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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:calcium metabolism disease
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Accession:DOID:10575 term browser browse the term
Definition:Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.
Synonyms:exact_synonym: calcium metabolism disorder;   calcium metabolism disorders
 primary_id: MESH:D002128
 alt_id: RDO:0001607
 xref: EFO:0005769;   ICD9CM:275.4
For additional species annotation, visit the Alliance of Genome Resources.


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Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17660818 PMID:17846997 PMID:20131292 PMID:21270825 More... NCBI chrNW_004936529:245,134...264,456
Ensembl chrNW_004936529:245,092...264,351
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004936599:3,767,526...3,775,416
Ensembl chrNW_004936599:3,766,242...3,776,128
JBrowse link
G Rnaseh2a ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chrNW_004936659:1,897,777...1,905,526
Ensembl chrNW_004936659:1,897,769...1,905,457
JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016
JBrowse link
G Rnaseh2c ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chrNW_004936599:3,766,330...3,767,453
Ensembl chrNW_004936599:3,766,242...3,767,345
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004936561:4,180,607...4,238,623
Ensembl chrNW_004936561:4,180,546...4,229,036
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chrNW_004936561:4,229,945...4,241,425
Ensembl chrNW_004936561:4,230,257...4,241,425
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17660818 PMID:17846997 PMID:20131292 PMID:21270825 More... NCBI chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936807:1,090,928...1,116,166
Ensembl chrNW_004936807:1,090,882...1,114,770
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,331,610...1,335,058
Ensembl chrNW_004936529:1,332,874...1,334,403
JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,049,364...1,054,458 JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,289,810...1,298,798
Ensembl chrNW_004936529:1,289,827...1,298,798
JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:648,661...713,616
Ensembl chrNW_004936529:648,675...713,675
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chrNW_004936529:245,134...264,456
Ensembl chrNW_004936529:245,092...264,351
JBrowse link
G Bsn bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,182,872...1,287,794
Ensembl chrNW_004936529:1,182,810...1,280,657
JBrowse link
G Camkv CaM kinase like vesicle associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,466,460...1,479,798
Ensembl chrNW_004936529:1,464,716...1,479,808
JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:857,932...862,976
Ensembl chrNW_004936529:859,274...860,656
JBrowse link
G Cdhr4 cadherin related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,399,611...1,406,876
Ensembl chrNW_004936529:1,399,611...1,406,876
JBrowse link
G Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:437,476...464,012
Ensembl chrNW_004936529:437,418...464,017
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:348,938...381,701 JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:934,641...940,858
Ensembl chrNW_004936529:936,848...940,367
JBrowse link
G CUNH3orf84 chromosome unknown C3orf84 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:872,150...884,123
Ensembl chrNW_004936529:872,837...884,879
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124
JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:740,861...744,461
Ensembl chrNW_004936529:740,975...745,427
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,336,002...1,338,615
Ensembl chrNW_004936529:1,336,002...1,338,400
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,779,582...1,801,251
Ensembl chrNW_004936529:1,779,571...1,801,255
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,735,258...1,740,297
Ensembl chrNW_004936529:1,735,440...1,742,567
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,838,212...1,842,399
Ensembl chrNW_004936529:1,838,676...1,841,188
JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,831,639...1,837,314
Ensembl chrNW_004936529:1,831,254...1,837,314
JBrowse link
G Ifrd2 interferon related developmental regulator 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,825,107...1,831,112
Ensembl chrNW_004936529:1,823,679...1,830,879
JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:905,692...929,896
Ensembl chrNW_004936529:889,423...929,929
JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:748,777...753,582
Ensembl chrNW_004936529:745,511...753,581
JBrowse link
G Inka1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,410,244...1,412,023
Ensembl chrNW_004936529:1,410,201...1,412,023
JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,338,812...1,396,981
Ensembl chrNW_004936529:1,338,812...1,396,965
JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:487,277...515,614
Ensembl chrNW_004936529:486,879...515,674
JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:863,052...872,067
Ensembl chrNW_004936529:863,045...872,289
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337
JBrowse link
G LOC101956274 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:385,942...396,196
Ensembl chrNW_004936529:385,851...396,230
JBrowse link
G Lsmem2 leucine rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,819,848...1,825,472 JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,513,796...1,527,121
Ensembl chrNW_004936529:1,513,753...1,527,506
JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,298,853...1,306,088
Ensembl chrNW_004936529:1,299,300...1,303,959
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,494,748...1,509,925
Ensembl chrNW_004936529:1,495,059...1,509,901
JBrowse link
G Naa80 N-alpha-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,834,308...1,837,248
Ensembl chrNW_004936529:1,834,349...1,837,182
JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:474,978...485,333
Ensembl chrNW_004936529:471,913...485,389
JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:746,620...748,145
Ensembl chrNW_004936529:747,021...748,695
JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,054,568...1,059,575
Ensembl chrNW_004936529:1,052,090...1,059,617
JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:716,407...732,010
Ensembl chrNW_004936529:716,433...731,795
JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:304,090...346,281
Ensembl chrNW_004936529:303,843...342,935
JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:528,138...601,078
Ensembl chrNW_004936529:528,114...601,122
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265
JBrowse link
G Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:753,842...802,405
Ensembl chrNW_004936529:753,844...801,861
JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,639,919...1,672,143
Ensembl chrNW_004936529:1,639,880...1,672,282
JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,534,816...1,635,012
Ensembl chrNW_004936529:1,534,657...1,635,071
JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681
JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,306,849...1,336,032
Ensembl chrNW_004936529:1,306,968...1,336,032
JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,806,535...1,818,352
Ensembl chrNW_004936529:1,802,982...1,818,736
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,704,523...1,733,465
Ensembl chrNW_004936529:1,704,476...1,733,941
JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:266,671...292,103
Ensembl chrNW_004936529:266,456...269,732
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:607,035...631,872
Ensembl chrNW_004936529:606,804...631,991
JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:425,839...435,590
Ensembl chrNW_004936529:424,720...435,293
JBrowse link
G Slc38a3 solute carrier family 38 member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,749,919...1,765,885
Ensembl chrNW_004936529:1,749,853...1,768,476
JBrowse link
G Tcta T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,045,735...1,047,922
Ensembl chrNW_004936529:1,045,798...1,050,384
JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:422,145...424,320
Ensembl chrNW_004936529:423,025...423,958
JBrowse link
G Traip TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,434,629...1,466,382 JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 OMIM
ClinVar
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422
JBrowse link
G Uba7 ubiquitin like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,412,196...1,421,216
Ensembl chrNW_004936529:1,412,194...1,421,197
JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:347,411...348,040 JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:814,649...826,008
Ensembl chrNW_004936529:813,951...826,014
JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:941,042...989,781
Ensembl chrNW_004936529:938,501...989,884
JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:731,958...741,334
Ensembl chrNW_004936529:730,716...745,427
JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016
JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn3 actinin alpha 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,033,854...3,046,364
Ensembl chrNW_004936599:3,029,202...3,046,385
JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,146,162...2,149,527
Ensembl chrNW_004936599:2,145,865...2,149,576
JBrowse link
G Aip aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,274,451...2,280,486
Ensembl chrNW_004936599:2,274,448...2,280,504
JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,086,874...2,101,173
Ensembl chrNW_004936599:2,085,736...2,101,302
JBrowse link
G Ankrd13d ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,423,095...2,434,534
Ensembl chrNW_004936599:2,423,048...2,434,897
JBrowse link
G Ano1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:647,230...726,371
Ensembl chrNW_004936599:648,659...719,310
JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,750,553...3,753,601
Ensembl chrNW_004936599:3,750,512...3,754,291
JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,257,329...3,259,614
Ensembl chrNW_004936599:3,257,329...3,259,719
JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,553,190...3,555,167
Ensembl chrNW_004936599:3,553,193...3,555,162
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299
JBrowse link
G Brms1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,259,868...3,267,172
Ensembl chrNW_004936599:3,259,835...3,267,676
JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,246,139...2,250,963
Ensembl chrNW_004936599:2,246,177...2,250,865
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322
JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,178,963...4,201,037
Ensembl chrNW_004936599:4,178,901...4,201,052
JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,322,797...2,331,604
Ensembl chrNW_004936599:2,322,815...2,331,599
JBrowse link
G Catsper1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,529,621...3,538,291 JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,649,372...3,650,408
