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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.


show annotations for term's descendants           Sort by:
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 IAGP
ISS
EXP		 DNA:mutations:exons:
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... RGD:11069491 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME		 ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME		 ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:24686847 PMID:25741868 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G LOC117038795 CRISPRi-FlowFISH-validated PRDX2 regulatory element 4 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:21454563 PMID:23592335 PMID:25604658 PMID:25741868 More... NCBI chr19:12,805,831...12,806,863 JBrowse link
G LOC130009809 ATAC-STARR-seq lymphoblastoid silent region 5361 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr13:50,909,606...50,910,035 JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2B-AS1 RNASEH2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr13:50,882,378...50,910,712
Ensembl chr13:50,862,172...50,910,764 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr20:36,876,121...36,894,235
Ensembl chr20:36,876,121...36,894,235 		JBrowse link
G TREX1 three prime repair exonuclease 1 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846		 CTD
ClinVar
MouseDO		 PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G USP18 ubiquitin specific peptidase 18 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,150,118...18,177,397 		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 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,716,829...49,719,684
Ensembl chr 3:49,716,829...49,719,684 		JBrowse link
G AMT aminomethyltransferase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685 		JBrowse link
G APEH acylaminoacyl-peptide hydrolase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,673,117...49,683,971
Ensembl chr 3:49,674,014...49,683,971 		JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,918,842...48,986,382
Ensembl chr 3:48,918,821...48,986,382 		JBrowse link
G ARIH2OS ARIH2 opposite strand lncRNA IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,917,788...48,919,385
Ensembl chr 3:48,917,782...48,918,823 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G BSN bassoon presynaptic cytomatrix protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,554,477...49,673,130
Ensembl chr 3:49,554,477...49,671,549 		JBrowse link
G C3orf62 chromosome 3 open reading frame 62 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,268,596...49,277,232
Ensembl chr 3:49,268,596...49,277,232 		JBrowse link
G C3orf84 chromosome 3 open reading frame 84 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,177,634...49,191,858
Ensembl chr 3:49,177,634...49,191,858 		JBrowse link
G CAMKV CaM kinase like vesicle associated IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,857,989...49,869,906
Ensembl chr 3:49,857,988...49,869,935 		JBrowse link
G CCDC71 coiled-coil domain containing 71 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,162,535...49,166,331
Ensembl chr 3:49,162,535...49,166,331 		JBrowse link
G CDHR4 cadherin related family member 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,790,732...49,802,914
Ensembl chr 3:49,790,732...49,799,873 		JBrowse link
G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,636,463...48,662,886
Ensembl chr 3:48,636,463...48,662,886 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
G GNAT1 G protein subunit alpha transducin 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,191,610...50,197,696
Ensembl chr 3:50,191,610...50,197,696 		JBrowse link
G GPX1 glutathione peroxidase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G HYAL1 hyaluronidase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
G HYAL3 hyaluronidase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,292,832...50,299,405
Ensembl chr 3:50,292,831...50,299,405 		JBrowse link
G IFRD2 interferon related developmental regulator 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,287,732...50,292,429
Ensembl chr 3:50,287,732...50,292,918 		JBrowse link
G IHO1 interactor of HORMAD1 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,191,309...49,258,106
Ensembl chr 3:49,198,428...49,258,106 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G INKA1 inka box actin regulator 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,803,261...49,805,030
Ensembl chr 3:49,803,261...49,805,030 		JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,724,294...49,786,542
Ensembl chr 3:49,724,294...49,786,542 		JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,688,003...48,717,221
Ensembl chr 3:48,688,003...48,740,353 		JBrowse link
G KLHDC8B kelch domain containing 8B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,171,598...49,176,486
Ensembl chr 3:49,171,598...49,176,486 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LSMEM2 leucine rich single-pass membrane protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,277,907...50,288,114
Ensembl chr 3:50,279,087...50,288,114 		JBrowse link
G MIR191 microRNA 191 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,020,618...49,020,709
Ensembl chr 3:49,020,618...49,020,709 		JBrowse link
G MON1A MON1 homolog A, secretory trafficking associated IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,908,873...49,929,811
Ensembl chr 3:49,907,160...49,930,173 		JBrowse link
G MST1 macrophage stimulating 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G MST1R macrophage stimulating 1 receptor IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,887,002...49,903,873
Ensembl chr 3:49,887,002...49,903,873 		JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,296,402...50,299,405
Ensembl chr 3:50,296,402...50,299,416 		JBrowse link
G NCKIPSD NCK interacting protein with SH3 domain IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,673,844...48,685,915
Ensembl chr 3:48,673,844...48,686,364 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NICN1 nicolin 1, tubulin polyglutamylase complex subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,422,333...49,429,324
Ensembl chr 3:49,422,333...49,429,326 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,517,684...48,563,136
Ensembl chr 3:48,517,684...48,562,015 		JBrowse link
G PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,744,591...48,847,874
Ensembl chr 3:48,744,597...48,847,874 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130 		JBrowse link
G QRICH1 glutamine rich 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363 		JBrowse link
G RBM5 RNA binding motif protein 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,088,919...50,119,021
Ensembl chr 3:50,088,919...50,119,021 		JBrowse link
G RBM6 RNA binding motif protein 6 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,940,150...50,077,249
