284 RGD:7240710
RGD:8554872
familial hypocalciuric hypercalcemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap2s1 adaptor related protein complex 2 subunit sigma 1 JBrowse link 1 78,671,238 78,682,847 RGD:7240710
RGD:8554872
RGD:11554173
Familial Hypophosphatemic Rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:11554173
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:11554173
RGD:8554872
Generalized Arterial Calcification of Infancy, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:7240710
Generalized Arterial Calcification of Infancy, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc6 ATP binding cassette subfamily C member 6 JBrowse link 1 101,954,786 102,013,252 RGD:7240710
RGD:8554872
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:7240710
RGD:8554872
RGD:9588626
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jam3 junctional adhesion molecule 3 JBrowse link 8 28,147,110 28,208,466 RGD:7240710
RGD:8554872
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242924
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242924
RGD:13592920
RGD:7242925
G Slc34a3 solute carrier family 34 member 3 JBrowse link 3 2,448,391 2,454,019 RGD:7240710
RGD:8554872
hypercalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:11554173
G Calcr calcitonin receptor JBrowse link 4 28,627,439 28,702,559 RGD:11554173
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:734698
RGD:8554872
RGD:11554173
RGD:7205445
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 JBrowse link 3 168,097,484 168,111,920 RGD:11554173
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:11554173
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242689
RGD:11554173
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:1599980
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:11554173
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:11554173
G Tnfsf11 TNF superfamily member 11 JBrowse link 15 60,482,527 60,512,704 RGD:11554173
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 JBrowse link 3 168,097,484 168,111,920 RGD:8554872
RGD:7240710
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:11554173
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
RGD:7240710
Hypercalciuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:7205502
RGD:7205445
RGD:7205675
RGD:7205666
G Cldn16 claudin 16 JBrowse link 11 77,683,942 77,703,232 RGD:8554872
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 JBrowse link 3 168,097,484 168,111,920 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:11554173
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242936
RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:4889914
Hypercalciuria, Absorptive, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy10 adenylate cyclase 10 JBrowse link 13 83,701,952 83,787,010 RGD:7240710
Hypercalciuria, Childhood Idiopathic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:11554173
Hypercalciuric Hypercalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
hyperphosphatemic familial tumoral calcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:8554872
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 3 52,174,469 52,212,395 RGD:7240710
RGD:8554872
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:8554872
HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:8554872
RGD:7240710
Hypocalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:11554173
RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:11554173
Hypophosphatemic Rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:8554872
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:11558021
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:10044208
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:8554872
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:7240710
RGD:8554872
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:6906930
RGD:8554872
RGD:7240710
RGD:6906931
Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit JBrowse link 16 68,860,018 68,866,718 RGD:8554872
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit JBrowse link 16 68,876,442 68,913,628 RGD:8554872
G Fnta farnesyltransferase, CAAX box, alpha JBrowse link 16 70,834,957 70,854,724 RGD:8554872
G Hook3 hook microtubule-tethering protein 3 JBrowse link 16 70,710,347 70,818,789 RGD:8554872
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:11554173
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:11554173
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:8554872
G Slc20a2 solute carrier family 20 member 2 JBrowse link 16 74,318,287 74,408,030 RGD:7240710
RGD:8554872
RGD:11554173
G Smim19 small integral membrane protein 19 JBrowse link 16 74,408,085 74,422,070 RGD:8554872
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:8554872
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:7240710
RGD:8554872
Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:7240710
RGD:8554872
Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xpr1 xenotropic and polytropic retrovirus receptor 1 JBrowse link 13 72,918,552 73,056,785 RGD:8554872
RGD:7240710
Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myorg myogenesis regulating glycosidase JBrowse link 5 57,873,404 57,882,008 RGD:8554872
RGD:7240710
Immunodeficiency 38, with Basal Ganglia Calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Isg15 ISG15 ubiquitin-like modifier JBrowse link 5 173,624,862 173,629,124 RGD:8554872
RGD:7240710
Infantile Hypercalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 JBrowse link 3 168,097,484 168,111,920 RGD:8554872
RGD:11554173
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:11554173
intestinal hypomagnesemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 JBrowse link 1 234,478,908 234,631,264 RGD:7240710
RGD:8554872
Kenny Caffey Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam111a family with sequence similarity 111, member A JBrowse link 1 229,003,778 229,019,532 RGD:7240710
RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:11554173
Keutel Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgp matrix Gla protein JBrowse link 4 170,856,783 170,860,105 RGD:1600783
RGD:8554872
RGD:11554173
RGD:7240710
Leukoencephalopathy Brain Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:7240710
RGD:8554872
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ammecr1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 JBrowse link X 114,129,829 114,233,013 RGD:8554872
RGD:7240710
RGD:11554173
G Rtl9 retrotransposon Gag like 9 JBrowse link X 114,367,028 114,379,646 RGD:8554872