Ensembl chrNW_004936599:3,649,613...3,650,221
JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,005,067...3,008,053 JBrowse link
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 Ensembl chrNW_004936599:973,838...983,316 JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,992,740...3,005,230
Ensembl chrNW_004936599:2,988,025...3,005,599
JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,284,695...3,287,022 JBrowse link
G Cdk2ap2 cyclin dependent kinase 2 associated protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,257,731...2,259,883
Ensembl chrNW_004936599:2,257,671...2,259,886
JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,678,724...3,682,314
Ensembl chrNW_004936599:3,677,804...3,682,307
JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,031,953...2,068,423
Ensembl chrNW_004936599:2,001,673...2,067,399
JBrowse link
G Clcf1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,372,889...2,376,316
Ensembl chrNW_004936599:2,372,031...2,376,939
JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,310,873...3,316,575
Ensembl chrNW_004936599:3,310,872...3,316,573
JBrowse link
G Coro1b coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,307,974...2,312,487
Ensembl chrNW_004936599:2,307,761...2,312,938
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119
JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418
JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,026,837...3,033,735
Ensembl chrNW_004936599:3,029,327...3,033,272
JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,657,255...3,661,007
Ensembl chrNW_004936599:3,657,453...3,660,922
JBrowse link
G CUNH11orf24 chromosome unknown C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,869,034...1,879,011 JBrowse link
G CUNH11orf68 chromosome unknown C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,624,401...3,626,237
Ensembl chrNW_004936599:3,624,428...3,626,237
JBrowse link
G CUNH11orf86 chromosome unknown C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,664,951...2,665,843
Ensembl chrNW_004936599:2,664,951...2,665,843
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,063,030...4,078,159
Ensembl chrNW_004936599:4,062,764...4,078,228
JBrowse link
G Dpp3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,076,909...3,098,012
Ensembl chrNW_004936599:3,076,909...3,097,785
JBrowse link
G Drap1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,621,549...3,622,824
Ensembl chrNW_004936599:3,621,423...3,622,874
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,663,288...3,670,048
Ensembl chrNW_004936599:3,663,326...3,670,047
JBrowse link
G Ehbp1l1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,867,185...3,882,712
Ensembl chrNW_004936599:3,867,005...3,882,732
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,555,273...3,558,443
Ensembl chrNW_004936599:3,555,273...3,562,842
JBrowse link
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:633,501...639,412
Ensembl chrNW_004936599:633,330...639,456
JBrowse link
G Fgf19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:923,943...932,428
Ensembl chrNW_004936599:923,943...932,321
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:868,634...875,464
Ensembl chrNW_004936599:868,634...875,464
JBrowse link
G Fgf4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:894,091...895,676 JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,652,889...3,657,171
Ensembl chrNW_004936599:3,652,839...3,660,645
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,642,504...3,649,294
Ensembl chrNW_004936599:3,642,504...3,648,417
JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,019,651...4,033,352
Ensembl chrNW_004936599:4,014,355...4,032,866
JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,563,270...1,567,618
Ensembl chrNW_004936599:1,563,270...1,566,158
JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,498,011...3,512,550
Ensembl chrNW_004936599:3,498,005...3,504,901
JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,301,232...2,303,547
Ensembl chrNW_004936599:2,300,120...2,302,731
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,437,061...2,456,141
Ensembl chrNW_004936599:2,437,032...2,456,147
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,406,815...1,439,764
Ensembl chrNW_004936599:1,406,802...1,439,774
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,767,526...3,775,416
Ensembl chrNW_004936599:3,766,242...3,776,128
JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,864,110...3,866,998
Ensembl chrNW_004936599:3,864,097...3,866,994
JBrowse link
G Kdm2a lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,466,427...2,576,623
Ensembl chrNW_004936599:2,466,214...2,576,623
JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,325,013...3,334,366
Ensembl chrNW_004936599:3,325,015...3,334,434
JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,928,172...1,983,983
Ensembl chrNW_004936599:1,928,145...1,984,008
JBrowse link
G LOC110596870 RNA-binding protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,968,178...2,984,033
Ensembl chrNW_004936599:2,975,350...2,984,060
JBrowse link
G Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,781,439...2,784,627
Ensembl chrNW_004936599:2,780,745...2,784,627
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471
JBrowse link
G Lto1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:961,060...965,274
Ensembl chrNW_004936599:961,113...965,274
JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,847,637...3,862,895
Ensembl chrNW_004936599:3,848,334...3,863,005
JBrowse link
G Mrgprd MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,384,216...1,385,296 JBrowse link
G Mrgprf MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,361,858...1,369,277
Ensembl chrNW_004936599:1,361,823...1,369,300
JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,134,791...3,136,470
Ensembl chrNW_004936599:3,134,607...3,137,448
JBrowse link
G Mrpl21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,440,207...1,448,424
Ensembl chrNW_004936599:1,440,156...1,448,472
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,670,759...3,677,375
Ensembl chrNW_004936599:3,670,862...3,677,239
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,081,493...2,085,635
Ensembl chrNW_004936599:2,081,079...2,084,730
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,169,434...2,173,090
Ensembl chrNW_004936599:2,167,173...2,173,227
JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,144,829...3,150,307
Ensembl chrNW_004936599:3,144,793...3,150,377
JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,159,654...2,161,657 JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,732,335...3,742,749
Ensembl chrNW_004936599:3,731,083...3,742,770
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,345,242...3,379,634
Ensembl chrNW_004936599:3,344,037...3,379,671
JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,677,770...2,793,033
Ensembl chrNW_004936599:2,677,583...2,793,197
JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,825,376...3,847,592
Ensembl chrNW_004936599:3,825,376...3,847,283
JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,099,256...3,110,566
Ensembl chrNW_004936599:3,099,256...3,110,565
JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,262,210...2,273,933
Ensembl chrNW_004936599:2,262,204...2,276,203
JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,105,365...4,132,079
Ensembl chrNW_004936599:4,105,301...4,132,054
JBrowse link
G Pold4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,383,919...2,385,705
Ensembl chrNW_004936599:2,383,792...2,386,537
JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,345,982...2,348,494
Ensembl chrNW_004936599:2,344,552...2,348,494
JBrowse link
G Ppp6r3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,603,700...1,739,224
Ensembl chrNW_004936599:1,602,430...1,697,221
JBrowse link
G Ptprcap protein tyrosine phosphatase receptor type C associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,312,570...2,315,053
Ensembl chrNW_004936599:2,312,896...2,315,028
JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,317,258...3,324,208
Ensembl chrNW_004936599:3,317,258...3,324,213
JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,348,869...2,353,907
Ensembl chrNW_004936599:2,345,646...2,354,029
JBrowse link
G Rbm4b RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,934,951...2,945,753
Ensembl chrNW_004936599:2,935,397...2,945,345
JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,794,947...2,798,121
Ensembl chrNW_004936599:2,793,215...2,798,707
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,603,800...2,611,686
Ensembl chrNW_004936599:2,603,636...2,611,692
JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,267,223...3,274,359
Ensembl chrNW_004936599:3,268,122...3,272,444
JBrowse link
G Rnaseh2c ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chrNW_004936599:3,766,330...3,767,453
Ensembl chrNW_004936599:3,766,242...3,767,345
JBrowse link
G Rps6kb2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,315,146...2,321,127
Ensembl chrNW_004936599:2,315,146...2,321,152
JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,577,552...3,588,825
Ensembl chrNW_004936599:3,577,480...3,588,706
JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,918,325...3,928,415
Ensembl chrNW_004936599:3,918,469...3,928,421
JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,477,882...3,494,366
Ensembl chrNW_004936599:3,477,589...3,494,354
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,813,350...3,825,319
Ensembl chrNW_004936599:3,813,596...3,822,170
JBrowse link
G Slc25a45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,038,080...4,043,268
Ensembl chrNW_004936599:4,037,880...4,043,266
JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,210,463...3,221,012
Ensembl chrNW_004936599:3,211,939...3,223,348
JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,890,404...2,928,502
Ensembl chrNW_004936599:2,890,817...2,928,499
JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,414,128...2,422,183
Ensembl chrNW_004936599:2,414,090...2,422,361
JBrowse link
G Syt12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,617,083...2,637,355
Ensembl chrNW_004936599:2,615,075...2,637,422
JBrowse link
G Tbc1d10c TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,338,131...2,344,134
Ensembl chrNW_004936599:2,338,752...2,344,134
JBrowse link
G Tbx10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,152,281...2,158,332
Ensembl chrNW_004936599:2,152,272...2,158,332
JBrowse link
G Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,070,211...2,079,169
Ensembl chrNW_004936599:2,066,847...2,079,206
JBrowse link
G Tesmin testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,537,307...1,560,971
Ensembl chrNW_004936599:1,537,307...1,560,960
JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,058,345...4,061,157
Ensembl chrNW_004936599:4,058,692...4,060,107
JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,288,840...2,293,390
Ensembl chrNW_004936599:2,288,838...2,293,367
JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,298,799...3,303,912
Ensembl chrNW_004936599:3,297,694...3,303,938
JBrowse link