Ensembl chr 3:49,940,007...50,100,045 		JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 PMID:25741914 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNF123 ring finger protein 123 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,689,557...49,721,529
Ensembl chr 3:49,689,538...49,721,529 		JBrowse link
G SEMA3B semaphorin 3B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,267,652...50,277,546
Ensembl chr 3:50,267,558...50,277,546 		JBrowse link
G SEMA3F semaphorin 3F IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,155,058...50,189,075
Ensembl chr 3:50,155,045...50,189,075 		JBrowse link
G SEMA3F-AS1 SEMA3F antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,116,022...50,156,085
Ensembl chr 3:50,116,022...50,156,085 		JBrowse link
G SHISA5 shisa family member 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,467,876...48,504,810
Ensembl chr 3:48,467,798...48,504,826 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904 		JBrowse link
G SLC26A6 solute carrier family 26 member 6 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G TCTA T cell leukemia translocation altered IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,412,423...49,416,476
Ensembl chr 3:49,412,212...49,416,476 		JBrowse link
G TMEM89 transmembrane protein 89 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,620,759...48,621,769
Ensembl chr 3:48,620,759...48,621,769 		JBrowse link
G TRAIP TRAF interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar
OMIM		 PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UBA7 ubiquitin like modifier activating enzyme 7 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,805,209...49,813,953
Ensembl chr 3:49,805,209...49,813,953 		JBrowse link
G UCN2 urocortin 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,561,718...48,563,781
Ensembl chr 3:48,561,718...48,563,781 		JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,599,002...48,609,646
Ensembl chr 3:48,599,002...48,610,976 		JBrowse link
G USP19 ubiquitin specific peptidase 19 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,108,050...49,120,823
Ensembl chr 3:49,108,046...49,120,938 		JBrowse link
G USP4 ubiquitin specific peptidase 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,277,144...49,340,053
Ensembl chr 3:49,277,144...49,340,712 		JBrowse link
G WDR6 WD repeat domain 6 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,007,391...49,015,951
Ensembl chr 3:49,007,062...49,015,953 		JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130009809 ATAC-STARR-seq lymphoblastoid silent region 5361 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 ClinVar NCBI chr13:50,909,606...50,910,035 JBrowse link
G LOC130009810 ATAC-STARR-seq lymphoblastoid silent region 5362 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition		 ClinVar PMID:9536098 PMID:17576681 PMID:17846997 PMID:25741868 PMID:28492532 NCBI chr13:50,910,046...50,910,285 JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2
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 chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2B-AS1 RNASEH2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition		 ClinVar PMID:9536098 PMID:17576681 PMID:17846997 PMID:25741868 PMID:28492532 NCBI chr13:50,882,378...50,910,712
Ensembl chr13:50,862,172...50,910,764 		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 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,546,395...66,563,334
Ensembl chr11:66,546,395...66,563,334 		JBrowse link
G ACY3 aminoacylase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,642,555...67,650,730
Ensembl chr11:67,642,555...67,650,730 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ALDH3B1 aldehyde dehydrogenase 3 family member B1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,008,547...68,029,276
Ensembl chr11:68,008,578...68,029,282 		JBrowse link
G ALDH3B2 aldehyde dehydrogenase 3 family member B2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,662,155...67,681,252
Ensembl chr11:67,662,155...67,681,224 		JBrowse link
G ANKRD13D ankyrin repeat domain 13D IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,289,303...67,302,484
Ensembl chr11:67,289,300...67,302,485 		JBrowse link
G ANO1 anoctamin 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,965,997...70,189,530
Ensembl chr11:69,985,907...70,189,530 		JBrowse link
G AP5B1 adaptor related protein complex 5 subunit beta 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,773,898...65,780,976
Ensembl chr11:65,773,898...65,780,976 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G BANF1 BAF nuclear assembly factor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,337,339...66,345,104
Ensembl chr11:66,337,333...66,345,125 		JBrowse link
G C11orf24 chromosome 11 open reading frame 24 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,261,338...68,271,973
Ensembl chr11:68,261,338...68,272,001 		JBrowse link
G C11orf68 chromosome 11 open reading frame 68 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,916,810...65,919,062
Ensembl chr11:65,916,810...65,919,062 		JBrowse link
G C11orf86 chromosome 11 open reading frame 86 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,975,304...66,977,009
Ensembl chr11:66,975,277...66,977,009 		JBrowse link
G CABP2 calcium binding protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,518,912...67,523,446
Ensembl chr11:67,518,912...67,524,517 		JBrowse link
G CABP4 calcium binding protein 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752 		JBrowse link
G CAPN1 calpain 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006 		JBrowse link
G CARNS1 carnosine synthase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,415,678...67,425,604
Ensembl chr11:67,414,968...67,425,607 		JBrowse link
G CATSPER1 cation channel sperm associated 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,016,752...66,026,479
Ensembl chr11:66,016,752...66,026,479 		JBrowse link
G CCDC85B coiled-coil domain containing 85B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,890,673...65,891,635
Ensembl chr11:65,890,673...65,891,635 		JBrowse link
G CCDC87 coiled-coil domain containing 87 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,590,176...66,593,063
Ensembl chr11:66,590,176...66,593,063 		JBrowse link
G CCND1 cyclin D1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CCS copper chaperone for superoxide dismutase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,593,185...66,606,019
Ensembl chr11:66,593,153...66,606,019 		JBrowse link
G CD248 CD248 molecule IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,314,494...66,317,044
Ensembl chr11:66,314,494...66,317,044 		JBrowse link
G CDC42EP2 CDC42 effector protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,314,866...65,322,417
Ensembl chr11:65,314,866...65,322,417 		JBrowse link
G CDK2AP2 cyclin dependent kinase 2 associated protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,506,497...67,508,162
Ensembl chr11:67,506,497...67,508,649 		JBrowse link
