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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hyperphosphatemia
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Accession:DOID:0050459 term browser browse the term
Definition:A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. (DO)
Synonyms:exact_synonym: GALNT3-RELATED CONDITION;   hyperphosphatemias
 primary_id: MESH:D054559
 xref: NCI:C113750


show annotations for term's descendants           Sort by:
hyperphosphatemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: GALNT3-related condition ClinVar PMID:15133511 PMID:20358599 PMID:25741868 PMID:28492532 NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231 		JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458 		JBrowse link
G PTH parathyroid hormone ISO associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12399635 PMID:23211335 PMID:23548309 RGD:7242565 RGD:7242693 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO protein:increased expression:kidney (mouse) RGD PMID:18835926 PMID:20418498 RGD:7242940 RGD:7243099 NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975 		JBrowse link
hyperphosphatemic familial tumoral calcinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Cortical hyperostosis with hyperphosphatemia | ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome ClinVar PMID:15133511 PMID:20358599 PMID:25741868 PMID:28492532 NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231 		JBrowse link
G KL klotho ISO ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome ClinVar NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,909,111...8,961,857
Ensembl chr12:9,122,447...9,192,371 		JBrowse link
G ACRBP acrosin binding protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,768,971...6,778,613
Ensembl chr12:6,685,963...6,695,344 		JBrowse link
G ACSM4 acyl-CoA synthetase medium chain family member 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,448,372...7,474,634
Ensembl chr12:7,613,474...7,637,536 		JBrowse link
G ADIPOR2 adiponectin receptor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251 		JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917 		JBrowse link
G AKAP3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,733,095...4,766,596
Ensembl chr12:4,655,004...4,677,651 		JBrowse link
G ANO2 anoctamin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,690,023...6,071,283
Ensembl chr12:5,609,541...5,987,900 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,777,734...7,793,960
Ensembl chr12:7,939,262...7,944,203 		JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,057,430...7,071,767
Ensembl chr12:6,978,576...6,990,580 		JBrowse link
G B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:522,973...635,373
Ensembl chr12:561,726...598,827 		JBrowse link
G C10H12orf57 chromosome 10 C12orf57 homolog ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,073,251...7,075,408
Ensembl chr12:6,978,576...6,990,580 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,224,675...7,239,524
Ensembl chr12:7,139,094...7,155,196 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614 		JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,178,064...8,186,206
Ensembl chr12:8,220,933...8,222,381 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826 		JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,906,894...2,030,991
Ensembl chr12:1,857,221...1,980,769 		JBrowse link
G CCDC77 coiled-coil domain containing 77 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:452,138...504,771
Ensembl chr12:443,382...474,011 		JBrowse link
G CCND2 cyclin D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551 		JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023 		JBrowse link
G CD163L1 CD163 molecule like 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,497,261...7,590,057
Ensembl chr12:7,656,113...7,749,646 		JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,575,104...6,582,127
Ensembl chr12:6,492,119...6,499,427 		JBrowse link
G CD4 CD4 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204 		JBrowse link
G CD9 CD9 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385 		JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,980,656...6,983,796
Ensembl chr12:6,890,095...6,895,364 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076 		JBrowse link
G CLEC4A C-type lectin domain family 4 member A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,242,240...8,257,860
Ensembl chr12:8,285,174...8,300,029 		JBrowse link
G CLEC4C C-type lectin domain family 4 member C ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,852,796...7,873,559
Ensembl chr12:8,012,508...8,030,370 		JBrowse link
G CLEC4D C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,599,654...8,608,494
Ensembl chr12:8,814,680...8,823,484 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,620,618...8,627,610 JBrowse link
G CLEC6A C-type lectin domain containing 6A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,537,766...8,560,736
Ensembl chr12:8,752,778...8,775,738 		JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,260,361...7,288,903
Ensembl chr12:7,175,951...7,204,526 		JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,856,119...6,863,999
Ensembl chr12:6,770,675...6,778,199 		JBrowse link
G CRACR2A calcium release activated channel regulator 2A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,729,241...3,875,715
Ensembl chr12:3,655,031...3,737,592 		JBrowse link
G DCP1B decapping mRNA 1B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,057,985...2,118,615
Ensembl chr12:2,007,406...2,065,141 		JBrowse link
G DPPA3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,834,298...7,841,064 JBrowse link
G DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,681,395...4,733,134
Ensembl chr12:4,604,241...4,653,762 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,102,619...7,108,594
Ensembl chr12:7,018,291...7,023,807 		JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342 		JBrowse link
G ERC1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,066,034...1,597,562
Ensembl chr12:1,027,967...1,545,431 		JBrowse link
G FAM90A1 family with sequence similarity 90 member A1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,343,013...8,346,624 JBrowse link
G FBXL14 F-box and leucine rich repeat protein 14 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,674,046...1,703,414
Ensembl chr12:1,626,802...1,655,056 		JBrowse link
G FERRY3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,597,513...4,657,700
Ensembl chr12:4,520,082...4,578,361 		JBrowse link
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000 		JBrowse link
G FGF6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,543,776...4,555,352
Ensembl chr12:4,466,975...4,478,459 		JBrowse link
G FKBP4 FKBP prolyl isomerase 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,915,017...2,924,423
Ensembl chr12:2,847,496...2,856,107 		JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,152,037...8,175,291
Ensembl chr12:8,194,519...8,217,778 		JBrowse link
G FOXM1 forkhead box M1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,978,400...2,999,077
Ensembl chr12:2,910,028...2,930,503 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 OMIM
ClinVar		 PMID:3839626 PMID:3998061 PMID:5899975 PMID:8338191 PMID:9536098 More... NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231 		JBrowse link
G GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,837,719...4,894,120
Ensembl chr12:4,758,570...4,810,085 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729 		JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,813,288...7,819,418
Ensembl chr12:7,972,907...7,979,815 		JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,971,854...6,979,214
Ensembl chr12:6,883,280...6,890,692 		JBrowse link
G GPR162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,952,556...6,958,414
Ensembl chr12:6,864,927...6,870,797 		JBrowse link
G IFFO1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,670,415...6,686,972
Ensembl chr12:6,588,975...6,605,262 		JBrowse link
G ING4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,782,402...6,795,035
Ensembl chr12:6,698,843...6,710,955 		JBrowse link
G IQSEC3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:128,587...236,302
Ensembl chr12:105,804...209,812 		JBrowse link
G ITFG2 integrin alpha FG-GAP repeat containing 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,933,227...2,980,509
Ensembl chr12:2,865,297...2,877,555 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,027,333...5,037,136
Ensembl chr12:4,950,938...4,952,425 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,165,057...5,168,307 JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,926,069...4,968,475
Ensembl chr12:4,847,510...4,849,099 		JBrowse link
G KDM5A lysine demethylase 5A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:342,555...452,161
Ensembl chr12:319,273...423,634 		JBrowse link
G KL klotho ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458 		JBrowse link
G KLRG1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:9,034,918...9,288,351
Ensembl chr12:9,305,401...9,326,513 		JBrowse link
G LAG3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,903,770...6,909,778
Ensembl chr12:6,817,507...6,823,047 		JBrowse link
G LPAR5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,749,957...6,767,221
Ensembl chr12:6,668,991...6,670,109 		JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,107,925...7,149,982
Ensembl chr12:7,024,015...7,065,945 		JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,033,989...7,043,704
Ensembl chr12:6,948,809...6,958,880 		JBrowse link
G LRTM2 leucine rich repeats and transmembrane domains 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,932,851...1,949,485
Ensembl chr12:1,882,930...1,899,407 		JBrowse link
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,514,432...6,521,966
Ensembl chr12:6,422,470...6,438,510 		JBrowse link
G M6PR mannose-6-phosphate receptor, cation dependent ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:9,025,394...9,034,768
Ensembl chr12:9,256,706...9,266,428 		JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,731,893...8,746,850
Ensembl chr12:8,944,872...8,961,876 		JBrowse link
G MLF2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,879,347...6,898,785
Ensembl chr12:6,793,045...6,798,715 		JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,622,334...6,623,502
Ensembl chr12:6,539,516...6,540,959 		JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,913,037...7,919,715 JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,888,876...7,897,769 JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,623,568...6,662,741
Ensembl chr12:6,540,750...6,580,206 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,766,608...4,811,871
Ensembl chr12:4,687,250...4,725,669 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,201,908...8,217,043
Ensembl chr12:8,243,785...8,282,647 		JBrowse link
G NINJ2 ninjurin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:635,373...737,252
Ensembl chr12:601,210...699,663 		JBrowse link
G NOP2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,687,763...6,699,234
Ensembl chr12:6,606,036...6,617,260 		JBrowse link
G NRIP2 nuclear receptor interacting protein 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,945,844...2,956,155
