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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;   HYPEROSTOSIS WITH HYPERPHOSPHATEMIA;   Hyperphosphatemia Hyperostosis;   Hyperphosphatemia Tumoral Calcinosis;   Lipocalcinogranulomatosis;   Morbus Teutschlaender;   PHPTC;   Primary Hyperphosphatemic Tumoral Calcinosis;   cortical hyperostosis with hyperphosphatemia;   familial Teutschlaender disease;   familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome;   hypercalcemic tumoral calcinosis;   hyperostosis-hyperphosphatemia syndrome;   hyperphosphatemic tumoral calcinosis;   tumoral calcinosis with hyperphosphatemia
 primary_id: MESH:C538381;   MESH:C566870
 alt_id: RDO:0004356;   RDO:0015087
 xref: GARD:10879;   ICD10CM:M11.2;   NCI:C131851;   ORDO:306661
For additional species annotation, visit the Alliance of Genome Resources.

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: Tumoral calcinosis, familial, hyperphosphatemic ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25326637 PMID:29389098 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412 		JBrowse link
G Kl Klotho ISO
ISS		 ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic
OMIM:211900		 ClinVar
MouseDO		 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551 		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: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,563,990...157,577,045
Ensembl chr 4:157,563,990...157,568,023 		JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 1:189,432,604...189,458,799
Ensembl chr 1:189,432,604...189,457,048 		JBrowse link
G Adipor2 adiponectin receptor 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671 		JBrowse link
G Akap3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,399,686...159,425,512
Ensembl chr 4:159,403,501...159,425,629 		JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,222,650...158,577,595
Ensembl chr 4:158,224,000...158,576,978 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755 		JBrowse link
G B4galnt3 beta-1,4-N-acetyl-galactosaminyl transferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,736,036...152,835,521
Ensembl chr 4:152,737,161...152,835,182 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263 		JBrowse link
G Ccdc77 coiled-coil domain containing 77 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,860,669...152,892,518
Ensembl chr 4:152,860,675...152,883,210 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088 		JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176 		JBrowse link
G Cd9 CD9 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659 		JBrowse link
G Clec4a C-type lectin domain family 4, member A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,049,800...156,069,260
Ensembl chr 4:156,050,054...156,069,313 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,947,794...155,959,909
Ensembl chr 4:155,947,453...155,959,993 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,913,366...155,923,079
Ensembl chr 4:155,913,366...155,923,079 		JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,107,720...156,131,226
Ensembl chr 4:156,107,620...156,131,583 		JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,253,084...156,264,766
Ensembl chr 4:156,253,079...156,264,769 		JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,271,087...156,276,243
Ensembl chr 4:156,270,920...156,276,304 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,479,549...157,486,944
Ensembl chr 4:157,479,549...157,486,914 		JBrowse link
G Cracr2a calcium release activated channel regulator 2A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,143,160...160,238,744
Ensembl chr 4:160,168,297...160,194,038 		JBrowse link
G Dcp1b decapping mRNA 1B ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,249,654...151,287,018
Ensembl chr 4:151,250,041...151,285,702 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,437,675...155,441,059
Ensembl chr 3:111,298,713...111,299,189
Ensembl chr 4:111,298,713...111,299,189 		JBrowse link
G Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,426,447...159,467,973
Ensembl chr 4:159,427,340...159,467,955 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047 		JBrowse link
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,087,393...152,380,023
Ensembl chr 4:152,087,379...152,380,184 		JBrowse link
G Fam90a1 family with sequence similarity 90, member A1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr16:75,001,033...75,016,173 JBrowse link
G Fbxl14 F-box and leucine-rich repeat protein 14 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,986,890...151,990,706 JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1		 ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25378588 PMID:29389098 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,563,798...159,572,333
Ensembl chr 4:159,563,798...159,572,333 		JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,748,993...161,757,447
Ensembl chr 4:161,748,993...161,757,447 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,653,446...155,679,815
Ensembl chr 4:155,653,718...155,679,793 		JBrowse link
G Foxm1 forkhead box M1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,685,236...161,697,633
Ensembl chr 4:161,685,258...161,696,305 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 OMIM
ClinVar		 PMID:3839626 PMID:3998061 PMID:8338191 PMID:13774168 PMID:15133511 PMID:15599692 PMID:15687324 PMID:16528452 PMID:16940445 PMID:17311862 PMID:17351710 PMID:18618993 PMID:20358599 PMID:24668887 PMID:25326635 PMID:25351881 PMID:25741868 PMID:26337219 PMID:28492532 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412 		JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,340,750...159,362,350 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,375,184...157,381,780
Ensembl chr 4:157,375,184...157,381,105 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018 		JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,659,115...157,676,335
Ensembl chr 4:157,659,147...157,676,331 		JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,554,729...157,563,353
Ensembl chr 4:157,554,794...157,563,352 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:153,948,052...154,044,493
Ensembl chr 4:153,948,055...154,044,493 		JBrowse link
G Itfg2 integrin alpha FG-GAP repeat containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,730,643...161,744,281
Ensembl chr 4:161,730,641...161,743,896 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,253,934...159,287,193
Ensembl chr 4:159,253,934...159,287,193 		JBrowse link
G Kdm5a lysine demethylase 5A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201 		JBrowse link
G Kl Klotho ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:17710231 PMID:25741868 PMID:29389098 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551 		JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,038,936...155,051,449