G CFL1 cofilin 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026 		JBrowse link
G CHKA choline kinase alpha IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G CNIH2 cornichon family AMPA receptor auxiliary protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,278,175...66,284,206
Ensembl chr11:66,278,175...66,285,301 		JBrowse link
G CORO1B coronin 1B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,435,510...67,443,809
Ensembl chr11:67,435,510...67,443,821 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		JBrowse link
G CST6 cystatin E/M IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,012,008...66,013,505
Ensembl chr11:66,012,008...66,013,505 		JBrowse link
G CTSF cathepsin F IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,563,464...66,568,606
Ensembl chr11:66,563,464...66,568,879 		JBrowse link
G CTSW cathepsin W IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,879,837...65,883,741
Ensembl chr11:65,879,809...65,883,741 		JBrowse link
G DPF2 double PHD fingers 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G DPP3 dipeptidyl peptidase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,480,434...66,509,657
Ensembl chr11:66,480,013...66,509,657 		JBrowse link
G DRAP1 DR1 associated protein 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,919,426...65,921,563
Ensembl chr11:65,919,274...65,921,563 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,576,053...65,592,650
Ensembl chr11:65,576,046...65,592,650 		JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,996,545...66,002,157
Ensembl chr11:65,996,545...66,002,176 		JBrowse link
G FADD Fas associated via death domain IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390 		JBrowse link
G FAM89B family with sequence similarity 89 member B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,572,538...65,574,190
Ensembl chr11:65,572,349...65,574,198 		JBrowse link
G FGF19 fibroblast growth factor 19 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,698,238...69,704,022
Ensembl chr11:69,698,238...69,704,022 		JBrowse link
G FGF3 fibroblast growth factor 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416 		JBrowse link
G FGF4 fibroblast growth factor 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,771,022...69,775,341
Ensembl chr11:69,771,022...69,775,341 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573 		JBrowse link
G FRMD8 FERM domain containing 8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,368,026...65,426,526
Ensembl chr11:65,386,621...65,413,525 		JBrowse link
G GAL galanin and GMAP prepropeptide IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,684,544...68,691,175
Ensembl chr11:68,683,779...68,691,175 		JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,040,765...66,049,161
Ensembl chr11:66,040,765...66,049,161 		JBrowse link
G GPR152 G protein-coupled receptor 152 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,451,301...67,452,729
Ensembl chr11:67,451,301...67,452,729 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G KCNK7 potassium two pore domain channel subfamily K member 7 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,592,836...65,595,800
Ensembl chr11:65,592,836...65,595,996 		JBrowse link
G KDM2A lysine demethylase 2A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,119,263...67,258,082
Ensembl chr11:67,119,263...67,258,082 		JBrowse link
G KLC2 kinesin light chain 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G KMT5B lysine methyltransferase 5B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852 		JBrowse link
G LOC130006061 ATAC-STARR-seq lymphoblastoid silent region 3553 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:9536098 PMID:17576681 PMID:20131292 PMID:25741868 PMID:28492532 More... NCBI chr11:65,720,484...65,720,723 JBrowse link
G LOC130006062 ATAC-STARR-seq lymphoblastoid active region 5003 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 NCBI chr11:65,720,874...65,720,943 JBrowse link
G LRFN4 leucine rich repeat and fibronectin type III domain containing 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,857,064...66,860,475
Ensembl chr11:66,856,647...66,860,475 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LTO1 LTO1 maturation factor of ABCE1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,665,563...69,675,353
Ensembl chr11:69,653,076...69,675,416 		JBrowse link
G MALAT1 metastasis associated lung adenocarcinoma transcript 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,640...65,508,073 		JBrowse link
G MAP3K11 mitogen-activated protein kinase kinase kinase 11 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,597,757...65,614,221
Ensembl chr11:65,597,756...65,615,382 		JBrowse link
G MRGPRD MAS related GPR family member D IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,980,021...68,980,986
Ensembl chr11:68,980,021...68,980,986 		JBrowse link
G MRGPRF MAS related GPR family member F IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,004,398...69,013,633
Ensembl chr11:69,004,398...69,013,246 		JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,435,075...66,438,848
Ensembl chr11:66,435,075...66,466,738 		JBrowse link
G MRPL21 mitochondrial ribosomal protein L21 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,891,278...68,903,832
Ensembl chr11:68,891,276...68,903,835 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G MYEOV myeloma overexpressed IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,294,155...69,297,287
Ensembl chr11:69,294,151...69,341,682 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554 		JBrowse link
G NDUFV1-DT NDUFV1 divergent transcript IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,602,880...67,606,706
Ensembl chr11:67,602,880...67,606,706 		JBrowse link
G NEAT1 nuclear paraspeckle assembly transcript 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,422,798...65,445,540
Ensembl chr11:65,422,774...65,445,540 		JBrowse link
G NPAS4 neuronal PAS domain protein 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,409,158...66,426,707
Ensembl chr11:66,421,035...66,426,707 		JBrowse link
G NUDT8 nudix hydrolase 8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,627,938...67,629,937
Ensembl chr11:67,627,938...67,629,937 		JBrowse link
G OVOL1 ovo like transcriptional repressor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,787,063...65,797,214
Ensembl chr11:65,787,063...65,797,214 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PC pyruvate carboxylase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386 		JBrowse link
G PCNX3 pecanex 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,615,776...65,637,439
Ensembl chr11:65,615,776...65,637,439 		JBrowse link
G PELI3 pellino E3 ubiquitin protein ligase family member 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,466,327...66,477,337
Ensembl chr11:66,466,327...66,477,337 		JBrowse link
G PITPNM1 phosphatidylinositol transfer protein membrane associated 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,491,768...67,506,266
