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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:Hyperphosphatemic Familial Tumoral Calcinosis 1
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Accession:DOID:9007992 term browser browse the term
Synonyms:exact_synonym: HFTC1
 primary_id: OMIM:211900


show annotations for term's descendants           Sort by:
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp proacrosin binding protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,026,890...125,040,228
Ensembl chr 6:125,026,652...125,040,230 		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 chr 7:119,289,249...119,313,789
Ensembl chr 7:119,289,249...119,313,788 		JBrowse link
G Adipor2 adiponectin receptor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:119,330,111...119,394,489
Ensembl chr 6:119,330,111...119,394,665 		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 chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		JBrowse link
G Akap3 A kinase anchor protein 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:126,830,061...126,851,271
Ensembl chr 6:126,830,061...126,851,271 		JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,667,382...126,017,115
Ensembl chr 6:125,667,382...126,017,089 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:122,554,755...122,580,068
Ensembl chr 6:122,554,751...122,579,403 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,719,507...124,733,450
Ensembl chr 6:124,719,507...124,733,487
Ensembl chr 6:124,719,507...124,733,487 		JBrowse link
G B4galnt3 beta-1,4-N-acetyl-galactosaminyl transferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:120,177,714...120,271,879
Ensembl chr 6:120,180,034...120,271,520 		JBrowse link
G C1rb complement component 1, r subcomponent B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130 		JBrowse link
G C1rl complement component 1, r subcomponent-like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,470,072...124,487,602
Ensembl chr 6:124,470,072...124,487,602 		JBrowse link
G C1s1 complement component 1, s subcomponent 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,507,303...124,519,340
Ensembl chr 6:124,507,304...124,519,318 		JBrowse link
G C3ar1 complement component 3a receptor 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:122,824,099...122,833,116
Ensembl chr 6:122,824,097...122,833,120 		JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851 		JBrowse link
G Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:119,213,435...119,329,368
Ensembl chr 6:119,213,487...119,329,368 		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 chr 6:120,301,283...120,341,330
Ensembl chr 6:120,301,284...120,341,335 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
G Cd163 CD163 antigen ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486 		JBrowse link
G Cd27 CD27 antigen ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,209,583...125,214,014
Ensembl chr 6:125,209,585...125,213,973 		JBrowse link
G Cd4 CD4 antigen ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184 		JBrowse link
G Cd9 CD9 antigen ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,437,229...125,471,723
Ensembl chr 6:125,437,229...125,471,754 		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 chr 6:124,806,533...124,810,664
Ensembl chr 6:124,806,510...124,810,664 		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 chr 6:125,073,144...125,107,554
Ensembl chr 6:125,072,944...125,107,554 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member a1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:122,898,807...122,911,578
Ensembl chr 6:122,898,807...122,911,578 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member a3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:122,929,474...122,946,837
Ensembl chr 6:122,929,474...122,946,834 		JBrowse link
G Clec4b1 C-type lectin domain family 4, member b1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:123,026,921...123,048,514
Ensembl chr 6:123,026,921...123,048,514 		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 chr 6:123,239,066...123,252,227
Ensembl chr 6:123,239,070...123,252,224 		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 chr 6:123,258,748...123,266,830
Ensembl chr 6:123,258,748...123,266,829 		JBrowse link
G Clec4n C-type lectin domain family 4, member n ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:123,206,802...123,223,983
Ensembl chr 6:123,206,802...123,223,980 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,407,715...124,441,743
Ensembl chr 6:124,407,540...124,441,753 		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 chr 6:124,935,413...124,974,866
Ensembl chr 6:124,935,376...124,942,501 		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 chr 6:127,538,299...127,651,197
Ensembl chr 6:127,538,301...127,651,211 		JBrowse link
G D6Wsu163e DNA segment, Chr 6, Wayne State University 163, expressed ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:126,916,938...126,952,667
Ensembl chr 6:126,916,925...126,952,930 		JBrowse link
G Dcp1b decapping mRNA 1B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:119,152,214...119,198,575
Ensembl chr 6:119,152,214...119,198,577 		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 chr 6:122,603,383...122,607,230
Ensembl chr 6:122,603,369...122,607,231 		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 chr 6:126,852,983...126,899,039
Ensembl chr 6:126,852,983...126,898,802 		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 chr 6:124,681,344...124,689,118
Ensembl chr 6:124,681,048...124,689,141 		JBrowse link
G Eno2 enolase 2, gamma neuronal ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,737,018...124,746,489
Ensembl chr 6:124,737,016...124,746,636 		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 chr 6:119,547,757...119,830,985
Ensembl chr 6:119,547,757...119,825,128 		JBrowse link
G Fam90a1b family with sequence similarity 90, member A1B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr  X:93,383,509...93,410,513
