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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
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Accession:DOID:0111063 term browser browse the term
Definition:A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. (DO)
Synonyms:exact_synonym: HFTC;   HHS;   Hyperphosphatemia Hyperostosis;   Hyperphosphatemia Tumoral Calcinosis;   Lipocalcinogranulomatosis;   Morbus Teutschlaender;   PHPTC;   cortical hyperostosis with hyperphosphatemia;   familial Teutschlaender disease;   familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome;   hypercalcemic tumoral calcinosis;   hyperostosis with hyperphosphatemia;   hyperostosis-hyperphosphatemia syndrome;   hyperphosphatemic tumoral calcinosis;   primary hyperphosphatemic tumoral calcinosis;   tumoral calcinosis with hyperphosphatemia
 broad_synonym: familial tumoral calcinosis
 primary_id: MESH:C538381;   MESH:C566870
 xref: EFO:0009385;   GARD:10879;   ICD10CM:M11.2;   NCI:C131851;   ORDO:306661

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show annotations for term's descendants           Sort by:
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 chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961 		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 chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657 		JBrowse link
G Kl klotho ISO ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome ClinVar NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,148,454...1,158,069 JBrowse link
G Adipor2 adiponectin receptor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:1,911,104...2,007,109
Ensembl chrNW_004936606:1,948,743...2,007,163 		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 chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601 		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 chrNW_004936606:4,771,158...4,794,666
Ensembl chrNW_004936606:4,771,180...4,794,902 		JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,771,763...2,097,668
Ensembl chrNW_004936709:1,745,804...2,096,989 		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 chrNW_004939393:628...6,234
Ensembl chrNW_004939393:628...6,201 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:886,571...894,746
Ensembl chrNW_004936709:887,455...894,727 		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 chrNW_004936606:716,697...751,392
Ensembl chrNW_004936606:645,673...749,370 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:709,001...719,758
Ensembl chrNW_004936709:708,968...720,478 		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 chrNW_004936709:695,898...705,189 JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:731,211...742,583
Ensembl chrNW_004936709:731,165...742,686 		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 chrNW_004936892:347,547...355,143
Ensembl chrNW_004936892:347,842...349,296 		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 chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758 		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 chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167 		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 chrNW_004936606:570,536...619,688
Ensembl chrNW_004936606:586,449...619,067 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,474,801...4,496,158
Ensembl chrNW_004936606:4,474,749...4,496,810 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,312,434...1,317,592
Ensembl chrNW_004936709:1,312,448...1,317,378 		JBrowse link
G Cd4 CD4 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:997,776...1,022,791
Ensembl chrNW_004936709:997,750...1,022,884 		JBrowse link
G Cd9 CD9 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,497,504...1,530,114 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 chrNW_004936709:966,559...969,667
Ensembl chrNW_004936709:967,294...968,896 		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 chrNW_004936709:1,183,243...1,214,144
Ensembl chrNW_004936709:1,183,254...1,214,149 		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 chrNW_004936858:303,639...312,092
Ensembl chrNW_004936858:303,639...312,083 		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 chrNW_004936858:316,954...321,668
Ensembl chrNW_004936858:316,954...321,668 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:641,615...673,309
Ensembl chrNW_004936709:637,641...673,314 		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 chrNW_004936709:1,081,070...1,087,151
Ensembl chrNW_004936709:1,080,696...1,087,062 		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 chrNW_004936606:3,880,214...3,970,278
Ensembl chrNW_004936606:3,882,276...3,955,765 		JBrowse link
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:884,741...886,617
Ensembl chrNW_004936709:884,741...886,895 		JBrowse link
G Dcp1b decapping mRNA 1B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:2,145,289...2,196,157
Ensembl chrNW_004936606:2,145,260...2,196,193 		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 chrNW_004936606:4,740,227...4,769,734
Ensembl chrNW_004936606:4,718,533...4,769,524 		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 chrNW_004936709:847,229...854,471
Ensembl chrNW_004936709:845,633...854,976 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:904,647...913,445
Ensembl chrNW_004936709:904,031...913,451 		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 chrNW_004936606:1,201,420...1,713,894