Ensembl chr11:67,491,768...67,506,263 		JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,261,962...65,305,985
Ensembl chr11:65,261,913...65,305,959 		JBrowse link
G POLD4 DNA polymerase delta 4, accessory subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,350,765...67,353,596
Ensembl chr11:67,350,772...67,356,972 		JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,398,183...67,401,858
Ensembl chr11:67,398,181...67,421,183 		JBrowse link
G PPP6R3 protein phosphatase 6 regulatory subunit 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,460,752...68,615,334
Ensembl chr11:68,460,731...68,615,334 		JBrowse link
G PTPRCAP protein tyrosine phosphatase receptor type C associated protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,435,510...67,437,682
Ensembl chr11:67,435,510...67,437,682 		JBrowse link
G RAB1B RAB1B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,268,639...66,277,492
Ensembl chr11:66,268,590...66,277,492 		JBrowse link
G RAD9A RAD9 checkpoint clamp component A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,391,986...67,398,412
Ensembl chr11:67,317,871...67,398,410 		JBrowse link
G RBM14 RNA binding motif protein 14 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,616,630...66,629,934
Ensembl chr11:66,616,626...66,629,934 		JBrowse link
G RBM14-RBM4 RBM14-RBM4 readthrough IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,616,630...66,646,468
Ensembl chr11:66,616,626...66,646,469 		JBrowse link
G RBM4 RNA binding motif protein 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,638,703...66,668,380
Ensembl chr11:66,638,667...66,668,374 		JBrowse link
G RBM4B RNA binding motif protein 4B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,664,998...66,677,887
Ensembl chr11:66,664,998...66,677,887 		JBrowse link
G RCE1 Ras converting CAAX endopeptidase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,843,441...66,846,552
Ensembl chr11:66,842,835...66,846,552 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G RHOD ras homolog family member D IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,056,847...67,072,017
Ensembl chr11:67,056,847...67,072,017 		JBrowse link
G RIN1 Ras and Rab interactor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,330,241...66,336,774
Ensembl chr11:66,330,241...66,336,840 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP
EXP		 ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RPS6KB2 ribosomal protein S6 kinase B2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,428,494...67,435,401
Ensembl chr11:67,428,460...67,435,401 		JBrowse link
G SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,961,734...65,980,137
Ensembl chr11:65,961,728...65,980,137 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SIPA1 signal-induced proliferation-associated 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,638,101...65,650,912
Ensembl chr11:65,638,101...65,650,918 		JBrowse link
G SLC25A45 solute carrier family 25 member 45 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,375,192...65,383,701
Ensembl chr11:65,375,192...65,383,701 		JBrowse link
G SLC29A2 solute carrier family 29 member 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,362,521...66,372,446
Ensembl chr11:66,362,521...66,372,214 		JBrowse link
G SNX32 sorting nexin 32 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,833,963...65,853,701
Ensembl chr11:65,833,834...65,856,896 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,497...66,744,670 		JBrowse link
G SSH3 slingshot protein phosphatase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,303,530...67,312,592
Ensembl chr11:67,303,478...67,312,607 		JBrowse link
G SYT12 synaptotagmin 12 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,006,771...67,050,863
Ensembl chr11:67,006,778...67,050,863 		JBrowse link
G TBC1D10C TBC1 domain family member 10C IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,403,913...67,410,090
Ensembl chr11:67,403,915...67,410,089 		JBrowse link
G TBX10 T-box transcription factor 10 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,631,303...67,641,754
Ensembl chr11:67,631,303...67,639,763 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TESMIN testis expressed metallothionein like protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,704,796...68,751,520
Ensembl chr11:68,707,440...68,751,520 		JBrowse link
G TIGD3 tigger transposable element derived 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,354,751...65,357,613
Ensembl chr11:65,354,751...65,357,613 		JBrowse link
G TMEM134 transmembrane protein 134 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,461,710...67,469,251
Ensembl chr11:67,461,710...67,469,272 		JBrowse link
G TMEM151A transmembrane protein 151A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,291,894...66,296,664
Ensembl chr11:66,291,894...66,296,664 		JBrowse link
G TOP6BL TOP6B like initiator of meiotic double strand breaks IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,744,736...66,843,516
Ensembl chr11:66,744,451...66,843,516 		JBrowse link
G TPCN2 two pore segment channel 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,048,932...69,090,597
Ensembl chr11:69,048,932...69,136,316 		JBrowse link
G TSGA10IP testis specific 10 interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,945,480...65,959,966
Ensembl chr11:65,945,480...65,959,966 		JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982 		JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,284,580...66,289,143
Ensembl chr11:66,284,580...66,289,145 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,520,625...66,546,048
Ensembl chr11:66,520,637...66,546,235 		JBrowse link
G ZNRD2 zinc ribbon domain containing 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,570,477...65,571,888
Ensembl chr11:65,570,460...65,573,942 		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 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207 		JBrowse link
G KLF1 KLF transcription factor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G LOC117038795 CRISPRi-FlowFISH-validated PRDX2 regulatory element 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar Annotator: match by term: RNASEH2A-related condition		 ClinVar PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr19:12,805,831...12,806,863 JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP
EXP		 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RTBDN retbindin IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,825,482...12,835,428
Ensembl chr19:12,825,478...12,835,428 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,898,786...12,919,293
Ensembl chr19:12,898,786...12,919,293 		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 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,517,417...37,527,876
Ensembl chr20:37,492,472...37,527,931 		JBrowse link
G CTNNBL1 catenin beta like 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,694,030...37,872,118