G Top6bl TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,798,185...2,875,995
Ensembl chrNW_004936599:2,798,340...2,876,370
JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,301,937...1,343,046
Ensembl chrNW_004936599:1,318,169...1,343,106
JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,589,017...3,600,067 JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,109,292...2,146,006
Ensembl chrNW_004936599:2,109,292...2,117,143
JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,305,946...3,310,498
Ensembl chrNW_004936599:3,305,925...3,310,836
JBrowse link
G Zdhhc24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,047,011...3,054,512
Ensembl chrNW_004936599:3,047,011...3,054,498
JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,886,898...3,888,642
Ensembl chrNW_004936599:3,886,892...3,888,866
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,943,673...1,945,994
Ensembl chrNW_004936659:1,941,372...1,946,087
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
JBrowse link
G Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,919,191...1,943,440
Ensembl chrNW_004936659:1,918,420...1,946,087
JBrowse link
G Rnaseh2a ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition OMIM
ClinVar
PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chrNW_004936659:1,897,777...1,905,526
Ensembl chrNW_004936659:1,897,769...1,905,457
JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,907,933...1,911,690
Ensembl chrNW_004936659:1,907,936...1,911,994
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,962,055...1,978,743
Ensembl chrNW_004936659:1,961,243...1,978,743
JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blcap BLCAP apoptosis inducing factor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,735,449...3,746,028
Ensembl chrNW_004936561:3,732,134...3,746,028
JBrowse link
G Ctnnbl1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,434,232...3,589,341
Ensembl chrNW_004936561:3,434,731...3,589,341
JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,946,256...3,954,472
Ensembl chrNW_004936561:3,950,340...3,952,405
JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,898,666...3,915,215
Ensembl chrNW_004936561:3,914,033...3,915,138
JBrowse link
G Mroh8 maestro heat like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:4,020,258...4,083,045
Ensembl chrNW_004936561:4,020,333...4,079,808
JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,739,664...3,744,015
Ensembl chrNW_004936561:3,739,664...3,742,154
JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:4,108,393...4,157,993
Ensembl chrNW_004936561:4,107,861...4,157,647
JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,960,979...4,020,792
Ensembl chrNW_004936561:3,960,818...4,021,369
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004936561:4,180,607...4,238,623
Ensembl chrNW_004936561:4,180,546...4,229,036
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,826,802...3,844,406
Ensembl chrNW_004936561:3,825,787...3,844,483
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936561:4,229,945...4,241,425
Ensembl chrNW_004936561:4,230,257...4,241,425
JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar
PMID:9536098 PMID:9889202 PMID:15146470 PMID:15955093 PMID:16817193 More... NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435
JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 OMIM
ClinVar
PMID:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 More... NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lsm11 LSM11, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar
PMID:33230297 NCBI chrNW_004936515:5,448,490...5,459,295 JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chrNW_004936709:884,741...886,617
Ensembl chrNW_004936709:884,741...886,895
JBrowse link
Albright's hereditary osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971027 neuroendocrine secretory protein 55 ISO ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A OMIM
ClinVar
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 More... NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Pthlh parathyroid hormone like hormone ISO OMIM:103580 MouseDO NCBI chrNW_004936760:197,525...209,212
Ensembl chrNW_004936760:197,525...209,518
JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G OMIM
ClinVar
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chrNW_004936541:7,867,856...7,916,145
Ensembl chrNW_004936541:7,867,303...7,916,154
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709
JBrowse link
Aortic Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
JBrowse link
G Agt angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chrNW_004936588:612,255...614,894
Ensembl chrNW_004936588:611,725...617,782
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chrNW_004937067:194,375...246,607 JBrowse link
G Grp gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chrNW_004936497:5,473,293...5,487,344
Ensembl chrNW_004936497:5,476,800...5,487,358
JBrowse link
G Gsn gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chrNW_004936487:9,749,755...9,802,787
Ensembl chrNW_004936487:9,764,944...9,802,841
JBrowse link
G Sod1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867
JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
JBrowse link
G Vkorc1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chrNW_004936501:13,459,400...13,461,864
Ensembl chrNW_004936501:13,459,022...13,462,174
JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chrNW_004936669:2,474,381...2,613,541
Ensembl chrNW_004936669:2,476,818...2,580,891
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chrNW_004937067:194,375...246,607 JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28387797 PMID:28492532 PMID:30675029 NCBI chrNW_004936514:10,061,675...10,070,541
Ensembl chrNW_004936514:10,061,675...10,070,541
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition OMIM
ClinVar
PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More... NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More... NCBI chrNW_004936478:10,887,900...10,939,510
Ensembl chrNW_004936478:10,888,045...10,939,564
JBrowse link
arterial calcification of infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25758222 NCBI chrNW_004936501:3,469,928...3,508,577 JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Idiopathic infantile arterial calcification ClinVar PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chrNW_004937067:194,375...246,607 JBrowse link
autosomal dominant hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin X-linked ISO RGD PMID:15721149 RGD:1599092 NCBI chrNW_004936470:1,169,906...1,174,166
Ensembl chrNW_004936470:1,169,906...1,179,604
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO RGD PMID:2106357 RGD:6483581 NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155
JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypocalcemia ClinVar PMID:11136551 PMID:11701698 PMID:12067826 PMID:12574188 PMID:12733714 More... NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
JBrowse link
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO RGD PMID:11416220 RGD:734871 NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
JBrowse link
autosomal dominant hypocalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL ClinVar
OMIM
PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More... NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
JBrowse link
autosomal dominant hypocalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 OMIM
ClinVar
PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 More... NCBI chrNW_004936588:1,770,777...1,789,143
Ensembl chrNW_004936588:1,770,771...1,789,170
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome ClinVar PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant OMIM
ClinVar
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers 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, Recessive ClinVar NCBI chrNW_004936905:419,478...427,335
Ensembl chrNW_004936905:420,354...427,324
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chrNW_004937067:194,375...246,607 JBrowse link
basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chrNW_004936785:177,134...285,467
Ensembl chrNW_004936785:181,127...285,209
JBrowse link
Calcification of Aortic Valve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chrNW_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
JBrowse link
G Dll4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Meis2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chrNW_004936471:800,510...1,006,054
Ensembl chrNW_004936471:798,739...1,006,047
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 RGD:13207434 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Pth parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
JBrowse link
G Ptpn1 protein tyrosine phosphatase non-receptor type 1 ISO protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chrNW_004936514:4,065,455...4,083,847
Ensembl chrNW_004936514:4,068,238...4,084,009
JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chrNW_004936783:1,117,835...1,130,739
Ensembl chrNW_004936783:1,117,829...1,131,213
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
JBrowse link
calcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahsg alpha 2-HS glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16177000 NCBI chrNW_004936578:3,332,934...3,339,903
Ensembl chrNW_004936578:3,332,934...3,339,903
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 NCBI chrNW_004936474:7,209,196...7,229,899
Ensembl chrNW_004936474:7,209,093...7,229,989
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO CTD Direct Evidence: marker/mechanism
associated with hypertension;protein:undercarboxylated:serum
protein:increased expression:dermis:
CTD
RGD
PMID:18422975 PMID:20197689 PMID:21335463 RGD:6483566 RGD:9068449 NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 PMID:31843813 NCBI chrNW_004936485:12,428,765...12,439,570
Ensembl chrNW_004936485:12,428,710...12,439,454
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
JBrowse link
G C6 complement C6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936518:1,471,116...1,532,733
Ensembl chrNW_004936518:1,471,355...1,532,439
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Ccl15 C-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936490:298,270...302,147 JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936778:847,473...943,038 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593
JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12148126 NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO associated with Breast Neoplasms;protein:increased expression:breast RGD PMID:18256879 RGD:2289923 NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956
JBrowse link
G Fcgr1a Fc fragment of IgG receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936580:115,552...144,970
Ensembl chrNW_004936580:115,450...145,785
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657
JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) RGD PMID:17825092 RGD:2306608 NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chrNW_004936574:1,465,981...1,495,717