G Tmem164 transmembrane protein 164 JBrowse link X 113,947,355 114,110,064 RGD:8554872
nephrocalcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase JBrowse link 9 100,281,339 100,291,292 RGD:8554872
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 JBrowse link 4 115,417,100 115,435,754 RGD:8554872
G Cldn16 claudin 16 JBrowse link 11 77,683,942 77,703,232 RGD:8554872
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:8554872
G Grhpr glyoxylate and hydroxypyruvate reductase JBrowse link 5 60,528,981 60,538,410 RGD:8554872
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242573
G Slc12a1 solute carrier family 12 member 1 JBrowse link 3 117,421,531 117,498,372 RGD:8554872
G Slc26a1 solute carrier family 26 member 1 JBrowse link 14 2,050,805 2,056,091 RGD:11554173
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242938
RGD:8554872
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:8554872
normophosphatemic familial tumoral calcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samd9 sterile alpha motif domain containing 9 JBrowse link 4 28,304,967 28,324,637 RGD:7240710
RGD:8554872
osteomalacia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7794797
G Mepe matrix extracellular phosphoglycoprotein JBrowse link 14 6,782,011 6,793,561 RGD:11554173
Primrose Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb20 zinc finger and BTB domain containing 20 JBrowse link 11 62,014,925 62,561,113 RGD:11554173
RGD:8554872
RGD:7240710
pseudo-TORCH syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ocln occludin JBrowse link 2 30,527,327 30,577,218 RGD:7240710
RGD:8554872
pseudohypoparathyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
RGD:8554872
RGD:11568048
RGD:11568047
RGD:11568042
Pseudohypoparathyroidism Type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:8554872
RGD:7240710
pseudohypoparathyroidism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
RGD:7240710
RGD:8554872
RGD:11568050
RGD:11568048
RGD:11568044
RGD:11568043
G Stx16 syntaxin 16 JBrowse link 3 172,154,739 172,183,699 RGD:8554872
RGD:7240710
pseudopseudohypoparathyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:7240710
RGD:8554872
RGD:11554173
pulmonary alveolar microlithiasis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc34a2 solute carrier family 34 member 2 JBrowse link 14 60,257,211 60,276,516 RGD:7240710
RGD:8554872
Rajab Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Farsb phenylalanyl-tRNA synthetase subunit beta JBrowse link 9 84,324,456 84,383,674 RGD:8554872
RGD:7240710
RGD:11554173
renal osteodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242687
rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:734698
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:1600874
RGD:8554872
RGD:11554173
RGD:734871
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 JBrowse link 1 184,060,521 184,106,604 RGD:13592920
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:13592920
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:11554173
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:1624354
RGD:8554872
RGD:11554173
SHORT Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:7240710
RGD:8554872
Singleton Merten Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:7240710
RGD:8554872
Singleton-Merten Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx58 DEXD/H-box helicase 58 JBrowse link 5 56,486,584 56,536,898 RGD:8554872
RGD:7240710
Tetany term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap5 A-kinase anchoring protein 5 JBrowse link 6 99,356,509 99,361,909 RGD:2313247
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 1 266,530,421 266,651,292 RGD:11554173
Tropical Calcific Pancreatitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spink1 serine peptidase inhibitor, Kazal type 1 JBrowse link 18 38,221,919 38,242,092 RGD:7240710
RGD:8554872
Vascular Calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:7243940
RGD:7245562
RGD:7243959
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:7248436
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:7248436
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:11554173
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:10403077
G Mgp matrix Gla protein JBrowse link 4 170,856,783 170,860,105 RGD:11554173
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:6893475
G Pla2g7 phospholipase A2 group VII JBrowse link 9 19,935,754 19,978,013 RGD:6482770
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242416
RGD:7242900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:7240710
RGD:8554872
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
G Trappc9 trafficking protein particle complex 9 JBrowse link 7 113,986,363 114,309,090 RGD:8554872
Vitamin D Hydroxylation-Deficient Rickets, Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 JBrowse link 1 184,060,521 184,106,604 RGD:7240710
RGD:8554872
Vitamin D-Dependent Rickets, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:7240710
RGD:13432060
RGD:13210792
RGD:13210780
RGD:13210778
RGD:8554872
RGD:8158074
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:7207229
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:11560488
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:7240710
RGD:8554872
RGD:7207229
RGD:11556248
RGD:11556247
RGD:11556246
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8554872
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Nutritional and Metabolic Diseases 4150
      disease of metabolism 4150
        calcium metabolism disease 149
          Decalcification, Pathologic + 0
          Hypercalciuria + 11
          Hypocalcemia + 13
          Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
          Meier Blumberg Imahorn Syndrome 0
          calcinosis + 119
          hypercalcemia + 17
          pseudohypoparathyroidism + 3
          rickets + 19
Path 2
Term Annotations click to browse term
  disease 14759
    Nutritional and Metabolic Diseases 4150
      disease of metabolism 4150
        acquired metabolic disease 2562
          mineral metabolism disease 295
            calcium metabolism disease 149
              Decalcification, Pathologic + 0
              Hypercalciuria + 11
              Hypocalcemia + 13
              Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
              Meier Blumberg Imahorn Syndrome 0
              calcinosis + 119
              hypercalcemia + 17
              pseudohypoparathyroidism + 3
              rickets + 19
paths to the root