Ensembl chr20:37,694,030...37,872,129 		JBrowse link
G GHRH growth hormone releasing hormone IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819 		JBrowse link
G LOC130065805 ATAC-STARR-seq lymphoblastoid silent region 12883 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:20653736 PMID:21102625 PMID:24183309 PMID:25741868 PMID:28492532 NCBI chr20:36,951,203...36,951,422 JBrowse link
G MANBAL mannosidase beta like IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,289,655...37,317,260
Ensembl chr20:37,289,649...37,317,260 		JBrowse link
G MROH8 maestro heat like repeat family member 8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,101,167...37,179,548
Ensembl chr20:37,101,226...37,179,588 		JBrowse link
G NNAT neuronatin IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,521,250...37,523,690
Ensembl chr20:37,521,206...37,523,690 		JBrowse link
G RBL1 RB transcriptional corepressor like 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:36,996,349...37,095,997
Ensembl chr20:36,996,349...37,095,997 		JBrowse link
G RPN2 ribophorin II IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,179,330...37,241,619
Ensembl chr20:37,178,410...37,241,619 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP
EXP		 ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:36,876,121...36,894,235
Ensembl chr20:36,876,121...36,894,235 		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 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 ClinVar
OMIM		 PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G LOC126805874 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:154561176-154562375 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 ClinVar PMID:23001123 PMID:25741868 PMID:28492532 PMID:32996714 NCBI chr 1:154,588,700...154,589,899 JBrowse link
G LOC129931512 ATAC-STARR-seq lymphoblastoid silent region 1364 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 ClinVar PMID:25741868 PMID:28492532 PMID:29221912
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 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7		 ClinVar
OMIM		 PMID:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 More... NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		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 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar		 PMID:33230297 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf57 chromosome 12 open reading frame 57 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 OMIM
ClinVar		 PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
Albright's hereditary osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP
ISS		 DNA:splice-site mutation
ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA
ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A
ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA
OMIM:103580
ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance
ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
DNA:deletions:exon:multiple		 ClinVar
MouseDO
OMIM
RGD		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 More... RGD:11568047, RGD:11568049 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 IAGP ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA ClinVar PMID:25741868 NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,918...58,850,903 		JBrowse link
G PTHLH parathyroid hormone like hormone ISS OMIM:103580 MouseDO NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733 		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 IAGP
EXP		 ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction		 ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		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 chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGT angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G GRP gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:59,219,189...59,230,771
Ensembl chr18:59,220,158...59,230,774 		JBrowse link
G GSN gelsolin disease_progression IEP protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G SOD1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		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 chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		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 chr16:31,090,854...31,094,797
Ensembl chr16:31,090,842...31,095,980 		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 IAGP ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G GATA5 GATA binding protein 5 IAGP ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28387797 PMID:28492532 PMID:30675029 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G IL6 interleukin 6 severity IEP RGD PMID:23969418 RGD:12792206 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G LOC126860794 BRD4-independent group 4 enhancer GRCh37_chr9:139392592-139393791 IAGP ClinVar Annotator: match by term: Aortic valve disease 1
ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition		 ClinVar PMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 More... NCBI chr 9:136,498,140...136,499,339 JBrowse link
G LOC130003020 ATAC-STARR-seq lymphoblastoid silent region 20528 IAGP ClinVar Annotator: match by term: NOTCH1-related condition
ClinVar Annotator: match by term: Aortic valve disease 1		 ClinVar PMID:25741868 PMID:28492532 PMID:35101336 NCBI chr 9:136,545,713...136,546,272 JBrowse link
G MIR4673 microRNA 4673 IAGP ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:136,519,568...136,519,626
Ensembl chr 9:136,519,568...136,519,626 		JBrowse link
G NOTCH1 notch receptor 1 IAGP
EXP		 DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human)
ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More... RGD:1580758 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849 		JBrowse link
G TBX20 T-box transcription factor 20 IAGP ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More... NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25758222 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP
ISS
EXP
ISO		 DNA:missense mutations:cds:p.G342V, p.Y371F (human)
ClinVar Annotator: match by term: Idiopathic infantile arterial calcification
OMIM:208000 | OMIM:614473
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.V246D (mouse)
DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human)
DNA:mutations:multiple (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:1601044, RGD:13204734, RGD:731203, RGD:6906932 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		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 chr  X:11,293,413...11,309,588
Ensembl chr  X:11,293,413...11,300,761 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO RGD PMID:2106357 RGD:6483581 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G CASR calcium sensing receptor IAGP
ISO		 DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia
DNA:missense mutation:cds:p.T151M (human)
DNA:missense mutation:cds:p.L723Q (mouse)
DNA:missense mutation:cds:p.E128A (human)		 ClinVar