Ensembl chr12:2,879,690...2,887,722 		JBrowse link
G NTF3 neurotrophin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,551,734...5,615,981
Ensembl chr12:5,530,508...5,533,989 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,960,193...6,971,691
Ensembl chr12:6,872,035...6,883,187 		JBrowse link
G PARP11 poly(ADP-ribose) polymerase family member 11 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,928,474...3,992,713
Ensembl chr12:3,857,256...3,879,242 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815 		JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,097,073...7,102,474
Ensembl chr12:7,013,195...7,018,053 		JBrowse link
G PHC1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,999,018...9,025,900
Ensembl chr12:9,231,394...9,257,806 		JBrowse link
G PIANP PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,824,377...6,832,971
Ensembl chr12:6,742,251...6,748,741 		JBrowse link
G PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,438,815...6,457,356
Ensembl chr12:6,356,211...6,373,988 		JBrowse link
G PRMT8 protein arginine methyltransferase 8 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,614,041...3,710,411
Ensembl chr12:3,429,458...3,634,507 		JBrowse link
G PTMS parathymosin ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,897,502...6,902,257
Ensembl chr12:6,814,264...6,815,101 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830 		JBrowse link
G RAD51AP1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,657,972...4,679,232
Ensembl chr12:4,578,621...4,599,879 		JBrowse link
G RAD52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:986,372...1,066,708
Ensembl chr12:946,825...985,668 		JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,253,922...7,261,145
Ensembl chr12:7,169,592...7,175,800 		JBrowse link
G RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,999,089...3,011,911
Ensembl chr12:2,930,957...2,943,419 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,752,509...8,869,226
Ensembl chr12:8,999,423...9,077,179 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,475,723...6,506,443 JBrowse link
G SLC2A14 solute carrier family 2 member 14 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,936,348...8,014,318
Ensembl chr12:8,094,327...8,113,460 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,045,058...8,062,116
Ensembl chr12:8,408,457...8,423,466 		JBrowse link
G SLC6A12 solute carrier family 6 member 12 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:247,905...274,518
Ensembl chr12:224,566...249,202 		JBrowse link
G SLC6A13 solute carrier family 6 member 13 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:279,434...334,226
Ensembl chr12:255,141...296,926 		JBrowse link
G SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,002,783...7,005,365
Ensembl chr12:6,914,159...6,916,554 		JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,582,266...6,592,762
Ensembl chr12:6,499,429...6,509,844 		JBrowse link
G TEAD4 TEA domain transcription factor 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,079,916...3,161,768
Ensembl chr12:3,011,544...3,092,022 		JBrowse link
G TEX52 testis expressed 52 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,969,646...2,978,270
Ensembl chr12:2,901,560...2,909,584 		JBrowse link
G TIGAR TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,429,945...4,462,142
Ensembl chr12:4,353,272...4,385,380 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612 		JBrowse link
G TSPAN9 tetraspanin 9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,190,897...3,410,042 JBrowse link
G TULP3 TUB like protein 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,012,890...3,061,831
Ensembl chr12:2,944,769...2,993,278 		JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,983,941...6,998,469
Ensembl chr12:6,895,416...6,909,936 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,592,688...6,601,317
Ensembl chr12:6,509,762...6,518,459 		JBrowse link
G VWF von Willebrand factor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:825,659...985,016
Ensembl chr12:791,153...944,602 		JBrowse link
G WNT5B Wnt family member 5B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,633,987...1,757,431
Ensembl chr12:1,691,097...1,708,351 		JBrowse link
G ZNF384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,798,264...6,821,705
Ensembl chr12:6,714,248...6,738,018 		JBrowse link
G ZNF705A zinc finger protein 705A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 8:11,570,038...11,577,621 JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2 OMIM
ClinVar		 PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 More... NCBI chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KL klotho ISO ClinVar Annotator: match by term: KL-related condition | ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17710231 PMID:25741868 PMID:28492532 More... NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    Nutritional and Metabolic Diseases 7496
      disease of metabolism 7496
        phosphorus metabolism disease 210
          hyperphosphatemia 121
            Hyperphosphatemia, Polyuria, and Seizures 0
            hyperphosphatemic familial tumoral calcinosis + 119
Path 2
Term Annotations click to browse term
  disease 15833
    Nutritional and Metabolic Diseases 7496
      disease of metabolism 7496
        acquired metabolic disease 2249
          mineral metabolism disease 950
            phosphorus metabolism disease 210
              hyperphosphatemia 121
                Hyperphosphatemia, Polyuria, and Seizures 0
                hyperphosphatemic familial tumoral calcinosis + 119
paths to the root