Ensembl chr  X:93,398,659...93,410,383
Ensembl chr  X:93,398,659...93,410,383 		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 chr 6:119,456,629...119,460,847
Ensembl chr 6:119,456,629...119,459,591 		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 chr 6:127,049,865...127,059,257
Ensembl chr 6:127,049,865...127,058,371 		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 chr 6:126,992,505...127,001,681
Ensembl chr 6:126,992,549...127,005,150 		JBrowse link
G Fkbp4 FK506 binding protein 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:128,407,066...128,415,619
Ensembl chr 6:128,406,698...128,415,640 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:122,797,143...122,822,325
Ensembl chr 6:122,796,873...122,822,325 		JBrowse link
G Foxm1 forkhead box M1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:128,339,957...128,352,849
Ensembl chr 6:128,339,930...128,353,109 		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 chr 2:65,913,110...65,955,217
Ensembl chr 2:65,913,110...65,955,338 		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 chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430 		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 chr 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046 		JBrowse link
G Gm23547 predicted gene, 23547 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,692,195...124,692,465
Ensembl chr 6:124,692,195...124,692,465 		JBrowse link
G Gm23751 predicted gene, 23751 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,098,687...125,098,822
Ensembl chr 6:125,098,687...125,098,822 		JBrowse link
G Gm29788 predicted gene, 29788 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:126,769,412...126,787,607
Ensembl chr 6:126,769,412...126,787,607 		JBrowse link
G Gnb3 guanine nucleotide binding protein (G protein), beta 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238 		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 chr 6:124,835,407...124,840,900
Ensembl chr 6:124,835,407...124,840,946 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,716,146...124,718,032
Ensembl chr 6:124,716,146...124,718,337 		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 chr 6:125,122,167...125,138,746
Ensembl chr 6:125,122,204...125,138,745 		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 chr 6:125,016,811...125,026,228
Ensembl chr 6:125,016,723...125,026,228 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:121,349,886...121,450,697
Ensembl chr 6:121,349,892...121,450,637 		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 chr 6:128,386,407...128,401,873
Ensembl chr 6:128,386,407...128,401,894 		JBrowse link
G Kcna1 potassium voltage-gated channel, shaker-related subfamily, member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:126,613,426...126,622,764
Ensembl chr 6:126,617,360...126,623,347 		JBrowse link
G Kcna5 potassium voltage-gated channel, shaker-related subfamily, member 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:126,509,514...126,512,518
Ensembl chr 6:126,509,514...126,512,375 		JBrowse link
G Kcna6 potassium voltage-gated channel, shaker-related, subfamily, member 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:126,685,292...126,717,610
Ensembl chr 6:126,685,292...126,717,637 		JBrowse link
G Kdm5a lysine demethylase 5A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:120,341,060...120,421,535
Ensembl chr 6:120,341,085...120,421,535 		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 chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282 		JBrowse link
G Klrg1 killer cell lectin-like receptor subfamily G, member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:122,247,555...122,259,792
Ensembl chr 6:122,247,555...122,259,841 		JBrowse link
G Lag3 lymphocyte-activation gene 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,881,322...124,888,668
Ensembl chr 6:124,881,324...124,888,668 		JBrowse link
G LOC108942767 Nanog 5' regulatory region ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:122,678,783...122,685,079 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 chr 6:125,044,808...125,063,092
Ensembl chr 6:125,044,883...125,059,435 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,639,887...124,681,142
Ensembl chr 6:124,639,990...124,681,381 		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 chr 6:124,746,832...124,757,411
Ensembl chr 6:124,746,826...124,756,690 		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 chr 6:119,292,094...119,315,009
Ensembl chr 6:119,292,094...119,307,727 		JBrowse link
G Ltbr lymphotoxin B receptor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,283,534...125,291,026
Ensembl chr 6:125,283,534...125,290,848 		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 chr 6:122,285,679...122,294,639
Ensembl chr 6:122,285,679...122,294,639 		JBrowse link
G Mfap5 microfibrillar associated protein 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:122,490,543...122,506,249
Ensembl chr 6:122,482,804...122,506,249 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,694,877...124,694,948
Ensembl chr 6:124,694,877...124,694,948 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,695,285...124,695,353
Ensembl chr 6:124,695,285...124,695,353 		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 chr 6:124,908,351...124,913,112
Ensembl chr 6:124,908,349...124,914,201 		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 chr 6:125,169,163...125,171,355
Ensembl chr 6:125,168,764...125,173,232 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:122,684,448...122,691,592
Ensembl chr 6:122,684,448...122,691,592 		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 chr 6:125,144,970...125,169,062
Ensembl chr 6:125,144,970...125,168,664 		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 chr 6:126,798,826...126,826,107
Ensembl chr 6:126,798,684...126,826,099 		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 chr 6:122,851,516...122,865,902
Ensembl chr 6:122,851,433...122,865,900 		JBrowse link
G Ninj2 ninjurin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:120,070,315...120,177,300