RGD		 PMID:11136551 PMID:11701698 PMID:12067826 PMID:12574188 PMID:12733714 More... RGD:7204717, RGD:7205656, RGD:7205497, RGD:1598940 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G PTH parathyroid hormone ISO protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		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 IAGP
ISS		 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL
OMIM:601198		 ClinVar
OMIM
MouseDO		 PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More... NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		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 IAGP
ISS		 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2
OMIM:615361		 ClinVar
MouseDO
OMIM		 PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 More... NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		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 IAGP
ISS
EXP		 DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
OMIM:193100
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:526C>T,p.R176W (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		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 ISS
IAGP		 OMIM:241520 | OMIM:613312
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive		 MouseDO
ClinVar		 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		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 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 severity IEP RGD PMID:15120829 RGD:12910476 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G MEIS2 Meis homeobox 2 IEP mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299 		JBrowse link
G NOTCH1 notch receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 PMID:25722432 RGD:13207434, RGD:13207434 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTH parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 IEP protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241 		JBrowse link
G SLC20A1 solute carrier family 20 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 2:112,645,939...112,663,825
Ensembl chr 2:112,645,939...112,663,825 		JBrowse link
G TP53 tumor protein p53 EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16177000 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:21193197 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IEP
EXP		 associated with hypertension;protein:undercarboxylated:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:		 CTD
RGD		 PMID:21335463 PMID:20197689 PMID:18422975 RGD:6483566, RGD:9068449 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G BMP2 bone morphogenetic protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30963258 PMID:31843813 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP4 bone morphogenetic protein 4 IEP protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G C6 complement C6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 5:41,142,116...41,261,469
Ensembl chr 5:41,142,116...41,261,438 		JBrowse link
G CASP3 caspase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		JBrowse link
G CCL15 C-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr17:35,997,582...36,001,553
Ensembl chr17:35,996,440...36,001,553 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21193197 PMID:21335463 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G COL1A1 collagen type I alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G CTC1 CST telomere replication complex component 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTNNB1 catenin beta 1 IEP protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DMD dystrophin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12148126 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IEP associated with Breast Neoplasms;protein:increased expression:breast RGD PMID:18256879 RGD:2289923 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G FCGR1A Fc gamma receptor Ia EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:149,782,694...149,800,609
Ensembl chr 1:149,782,671...149,791,675 		JBrowse link
G FGF23 fibroblast growth factor 23 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659 		JBrowse link
G GPX1 glutathione peroxidase 1 susceptibility IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) RGD PMID:17825092 RGD:2306608 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G IL18 interleukin 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G ITGB1 integrin subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792 		JBrowse link
G ITGB2 integrin subunit beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G JAK2 Janus kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KL klotho EXP CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G LCN2 lipocalin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LSP1 lymphocyte specific protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr11:1,853,084...1,892,263
Ensembl chr11:1,850,904...1,892,267 		JBrowse link
G LY86 lymphocyte antigen 86 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 6:6,588,720...6,654,982
Ensembl chr 6:6,588,108...6,654,983 		JBrowse link
G MGP matrix Gla protein IDA RGD PMID:15045141 RGD:1582501 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NOTCH1 notch receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22110751 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr 3:119,782,101...119,818,487
Ensembl chr 3:119,780,484...119,818,487 		JBrowse link
G PDGFB platelet derived growth factor subunit B EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G PYCARD PYD and CARD domain containing EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr16:31,201,486...31,202,760
Ensembl chr16:31,201,486...31,203,450 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12803500 NCBI chr11:62,976,597...62,984,967
Ensembl chr11:62,936,385...62,984,967 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr 8:48,917,598...48,921,429
Ensembl chr 8:48,917,598...48,921,740 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IEP protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975 		JBrowse link
G SPN sialophorin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr16:29,662,963...29,670,876
Ensembl chr16:29,662,979...29,670,876 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO
EXP
IEP		 CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:		 CTD
RGD		 PMID:21193197 PMID:21335463 PMID:18390899 PMID:18422975 RGD:6903869, RGD:9068449 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome		 CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G STN1 STN1 subunit of CST complex EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		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 IAGP 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 chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase IAGP 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 chr17:8,247,608...8,270,486
