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ONTOLOGY REPORT - ANNOTATIONS


Term:mineral metabolism disease
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Accession:DOID:0050032 term browser browse the term
Definition:An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO)
Synonyms:primary_id: RDO:9003951
For additional species annotation, visit the Alliance of Genome Resources.


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aceruloplasminemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:7240710
RGD:8554872
RGD:11554173
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:8554872
G Slc40a1 solute carrier family 40 member 1 JBrowse link 9 52,819,451 52,830,461 RGD:11554173
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
Anemia, Hypochromic Microcytic, with Iron Overload term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc11a2 solute carrier family 11 member 2 JBrowse link 7 142,025,812 142,062,892 RGD:8554872
RGD:7240710
RGD:11554173
G Steap3 STEAP3 metalloreductase JBrowse link 13 36,257,220 36,274,144 RGD:11554173
Anemia, Hypochromic Microcytic, with Iron Overload 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Steap3 STEAP3 metalloreductase JBrowse link 13 36,257,220 36,274,144 RGD:7240710
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
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo1 piezo-type mechanosensitive ion channel component 1 JBrowse link 19 55,305,494 55,367,680 RGD:7240710
RGD:8554872
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 Hypophosphatemia 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:1303356
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
fetal erythroblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ermap erythroblast membrane-associated protein JBrowse link 5 138,227,168 138,240,509 RGD:8554872
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11100009
G Slc29a1 solute carrier family 29 member 1 JBrowse link 9 17,784,468 17,799,008 RGD:8554872
Finnish Lethal Neonatal Metabolic Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
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
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:7240710
RGD:8554872
hemochromatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akr1d1 aldo-keto reductase family 1, member D1 JBrowse link 4 65,110,706 65,143,930 RGD:11554173
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:12904688
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:11035246
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:13592920
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:11554173
G Bmp6 bone morphogenetic protein 6 JBrowse link 17 26,955,142 27,112,820 RGD:11554173
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:1599358
RGD:8554872
RGD:11554173
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:7207252
RGD:8554872
RGD:11554173
RGD:10755540
RGD:8694411
RGD:8694372
G Hjv hemojuvelin BMP co-receptor JBrowse link 2 198,655,437 198,659,318 RGD:1599478
RGD:8554872
RGD:11554173
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:13592920
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:11554173
G Slc11a2 solute carrier family 11 member 2 JBrowse link 7 142,025,812 142,062,892 RGD:11554173
G Slc40a1 solute carrier family 40 member 1 JBrowse link 9 52,819,451 52,830,461 RGD:11554173
RGD:8554872
G Tfr2 transferrin receptor 2 JBrowse link 12 22,177,382 22,194,330 RGD:1599386
RGD:8554872
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
RGD:12904656
RGD:12904050
hemochromatosis type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:7240710
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:8554872
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:7240710
RGD:8554872
G Hjv hemojuvelin BMP co-receptor JBrowse link 2 198,655,437 198,659,318 RGD:8554872
G Tfr2 transferrin receptor 2 JBrowse link 12 22,177,382 22,194,330 RGD:8554872
hemochromatosis type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:8554872
G Hjv hemojuvelin BMP co-receptor JBrowse link 2 198,655,437 198,659,318 RGD:8554872
RGD:11554173
hemochromatosis type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd34a ankyrin repeat domain 34A JBrowse link 2 198,720,277 198,725,155 RGD:8554872
G Hjv hemojuvelin BMP co-receptor JBrowse link 2 198,655,437 198,659,318 RGD:8554872
RGD:7240710
RGD:13592920
G Polr3gl RNA polymerase III subunit G like JBrowse link 2 198,698,044 198,719,609 RGD:8554872
G Txnip thioredoxin interacting protein JBrowse link 2 198,683,168 198,686,971 RGD:8554872
hemochromatosis type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:7240710
RGD:8554872
hemochromatosis type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfr2 transferrin receptor 2 JBrowse link 12 22,177,382 22,194,330 RGD:7240710
RGD:8554872
hemochromatosis type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc40a1 solute carrier family 40 member 1 JBrowse link 9 52,819,451 52,830,461 RGD:7240710
RGD:8554872
hemochromatosis type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fth1 ferritin heavy chain 1 JBrowse link 1 226,030,940 226,033,228 RGD:7240710
RGD:8554872
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
hemosiderosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:1599626
Hemosiderosis, Systemic, due to Aceruloplasminemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:8554872