Ensembl chrNW_004936606:1,201,657...1,708,551 		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 chrNW_004936606:1,802,833...1,806,870
Ensembl chrNW_004936606:1,805,827...1,806,870 		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 chrNW_004936606:4,660,203...4,697,065
Ensembl chrNW_004936606:4,659,340...4,697,060 		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 chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961 		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 chrNW_004936606:4,613,052...4,624,587
Ensembl chrNW_004936606:4,613,048...4,624,587 		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 chrNW_004936606:3,122,798...3,131,352
Ensembl chrNW_004936606:3,122,736...3,134,823 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936892:324,103...344,739
Ensembl chrNW_004936892:331,239...344,624 		JBrowse link
G Foxm1 forkhead box M1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,185,289...3,198,427
Ensembl chrNW_004936606:3,185,982...3,198,378 		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 chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657 		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 chrNW_004936606:4,883,434...4,947,621 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 chrNW_004936709:1,243,149...1,247,782 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 chrNW_004937847:8,179...16,783
Ensembl chrNW_004937847:7,456...16,783 		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 chrNW_004936709:970,169...977,059
Ensembl chrNW_004936709:970,172...976,863 		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 chrNW_004936709:990,690...996,849
Ensembl chrNW_004936709:990,202...996,854 		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 chrNW_004936709:1,228,589...1,242,349
Ensembl chrNW_004936709:1,228,606...1,242,349 		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 chrNW_004936709:1,140,485...1,147,982
Ensembl chrNW_004936709:1,140,345...1,149,843 		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 chrNW_004936606:271,217...388,505
Ensembl chrNW_004936606:271,291...374,940 		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 chrNW_004936606:3,144,616...3,158,825
Ensembl chrNW_004936606:3,144,602...3,158,890 		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 chrNW_004936606:4,969,282...4,972,383
Ensembl chrNW_004936606:4,969,787...4,971,446 		JBrowse link
G Kdm5a lysine demethylase 5A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:486,424...570,546
Ensembl chrNW_004936606:485,655...570,739 		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 chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086 		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 chrNW_004936870:339,526...352,807
Ensembl chrNW_004936870:339,521...353,207 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,041,519...1,048,630
Ensembl chrNW_004936709:1,041,530...1,047,280 		JBrowse link
G LOC101959799 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 chrNW_004937109:142,711...144,257
Ensembl chrNW_004937109:142,711...144,198 		JBrowse link
G LOC101965910 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 chrNW_004936892:454,036...467,957 JBrowse link
G LOC101972289 protein FAM90A27P ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004937327:19,316...24,170 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 chrNW_004936709:1,170,042...1,172,148
Ensembl chrNW_004936709:1,170,215...1,171,388 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:800,197...852,659
Ensembl chrNW_004936709:799,961...851,585 		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 chrNW_004936709:914,077...923,169
Ensembl chrNW_004936709:914,789...922,466 		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 chrNW_004936606:2,035,359...2,052,188
Ensembl chrNW_004936606:2,042,844...2,055,028 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,362,846...1,369,287
Ensembl chrNW_004936709:1,362,840...1,369,365 		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 chrNW_004936870:300,742...310,876
Ensembl chrNW_004936870:302,166...307,134 		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 chrNW_004936870:58,863...65,844
Ensembl chrNW_004936870:57,015...71,325 		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 chrNW_004936709:1,053,408...1,070,253 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 chrNW_004936709:1,275,888...1,277,025
Ensembl chrNW_004936709:1,275,890...1,277,025 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936892:181,834...187,691 JBrowse link
G Nanognb NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936870:763,004...765,847 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 chrNW_004936709:1,250,442...1,275,823
Ensembl chrNW_004936709:1,250,495...1,275,769 		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 chrNW_004936606:4,794,701...4,825,696
Ensembl chrNW_004936606:4,794,749...4,825,570 		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 chrNW_004936892:372,743...385,127
Ensembl chrNW_004936892:372,284...385,202 		JBrowse link
G Ninj2 ninjurin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:752,782...849,264
Ensembl chrNW_004936606:752,581...755,559 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,215,100...1,228,117 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 chrNW_004936606:3,159,049...3,167,629
Ensembl chrNW_004936606:3,158,910...3,167,578 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:2,163,510...2,223,429