Ensembl chrNW_004936574:1,465,897...1,495,762
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936778:1,286,475...1,311,184
Ensembl chrNW_004936778:1,286,341...1,311,194
JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867
JBrowse link
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221
JBrowse link
G Lsp1 lymphocyte specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936816:752,021...786,998 JBrowse link
G Ly86 lymphocyte antigen 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936534:5,848,110...5,908,082
Ensembl chrNW_004936534:5,848,100...5,908,114
JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:15045141 RGD:1582501 NCBI chrNW_004936587:2,601,419...2,605,848
Ensembl chrNW_004936587:2,601,312...2,605,870
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22110751 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
JBrowse link
G Nr1i2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chrNW_004936536:6,691,590...6,726,421
Ensembl chrNW_004936536:6,691,590...6,726,704
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936709:864,206...884,630
Ensembl chrNW_004936709:864,197...884,610
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936501:13,550,702...13,552,774
Ensembl chrNW_004936501:13,550,679...13,552,805
JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936722:209,019...212,817
Ensembl chrNW_004936722:209,013...212,839
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004936785:177,134...285,467
Ensembl chrNW_004936785:181,127...285,209
JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12803500 NCBI chrNW_004936581:348,719...356,246
Ensembl chrNW_004936581:349,057...356,059
JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chrNW_004936590:3,813,916...3,817,642
Ensembl chrNW_004936590:3,813,888...3,817,642
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chrNW_004936515:11,026,156...11,046,812
Ensembl chrNW_004936515:11,025,724...11,046,849
JBrowse link
G Spn sialophorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936501:12,773,967...12,776,642 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:dermis:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18390899 PMID:18422975 PMID:21193197 PMID:21335463 RGD:6903869 RGD:9068449 NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chrNW_004936594:3,232,433...3,244,241
Ensembl chrNW_004936594:3,232,355...3,244,241
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004936481:8,462,714...8,601,824
Ensembl chrNW_004936481:8,462,714...8,602,185
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936600:2,230,754...2,266,956
Ensembl chrNW_004936600:2,230,705...2,266,968
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936595:1,483,688...1,499,716
Ensembl chrNW_004936595:1,483,689...1,501,364
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar
PMID:25741868 PMID:27432940 PMID:28492532 NCBI chrNW_004936600:2,230,754...2,266,956
Ensembl chrNW_004936600:2,230,705...2,266,968
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM
PMID:27013236 PMID:28492532 NCBI chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201
JBrowse link
Cole Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility ISO ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION ClinVar
OMIM
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chrNW_004937067:194,375...246,607 JBrowse link
Coronary Artery Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phactr1 phosphatase and actin regulator 1 ISO DNA:SNP:intron: (rs12526453) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chrNW_004936534:42,354...323,735
Ensembl chrNW_004936534:42,433...536,171
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089
JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chrNW_004936582:920,852...978,167
Ensembl chrNW_004936582:920,833...981,373
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
JBrowse link
diffuse idiopathic skeletal hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a1 solute carrier family 29 member 1 (Augustine blood group) ISO OMIM:106400 MouseDO NCBI chrNW_004936476:15,849,054...15,862,486
Ensembl chrNW_004936476:15,846,606...15,862,548
JBrowse link
familial hypocalciuric hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:1,751,272...1,897,937
Ensembl chrNW_004936725:1,751,266...1,897,946
JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2476381 More... NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:1,273,984...1,331,096
Ensembl chrNW_004936725:1,273,946...1,331,109
JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chrNW_004936536:8,649,890...8,662,472
Ensembl chrNW_004936536:8,649,703...8,662,490
JBrowse link
G Dtx3l deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,844,778...8,853,442
Ensembl chrNW_004936536:8,844,575...8,851,146
JBrowse link
G Eaf2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,213,794...8,257,595
Ensembl chrNW_004936536:8,213,763...8,258,201
JBrowse link
G Fam162a family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,697,631...8,725,667
Ensembl chrNW_004936536:8,697,595...8,730,329
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970
JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:1,614,637...1,705,111
Ensembl chrNW_004936725:1,614,622...1,705,132
JBrowse link
G Heg1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:261,809...336,390
Ensembl chrNW_004936725:261,712...336,414
JBrowse link
G Hspbap1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,976,625...8,994,974 JBrowse link
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,351,394...8,383,857
Ensembl chrNW_004936536:8,351,359...8,383,907
JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708
JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:417,824...530,993
Ensembl chrNW_004936725:417,433...532,760
JBrowse link
G Kalrn kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:749,382...1,020,702
Ensembl chrNW_004936725:572,868...1,139,142
JBrowse link
G Kpna1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,735,159...8,801,385
Ensembl chrNW_004936536:8,737,488...8,801,428
JBrowse link
G LOC101962583 protein mono-ADP-ribosyltransferase PARP14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,923,398...8,976,583
Ensembl chrNW_004936536:8,923,411...8,974,283
JBrowse link
G Mix23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,671,244...8,696,754
Ensembl chrNW_004936536:8,671,172...8,696,886
JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:381,006...400,333 JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:1,418,930...1,594,697
Ensembl chrNW_004936725:1,424,130...1,592,840
JBrowse link
G Ocrl OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:23047739 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chrNW_004936479:1,955,362...2,011,608
Ensembl chrNW_004936479:1,953,488...2,012,018
JBrowse link
G Parp9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,806,824...8,845,099
Ensembl chrNW_004936536:8,806,818...8,840,746
JBrowse link
G Pdia5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:2,024,646...2,114,530
Ensembl chrNW_004936725:2,024,643...2,114,560
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:28492532 NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449
JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:1,254,973...1,267,143 JBrowse link
G Sec22a SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:1,906,304...1,982,413
Ensembl chrNW_004936725:1,906,362...1,975,567
JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:2,229,772...2,270,458
Ensembl chrNW_004936725:2,229,764...2,268,894
JBrowse link
G Slc12a8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:100,780...237,525
Ensembl chrNW_004936725:100,823...237,223
JBrowse link
G Slc15a2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,280,537...8,316,011
Ensembl chrNW_004936536:8,280,448...8,316,064
JBrowse link
G Slc49a4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004937358:39,940...86,612 JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004937215:127,074...137,281 JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141
JBrowse link
G Wdr5b WD repeat domain 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,727,881...8,731,067
Ensembl chrNW_004936536:8,728,735...8,730,367
JBrowse link
G Znf148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:6,968...89,762
Ensembl chrNW_004936725:6,962...83,034
JBrowse link
familial hypocalciuric hypercalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 ClinVar
OMIM
PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
JBrowse link
familial hypocalciuric hypercalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 More... NCBI chrNW_004936588:1,770,777...1,789,143
Ensembl chrNW_004936588:1,770,771...1,789,170
JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers 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 chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814
JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847
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 chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
JBrowse link
Generalized Arterial Calcification of Infancy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn2 cellular communication network factor 2 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar
OMIM
PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 More... NCBI chrNW_004937067:194,375...246,607 JBrowse link
G Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chrNW_004937067:41,573...129,386 JBrowse link
Generalized Arterial Calcification of Infancy, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 OMIM
ClinVar
PMID:10811882 PMID:10835642 PMID:11179012 PMID:11439001 PMID:11474653 More... NCBI chrNW_004936501:3,469,928...3,508,577 JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia OMIM
ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... NCBI chrNW_004936526:2,254,463...2,282,785
Ensembl chrNW_004936526:2,254,449...2,282,785
JBrowse link
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts OMIM
ClinVar
PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chrNW_004936684:1,689,594...1,762,066
Ensembl chrNW_004936684:1,692,089...1,762,087
JBrowse link
hereditary arterial and articular multiple calcification syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nt5e 5'-nucleotidase ecto ISO ClinVar Annotator: match by term: Calcification of joints and arteries | ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome OMIM
ClinVar
PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chrNW_004936510:5,797,218...5,846,118
Ensembl chrNW_004936510:5,797,212...5,846,124
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089
JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers 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 chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO OMIM:241530
DNA:deletions, snps:multiple (human)
RGD
MouseDO
PMID:16358215 PMID:19570882 RGD:7242924 RGD:7242925 NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition OMIM
ClinVar
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chrNW_004936669:755,091...760,365
Ensembl chrNW_004936669:755,528...760,522
