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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		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:18982401 PMID:21880793 PMID:22419710 PMID:24033266 PMID:25445451 PMID:26186302 PMID:26467025 PMID:28492532, PMID:11062477, PMID:19655082 RGD:1598933, RGD:10044239 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082 		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 chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733 		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 PMID:24033266 PMID:28492532 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371 		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 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082 		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:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789 		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 PMID:11468271 PMID:12727977 PMID:18625346 PMID:18775977 PMID:24684036 PMID:25741868 PMID:28492532 PMID:29858904 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982 		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 PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530 		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 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19682379 PMID:20200114 PMID:21168462 PMID:21931507 PMID:22992668 PMID:23180655 PMID:24033266 PMID:24073221 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26911666 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166 		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 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS		 OMIM:241530
DNA:deletions, snps:multiple (human)		 MouseDO PMID:19570882, PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813 		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:16358214 PMID:16358215 PMID:16849419 PMID:18523928 PMID:18996815 PMID:19820004 PMID:20074341 PMID:21344632 PMID:22159077 PMID:24246249 PMID:25741868 PMID:26399350 PMID:26789268 PMID:28492532 PMID:29809158 PMID:33223529 NCBI chr 3:2,448,391...2,454,019
Ensembl chr 3:2,448,381...2,453,933 		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 chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006 		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:24033266 PMID:25741868 PMID:28492532 PMID:28545593 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome		 ClinVar
CTD		 PMID:1724113 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:25741868 NCBI chr 5:151,886,132...151,899,024
Ensembl chr 5:151,886,035...151,898,022 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437 		JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209 		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 8:79,691,407...79,715,284
Ensembl chr 8:79,691,407...79,715,284 		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 chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592 		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 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399 		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 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:24439110 PMID:25741868 PMID:26467025 PMID:27166760 PMID:28492532 NCBI chr 5:151,886,132...151,899,024
Ensembl chr 5:151,886,035...151,898,022 		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:28492532 NCBI chr 5:58,998,209...59,001,779
Ensembl chr 5:58,995,249...59,001,800 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,107,182...58,114,632
Ensembl chr 5:58,107,707...58,113,553 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,943,021...58,950,373
Ensembl chr 5:58,943,027...58,950,373 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,041,114...58,078,687
Ensembl chr 5:58,041,146...58,078,545 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,063,532...59,068,196
Ensembl chr 5:59,063,531...59,068,188 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,098,706...58,106,706
Ensembl chr 5:58,098,706...58,106,706 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992 		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:28492532 NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,018,039...58,019,836
Ensembl chr 5:58,018,039...58,019,836 		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:28492532 NCBI chr 5:58,883,064...58,884,136 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:28492532 NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125 		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:28492532 NCBI chr 5:58,477,894...58,484,900
Ensembl chr 5:58,477,894...58,484,900 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072 		JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 Ensembl chr 5:59,084,626...59,085,676 JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070 		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:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28545593 PMID:28900819 PMID:30109123 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399 		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:28492532 NCBI chr 5:59,080,290...59,088,777
Ensembl chr 5:59,080,765...59,088,523 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,096,037...58,097,577
Ensembl chr 5:58,096,213...58,097,577 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,985,912...58,987,538
Ensembl chr 5:58,985,829...58,987,760 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,937,615...58,943,358
Ensembl chr 5:58,937,615...58,943,358 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,505,449...58,714,396
Ensembl chr 5:58,505,500...58,715,576 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953 		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 PMID:25741869 NCBI chr 1:167,309,021...167,335,550
Ensembl chr 1:167,309,051...167,334,741 		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:26833330 PMID:27120253 PMID:28390064 PMID:29620724 PMID:30217754 PMID:30345601 PMID:32860008 NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006 		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 chr10:71,744,648...71,837,851