Hereditary Hyperferritinemia with Congenital Cataracts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:1598966
RGD:8554872
RGD:7240710
RGD:5509864
G Gys1 glycogen synthase 1 JBrowse link 1 101,427,195 101,447,092 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
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11036098
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link 18 61,758,754 62,013,194 RGD:11554173
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
G Ctsa cathepsin A JBrowse link 3 161,298,750 161,304,627 RGD:8554872
G Dnah14 dynein axonemal heavy chain 14 JBrowse link 13
13
99,886,373
101,936,210
100,072,674
101,973,640
RGD:8554872
G Fzd6 frizzled class receptor 6 JBrowse link 7 77,898,329 77,931,034 RGD:8554872
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link 6 24,770,308 24,985,711 RGD:8554872
G Gusb glucuronidase, beta JBrowse link 12 30,202,066 30,215,583 RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:8554872
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C JBrowse link 13 79,886,832 79,889,305 RGD:8554872
G RGD1309106 similar to hypothetical protein JBrowse link 13 79,856,479 79,901,830 RGD:8554872
G Sftpa1 surfactant protein A1 JBrowse link 16 18,716,019 18,719,404 RGD:4143453
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link 16 74,680,621 74,712,368 RGD:8554872
G Ubn1 ubinuclein 1 JBrowse link 10 10,690,224 10,725,655 RGD:8554872
HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ephb4 EPH receptor B4 JBrowse link 12 22,393,338 22,418,332 RGD:8554872
RGD:7240710
RGD:11554173
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:8554872
RGD:7240710
RGD:11554173
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
Hyperphosphatasia with Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgap3 post-GPI attachment to proteins 3 JBrowse link 10 86,343,058 86,356,146 RGD:11554173
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O JBrowse link 5 58,461,055 58,470,699 RGD:8554872
RGD:11554173
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V JBrowse link 5 151,886,132 151,899,024 RGD:8554872
RGD:11554173
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W JBrowse link 10 72,194,774 72,198,415 RGD:11554173
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y JBrowse link 8 23,167,974 23,170,215 RGD:11554173
Hyperphosphatasia with Mental Retardation Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B JBrowse link 8 79,691,407 79,715,284 RGD:8554872
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V JBrowse link 5 151,886,132 151,899,024 RGD:7240710
RGD:8554872
Hyperphosphatasia with Mental Retardation Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef39 Rho guanine nucleotide exchange factor 39 JBrowse link 5 58,998,209 59,001,779 RGD:8554872
G Arid3c AT-rich interaction domain 3C JBrowse link 5 58,107,182 58,114,632 RGD:8554872
G Car9 carbonic anhydrase 9 JBrowse link 5 59,008,277 59,015,535 RGD:8554872
G Ccdc107 coiled-coil domain containing 107 JBrowse link 5 58,995,211 58,998,620 RGD:8554872
G Ccl19 C-C motif chemokine ligand 19 JBrowse link 5 58,181,025 58,182,969 RGD:8554872
G Ccl21 C-C motif chemokine ligand 21 JBrowse link 5 58,197,678 58,198,782 RGD:8554872
G Ccl27 C-C motif chemokine ligand 27 JBrowse link 5 58,159,066 58,166,182 RGD:8554872
G Cd72 Cd72 molecule JBrowse link 5 58,943,021 58,950,373 RGD:8554872
G Cntfr ciliary neurotrophic factor receptor JBrowse link 5 58,041,114 58,078,687 RGD:8554872
G Creb3 cAMP responsive element binding protein 3 JBrowse link 5 59,063,532 59,068,196 RGD:8554872
G Dctn3 dynactin subunit 3 JBrowse link 5 58,098,706 58,106,706 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:8554872
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 JBrowse link 5 58,393,197 58,402,162 RGD:8554872
G Enho energy homeostasis associated JBrowse link 5 58,018,039 58,019,836 RGD:8554872
G Fam166b family with sequence similarity 166, member B JBrowse link 5 58,883,064 58,884,136 RGD:8554872
G Fam205a family with sequence similarity 205, member A JBrowse link 5 58,282,202 58,303,075 RGD:8554872
G Fam214b family with sequence similarity 214, member B JBrowse link 5 58,477,894 58,484,900 RGD:8554872
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:8554872
G Il11ra1 interleukin 11 receptor subunit alpha 1 JBrowse link 5 58,149,150 58,159,072 RGD:8554872
G LOC100360821 rCG55159-like JBrowse link 5 58,416,058 58,421,991 RGD:8554872
G Msmp microseminoprotein, prostate associated RGD:8554872
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
G Phf24 PHD finger protein 24 JBrowse link 5 58,359,744 58,387,446 RGD:8554872
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O JBrowse link 5 58,461,055 58,470,699 RGD:7240710
RGD:8554872
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 JBrowse link 5 59,080,290 59,088,777 RGD:8554872
G Rpp25l ribonuclease P/MRP subunit p25 like JBrowse link 5 58,096,037 58,097,577 RGD:8554872
G Rusc2 RUN and SH3 domain containing 2 JBrowse link 5 58,860,444 58,883,152 RGD:8554872
G Sigmar1 sigma non-opioid intracellular receptor 1 JBrowse link 5 58,121,824 58,124,687 RGD:8554872
G Sit1 signaling threshold regulating transmembrane adaptor 1 JBrowse link 5 58,985,912 58,987,538 RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
G Stoml2 stomatin like 2 JBrowse link 5 58,472,561 58,476,158 RGD:8554872