JBrowse link
hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calca calcitonin related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1115441 PMID:12637657 NCBI chrNW_004936528:3,800,801...3,806,000
Ensembl chrNW_004936528:3,800,577...3,805,004
JBrowse link
G Calcr calcitonin receptor ISO CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chrNW_004936803:423,558...466,762
Ensembl chrNW_004936803:422,890...466,730
JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Hypercalcemia ClinVar PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More... NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
JBrowse link
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
JBrowse link
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic
CTD
RGD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 More... RGD:7242689 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213
JBrowse link
G Pthlh parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 NCBI chrNW_004936760:197,525...209,212
Ensembl chrNW_004936760:197,525...209,518
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chrNW_004936747:1,255,803...1,288,252
Ensembl chrNW_004936747:1,255,803...1,288,252
JBrowse link
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
JBrowse link
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 OMIM
ClinVar
PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More... NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
JBrowse link
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16688119 PMID:17576681 PMID:20466674 More... NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
JBrowse link
Hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor susceptibility
no_association
ISO associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human)
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human)
mRNA, protein:increased expression:kidney (rat)
DNA:missense mutation: :p.E1011Q (human)
RGD PMID:12239240 PMID:19887834 PMID:20602573 PMID:22137721 RGD:7205445 RGD:7205502 RGD:7205666 RGD:7205675 NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting ClinVar PMID:14628289 NCBI chrNW_004936578:5,774...25,621
Ensembl chrNW_004936578:5,774...25,350
JBrowse link
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751 PMID:3017235 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164314 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9560283 PMID:21784483 RGD:7242936 NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypercalciuria ClinVar NCBI chrNW_004936669:755,091...760,365
Ensembl chrNW_004936669:755,528...760,522
JBrowse link
G Vdr vitamin D receptor ISO protein:increased expression:kidney, small intestine RGD PMID:19929616 RGD:4889914 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
JBrowse link
Hypercalciuria, Absorptive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy10 adenylate cyclase 10 susceptibility ISO ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria OMIM
ClinVar
PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 More... NCBI chrNW_004936481:18,274,158...18,330,136
Ensembl chrNW_004936481:18,274,154...18,330,173
JBrowse link
G Dcaf6 DDB1 and CUL4 associated factor 6 ISO ClinVar Annotator: match by term: Familial idiopathic hypercalciuria ClinVar PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 More... NCBI chrNW_004936481:18,133,115...18,228,122
Ensembl chrNW_004936481:18,133,497...18,228,120
JBrowse link
Hypercalciuria, Childhood Idiopathic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
JBrowse link
hyperphosphatemic familial tumoral calcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Cortical hyperostosis with hyperphosphatemia | ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome ClinVar PMID:15133511 PMID:20358599 PMID:25741868 PMID:28492532 NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657
JBrowse link
G Kl klotho ISO ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome ClinVar NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,148,454...1,158,069 JBrowse link
G Adipor2 adiponectin receptor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:1,911,104...2,007,109
Ensembl chrNW_004936606:1,948,743...2,007,163
JBrowse link
G Aicda activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601
JBrowse link
G Akap3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,771,158...4,794,666
Ensembl chrNW_004936606:4,771,180...4,794,902
JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,771,763...2,097,668
Ensembl chrNW_004936709:1,745,804...2,096,989
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004939393:628...6,234
Ensembl chrNW_004939393:628...6,201
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:886,571...894,746
Ensembl chrNW_004936709:887,455...894,727
JBrowse link
G B4galnt3 beta-1,4-N-acetyl-galactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:716,697...751,392
Ensembl chrNW_004936606:645,673...749,370
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:709,001...719,758
Ensembl chrNW_004936709:708,968...720,478
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:695,898...705,189 JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:731,211...742,583
Ensembl chrNW_004936709:731,165...742,686
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936892:347,547...355,143
Ensembl chrNW_004936892:347,842...349,296
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758
JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167
JBrowse link
G Ccdc77 coiled-coil domain containing 77 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:570,536...619,688
Ensembl chrNW_004936606:586,449...619,067
JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,474,801...4,496,158
Ensembl chrNW_004936606:4,474,749...4,496,810
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,312,434...1,317,592
Ensembl chrNW_004936709:1,312,448...1,317,378
JBrowse link
G Cd4 CD4 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:997,776...1,022,791
Ensembl chrNW_004936709:997,750...1,022,884
JBrowse link
G Cd9 CD9 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,497,504...1,530,114 JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:966,559...969,667
Ensembl chrNW_004936709:967,294...968,896
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,183,243...1,214,144
Ensembl chrNW_004936709:1,183,254...1,214,149
JBrowse link
G Clec4d C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936858:303,639...312,092
Ensembl chrNW_004936858:303,639...312,083
JBrowse link
G Clec4e C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936858:316,954...321,668
Ensembl chrNW_004936858:316,954...321,668
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:641,615...673,309
Ensembl chrNW_004936709:637,641...673,314
JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,081,070...1,087,151
Ensembl chrNW_004936709:1,080,696...1,087,062
JBrowse link
G Cracr2a calcium release activated channel regulator 2A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,880,214...3,970,278
Ensembl chrNW_004936606:3,882,276...3,955,765
JBrowse link
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:884,741...886,617
Ensembl chrNW_004936709:884,741...886,895
JBrowse link
G Dcp1b decapping mRNA 1B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:2,145,289...2,196,157
Ensembl chrNW_004936606:2,145,260...2,196,193
JBrowse link
G Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,740,227...4,769,734
Ensembl chrNW_004936606:4,718,533...4,769,524
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:847,229...854,471
Ensembl chrNW_004936709:845,633...854,976
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:904,647...913,445
Ensembl chrNW_004936709:904,031...913,451
JBrowse link
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:1,201,420...1,713,894
Ensembl chrNW_004936606:1,201,657...1,708,551
JBrowse link
G Fbxl14 F-box and leucine rich repeat protein 14 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:1,802,833...1,806,870
Ensembl chrNW_004936606:1,805,827...1,806,870
JBrowse link
G Ferry3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,660,203...4,697,065
Ensembl chrNW_004936606:4,659,340...4,697,060
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,613,052...4,624,587
Ensembl chrNW_004936606:4,613,048...4,624,587
JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,122,798...3,131,352
Ensembl chrNW_004936606:3,122,736...3,134,823
JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936892:324,103...344,739
Ensembl chrNW_004936892:331,239...344,624
JBrowse link
G Foxm1 forkhead box M1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,185,289...3,198,427
Ensembl chrNW_004936606:3,185,982...3,198,378
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 OMIM
ClinVar
PMID:3839626 PMID:3998061 PMID:8338191 PMID:9536098 PMID:13774168 More... NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657
JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,883,434...4,947,621 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,243,149...1,247,782 JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004937847:8,179...16,783
Ensembl chrNW_004937847:7,456...16,783
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:970,169...977,059
Ensembl chrNW_004936709:970,172...976,863
JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:990,690...996,849
Ensembl chrNW_004936709:990,202...996,854
JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,228,589...1,242,349
Ensembl chrNW_004936709:1,228,606...1,242,349
JBrowse link
G Ing4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,140,485...1,147,982
Ensembl chrNW_004936709:1,140,345...1,149,843
JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:271,217...388,505
Ensembl chrNW_004936606:271,291...374,940
JBrowse link
G Itfg2 integrin alpha FG-GAP repeat containing 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,144,616...3,158,825
Ensembl chrNW_004936606:3,144,602...3,158,890
JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,969,282...4,972,383
Ensembl chrNW_004936606:4,969,787...4,971,446
JBrowse link
G Kdm5a lysine demethylase 5A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:486,424...570,546
Ensembl chrNW_004936606:485,655...570,739
JBrowse link
G Kl klotho ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:17710231 PMID:25741868 PMID:29389098 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936870:339,526...352,807
Ensembl chrNW_004936870:339,521...353,207
JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,041,519...1,048,630
Ensembl chrNW_004936709:1,041,530...1,047,280
JBrowse link
G LOC101959799 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004937109:142,711...144,257
Ensembl chrNW_004937109:142,711...144,198
JBrowse link
G LOC101965910 C-type lectin domain family 4 member A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936892:454,036...467,957 JBrowse link
G LOC101972289 protein FAM90A27P ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004937327:19,316...24,170 JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,170,042...1,172,148
Ensembl chrNW_004936709:1,170,215...1,171,388