Ensembl chrNW_004936709:2,163,334...2,223,552 		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 chrNW_004936709:977,851...989,949
Ensembl chrNW_004936709:978,229...989,874 		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 chrNW_004936606:4,062,301...4,120,389
Ensembl chrNW_004936606:4,063,171...4,120,397 		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 chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:854,493...859,182
Ensembl chrNW_004936709:854,698...858,851 		JBrowse link
G Phc1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936870:275,764...300,460
Ensembl chrNW_004936870:277,252...303,125 		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 chrNW_004936709:1,102,730...1,111,143
Ensembl chrNW_004936709:1,102,477...1,110,420 		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 chrNW_004936709:1,421,550...1,437,950
Ensembl chrNW_004936709:1,421,531...1,438,003 		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 chrNW_004936606:3,812,030...3,864,349
Ensembl chrNW_004936606:3,811,975...3,864,394 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,049,455...1,050,892
Ensembl chrNW_004936709:1,049,964...1,050,769 		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 chrNW_004936709:864,206...884,630
Ensembl chrNW_004936709:864,197...884,610 		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 chrNW_004936606:4,697,369...4,716,006 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 chrNW_004936606:1,070,336...1,099,684
Ensembl chrNW_004936606:1,066,905...1,099,703 		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 chrNW_004936709:673,383...679,173
Ensembl chrNW_004936709:674,819...679,503 		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 chrNW_004936606:3,201,540...3,208,019
Ensembl chrNW_004936606:3,201,504...3,208,342 		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 chrNW_004936870:93,084...175,154
Ensembl chrNW_004936870:93,012...164,930 		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 chrNW_004936709:1,377,852...1,403,398
Ensembl chrNW_004936709:1,377,831...1,403,833 		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 chrNW_004936606:387,342...412,684
Ensembl chrNW_004936606:384,124...411,698 		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 chrNW_004936606:416,170...455,720
Ensembl chrNW_004936606:415,177...455,721 		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 chrNW_004936709:945,322...948,101
Ensembl chrNW_004936709:945,201...951,441 		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 chrNW_004936709:1,304,843...1,313,191
Ensembl chrNW_004936709:1,304,971...1,313,770 		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 chrNW_004936606:3,310,905...3,358,519
Ensembl chrNW_004936606:3,310,823...3,356,509 		JBrowse link
G Tex52 testis expressed 52 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,178,727...3,184,288
Ensembl chrNW_004936606:3,178,727...3,183,796 		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 chrNW_004936606:4,518,525...4,540,109
Ensembl chrNW_004936606:4,518,584...4,540,114 		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 chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:948,151...951,430
Ensembl chrNW_004936709:945,201...951,441 		JBrowse link
G Tspan9 tetraspanin 9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,398,745...3,589,647
Ensembl chrNW_004936606:3,506,357...3,586,849 		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 chrNW_004936606:3,209,170...3,278,809
Ensembl chrNW_004936606:3,209,141...3,278,563 		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 chrNW_004936709:952,225...966,429
Ensembl chrNW_004936709:952,182...966,498 		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 chrNW_004936709:1,297,820...1,304,793
Ensembl chrNW_004936709:1,297,743...1,304,899 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754 		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 chrNW_004936606:933,637...1,069,885
Ensembl chrNW_004936606:934,337...1,067,275 		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 chrNW_004936606:1,741,500...1,854,857
Ensembl chrNW_004936606:1,838,043...1,856,095 		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 chrNW_004936709:1,114,105...1,137,918
Ensembl chrNW_004936709:1,113,974...1,138,478 		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 chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961 		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: Tumoral calcinosis, hyperphosphatemic, familial, 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17710231 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6781
      disease of metabolism 6781
        inherited metabolic disorder 5212
          hyperphosphatemic familial tumoral calcinosis 108
            Hyperphosphatemic Familial Tumoral Calcinosis 1 108
            Hyperphosphatemic Familial Tumoral Calcinosis 2 1
            Hyperphosphatemic Familial Tumoral Calcinosis 3 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9605
            autosomal genetic disease 8889
              autosomal recessive disease 6216
                hyperphosphatemic familial tumoral calcinosis 108
                  Hyperphosphatemic Familial Tumoral Calcinosis 1 108
                  Hyperphosphatemic Familial Tumoral Calcinosis 2 1
                  Hyperphosphatemic Familial Tumoral Calcinosis 3 1
paths to the root