Ensembl chr17:8,247,618...8,270,491 		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 IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		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 IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		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 IAGP
EXP		 ClinVar Annotator: match by term: Cole disease
ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		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 IAGP DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron: (rs12526453) (human)		 RGD PMID:23394302 PMID:34241534 PMID:26789557 PMID:23561647 RGD:11058683, RGD:401901247, RGD:11054804, RGD:11057923 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b severity IEP associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		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 IDA associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 4:67,468,762...67,545,503
Ensembl chr 4:67,468,762...67,545,503 		JBrowse link
G FBN1 fibrillin 1 IDA RGD PMID:10395706 RGD:12910471 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		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) ISS OMIM:106400 MouseDO NCBI chr 6:44,219,615...44,234,142
Ensembl chr 6:44,219,553...44,234,142 		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 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G CASR calcium sensing receptor IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
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 chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CCDC14 coiled-coil domain containing 14 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,885,176...123,961,229
Ensembl chr 3:123,897,305...123,961,408 		JBrowse link
G CD86 CD86 molecule IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CSTA cystatin A IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chr 3:122,325,248...122,341,969
Ensembl chr 3:122,325,248...122,341,969 		JBrowse link
G DTX3L deltex E3 ubiquitin ligase 3L IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,564,338...122,575,203
Ensembl chr 3:122,564,338...122,575,203 		JBrowse link
G EAF2 ELL associated factor 2 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,835,209...121,886,526
Ensembl chr 3:121,835,183...121,886,526 		JBrowse link
G FAM162A family with sequence similarity 162 member A IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,384,182...122,412,334
Ensembl chr 3:122,384,161...122,412,334 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,491,554...123,585,053
Ensembl chr 3:123,490,820...123,585,053 		JBrowse link
G HEG1 heart development protein with EGF like domains 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,965,710...125,055,997
Ensembl chr 3:124,965,710...125,055,997 		JBrowse link
G HSPBAP1 HSPB1 associated protein 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,739,999...122,793,831
Ensembl chr 3:122,739,999...122,793,831 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G IQCB1 IQ motif containing B1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G ITGB5 integrin subunit beta 5 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,761,948...124,901,418
Ensembl chr 3:124,761,948...124,901,418 		JBrowse link
G KALRN kalirin RhoGEF kinase IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,033,369...124,726,325
Ensembl chr 3:124,033,369...124,726,325 		JBrowse link
G KPNA1 karyopherin subunit alpha 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,421,902...122,514,939
Ensembl chr 3:122,421,902...122,514,945 		JBrowse link
G MIX23 mitochondrial matrix import factor 23 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,359,591...122,383,231
Ensembl chr 3:122,359,591...122,383,231 		JBrowse link
G MUC13 mucin 13, cell surface associated IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,905,442...124,934,751
Ensembl chr 3:124,905,442...124,953,819 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:23047739 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,528,858...125,595,497
Ensembl chr 3:125,528,858...125,595,497 		JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,680,839...122,730,840
Ensembl chr 3:122,680,839...122,730,840 		JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,577,650...122,639,047
Ensembl chr 3:122,577,628...122,639,047 		JBrowse link
G PARP9 poly(ADP-ribose) polymerase family member 9 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,527,924...122,564,784
Ensembl chr 3:122,527,924...122,564,577 		JBrowse link
G PDIA5 protein disulfide isomerase family A member 5 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,067,025...123,162,104
Ensembl chr 3:123,067,025...123,225,227 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:28492532 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G ROPN1 rhophilin associated tail protein 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,969,015...123,992,124
Ensembl chr 3:123,968,521...123,992,178 		JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,201,943...123,274,136
Ensembl chr 3:123,201,927...123,274,136 		JBrowse link
G SEMA5B semaphorin 5B IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,909,082...123,028,605
Ensembl chr 3:122,909,082...123,028,605 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,082,644...125,212,748
Ensembl chr 3:125,082,636...125,212,864 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,894,401...121,944,188
Ensembl chr 3:121,894,401...121,944,188 		JBrowse link
G SLC49A4 solute carrier family 49 member 4 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,795,069...122,881,139
Ensembl chr 3:122,795,069...122,881,139 		JBrowse link
G SNX4 sorting nexin 4 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,446,650...125,520,202
Ensembl chr 3:125,446,650...125,520,202 		JBrowse link
G UMPS uridine monophosphate synthetase IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G WDR5B WD repeat domain 5B IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,411,846...122,416,062
Ensembl chr 3:122,411,846...122,416,062 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		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
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
OMIM:145980
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A213E (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)		 ClinVar
OMIM
MouseDO
CTD
RGD		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... RGD:7205436, RGD:7205499, RGD:7205440, RGD:1600616 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		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 IAGP
EXP		 ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 More... NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
familial hypocalciuric hypercalcemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP2S1 adaptor related protein complex 2 subunit sigma 1 IAGP