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:800,197...852,659
Ensembl chrNW_004936709:799,961...851,585
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:914,077...923,169
Ensembl chrNW_004936709:914,789...922,466
JBrowse link
G Lrtm2 leucine rich repeats and transmembrane domains 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:2,035,359...2,052,188
Ensembl chrNW_004936606:2,042,844...2,055,028
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,362,846...1,369,287
Ensembl chrNW_004936709:1,362,840...1,369,365
JBrowse link
G M6pr mannose-6-phosphate receptor, cation dependent ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936870:300,742...310,876
Ensembl chrNW_004936870:302,166...307,134
JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936870:58,863...65,844
Ensembl chrNW_004936870:57,015...71,325
JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,053,408...1,070,253 JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,275,888...1,277,025
Ensembl chrNW_004936709:1,275,890...1,277,025
JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936892:181,834...187,691 JBrowse link
G Nanognb NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936870:763,004...765,847 JBrowse link
G Ncapd2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,250,442...1,275,823
Ensembl chrNW_004936709:1,250,495...1,275,769
JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,794,701...4,825,696
Ensembl chrNW_004936606:4,794,749...4,825,570
JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936892:372,743...385,127
Ensembl chrNW_004936892:372,284...385,202
JBrowse link
G Ninj2 ninjurin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:752,782...849,264
Ensembl chrNW_004936606:752,581...755,559
JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,215,100...1,228,117 JBrowse link
G Nrip2 nuclear receptor interacting protein 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,159,049...3,167,629
Ensembl chrNW_004936606:3,158,910...3,167,578
JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:2,163,510...2,223,429
Ensembl chrNW_004936709:2,163,334...2,223,552
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:977,851...989,949
Ensembl chrNW_004936709:978,229...989,874
JBrowse link
G Parp11 poly(ADP-ribose) polymerase family member 11 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,062,301...4,120,389
Ensembl chrNW_004936606:4,063,171...4,120,397
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:854,493...859,182
Ensembl chrNW_004936709:854,698...858,851
JBrowse link
G Phc1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936870:275,764...300,460
Ensembl chrNW_004936870:277,252...303,125
JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,102,730...1,111,143
Ensembl chrNW_004936709:1,102,477...1,110,420
JBrowse link
G Plekhg6 pleckstrin homology and RhoGEF domain containing G6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,421,550...1,437,950
Ensembl chrNW_004936709:1,421,531...1,438,003
JBrowse link
G Prmt8 protein arginine methyltransferase 8 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,812,030...3,864,349
Ensembl chrNW_004936606:3,811,975...3,864,394
JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,049,455...1,050,892
Ensembl chrNW_004936709:1,049,964...1,050,769
JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:864,206...884,630
Ensembl chrNW_004936709:864,197...884,610
JBrowse link
G Rad51ap1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,697,369...4,716,006 JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:1,070,336...1,099,684
Ensembl chrNW_004936606:1,066,905...1,099,703
JBrowse link
G Rbp5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:673,383...679,173
Ensembl chrNW_004936709:674,819...679,503
JBrowse link
G Rhno1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,201,540...3,208,019
Ensembl chrNW_004936606:3,201,504...3,208,342
JBrowse link
G Rimklb ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936870:93,084...175,154
Ensembl chrNW_004936870:93,012...164,930
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,377,852...1,403,398
Ensembl chrNW_004936709:1,377,831...1,403,833
JBrowse link
G Slc6a12 solute carrier family 6 member 12 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:387,342...412,684
Ensembl chrNW_004936606:384,124...411,698
JBrowse link
G Slc6a13 solute carrier family 6 member 13 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:416,170...455,720
Ensembl chrNW_004936606:415,177...455,721
JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:945,322...948,101
Ensembl chrNW_004936709:945,201...951,441
JBrowse link
G Tapbpl TAP binding protein like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,304,843...1,313,191
Ensembl chrNW_004936709:1,304,971...1,313,770
JBrowse link
G Tead4 TEA domain transcription factor 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,310,905...3,358,519
Ensembl chrNW_004936606:3,310,823...3,356,509
JBrowse link
G Tex52 testis expressed 52 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,178,727...3,184,288
Ensembl chrNW_004936606:3,178,727...3,183,796
JBrowse link
G Tigar TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:4,518,525...4,540,109
Ensembl chrNW_004936606:4,518,584...4,540,114
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:948,151...951,430
Ensembl chrNW_004936709:945,201...951,441
JBrowse link
G Tspan9 tetraspanin 9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,398,745...3,589,647
Ensembl chrNW_004936606:3,506,357...3,586,849
JBrowse link
G Tulp3 TUB like protein 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:3,209,170...3,278,809
Ensembl chrNW_004936606:3,209,141...3,278,563
JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:952,225...966,429
Ensembl chrNW_004936709:952,182...966,498
JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,297,820...1,304,793
Ensembl chrNW_004936709:1,297,743...1,304,899
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:933,637...1,069,885
Ensembl chrNW_004936606:934,337...1,067,275
JBrowse link
G Wnt5b Wnt family member 5B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936606:1,741,500...1,854,857
Ensembl chrNW_004936606:1,838,043...1,856,095
JBrowse link
G Znf384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chrNW_004936709:1,114,105...1,137,918
Ensembl chrNW_004936709:1,113,974...1,138,478
JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 2 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar
PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 More... NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl klotho ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:17710231 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
JBrowse link
Hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11701698 PMID:11770836 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
JBrowse link
G Tbx1 T-box transcription factor 1 ISO DNA:frameshift mutation:CDS:p.G387AfsX73 (human) RGD PMID:32110744 RGD:155641234 NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525
JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers 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 PMID:25741868 PMID:35738466 NCBI chrNW_004936905:419,478...427,335
Ensembl chrNW_004936905:420,354...427,324
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chrNW_004937067:194,375...246,607 JBrowse link
G Fam20c FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chrNW_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083
JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847
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 chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers 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, autosomal recessive, 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chrNW_004936905:419,478...427,335
Ensembl chrNW_004936905:420,354...427,324
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 ClinVar
OMIM
PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... NCBI chrNW_004937067:194,375...246,607 JBrowse link
Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004936785:17,588...28,565
Ensembl chrNW_004936785:18,147...27,409
JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004936785:46,076...72,529
Ensembl chrNW_004936785:46,796...72,640
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chrNW_004936471:7,812,163...7,831,258
Ensembl chrNW_004936471:7,813,128...7,831,258
JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004936570:362,655...389,649 JBrowse link
G Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004937108:873...110,949
Ensembl chrNW_004937108:60...110,939
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004937108:111,111...147,077
Ensembl chrNW_004937108:117,881...150,498
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition OMIM
ClinVar
PMID:20301594 PMID:22327515 PMID:23334463 PMID:23437308 PMID:24209445 More... NCBI chrNW_004936785:177,134...285,467
Ensembl chrNW_004936785:181,127...285,209
JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004936785:165,612...176,784
Ensembl chrNW_004936785:164,648...176,797
JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004937108:157,652...162,015
Ensembl chrNW_004937108:157,578...164,564
JBrowse link
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 OMIM
ClinVar
PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 More... NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
JBrowse link
Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 OMIM
ClinVar
PMID:21409505 PMID:23913003 PMID:25741868 NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
JBrowse link
Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification OMIM
ClinVar
PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 NCBI chrNW_004936481:8,462,714...8,601,824
Ensembl chrNW_004936481:8,462,714...8,602,185
JBrowse link
Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 More... NCBI chrNW_004936524:2,472,611...2,494,478
Ensembl chrNW_004936524:2,472,624...2,492,768
Ensembl chrNW_004936524:2,472,624...2,492,768
JBrowse link
Idiopathic Basal Ganglia Calcification 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition OMIM
ClinVar
PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645 NCBI chrNW_004936640:1,930,450...1,984,438
Ensembl chrNW_004936640:1,929,255...1,984,872
JBrowse link
Idiopathic Basal Ganglia Calcification, Childhood Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,836,851...1,850,279
Ensembl chrNW_004936737:1,836,897...1,848,989
JBrowse link
G Actrt2 actin related protein T2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:765,125...766,432
Ensembl chrNW_004936737:765,125...766,432
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,010,647...2,041,401
Ensembl chrNW_004936737:2,011,724...2,039,796
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,751,065...1,753,843 JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:369,872...383,671
Ensembl chrNW_004936737:369,852...383,719
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,776,550...1,778,233
Ensembl chrNW_004936737:1,776,480...1,779,611
JBrowse link
