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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;   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 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: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 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        phosphorus metabolism disease 183
          hyperphosphatemia 117
            hyperphosphatemic familial tumoral calcinosis 115
              Hyperphosphatemic Familial Tumoral Calcinosis 1 115
              Hyperphosphatemic Familial Tumoral Calcinosis 2 1
              Hyperphosphatemic Familial Tumoral Calcinosis 3 1
Path 2
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          mineral metabolism disease 442
            phosphorus metabolism disease 183
              hyperphosphatemia 117
                hyperphosphatemic familial tumoral calcinosis 115
                  Hyperphosphatemic Familial Tumoral Calcinosis 1 115
                  Hyperphosphatemic Familial Tumoral Calcinosis 2 1
                  Hyperphosphatemic Familial Tumoral Calcinosis 3 1
paths to the root

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