Ensembl chr10:71,744,659...71,837,851 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910 		JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,144,042...72,153,496
Ensembl chr10:72,144,042...72,153,375 		JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,156,729...72,188,834
Ensembl chr10:72,156,728...72,188,308 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:71,843,991...71,849,293
Ensembl chr10:71,843,991...71,849,293 		JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,136,241...72,143,075
Ensembl chr10:72,136,246...72,142,533 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,198,475...72,227,892
Ensembl chr10:72,197,977...72,227,462 		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 NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437 		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:26293662 NCBI chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209 		JBrowse link
G Pyurf PIGY upstream reading frame ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 ClinVar PMID:26293662 NCBI chr 4:88,584,242...88,587,877
Ensembl chr 4:88,584,242...88,587,877 		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 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551 		JBrowse link
G Pth parathyroid hormone IDA
ISO		 associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic 		CTD PMID:12399635, PMID:23548309, PMID:23211335 RGD:7242565, RGD:7242693 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761 		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 chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813 		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 PMID:25326637 PMID:29389098 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412 		JBrowse link
G Kl Klotho ISO
ISS		 ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic
OMIM:211900		 ClinVar
MouseDO		 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,563,990...157,577,045
Ensembl chr 4:157,563,990...157,568,023 		JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 1:189,432,604...189,458,799
Ensembl chr 1:189,432,604...189,457,048 		JBrowse link
G Adipor2 adiponectin receptor 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671 		JBrowse link
G Akap3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,399,686...159,425,512
Ensembl chr 4:159,403,501...159,425,629 		JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,222,650...158,577,595
Ensembl chr 4:158,224,000...158,576,978 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755 		JBrowse link
G B4galnt3 beta-1,4-N-acetyl-galactosaminyl transferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,736,036...152,835,521
Ensembl chr 4:152,737,161...152,835,182 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263 		JBrowse link
G Ccdc77 coiled-coil domain containing 77 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,860,669...152,892,518
Ensembl chr 4:152,860,675...152,883,210 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088 		JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176 		JBrowse link
G Cd9 CD9 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659 		JBrowse link
G Clec4a C-type lectin domain family 4, member A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,049,800...156,069,260
Ensembl chr 4:156,050,054...156,069,313 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,947,794...155,959,909
Ensembl chr 4:155,947,453...155,959,993 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,913,366...155,923,079
Ensembl chr 4:155,913,366...155,923,079 		JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,107,720...156,131,226
Ensembl chr 4:156,107,620...156,131,583 		JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,253,084...156,264,766
Ensembl chr 4:156,253,079...156,264,769 		JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,271,087...156,276,243
Ensembl chr 4:156,270,920...156,276,304 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,479,549...157,486,944
Ensembl chr 4:157,479,549...157,486,914 		JBrowse link
G Cracr2a calcium release activated channel regulator 2A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,143,160...160,238,744
Ensembl chr 4:160,168,297...160,194,038 		JBrowse link
G Dcp1b decapping mRNA 1B ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,249,654...151,287,018
Ensembl chr 4:151,250,041...151,285,702 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,437,675...155,441,059
Ensembl chr 3:111,298,713...111,299,189
Ensembl chr 4:111,298,713...111,299,189 		JBrowse link
G Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,426,447...159,467,973
Ensembl chr 4:159,427,340...159,467,955 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047 		JBrowse link
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,087,393...152,380,023
Ensembl chr 4:152,087,379...152,380,184 		JBrowse link
G Fam90a1 family with sequence similarity 90, member A1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr16:75,001,033...75,016,173 JBrowse link
G Fbxl14 F-box and leucine-rich repeat protein 14 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,986,890...151,990,706 JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1		 ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25378588 PMID:29389098 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,563,798...159,572,333
Ensembl chr 4:159,563,798...159,572,333 		JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,748,993...161,757,447
Ensembl chr 4:161,748,993...161,757,447 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,653,446...155,679,815
Ensembl chr 4:155,653,718...155,679,793 		JBrowse link
G Foxm1 forkhead box M1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,685,236...161,697,633
Ensembl chr 4:161,685,258...161,696,305 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 OMIM
