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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hyperphosphatemic Familial Tumoral Calcinosis 1
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Accession:DOID:9007992 term browser browse the term
Synonyms:exact_synonym: HFTC1
 primary_id: MIM:211900


show annotations for term's descendants           Sort by:
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,603,260...62,648,170
Ensembl chr 5:62,603,260...62,648,201 		JBrowse link
G ACRBP acrosin binding protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,036,810...64,047,846
Ensembl chr 5:64,037,095...64,047,847 		JBrowse link
G ACSM4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 3:25,296,202...25,327,054
Ensembl chr 3:25,296,206...25,327,054 		JBrowse link
G ADIPOR2 adiponectin receptor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,755,789...68,807,247
Ensembl chr 5:68,755,811...68,807,235 		JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		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 chr 5:65,788,744...65,816,031
Ensembl chr 5:65,797,376...65,819,765 		JBrowse link
G ANO2 anoctamin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,660,047...65,002,453
Ensembl chr 5:64,660,442...65,002,453 		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 chr 5:62,811,819...62,820,532
Ensembl chr 5:62,810,879...62,820,173 		JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648 		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 chr 5:67,772,347...67,861,000
Ensembl chr 5:67,772,426...67,860,989 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143 		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 chr 5:63,623,398...63,640,065
Ensembl chr 5:63,627,313...63,640,057 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,670,309...63,681,466
Ensembl chr 5:63,670,312...63,708,214 		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 chr 5:63,088,778...63,098,750
Ensembl chr 5:63,088,778...63,098,750 		JBrowse link
G C5H12orf57 chromosome 5 C12orf57 homolog ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,779,510...63,781,307
Ensembl chr 5:63,779,513...63,781,517 		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 chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,454,459 		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 chr 5:68,805,092...68,899,397
Ensembl chr 5:68,808,378...68,906,249 		JBrowse link
G CCDC77 coiled-coil domain containing 77 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,725,757...67,756,516
Ensembl chr 5:67,725,834...67,760,049 		JBrowse link
G CCND2 cyclin D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498 		JBrowse link
G CD163L1 CD163 molecule-like 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,488,674...63,514,536 JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,197,594...64,202,236
Ensembl chr 5:64,196,994...64,202,613 		JBrowse link
G CD4 CD4 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519 		JBrowse link
G CD9 CD9 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,420,177...64,459,783
Ensembl chr 5:64,420,182...64,460,304 		JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,858,905...63,861,902
Ensembl chr 5:63,859,541...63,864,269 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,071,627...64,105,212
Ensembl chr 5:64,065,992...64,105,173 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,219,229...63,228,566 JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,572,062...63,612,177
Ensembl chr 5:63,572,065...63,599,525 		JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,970,543...63,977,470
Ensembl chr 5:63,957,064...63,977,424 		JBrowse link
G CRACR2A calcium release activated channel regulator 2A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:66,574,758...66,650,447
Ensembl chr 5:66,533,033...66,647,748 		JBrowse link
G DCP1B decapping mRNA 1B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,922,086...68,976,280
Ensembl chr 5:68,923,903...68,975,957 		JBrowse link
G DPPA3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,861,492...62,868,131 JBrowse link
G DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,815,063...65,877,804
Ensembl chr 5:65,812,243...65,870,092 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,746,326...63,751,469
Ensembl chr 5:63,745,476...63,751,469 		JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,930...63,809,410 		JBrowse link
G ERC1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,223,722...68,608,705
Ensembl chr 5:68,223,729...68,608,703 		JBrowse link
G FBXL14 F-box and leucine rich repeat protein 14 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,675,071...68,678,219
Ensembl chr 5:68,675,531...68,678,296 		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 chr 5:65,896,750...65,944,183
Ensembl chr 5:65,897,537...65,944,179 		JBrowse link
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,038,740 		JBrowse link
G FGF6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,975,807...65,990,035
Ensembl chr 5:65,975,838...65,990,029 		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 chr 5:67,314,010...67,321,628
Ensembl chr 5:67,313,480...67,322,028 		JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,061,978...63,087,689
Ensembl chr 5:63,061,978...63,085,037 		JBrowse link
G FOXM1 forkhead box M1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,246,219...67,263,215
Ensembl chr 5:67,245,694...67,263,211
Ensembl chr 5:67,245,694...67,263,211 		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 chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435 		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 chr 5:65,697,120...65,735,521
Ensembl chr 5:65,696,868...65,735,536 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991 		JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,835,926...62,841,827
Ensembl chr 5:62,835,880...62,841,884 		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 chr 5:63,863,656...63,871,352
Ensembl chr 5:63,863,661...63,870,433 		JBrowse link
G GPR162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,885,710...63,891,436
Ensembl chr 5:63,885,715...63,891,219 		JBrowse link
G IFFO1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,115,695...64,129,832
Ensembl chr 5:64,116,150...64,129,274 		JBrowse link
G ING4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,027,789...64,036,671
Ensembl chr 5:64,027,855...64,036,773 		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 chr 5:67,445,839...67,540,488
Ensembl chr 5:67,445,838...67,540,485 		JBrowse link
G ITFG2 integrin alpha FG-GAP repeat containing 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,292,901...67,306,208
Ensembl chr 5:67,291,772...67,305,607 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,556,837...65,565,880
Ensembl chr 5:65,561,962...65,565,116 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,439,336...65,442,207
Ensembl chr 5:65,439,336...65,442,207 		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 chr 5:65,625,581...65,659,557
Ensembl chr 5:65,657,225...65,658,835 		JBrowse link
G KDM5A lysine demethylase 5A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,628,791...67,716,143
