ONTOLOGY REPORT - ANNOTATIONS


Term:metal metabolism disorder
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Accession:DOID:896 term browser browse the term
Definition:Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero.
Synonyms:exact_synonym: Metal Metabolism, Inborn Error;   Metal Metabolism, Inborn Errors;   inborn metal metabolism disorder
 primary_id: MESH:D008664;   RDO:0001122
For additional species annotation, visit the Alliance of Genome Resources.


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metal metabolism disorder 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:1599669
acrodermatitis enteropathica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:1599005
RGD:8554872
RGD:11554173
RGD:7240710
adult hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 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
atransferrinemia 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:11041615
G Tf transferrin JBrowse link 8 111,694,570 111,721,275 RGD:7240710
RGD:8554872
RGD:11554173
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
childhood hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:7240710
RGD:8554872
Copper-Overload Cirrhosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:11554173
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:11554173
G Commd1 copper metabolism domain containing 1 JBrowse link 14 107,664,321 107,759,974 RGD:11554173
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:11554173
G Krt19 keratin 19 JBrowse link 10 88,055,843 88,060,560 RGD:11554173
G Krt7 keratin 7 JBrowse link 7 143,059,731 143,075,907 RGD:11554173
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:11554173
G Mki67 marker of proliferation Ki-67 JBrowse link 1 207,993,895 208,020,454 RGD:11554173
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:11554173
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 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
familial periodic paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj2 potassium voltage-gated channel subfamily J member 2 JBrowse link 10 99,429,337 99,442,520 RGD:1580802
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
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
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
hyperkalemic periodic paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1s calcium voltage-gated channel subunit alpha1 S JBrowse link 13 52,889,570 52,964,558 RGD:8554872
G Cep95 centrosomal protein 95 JBrowse link 10 94,988,362 95,017,774 RGD:8554872
G Ddx5 DEAD-box helicase 5 JBrowse link 10 94,979,759 94,988,461 RGD:8554872
G Ern1 endoplasmic reticulum to nucleus signaling 1 JBrowse link 10 94,588,555 94,682,072 RGD:8554872
G Icam2 intercellular adhesion molecule 2 JBrowse link 10 94,569,889 94,581,218 RGD:8554872
G Lrrc37a leucine rich repeat containing 37A JBrowse link 10 91,548,704 91,581,537 RGD:8554872
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:8554872
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:8554872
G Prr29 proline rich 29 JBrowse link 10 94,565,498 94,569,926 RGD:8554872
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:7240710
RGD:8554872
RGD:13208536
RGD:11554173
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 JBrowse link 10 95,018,050 95,118,107 RGD:8554872
G Tex2 testis expressed 2 JBrowse link 10 94,697,962 94,807,544 RGD:8554872
hypokalemic periodic paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1s calcium voltage-gated channel subunit alpha1 S JBrowse link 13 52,889,570 52,964,558 RGD:1300372
RGD:8554872
RGD:11554173
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 JBrowse link 1 165,189,934 165,196,949 RGD:1600040
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:8554872
RGD:11554173
Hypokalemic Periodic Paralysis, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1s calcium voltage-gated channel subunit alpha1 S JBrowse link 13 52,889,570 52,964,558 RGD:7240710
RGD:8554872
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:8554872
RGD:11554173
Hypokalemic Periodic Paralysis, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:7240710
RGD:8554872
RGD:13208531
RGD:13208529
hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:1599076
RGD:8554872
RGD:11554173
G P2rx7 purinergic receptor P2X 7 JBrowse link 12 39,353,613 39,396,042 RGD:11554173
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
infantile hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:7240710
RGD:8554872
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, Type 2 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
Menkes disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:734621
RGD:8554872
RGD:12879459
RGD:11554173
RGD:11340200
RGD:11252186
RGD:11252183
RGD:11252182
RGD:7240710
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581895
RGD:13592920
molybdenum cofactor deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Daam2 dishevelled associated activator of morphogenesis 2 JBrowse link 9 13,444,883 13,493,154 RGD:8554872
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:8554872
G Mocs1 molybdenum cofactor synthesis 1 JBrowse link 9 13,493,705 13,513,972 RGD:11554173
RGD:8554872
G Mocs2 molybdenum cofactor synthesis 2 JBrowse link 2 46,980,964 46,992,886 RGD:8554872
molybdenum cofactor deficiency type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:8554872
G Mocs1 molybdenum cofactor synthesis 1 JBrowse link 9 13,493,705 13,513,972 RGD:1558665
RGD:8554872
RGD:7240710
RGD:1600439
RGD:1624402
G Mocs2 molybdenum cofactor synthesis 2 JBrowse link 2 46,980,964 46,992,886 RGD:8554872
molybdenum cofactor deficiency type B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mocs2 molybdenum cofactor synthesis 2 JBrowse link 2 46,980,964 46,992,886 RGD:7240710
RGD:8554872
molybdenum cofactor deficiency type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:8554872
RGD:7240710
Normokalemic Periodic Paralysis, Potassium-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:8554872
Odontohypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:8554872
Perinatal Lethal Hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:8554872
primary hypomagnesemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn16 claudin 16 JBrowse link 11 77,683,942 77,703,232 RGD:8554872
RGD:11554173
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:6906911
G Fxyd2 FXYD domain-containing ion transport regulator 2 JBrowse link 8 49,710,334 49,717,492 RGD:11554173
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 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:8554872
RGD:7240710
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
Pseudohypoparathyroidism Type IC 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
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
renal hypomagnesemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 1 266,530,421 266,651,292 RGD:8554872
G Fxyd2 FXYD domain-containing ion transport regulator 2 JBrowse link 8 49,710,334 49,717,492 RGD:1598986
RGD:8554872
RGD:7240710
renal hypomagnesemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn16 claudin 16 JBrowse link 11 77,683,942 77,703,232 RGD:7240710
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:8554872
renal hypomagnesemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:7240710
RGD:8554872
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:7240710
RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:8554872
renal hypomagnesemia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 1 266,530,421 266,651,292 RGD:7240710
RGD:8554872
Thyrotoxic Periodic Paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1s calcium voltage-gated channel subunit alpha1 S JBrowse link 13 52,889,570 52,964,558 RGD:8554872
RGD:7240710
G RT1-CE13 RT1 class I, locus CE13 RGD:8655904
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 Dmd dystrophin JBrowse link X 51,149,358 53,519,271 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
Wilson disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A2m alpha-2-macroglobulin JBrowse link 4 154,309,426 154,359,138 RGD:11554173
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:11554173
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:8554872
G Anks1b ankyrin repeat and sterile alpha motif domain containing 1B JBrowse link 7 30,507,135 31,684,604 RGD:11554173
G Anxa5 annexin A5 JBrowse link 2 123,162,477 123,194,730 RGD:10053726
RGD:11554173
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11554173
G Asmt acetylserotonin O-methyltransferase JBrowse link 12 18,521,383 18,527,036 RGD:11554173
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:11340212
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:2292672
RGD:8554872
RGD:11554173
RGD:7240710
RGD:734622
G Atp7bhts ATPase copper transporting beta; hepatitis RGD:631728
RGD:2292672
G Bhmt betaine-homocysteine S-methyltransferase JBrowse link 2 23,236,573 23,256,158 RGD:11554173
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Camk2a calcium/calmodulin-dependent protein kinase II alpha JBrowse link 18 56,193,978 56,295,869 RGD:11554173
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:2307322
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11554173
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase JBrowse link 2 27,480,224 27,500,654 RGD:2292672
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:11554173
G Loxl2 lysyl oxidase-like 2 JBrowse link 15 51,276,022 51,365,238 RGD:11554173
G Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 JBrowse link 19 24,701,067 24,705,405 RGD:11554173
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:11554173
G Ppp3cb protein phosphatase 3 catalytic subunit beta JBrowse link 15 4,209,702 4,236,895 RGD:11554173
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:11554173
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 JBrowse link 1 226,543,671 226,572,414 RGD:11554173
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:1601345
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:11554173
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
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 14919
    Nutritional and Metabolic Diseases 4263
      disease of metabolism 4263
        inherited metabolic disorder 1820
          metal metabolism disorder 123
            Familial Hypophosphatemia + 16
            Hyperzincemia and Hypercalprotectinemia 0
            Hyperzincemia with Functional Zinc Depletion 0
            Idiopathic Copper Toxicosis 0
            Menkes disease + 4
            Wilson disease + 50
            Zinc, Elevated Plasma 0
            acrodermatitis enteropathica 1
            atransferrinemia 2
            autosomal dominant hypocalcemia + 9
            familial periodic paralysis + 16
            hemochromatosis + 20
            hypophosphatasia + 2
            molybdenum cofactor deficiency + 5
            primary hypomagnesemia + 6
            pseudohypoparathyroidism + 3
Path 2
Term Annotations click to browse term
  disease 14919
    Developmental Diseases 7761
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7082
        genetic disease 6388
          inherited metabolic disorder 1820
            metal metabolism disorder 123
              Familial Hypophosphatemia + 16
              Hyperzincemia and Hypercalprotectinemia 0
              Hyperzincemia with Functional Zinc Depletion 0
              Idiopathic Copper Toxicosis 0
              Menkes disease + 4
              Wilson disease + 50
              Zinc, Elevated Plasma 0
              acrodermatitis enteropathica 1
              atransferrinemia 2
              autosomal dominant hypocalcemia + 9
              familial periodic paralysis + 16
              hemochromatosis + 20
              hypophosphatasia + 2
              molybdenum cofactor deficiency + 5
              primary hypomagnesemia + 6
              pseudohypoparathyroidism + 3
paths to the root

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