G Tesk1 testis associated actin remodelling kinase 1 JBrowse link 5 58,937,615 58,943,358 RGD:8554872
G Tln1 talin 1 JBrowse link 5 59,033,635 59,063,592 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Unc13b unc-13 homolog B JBrowse link 5 58,505,449 58,714,396 RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
Hyperphosphatasia with Mental Retardation Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgap2 post-GPI attachment to proteins 2 JBrowse link 1 167,309,021 167,335,550 RGD:7240710
RGD:8554872
Hyperphosphatasia with Mental Retardation Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgap3 post-GPI attachment to proteins 3 JBrowse link 10 86,343,058 86,356,146 RGD:7240710
RGD:8554872
Hyperphosphatasia with Mental Retardation Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aatf apoptosis antagonizing transcription factor JBrowse link 10 71,744,648 71,837,851 RGD:8554872
G Acaca acetyl-CoA carboxylase alpha JBrowse link 10 71,519,392 71,719,910 RGD:8554872
G Dhrs11 dehydrogenase/reductase 11 JBrowse link 10 72,144,042 72,153,496 RGD:8554872
G Ggnbp2 gametogenetin binding protein 2 JBrowse link 10 72,156,729 72,188,834 RGD:8554872
G Lhx1 LIM homeobox 1 JBrowse link 10 71,843,991 71,849,293 RGD:8554872
G Mrm1 mitochondrial rRNA methyltransferase 1 JBrowse link 10 72,136,241 72,143,075 RGD:8554872
G Myo19 myosin XIX JBrowse link 10 72,198,475 72,227,892 RGD:8554872
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W JBrowse link 10 72,194,774 72,198,415 RGD:8554872
RGD:7240710
Hyperphosphatasia with Mental Retardation Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y JBrowse link 8 23,167,974 23,170,215 RGD:8554872
RGD:7240710
G Pyurf PIGY upstream reading frame JBrowse link 4 88,584,242 88,587,877 RGD:8554872
hyperphosphatemia 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:11554173
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 3 52,174,469 52,212,395 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:7242565
RGD:11554173
RGD:7242693
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242940
RGD:7243099
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
hypochromic microcytic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irx5 iroquois homeobox 5 JBrowse link 19 16,415,813 16,421,088 RGD:11554173
G Slc11a2 solute carrier family 11 member 2 JBrowse link 7 142,025,812 142,062,892 RGD:13592920
G Steap3 STEAP3 metalloreductase JBrowse link 13 36,257,220 36,274,144 RGD:13592920
G Tf transferrin JBrowse link 8 111,694,570 111,721,275 RGD:11554173
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11062089
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450526
hypokalemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb2 adrenoceptor beta 2 JBrowse link 18 57,513,792 57,515,834 RGD:11554173
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11554173
G Akr1b1 aldo-keto reductase family 1 member B JBrowse link 4 61,706,866 61,720,959 RGD:1626084
G Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit JBrowse link 15 36,561,306 36,590,171 RGD:13838663
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Nppb natriuretic peptide B JBrowse link 5 164,796,176 164,797,538 RGD:11554173
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Rhcg Rh family, C glycoprotein JBrowse link 1 141,325,854 141,349,881 RGD:9850155
G Sst somatostatin JBrowse link 11 80,358,172 80,359,449 RGD:11554173
hypophosphatemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 JBrowse link 11 65,022,100 65,058,546 RGD:11554173
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242939
RGD:11554173
RGD:7243098
RGD:7243007
RGD:7242942
Hypophosphatemic Nephrolithiasis/Osteoporosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:8554872
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
hypophosphatemic nephrolithiasis/osteoporosis 1 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:7240710
RGD:8554872
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a3r1 SLC9A3 regulator 1 JBrowse link 10 103,713,045 103,730,145 RGD:7240710
RGD:8554872
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
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:7240710
RGD:8554872
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
iron deficiency anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:2301196
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:11252172
RGD:2315589
G C1qa complement C1q A chain JBrowse link 5 155,261,254 155,264,101 RGD:2301196
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:5131463
G Cst3 cystatin C JBrowse link 3 143,219,671 143,223,544 RGD:2301196
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:2301196
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11352760
RGD:11352819
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:11059505
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11041606
RGD:11041634
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:11041798
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11062011
G Ireb2 iron responsive element binding protein 2 JBrowse link 8 59,450,974 59,503,634 RGD:12904038
RGD:12910699
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:11530068
G Kat5 lysine acetyltransferase 5 JBrowse link 1 220,967,795 220,974,596 RGD:2301196
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552586
