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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:phosphorus metabolism disease
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Accession:DOID:2485 term browser browse the term
Definition:Disorders in the processing of phosphorus in the body: its absorption, transport, storage, and utilization.
Synonyms:exact_synonym: Phosphorus Metabolism Disorder;   Phosphorus Metabolism Disorders;   Phosphorus disorder;   disorder of phosphorus metabolism
 primary_id: MESH:D010760;   RDO:0006341
 xref: ICD9CM:275.3;   NCI:C97095
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by OMIM:193100		 ClinVar
OMIM
RGD		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO
ISS		 ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312		 ClinVar
MouseDO		 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO
ISS		 ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312		 ClinVar
MouseDO		 PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
Familial Hypophosphatemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 TAS RGD PMID:12419819 RGD:1303356 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets		 CTD
ClinVar		 PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS		 OMIM:241530
DNA:deletions, snps:multiple (human)		 MouseDO
RGD		 PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by OMIM:241530		 OMIM
ClinVar		 PMID:2983203 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
Hyperphosphatasia with Mental Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:28492532 More... NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1724113 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 More... NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1
ClinVar Annotator: match by OMIM:239300		 OMIM
ClinVar		 PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 More... NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,890,042...56,895,888
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,823,448...56,861,075
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,176,840...57,185,492
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,675,537...57,680,133 JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,065,739...57,071,880
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,170,417...58,200,947
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,982,409...57,983,186
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,199,931...57,203,964
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Olr834 olfactory receptor 834 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Olr840 olfactory receptor 840 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2
ClinVar Annotator: match by OMIM:614749		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22683086 PMID:24033266 More... NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 3
ClinVar Annotator: match by OMIM:614207		 OMIM
ClinVar		 PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 PMID:25741868 More... NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 4
ClinVar Annotator: match by OMIM:615716		 OMIM
ClinVar		 PMID:22315194 PMID:24439110 PMID:25741868 PMID:27120253 PMID:28327575 More... NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295 		JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617 		JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar
OMIM		 PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:32466763 NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 ClinVar
OMIM		 PMID:25741868 PMID:26293662 NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585 		JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 ClinVar PMID:25741868 PMID:26293662 NCBI chr 4:87,501,859...87,505,494
Ensembl chr 4:87,501,859...87,505,494 		JBrowse link
hyperphosphatemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
G Pth parathyroid hormone IDA
ISO		 associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic 		CTD
RGD		 PMID:12399635 PMID:23548309 PMID:23211335 RGD:7242565, RGD:7242693 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO protein:increased expression:kidney (mouse) RGD PMID:18835926 PMID:20418498 RGD:7242940, RGD:7243099 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
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 More... NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821 		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 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Kl Klotho ISO
ISS		 ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic
OMIM:211900		 ClinVar
MouseDO		 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		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 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213 		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 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341 		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 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355 		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 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		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 4:159,688,049...159,714,067
Ensembl chr 4:159,699,289...159,713,903 		JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,514,200...158,855,639
Ensembl chr 4:158,496,014...158,855,651 		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 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		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 4:153,410,907...153,509,019
Ensembl chr 4:153,409,004...153,509,321 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484 		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 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		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 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701 		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 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		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 4:152,408,657...152,524,614
Ensembl chr 4:152,408,657...152,521,268 		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 4:153,534,184...153,566,059
Ensembl chr 4:153,534,187...153,566,545 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cd9 CD9 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222 		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 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799 		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 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		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 4:156,340,439...156,434,212
Ensembl chr 4:156,414,688...156,432,402 		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 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008 		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 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817 		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 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240 		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 4:156,589,591...156,598,969
Ensembl chr 4:156,589,792...156,598,848 		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 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769 		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 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948 		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 4:160,428,987...160,517,427
Ensembl chr 4:160,408,077...160,518,107 		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 4:152,358,267...152,395,747
Ensembl chr 4:152,358,241...152,397,145 		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 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861 		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 4:159,715,658...159,757,660
Ensembl chr 4:159,715,417...159,757,627 		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 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		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 4:152,763,664...153,055,706
Ensembl chr 4:152,767,419...153,055,639 		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 chr16:70,098,439...70,106,147 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 4:152,662,542...152,666,360
Ensembl chr 4:152,662,542...152,666,360 		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 More... NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821 		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 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447 		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 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833 		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 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518 		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 4:161,639,561...161,652,012
Ensembl chr 4:161,638,816...161,650,684 		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 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		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 4:159,626,438...159,650,327 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 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		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 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937 		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 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		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 4:157,662,200...157,668,341 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 4:157,551,276...157,552,924 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 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302 		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 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265 		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 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310 		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 4:161,684,249...161,698,315