Ensembl chr 4:155,039,628...155,051,429 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,425,644...157,433,700
Ensembl chr 4:157,425,644...157,433,467 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,581,000...157,596,454
Ensembl chr 4:157,594,436...157,595,972 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653 		JBrowse link
G Lrtm2 leucine-rich repeats and transmembrane domains 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,375,568...151,397,485
Ensembl chr 4:151,375,572...151,390,263 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241 		JBrowse link
G M6pr mannose-6-phosphate receptor, cation dependent ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,084,755...155,093,896
Ensembl chr 4:155,088,317...155,092,827 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,313,671...155,336,228
Ensembl chr 4:155,313,671...155,336,228 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,236,786...157,236,854 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,452,578...157,457,254
Ensembl chr 4:157,452,607...157,457,249 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,705,790...157,709,452
Ensembl chr 4:157,705,790...157,708,748 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268 		JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,682,855...157,705,903
Ensembl chr 4:157,683,077...157,704,596 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,371,263...159,399,636
Ensembl chr 4:159,371,259...159,399,634 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790 		JBrowse link
G Ninj2 ninjurin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,630,464...152,733,631
Ensembl chr 4:152,630,469...152,733,633 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,646,759...157,658,502
Ensembl chr 4:157,647,082...157,658,390 		JBrowse link
G Nrip2 nuclear receptor interacting protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,719,434...161,729,673
Ensembl chr 4:161,720,501...161,729,192 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861 		JBrowse link
G Parp11 poly (ADP-ribose) polymerase family, member 11 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,013,968...160,059,981
Ensembl chr 4:160,020,472...160,058,729 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367 		JBrowse link
G Phc1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,093,947...155,118,838
Ensembl chr 4:155,093,949...155,116,154 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,508,862...157,517,676
Ensembl chr 4:157,511,642...157,517,669 		JBrowse link
G Plekhg6 pleckstrin homology and RhoGEF domain containing G6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,877,725...157,897,167
Ensembl chr 4:157,878,182...157,894,448 		JBrowse link
G Prmt8 protein arginine methyltransferase 8 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,253,409...160,334,647
Ensembl chr 4:160,253,073...160,334,910 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,435,371...157,439,507
Ensembl chr 4:157,435,373...157,439,507 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890 		JBrowse link
G Rad51ap1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,469,803...159,482,869
Ensembl chr 4:159,469,804...159,482,869 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609 		JBrowse link
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,483,089...159,518,387
Ensembl chr 4:159,483,131...159,515,447 		JBrowse link
G Rhno1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,679,674...161,685,060
Ensembl chr 4:161,680,027...161,681,660 		JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,258,241...155,292,809
Ensembl chr 4:155,260,103...155,275,161 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856 		JBrowse link
G Slc6a12 solute carrier family 6 member 12 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:153,921,199...153,941,333
Ensembl chr 4:153,921,115...153,941,391 		JBrowse link
G Slc6a13 solute carrier family 6 member 13 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:153,874,942...153,912,185
Ensembl chr 4:153,874,852...153,912,155 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,325,980...157,328,380
Ensembl chr 4:157,326,727...157,328,379 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199 		JBrowse link
G Tead4 TEA domain transcription factor 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,542,566...161,619,848
Ensembl chr 4:161,540,130...161,587,222 		JBrowse link
G Tex52 testis expressed 52 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,696,884...161,708,793
Ensembl chr 4:161,696,903...161,705,690 		JBrowse link
G Tigar TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,635,145...159,654,108
Ensembl chr 4:159,635,153...159,654,063 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905 		JBrowse link
G Tspan9 tetraspanin 9 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,530,726...160,725,056
Ensembl chr 4:160,530,720...160,662,974 		JBrowse link
G Tulp3 TUB like protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,636,084...161,677,807
Ensembl chr 4:161,637,892...161,658,519 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,332,735...157,347,803
Ensembl chr 4:157,332,740...157,347,803 		JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446 		JBrowse link
G Wnt5b Wnt family member 5B ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,500,962...151,516,894
Ensembl chr 4:151,500,957...151,516,894 		JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,523,083...157,552,606
Ensembl chr 4:157,523,110...157,552,596 		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 ClinVar
OMIM		 PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 PMID:18682534 PMID:18982401 PMID:19837926 PMID:22419710 PMID:24033266 PMID:25445451 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29389098 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082 		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: Hyperphosphatemic familial tumoral calcinosis 3 OMIM
ClinVar		 PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        phosphorus metabolism disease 183
          hyperphosphatemia 118
            hyperphosphatemic familial tumoral calcinosis 116
              Hyperphosphatemic Familial Tumoral Calcinosis 1 116
              Hyperphosphatemic Familial Tumoral Calcinosis 2 1
              Hyperphosphatemic Familial Tumoral Calcinosis 3 1
Path 2
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        acquired metabolic disease 2753
          mineral metabolism disease 436
            phosphorus metabolism disease 183
              hyperphosphatemia 118
                hyperphosphatemic familial tumoral calcinosis 116
                  Hyperphosphatemic Familial Tumoral Calcinosis 1 116
                  Hyperphosphatemic Familial Tumoral Calcinosis 2 1
                  Hyperphosphatemic Familial Tumoral Calcinosis 3 1
paths to the root