Ensembl chr 5:67,629,380...67,715,905 		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 chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228 		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 chr 5:62,506,001...62,523,969
Ensembl chr 5:62,507,507...62,523,810 		JBrowse link
G LAG3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,929,669...63,935,054
Ensembl chr 5:63,929,625...63,935,410 		JBrowse link
G LOC110258709 C-type lectin domain family 4 member A-like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098
G LOC110258710 C-type lectin domain family 4 member D-like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098
G LPAR5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,049,470...64,060,289
Ensembl chr 5:64,058,501...64,059,604 		JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,707,674...63,746,369
Ensembl chr 5:63,708,020...63,746,103 		JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,809,298...63,836,629
Ensembl chr 5:63,809,546...63,817,225 		JBrowse link
G LRTM2 leucine rich repeats and transmembrane domains 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,821,815...68,836,518
Ensembl chr 5:68,822,539...68,836,514 		JBrowse link
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,271,372...64,278,422
Ensembl chr 5:64,270,310...64,287,523 		JBrowse link
G M6PR mannose-6-phosphate receptor, cation dependent ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,537,751...62,557,674
Ensembl chr 5:62,537,700...62,557,688 		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 chr 5:62,742,520...62,757,522
Ensembl chr 5:62,742,319...62,757,519 		JBrowse link
G MLF2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,951,660...63,957,154
Ensembl chr 5:63,951,722...63,957,141 		JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,167,418...64,168,986
Ensembl chr 5:64,167,200...64,168,983 		JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,931,642...62,939,086
Ensembl chr 5:62,932,382...62,939,082 		JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,900,756...62,905,366 JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,136,505...64,167,410
Ensembl chr 5:64,136,505...64,167,410 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,760,078...65,788,703
Ensembl chr 5:65,759,727...65,788,646 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,122,280...63,135,550
Ensembl chr 5:63,122,335...63,139,664 		JBrowse link
G NOP2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,106,013...64,115,582
Ensembl chr 5:64,106,098...64,115,579 		JBrowse link
G NRIP2 nuclear receptor interacting protein 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,281,032...67,291,524
Ensembl chr 5:67,281,107...67,291,522 		JBrowse link
G NTF3 neurotrophin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,871,506...63,885,294
Ensembl chr 5:63,871,508...63,885,034 		JBrowse link
G PARP11 poly(ADP-ribose) polymerase family member 11 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:66,443,483...66,483,630
Ensembl chr 5:66,443,494...66,483,626 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,542,422...63,562,762
Ensembl chr 5:63,542,431...63,562,849 		JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,751,566...63,756,480
Ensembl chr 5:63,751,558...63,756,478 		JBrowse link
G PHC1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,557,774...62,580,640
Ensembl chr 5:62,557,776...62,580,651 		JBrowse link
G PIANP PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,992,618...63,999,435
Ensembl chr 5:63,992,685...63,999,438 		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 chr 5:64,331,467...64,350,680
Ensembl chr 5:64,332,066...64,350,710 		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 chr 5:66,667,695...66,754,281
Ensembl chr 5:66,667,899...66,838,922 		JBrowse link
G PTMS parathymosin ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,937,092...63,942,112 JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350 		JBrowse link
G RAD51AP1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,872,277...65,897,210
Ensembl chr 5:65,872,539...65,897,212 		JBrowse link
G RAD52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,140,846...68,223,587
Ensembl chr 5:68,143,646...68,169,670 		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 chr 5:63,601,101...63,605,301
Ensembl chr 5:63,601,134...63,612,191 		JBrowse link
G RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,239,907...67,246,150
Ensembl chr 5:67,239,202...67,246,124 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,676,220...62,715,273
Ensembl chr 5:62,676,225...62,715,067 		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 chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,963,635...63,041,955 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 chr 5:67,550,285...67,573,858
Ensembl chr 5:67,550,289...67,572,588 		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 chr 5:67,574,149...67,617,513
Ensembl chr 5:67,577,197...67,614,054 		JBrowse link
G SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,836,785...63,839,075
Ensembl chr 5:63,836,766...63,839,250 		JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,188,184...64,197,033
Ensembl chr 5:64,188,179...64,197,264 		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 chr 5:67,130,392...67,167,579
Ensembl chr 5:67,118,317...67,194,072 		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 chr 5:66,044,679...66,067,571
Ensembl chr 5:66,044,686...66,067,377 		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 chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,838,506...63,843,134 		JBrowse link
G TSPAN9 tetraspanin 9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:66,913,750...67,106,303
Ensembl chr 5:66,913,769...67,106,233 		JBrowse link
G TULP3 TUB like protein 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,201,680...67,238,348
Ensembl chr 5:67,199,448...67,238,322 		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 chr 5:63,843,742...63,858,835
Ensembl chr 5:63,843,745...63,858,716 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,181,496...64,188,275 JBrowse link
G VWF von Willebrand factor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,517,555...64,655,938 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,000,792...68,142,533
Ensembl chr 5:68,000,905...68,140,755 		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 chr 5:68,627,158...68,731,938
Ensembl chr 5:68,627,185...68,732,265 		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 chr 5:64,003,468...64,025,798
Ensembl chr 5:64,003,216...64,025,796 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15436
    Nutritional and Metabolic Diseases 7390
      disease of metabolism 7390
        inherited metabolic disorder 5853
          hyperphosphatemic familial tumoral calcinosis 112
            Hyperphosphatemic Familial Tumoral Calcinosis 1 112
Path 2
Term Annotations click to browse term
  disease 15436
    Developmental Disease 13502
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12625
        genetic disease 12335
          monogenic disease 10566
            autosomal genetic disease 10117
              autosomal recessive disease 6932
                hyperphosphatemic familial tumoral calcinosis 112
                  Hyperphosphatemic Familial Tumoral Calcinosis 1 112
paths to the root