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,877,428...1,881,345
Ensembl chrNW_004936737:1,877,191...1,881,360
JBrowse link
G Calml6 calmodulin like 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,468,172...1,470,326
Ensembl chrNW_004936737:1,468,269...1,469,445
JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:144,398...157,262 JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,765,027...1,773,156
Ensembl chrNW_004936737:1,764,189...1,772,475
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:98,346...127,932
Ensembl chrNW_004936737:98,365...129,671
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,416,475...1,465,984 JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,816,461...1,820,353
Ensembl chrNW_004936737:1,816,475...1,820,320
JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,975,031...1,991,058 JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,296,152...1,300,038 JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,658,932...1,668,081 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,400,437...1,405,885
Ensembl chrNW_004936737:1,400,395...1,406,119
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102
JBrowse link
G Hes4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,054,879...2,056,126 JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,045,496...1,047,865
Ensembl chrNW_004936737:1,046,613...1,047,950
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,820,472...1,833,301
Ensembl chrNW_004936737:1,822,826...1,833,104
JBrowse link
G Isg15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency OMIM
ClinVar
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chrNW_004936737:2,043,383...2,044,761 JBrowse link
G Klhl17 kelch like family member 17 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,080,699...2,086,252
Ensembl chrNW_004936737:2,079,582...2,086,152
JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:129,781...139,139
Ensembl chrNW_004936737:129,724...139,468
JBrowse link
G Megf6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:269,629...364,809 JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,633,495...1,646,598 JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:970,504...997,452
Ensembl chrNW_004936737:970,504...997,067
JBrowse link
G Mmp23b matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,628,915...1,632,023
Ensembl chrNW_004936737:1,629,639...1,632,023
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,166,183...1,214,517 JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,760,236...1,761,776 JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,790,653...1,794,749
Ensembl chrNW_004936737:1,790,587...1,794,796
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,568,304...1,579,929 JBrowse link
G Noc2l NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,087,123...2,098,153
Ensembl chrNW_004936737:2,087,158...2,098,156
JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,049,467...1,064,548
Ensembl chrNW_004936737:1,048,597...1,065,364
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718
JBrowse link
G Plch2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,066,860...1,131,627
Ensembl chrNW_004936737:1,066,825...1,133,216
JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,072,857...2,079,855 JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:400,819...446,768
Ensembl chrNW_004936737:404,846...446,985
JBrowse link
G Prkcz protein kinase C zeta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,303,502...1,383,135
Ensembl chrNW_004936737:1,303,887...1,321,944
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:998,313...1,000,757
Ensembl chrNW_004936737:998,186...1,000,764
JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,833,298...1,836,101
Ensembl chrNW_004936737:1,833,798...1,836,696
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,152,937...1,164,817
Ensembl chrNW_004936737:1,152,937...1,164,616
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,992,117...1,997,810 JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,851,185...1,854,923 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,889,123...1,898,303
Ensembl chrNW_004936737:1,891,415...1,898,904
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,223,653...1,274,664
Ensembl chrNW_004936737:1,222,341...1,276,631
JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:141,024...141,851
Ensembl chrNW_004936737:140,702...143,791
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,678,425...1,705,569
Ensembl chrNW_004936737:1,678,425...1,705,609
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,811,123...1,814,982
Ensembl chrNW_004936737:1,811,815...1,814,982
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,710,311...1,711,882 JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,466,168...1,468,003 JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,746,208...1,746,947 JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,008,228...1,013,575 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,905,307...1,910,356 JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,901,749...1,904,382 JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464
JBrowse link
G Tprg1l tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:253,752...258,767 JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,910,286...1,926,061 JBrowse link
G Ube2j2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,862,577...1,875,216
Ensembl chrNW_004936737:1,862,578...1,875,248
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,733,837...1,738,861
Ensembl chrNW_004936737:1,733,854...1,738,792
JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:238,615...253,495
Ensembl chrNW_004936737:238,573...255,356
JBrowse link
Infantile Hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Infantile hypercalcemia ClinVar NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
JBrowse link
intestinal hypomagnesemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm6 transient receptor potential cation channel subfamily M member 6 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 OMIM
ClinVar
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chrNW_004936503:10,508,989...10,637,424
Ensembl chrNW_004936503:10,508,989...10,616,972
JBrowse link
G Trpm7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chrNW_004936471:12,564,617...12,666,229
Ensembl chrNW_004936471:12,565,054...12,665,962
JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome OMIM
ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chrNW_004936581:3,482,649...3,488,331
Ensembl chrNW_004936581:3,480,412...3,490,195
JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chrNW_004936484:17,048,187...17,097,414
Ensembl chrNW_004936484:17,046,284...17,095,744
JBrowse link
Keutel Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Keutel syndrome OMIM
ClinVar
PMID:9916809 PMID:15810001 PMID:25741868 PMID:28492532 NCBI chrNW_004936587:2,601,419...2,605,848
Ensembl chrNW_004936587:2,601,312...2,605,870
JBrowse link
Labrune Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar NCBI chrNW_004936595:1,310,556...1,321,974
Ensembl chrNW_004936595:1,310,534...1,321,985
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 More... NCBI chrNW_004936595:1,404,017...1,406,756
Ensembl chrNW_004936595:1,403,442...1,406,783
JBrowse link
low molecular weight proteinuria with hypercalciuric nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis OMIM
ClinVar
PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9734595 More... NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814
JBrowse link
Medial Coronary Sclerosis of Infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy ClinVar PMID:9536098 PMID:15940697 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004937067:194,375...246,607 JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar
PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chrNW_004936499:4,910,687...5,023,252
Ensembl chrNW_004936499:4,910,686...5,023,293
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chrNW_004936499:4,771,535...4,782,768
Ensembl chrNW_004936499:4,771,535...4,777,111
JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chrNW_004936499:5,042,638...5,199,433 JBrowse link
nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:8101040 PMID:9136629 PMID:9192270 PMID:10541294 PMID:10960483 More... NCBI chrNW_004936745:856,915...867,477
Ensembl chrNW_004936745:857,102...867,477
JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:9916796 PMID:12414817 PMID:16199547 PMID:16611712 PMID:16769747 More... NCBI chrNW_004936491:15,112,422...15,138,716
Ensembl chrNW_004936491:15,112,321...15,139,525
JBrowse link
G Brd4 bromodomain containing 4 ISO MouseDO NCBI chrNW_004936596:5,176,682...5,246,102
Ensembl chrNW_004936596:5,177,147...5,246,518
JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:10390358 PMID:25741868 PMID:28893421 NCBI chrNW_004936578:5,774...25,621
Ensembl chrNW_004936578:5,774...25,350
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:25741868 PMID:28893421 PMID:33025205 PMID:34805638 NCBI chrNW_004936474:24,067,009...24,070,838
Ensembl chrNW_004936474:24,064,730...24,070,865
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:9536098 PMID:10484776 PMID:11030416 PMID:12185464 PMID:14635115 More... NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970
JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:9430241 NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO MouseDO NCBI chrNW_004936541:4,988,469...5,004,110
Ensembl chrNW_004936541:4,988,368...5,003,922
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
JBrowse link
G Pth parathyroid hormone ISO RGD PMID:23344571 RGD:7242573 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:8640224 PMID:9585600 PMID:17998760 PMID:18391953 PMID:19096086 More... NCBI chrNW_004936471:10,564,530...10,648,124
Ensembl chrNW_004936471:10,564,535...10,646,977
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20160351 NCBI chrNW_004936477:22,209,445...22,213,592
Ensembl chrNW_004936477:22,208,451...22,213,592
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:16199547 PMID:16688119 PMID:25741868 PMID:26047794 PMID:28492532 More... NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:18947684 PMID:24610330 PMID:25109415 PMID:25741868 PMID:25964309 More... NCBI chrNW_004936508:7,672,274...7,703,962
Ensembl chrNW_004936508:7,672,223...7,703,961
JBrowse link
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppfibp1 PPFIA binding protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities ClinVar
OMIM
PMID:25741868 PMID:35830857 NCBI chrNW_004937395:28,813...79,109 JBrowse link
normophosphatemic familial tumoral calcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA | ClinVar Annotator: match by term: Normophosphatemic familial tumoral calcinosis OMIM
ClinVar
PMID:16960814 PMID:18094730 PMID:25741868 PMID:28346228 PMID:28492532 NCBI chrNW_004936803:765,839...782,176 JBrowse link
osteomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chrNW_004936905:284,849...297,297 JBrowse link