ClinVar		 PMID:3839626 PMID:3998061 PMID:8338191 PMID:13774168 PMID:15133511 PMID:15599692 PMID:15687324 PMID:16528452 PMID:16940445 PMID:17311862 PMID:17351710 PMID:18618993 PMID:20358599 PMID:24668887 PMID:25326635 PMID:25351881 PMID:25741868 PMID:26337219 PMID:28492532 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412 		JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,340,750...159,362,350 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,375,184...157,381,780
Ensembl chr 4:157,375,184...157,381,105 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018 		JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,659,115...157,676,335
Ensembl chr 4:157,659,147...157,676,331 		JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,554,729...157,563,353
Ensembl chr 4:157,554,794...157,563,352 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:153,948,052...154,044,493
Ensembl chr 4:153,948,055...154,044,493 		JBrowse link
G Itfg2 integrin alpha FG-GAP repeat containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,730,643...161,744,281
Ensembl chr 4:161,730,641...161,743,896 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,253,934...159,287,193
Ensembl chr 4:159,253,934...159,287,193 		JBrowse link
G Kdm5a lysine demethylase 5A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201 		JBrowse link
G Kl Klotho ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:17710231 PMID:25741868 PMID:29389098 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551 		JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,038,936...155,051,449
Ensembl chr 4:155,039,628...155,051,429 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,425,644...157,433,700
Ensembl chr 4:157,425,644...157,433,467 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,581,000...157,596,454
Ensembl chr 4:157,594,436...157,595,972 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653 		JBrowse link
G Lrtm2 leucine-rich repeats and transmembrane domains 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,375,568...151,397,485
Ensembl chr 4:151,375,572...151,390,263 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241 		JBrowse link
G M6pr mannose-6-phosphate receptor, cation dependent ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,084,755...155,093,896
Ensembl chr 4:155,088,317...155,092,827 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,313,671...155,336,228
Ensembl chr 4:155,313,671...155,336,228 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,236,786...157,236,854 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,452,578...157,457,254
Ensembl chr 4:157,452,607...157,457,249 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,705,790...157,709,452
Ensembl chr 4:157,705,790...157,708,748 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268 		JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,682,855...157,705,903
Ensembl chr 4:157,683,077...157,704,596 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,371,263...159,399,636
Ensembl chr 4:159,371,259...159,399,634 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790 		JBrowse link
G Ninj2 ninjurin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,630,464...152,733,631
Ensembl chr 4:152,630,469...152,733,633 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,646,759...157,658,502
Ensembl chr 4:157,647,082...157,658,390 		JBrowse link
G Nrip2 nuclear receptor interacting protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,719,434...161,729,673
Ensembl chr 4:161,720,501...161,729,192 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861 		JBrowse link
G Parp11 poly (ADP-ribose) polymerase family, member 11 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,013,968...160,059,981
Ensembl chr 4:160,020,472...160,058,729 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367 		JBrowse link
G Phc1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,093,947...155,118,838
Ensembl chr 4:155,093,949...155,116,154 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,508,862...157,517,676
Ensembl chr 4:157,511,642...157,517,669 		JBrowse link
G Plekhg6 pleckstrin homology and RhoGEF domain containing G6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,877,725...157,897,167
Ensembl chr 4:157,878,182...157,894,448 		JBrowse link
G Prmt8 protein arginine methyltransferase 8 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,253,409...160,334,647
Ensembl chr 4:160,253,073...160,334,910 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,435,371...157,439,507
Ensembl chr 4:157,435,373...157,439,507 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890 		JBrowse link
G Rad51ap1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,469,803...159,482,869
Ensembl chr 4:159,469,804...159,482,869 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609 		JBrowse link
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,483,089...159,518,387
Ensembl chr 4:159,483,131...159,515,447 		JBrowse link
G Rhno1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,679,674...161,685,060
Ensembl chr 4:161,680,027...161,681,660 		JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,258,241...155,292,809
Ensembl chr 4:155,260,103...155,275,161 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856 		JBrowse link
G Slc6a12 solute carrier family 6 member 12 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:153,921,199...153,941,333
Ensembl chr 4:153,921,115...153,941,391 		JBrowse link
G Slc6a13 solute carrier family 6 member 13 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:153,874,942...153,912,185
Ensembl chr 4:153,874,852...153,912,155 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,325,980...157,328,380
Ensembl chr 4:157,326,727...157,328,379 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199 		JBrowse link
G Tead4 TEA domain transcription factor 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,542,566...161,619,848
Ensembl chr 4:161,540,130...161,587,222 		JBrowse link
G Tex52 testis expressed 52 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,696,884...161,708,793