Ensembl chr 4:161,684,249...161,698,422 		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 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682 		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 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697 		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 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189 		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 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422 		JBrowse link
G Kl Klotho ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:17710231 PMID:25741868 PMID:29389098 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		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 4:155,455,465...155,467,301
Ensembl chr 4:155,455,495...155,467,424 		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 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404 		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 4:157,870,493...157,883,970
Ensembl chr 4:157,881,796...157,882,950 		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 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880 		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 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860 		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 4:152,485,863...152,508,248
Ensembl chr 4:152,485,866...152,500,377 		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 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539 		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 4:155,501,080...155,510,219
Ensembl chr 4:155,500,921...155,510,216 		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 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,523,679...157,523,747 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 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317 		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 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116 		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 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020 		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 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018 		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 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068 		JBrowse link
G Ninj2 ninjurin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:153,306,439...153,408,618
Ensembl chr 4:153,306,553...153,408,617 		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 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459 		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 4:161,673,964...161,684,055 JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596 		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 4:157,646,238...157,662,035 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 4:160,298,040...160,344,369
Ensembl chr 4:160,304,905...160,341,946 		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 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272 		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 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959 		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 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842 		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 4:158,163,443...158,182,628
Ensembl chr 4:158,162,969...158,182,271 		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 4:160,535,813...160,618,193
Ensembl chr 4:160,535,813...160,617,930 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009 		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 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984 		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 4:159,759,454...159,772,524
Ensembl chr 4:159,759,459...159,772,524 		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 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207 		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 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382 		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 4:161,634,047...161,639,437
Ensembl chr 4:161,634,048...161,639,371 		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 4:155,664,392...155,706,888 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 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		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 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472 		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 4:154,585,386...154,603,750
Ensembl chr 4:154,585,500...154,603,750 		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 4:154,539,246...154,577,784
Ensembl chr 4:154,540,468...154,576,152 		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 4:157,612,921...157,615,293
Ensembl chr 4:157,613,401...157,615,284 		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 4:158,021,454...158,028,905 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 4:161,474,122...161,572,837
Ensembl chr 4:161,497,851...161,572,323 		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 4:161,651,232...161,663,250 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 4:159,927,138...159,946,094
Ensembl chr 4:159,927,139...159,946,029 		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 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		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 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
G Tspan9 tetraspanin 9 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,813,879...160,995,574
Ensembl chr 4:160,813,879...160,995,501 		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 4:161,590,478...161,632,514
Ensembl chr 4:161,590,479...161,632,149 		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 4:157,619,643...157,634,711
Ensembl chr 4:157,619,643...157,634,711 		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 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349 		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 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		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 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		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 4:152,609,566...152,733,790
Ensembl chr 4:152,609,569...152,733,407 		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 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766 		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 Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2		 ClinVar
OMIM		 PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 More... NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821 		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 chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
hypophosphatemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898264 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:altered expression:renal cortex, brush border membrane (rat)
mRNA:decreased expression:kidney (mouse)		 CTD
RGD		 PMID:9560283 PMID:19515808 PMID:20466874 PMID:9560283 PMID:19933269 RGD:7242939, RGD:7243098, RGD:7243007, RGD:7242942 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic		 ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 More... NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic		 ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar PMID:25050900 PMID:28492532 PMID:30943683 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1
ClinVar Annotator: match by OMIM:612286		 OMIM
ClinVar		 PMID:9536098 PMID:12324554 PMID:16688119 PMID:17576681 PMID:24033266 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3r1 SLC9A3 regulator 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 2 OMIM
ClinVar		 PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598 		JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO RGD PMID:14988389 RGD:10044208 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS
ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets		 ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:241520		 OMIM
ClinVar		 PMID:9536098 PMID:17033621 PMID:17033625 PMID:17576681 PMID:21050253 More... NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
ClinVar Annotator: match by OMIM:613312
DNA:missense mutation:cds:p.Y901S (human)		 ClinVar
OMIM
RGD		 PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:6906930, RGD:6906931 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
Phosphaturia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone IEP protein:decreased expression:serum (rat) RGD PMID:22859939 RGD:8655928 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:
ClinVar Annotator: match by OMIM:307800		 OMIM
ClinVar
RGD		 PMID:188828 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 More... RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked recessive hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive		 ClinVar
OMIM		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:15086899 More... NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        phosphorus metabolism disease 195
          Hyperphosphatasia with Mental Retardation + 64
          Phosphaturia 1
          Renal Phosphate Wasting Disorders 0
          hyperphosphatemia + 118
          hypophosphatemia + 16
Path 2
Term Annotations click to browse term
  disease 17286
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        acquired metabolic disease 2898
          mineral metabolism disease 563
            phosphorus metabolism disease 195
              Hyperphosphatasia with Mental Retardation + 64
              Phosphaturia 1
              Renal Phosphate Wasting Disorders 0
              hyperphosphatemia + 118
              hypophosphatemia + 16
paths to the root