Primrose Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb20 zinc finger and BTB domain containing 20 ISO ClinVar Annotator: match by term: Primrose syndrome OMIM
ClinVar
PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:28327206 More... NCBI chrNW_004936536:1,776,065...2,546,286
Ensembl chrNW_004936536:1,776,081...1,829,837
JBrowse link
pseudo-TORCH syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ocln occludin ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 OMIM
ClinVar
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868 PMID:28492532 NCBI chrNW_004936480:99,516...152,834
Ensembl chrNW_004936480:98,371...152,413
JBrowse link
Pseudo-TORCH Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 OMIM
ClinVar
PMID:12833411 PMID:25741868 PMID:27325888 PMID:31940699 NCBI chrNW_004936807:1,090,928...1,116,166
Ensembl chrNW_004936807:1,090,882...1,114,770
JBrowse link
Pseudo-TORCH Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31836668 PMID:32092142 NCBI chrNW_004936646:747,178...763,449
Ensembl chrNW_004936646:748,727...761,287
JBrowse link
pseudohypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971027 neuroendocrine secretory protein 55 ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism ClinVar PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8388883 More... NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism ClinVar PMID:25741868 PMID:35846276 NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213
JBrowse link
pseudohypoparathyroidism type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971027 neuroendocrine secretory protein 55 ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B OMIM
ClinVar
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 More... NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B OMIM
ClinVar
PMID:14561710 PMID:15579741 PMID:15800843 PMID:25741868 PMID:28492532 NCBI chrNW_004936530:1,231,033...1,247,961
Ensembl chrNW_004936530:1,231,252...1,247,987
Ensembl chrNW_004936530:1,231,252...1,247,987
JBrowse link
Pseudohypoparathyroidism Type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971027 neuroendocrine secretory protein 55 ISO ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C OMIM
ClinVar
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 More... NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
pseudopseudohypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971027 neuroendocrine secretory protein 55 ISO ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance | ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism OMIM
ClinVar
PMID:219790 PMID:1505964 PMID:2122458 PMID:7853365 PMID:8702665 More... NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
pulmonary alveolar microlithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a2 solute carrier family 34 member 2 ISO ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS OMIM
ClinVar
PMID:11287838 PMID:16960801 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936477:3,954,377...3,975,259
Ensembl chrNW_004936477:3,956,061...3,966,392
JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia OMIM
ClinVar
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098
JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications ClinVar PMID:19161147 PMID:25741868 PMID:29573043 PMID:29979980 PMID:30014610 NCBI chrNW_004936569:4,524,525...4,604,539
Ensembl chrNW_004936569:4,523,046...4,604,560
JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29979980 NCBI chrNW_004936569:4,524,525...4,604,539
Ensembl chrNW_004936569:4,523,046...4,604,560
JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 OMIM
ClinVar
PMID:25741868 PMID:31355908 NCBI chrNW_004936659:1,982,343...1,990,277
Ensembl chrNW_004936659:1,981,723...1,990,322
JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement ClinVar NCBI chrNW_004936578:5,774...25,621
Ensembl chrNW_004936578:5,774...25,350
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement OMIM
ClinVar
PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chrNW_004936474:24,067,009...24,070,838
Ensembl chrNW_004936474:24,064,730...24,070,865
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chrNW_004936563:1,058,803...1,181,393 JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
JBrowse link
rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor ISO RGD PMID:12671052 RGD:734698 NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
JBrowse link
G Fam20c FAM20C golgi associated secretory pathway kinase ISO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098
JBrowse link
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
CTD Direct Evidence: marker/mechanism
vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
RGD
MouseDO
CTD
PMID:9486994 PMID:11416220 PMID:16494812 RGD:1600874 RGD:734871 NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213
JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
CTD
MouseDO
RGD
PMID:1338926 PMID:2849209 PMID:17451081 PMID:22466564 RGD:1624354 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
JBrowse link
SHORT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: SHORT syndrome OMIM
ClinVar
PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:9536098 More... NCBI chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537
JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 More... NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar
PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chrNW_004936524:1,141,840...1,200,638
Ensembl chrNW_004936524:1,140,971...1,200,638
JBrowse link
Tetany term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap5 A-kinase anchoring protein 5 ISO mRNA:increased expression:dentate gyrus (rat) RGD PMID:12542670 RGD:2313247 NCBI chrNW_004936495:8,173,521...8,179,249
Ensembl chrNW_004936495:8,176,249...8,177,556
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chrNW_004936600:2,898,321...3,037,414
Ensembl chrNW_004936600:2,904,410...3,036,132
JBrowse link
Tropical Calcific Pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spink1 serine peptidase inhibitor Kazal type 1 ISO ClinVar Annotator: match by term: Tropical calcific pancreatitis ClinVar
OMIM
PMID:10691414 PMID:10835640 PMID:11265669 PMID:11950815 PMID:12011155 More... NCBI chrNW_004936504:6,975,044...6,981,304
Ensembl chrNW_004936504:6,975,044...6,981,304
JBrowse link
Vascular Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end-product specific receptor disease_progression ISO associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human)
associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse)
RGD PMID:21099228 PMID:21643645 PMID:22305260 RGD:7243940 RGD:7243959 RGD:7245562 NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
JBrowse link
G Cd40 CD40 molecule ISO associated with Coronary Artery Disease RGD PMID:16494885 RGD:7248436 NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280
JBrowse link
G Cd40lg CD40 ligand ISO associated with Coronary Artery Disease RGD PMID:16494885 RGD:7248436 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23223575 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
JBrowse link
G Gpx3 glutathione peroxidase 3 treatment ISO associated with obesity RGD PMID:24370590 RGD:401827910 NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498
JBrowse link
G Kl klotho ISO RGD PMID:21115613 RGD:10403077 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21705322 NCBI chrNW_004936587:2,601,419...2,605,848
Ensembl chrNW_004936587:2,601,312...2,605,870
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:transition:cds:g.677C>T (human) RGD PMID:21394321 RGD:6893475 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO DNA:SNPs:cds, intron:multiple RGD PMID:22340269 RGD:6482770 NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998
JBrowse link
G Pth parathyroid hormone disease_progression ISO protein:increased expression:serum (rat)
associated with Kidney Failure, Chronic
RGD PMID:22634235 PMID:23486515 RGD:7242416 RGD:7242900 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
JBrowse link
vitamin D-dependent rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
JBrowse link
vitamin D-dependent rickets type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972957 vitamin D 25-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:24033266 More... NCBI chrNW_004936528:3,881,630...3,897,613
Ensembl chrNW_004936528:3,881,087...3,900,302
JBrowse link
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial treatment ISO ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A OMIM
ClinVar
RGD
PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 More... RGD:32716373 NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
JBrowse link
G Milr1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269 NCBI chrNW_004936541:4,959,838...4,972,543 JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269 NCBI chrNW_004936541:4,988,469...5,004,110
Ensembl chrNW_004936541:4,988,368...5,003,922
JBrowse link
vitamin D-dependent rickets type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972957 vitamin D 25-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B OMIM
ClinVar
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chrNW_004936528:3,881,630...3,897,613
Ensembl chrNW_004936528:3,881,087...3,900,302
JBrowse link
vitamin D-dependent rickets type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vdr vitamin D receptor treatment ISO ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A OMIM
ClinVar
RGD
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:13432060 RGD:32716373 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers 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 chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155
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 chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098
JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked OMIM
ClinVar
PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847
JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 More... NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6774
      disease of metabolism 6774
        mineral metabolism disease 926
          calcium metabolism disease 566
            Hypercalciuria + 12
            Hypocalcemia + 14
            Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
            Pathologic Decalcification + 0
            calcinosis + 502
            hypercalcemia + 50
            pseudohypoparathyroidism + 4
            renal hypomagnesemia 5 with ocular involvement 3
            rickets + 22
Path 2
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6774
      disease of metabolism 6774
        acquired metabolic disease 2137
          mineral metabolism disease 926
            calcium metabolism disease 566
              Hypercalciuria + 12
              Hypocalcemia + 14
              Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
              Pathologic Decalcification + 0
              calcinosis + 502
              hypercalcemia + 50
              pseudohypoparathyroidism + 4
              renal hypomagnesemia 5 with ocular involvement 3
              rickets + 22
paths to the root