RGD:11553834
G Slc11a2 solute carrier family 11 member 2 JBrowse link 7 142,025,812 142,062,892 RGD:2311409
RGD:11554173
G Slc4a1 solute carrier family 4 member 1 JBrowse link 10 90,296,144 90,312,401 RGD:10450513
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Tf transferrin JBrowse link 8 111,694,570 111,721,275 RGD:1601513
RGD:8554872
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11062096
RGD:11554173
RGD:11062105
RGD:11062104
G Tmprss6 transmembrane serine protease 6 JBrowse link 7 119,659,323 119,689,953 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450563
iron metabolism disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:2301196
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:727562
RGD:11554173
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:11554173
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Mon1a MON1 homolog A, secretory trafficking associated JBrowse link 8 116,657,345 116,682,172 RGD:11554173
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11554173
Iron Overload term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 39,553,903 39,603,326 RGD:13782085
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8554872
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 JBrowse link 1 259,692,020 259,818,922 RGD:9685486
G Epas1 endothelial PAS domain protein 1 JBrowse link 6 10,306,508 10,385,239 RGD:11041571
G Fth1 ferritin heavy chain 1 JBrowse link 1 226,030,940 226,033,228 RGD:737708
RGD:8554872
RGD:11554173
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11352779
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10755320
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10755320
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11041610
RGD:11554173
RGD:11041720
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:10755536
RGD:10755542
RGD:10755541
G Ireb2 iron responsive element binding protein 2 JBrowse link 8 59,450,974 59,503,634 RGD:6893272
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:13800907
G Slc11a2 solute carrier family 11 member 2 JBrowse link 7 142,025,812 142,062,892 RGD:1580431
G Slc40a1 solute carrier family 40 member 1 JBrowse link 9 52,819,451 52,830,461 RGD:11554173
G Tf transferrin JBrowse link 8 111,694,570 111,721,275 RGD:11554173
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
kernicterus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 9 95,295,701 95,302,822 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
L-Ferritin Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:7240710
RGD:8554872
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
microcytic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmprss6 transmembrane serine protease 6 JBrowse link 7 119,659,323 119,689,953 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
neurodegeneration with brain iron accumulation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine O-acetyltransferase JBrowse link 3 8,967,984 8,981,959 RGD:8554872
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:8554872
RGD:11554173
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:8554872
G Reps1 RALBP1 associated Eps domain containing 1 JBrowse link 1 13,262,049 13,298,347 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:11554173
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:7240710
RGD:8554872
RGD:12910703
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:7240710
RGD:8554872
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:5509859
RGD:8554872
RGD:7240710
RGD:5509861
RGD:5509860
G Gys1 glycogen synthase 1 JBrowse link 1 101,427,195 101,447,092 RGD:8554872
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC690000 similar to CG3740-PA JBrowse link 1 94,572,714 94,587,842 RGD:7240710
RGD:8554872
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:7240710
RGD:8554872
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coasy Coenzyme A synthase JBrowse link 10 88,992,413 88,996,677 RGD:7240710
RGD:8554872
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reps1 RALBP1 associated Eps domain containing 1 JBrowse link 1 13,262,049 13,298,347 RGD:8554872
RGD:7240710
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine O-acetyltransferase JBrowse link 3 8,967,984 8,981,959 RGD:8554872
RGD:7240710
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
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:7240710
RGD:8554872
RGD:11554173
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:6480098
G Sncb synuclein, beta JBrowse link 17 10,384,472 10,392,776 RGD:6480098
G Sncg synuclein, gamma JBrowse link 16 10,722,110 10,726,648 RGD:6480098
Phosphaturia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:8655928
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
sideroblastic anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11035244
RGD:11035243
RGD:11035241
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 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
        mineral metabolism disease 295
          calcium metabolism disease + 149
          hypokalemia + 10
          iron metabolism disease + 91
          phosphorus metabolism disease + 72
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
            hypokalemia + 10
            iron metabolism disease + 91
            phosphorus metabolism disease + 72
paths to the root