Ensembl chr 4:161,696,903...161,705,690 		JBrowse link
G Tigar TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,635,145...159,654,108
Ensembl chr 4:159,635,153...159,654,063 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905 		JBrowse link
G Tspan9 tetraspanin 9 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,530,726...160,725,056
Ensembl chr 4:160,530,720...160,662,974 		JBrowse link
G Tulp3 TUB like protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,636,084...161,677,807
Ensembl chr 4:161,637,892...161,658,519 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,332,735...157,347,803
Ensembl chr 4:157,332,740...157,347,803 		JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446 		JBrowse link
G Wnt5b Wnt family member 5B ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,500,962...151,516,894
Ensembl chr 4:151,500,957...151,516,894 		JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,523,083...157,552,606
Ensembl chr 4:157,523,110...157,552,596 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 ClinVar
OMIM		 PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 PMID:18682534 PMID:18982401 PMID:19837926 PMID:22419710 PMID:24033266 PMID:25445451 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29389098 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl Klotho ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 OMIM
ClinVar		 PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551 		JBrowse link
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 chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545 		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 PMID:9560283, PMID:19515808, PMID:20466874, PMID:9560283, PMID:19933269 RGD:7242939, RGD:7243098, RGD:7243007, RGD:7242942 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813 		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 PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813 		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:28492532 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420 		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:12324554 PMID:16688119 PMID:24033266 PMID:25082825 PMID:25741868 PMID:26047794 PMID:26272126 PMID:27378183 PMID:28492532 PMID:28893421 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813 		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
ClinVar Annotator: match by OMIM:612287		 OMIM
ClinVar		 PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 NCBI chr10:103,713,045...103,730,145
Ensembl chr10:103,713,045...103,730,145 		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 chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO RGD PMID:14988389 RGD:10044208 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082 		JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:25741868 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982 		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 PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530 		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 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19682379 PMID:20200114 PMID:21168462 PMID:21931507 PMID:22992668 PMID:23180655 PMID:24033266 PMID:24073221 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26911666 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166 		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:17033621 PMID:17033625 PMID:21050253 PMID:25741868 PMID:28492532 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733 		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		 PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:16025115 PMID:16315058 PMID:16607460 PMID:16968801 PMID:19229237 PMID:20016754 PMID:20137772 PMID:20137773 PMID:24033266 PMID:25741868 PMID:27467858 PMID:28492532, PMID:20137773, PMID:20137772 RGD:6906930, RGD:6906931 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371 		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 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761 		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 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747 		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 chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737 		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		 PMID:188828 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768646 PMID:9768674 PMID:10439971 PMID:10737991 PMID:11004247 PMID:11468271 PMID:11502821 PMID:11502829 PMID:12727977 PMID:14564066 PMID:14564077 PMID:16055933 PMID:16303832 PMID:16636593 PMID:18162710 PMID:18252791 PMID:18625346 PMID:19219621 PMID:21050253 PMID:21902834 PMID:21994957 PMID:22261628 PMID:22695891 PMID:23079138 PMID:23466123 PMID:24033266 PMID:24102521 PMID:24684036 PMID:24756041 PMID:24857004 PMID:24926462 PMID:25525159 PMID:25741868 PMID:25839938 PMID:26040324 PMID:26051471 PMID:26377240 PMID:26467025 PMID:27840894 PMID:28492532 PMID:28506344 PMID:29393334 PMID:29460029 PMID:29505567 PMID:29858904 PMID:30298486 PMID:30607568 PMID:30682568 PMID:30920082, PMID:22573557, PMID:9063736, PMID:9106524, PMID:7550339 RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982 		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 PMID:16822791 PMID:19546591 PMID:24081861 PMID:25741868 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        phosphorus metabolism disease 183
          Hyperphosphatasia with Mental Retardation + 53
          Phosphaturia 1
          Renal Phosphate Wasting Disorders 0
          hyperphosphatemia + 118
          hypophosphatemia + 15
Path 2
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        acquired metabolic disease 2753
          mineral metabolism disease 436
            phosphorus metabolism disease 183
              Hyperphosphatasia with Mental Retardation + 53
              Phosphaturia 1
              Renal Phosphate Wasting Disorders 0
              hyperphosphatemia + 118
              hypophosphatemia + 15
paths to the root