Ensembl chr 6:120,070,311...120,177,300 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,108,829...125,121,716
Ensembl chr 6:125,108,872...125,121,716 		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 chr 6:128,374,780...128,386,747
Ensembl chr 6:128,376,259...128,393,390 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:126,078,375...126,143,703
Ensembl chr 6:126,078,375...126,143,873 		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 chr 6:124,818,052...124,834,680
Ensembl chr 6:124,818,052...124,834,715 		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 chr 6:127,423,803...127,491,200
Ensembl chr 6:127,423,803...127,471,224 		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 chr 6:124,373,774...124,392,878
Ensembl chr 6:124,373,775...124,392,026 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,689,252...124,693,908
Ensembl chr 6:124,689,299...124,693,913 		JBrowse link
G Phc1 polyhomeotic 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:122,294,690...122,317,551
Ensembl chr 6:122,294,690...122,317,520 		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 chr 6:124,973,683...124,980,059
Ensembl chr 6:124,973,657...124,980,059 		JBrowse link
G Plekhg6 pleckstrin homology domain containing, family G (with RhoGef domain) member 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,339,614...125,358,578
Ensembl chr 6:125,339,623...125,357,756 		JBrowse link
G Prmt8 protein arginine N-methyltransferase 8 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:127,665,972...127,746,430
Ensembl chr 6:127,665,974...127,746,435 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,890,638...124,894,909
Ensembl chr 6:124,890,644...124,897,066 		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 chr 6:124,697,670...124,715,672
Ensembl chr 6:124,697,670...124,715,677 		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 chr 6:126,900,378...126,916,664
Ensembl chr 6:126,900,013...126,916,550 		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 chr 6:119,878,781...119,899,789
Ensembl chr 6:119,879,659...119,899,789 		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 chr 6:128,333,962...128,339,876
Ensembl chr 6:128,333,963...128,339,874 		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 chr 6:122,424,255...122,464,021
Ensembl chr 6:122,424,255...122,475,720 		JBrowse link
G Scarna10 small Cajal body-specific RNA 10 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,163,324...125,163,394
Ensembl chr 6:125,163,322...125,163,646 		JBrowse link
G Scnn1a sodium channel, nonvoltage-gated 1 alpha ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,286,657...125,321,906
Ensembl chr 6:125,297,622...125,321,906 		JBrowse link
G Slc2a3 solute carrier family 2 (facilitated glucose transporter), member 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:122,704,783...122,779,149
Ensembl chr 6:122,704,768...122,778,599 		JBrowse link
G Slc6a12 solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:121,319,533...121,342,732
Ensembl chr 6:121,320,035...121,342,734 		JBrowse link
G Slc6a13 solute carrier family 6 (neurotransmitter transporter, GABA), member 13 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:121,277,247...121,314,680
Ensembl chr 6:121,277,186...121,314,692 		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 chr 6:124,785,640...124,787,582
Ensembl chr 6:124,785,624...124,787,582 		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 chr 6:125,200,890...125,208,823
Ensembl chr 6:125,200,896...125,208,823 		JBrowse link
G Tead4 TEA domain family member 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:128,204,106...128,277,776
Ensembl chr 6:128,201,251...128,277,786 		JBrowse link
G Tex52 testis expressed 52 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:128,352,473...128,362,107
Ensembl chr 6:128,352,419...128,362,107 		JBrowse link
G Tigar Trp53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:127,062,079...127,086,564
Ensembl chr 6:127,062,079...127,086,520 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,787,549...124,791,121
Ensembl chr 6:124,787,549...124,791,259 		JBrowse link
G Tspan9 tetraspanin 9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:127,938,359...128,120,541
Ensembl chr 6:127,938,359...128,120,557 		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 chr 6:128,298,103...128,332,833
Ensembl chr 6:128,298,124...128,332,814 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 (isopeptidase T) ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,791,982...124,806,404
Ensembl chr 6:124,791,982...124,806,447 		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 chr 6:125,192,544...125,199,269
Ensembl chr 6:125,192,514...125,222,927 		JBrowse link
G Vwf Von Willebrand factor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		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 chr 6:119,900,930...120,015,659
Ensembl chr 6:119,900,930...120,015,633 		JBrowse link
G Wnt5b wingless-type MMTV integration site family, member 5B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:119,409,493...119,521,847
Ensembl chr 6:119,409,492...119,521,308 		JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 6:124,985,980...125,014,833
Ensembl chr 6:124,986,108...125,014,833 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    Nutritional and Metabolic Diseases 7404
      disease of metabolism 7404
        inherited metabolic disorder 5709
          hyperphosphatemic familial tumoral calcinosis 120
            Hyperphosphatemic Familial Tumoral Calcinosis 1 120
Path 2
Term Annotations click to browse term
  disease 16121
    Developmental Disease 13809
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12823
        genetic disease 12470
          monogenic disease 10415
            autosomal genetic disease 9593
              autosomal recessive disease 6678
                hyperphosphatemic familial tumoral calcinosis 120
                  Hyperphosphatemic Familial Tumoral Calcinosis 1 120
paths to the root