EXP		 ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1524075 PMID:9536098 PMID:17576681 PMID:20133464 PMID:23222959 More... NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846 		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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G LOC130007784 ATAC-STARR-seq lymphoblastoid silent region 4404 IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar NCBI chr12:47,904,987...47,905,116 JBrowse link
G PHEX phosphate regulating endopeptidase X-linked EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets		 CTD
ClinVar		 PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		JBrowse link
G PRSS1 serine protease 1 IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		JBrowse link
G TRB T cell receptor beta locus IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,299,011...142,813,287 JBrowse link
G VDR vitamin D receptor IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		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 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCN2-AS1 CCN2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,901,952...132,102,325
Ensembl chr 6:131,950,946...132,077,393 		JBrowse link
G CTAGE9 CTAGE family member 9 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,708,441...131,711,017
Ensembl chr 6:131,708,441...131,711,017 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility IAGP 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 chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,637,302...131,747,410
Ensembl chr 6:131,628,442...131,747,418 		JBrowse link
G LINC01013 long intergenic non-protein coding RNA 1013 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:132,132,572...132,169,374
Ensembl chr 6:131,901,848...132,169,992 		JBrowse link
G LOC111365199 HNF4 motif-containing MPRA enhancer 74 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,895,225...131,895,369 JBrowse link
G LOC123864069 Sharpr-MPRA regulatory region 1543 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,909,969...131,910,263 JBrowse link
G LOC123864070 Sharpr-MPRA regulatory region 2799 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,938,089...131,938,383 JBrowse link
G LOC126859789 BRD4-independent group 4 enhancer GRCh37_chr6:132324214-132325413 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:132,003,074...132,004,273 JBrowse link
G LOC126859790 BRD4-independent group 4 enhancer GRCh37_chr6:132453077-132454276 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:132,131,937...132,133,406 JBrowse link
G LOC129997167 ATAC-STARR-seq lymphoblastoid active region 25068 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar
G LOC129997168 ATAC-STARR-seq lymphoblastoid active region 25069 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar
G MIR548AJ1 microRNA 548aj-1 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:132,115,192...132,115,263
Ensembl chr 6:132,115,192...132,115,263 		JBrowse link
G MIR548H5 microRNA 548h-5 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,792,172...131,792,231
Ensembl chr 6:131,792,172...131,792,231 		JBrowse link
G OR2A4 olfactory receptor family 2 subfamily A member 4 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,699,644...131,701,401
Ensembl chr 6:131,699,644...131,701,401 		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 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 ClinVar
OMIM		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G LOC125146421 Sharpr-MPRA regulatory region 15590 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 ClinVar PMID:10835643 PMID:12673275 PMID:15098239 PMID:24033266 PMID:24352041 More... NCBI chr16:16,150,332...16,150,626 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 IAGP
EXP		 DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73
ClinVar Annotator: match by term: Calcification of joints and arteries		 OMIM
ClinVar
CTD		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IEP associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130003098 ATAC-STARR-seq lymphoblastoid silent region 20596 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:137,236,363...137,236,692 JBrowse link
G PTH parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO
ISS
IAGP		 OMIM:241530
DNA:deletions, snps:multiple (human)		 MouseDO
RGD		 PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP
EXP		 ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		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 EXP CTD Direct Evidence: therapeutic CTD PMID:1115441 PMID:12637657 NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354 		JBrowse link
G CALCR calcitonin receptor EXP CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chr 7:93,424,486...93,574,724
Ensembl chr 7:93,424,486...93,574,730 		JBrowse link
G CASR calcium sensing receptor ISO
IAGP
EXP		 ClinVar Annotator: match by term: Hypercalcemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R990G, p.E1011Q (human)		 ClinVar
CTD
RGD		 PMID:8675635 PMID:8878438 PMID:9011580 PMID:15591042 PMID:17284438 More... RGD:734698, RGD:7205445 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KL klotho EXP CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G PTH parathyroid hormone ISO
EXP		 associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 More... RGD:7242689 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTHLH parathyroid hormone like hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b EXP CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNFSF11 TNF superfamily member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 IAGP ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 ClinVar
OMIM		 PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More... NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G KL klotho EXP CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		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 IAGP ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:16688119 PMID:17576681 PMID:20466674 More... NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
Hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor no_association
susceptibility		 IAGP
ISO		 associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human)
DNA:missense mutation: :p.E1011Q (human)
mRNA, protein:increased expression:kidney (rat)
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human)		 RGD PMID:19887834 PMID:20602573 PMID:22137721 PMID:12239240 RGD:7205502, RGD:7205445, RGD:7205675, RGD:7205666 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CLDN16 claudin 16 IAGP ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting ClinVar PMID:14628289 NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:1324751 PMID:3017235 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PTH parathyroid hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:17164314 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9560283 PMID:21784483 RGD:7242936 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP ClinVar Annotator: match by term: Hypercalciuria ClinVar NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G VDR vitamin D receptor ISO protein:increased expression:kidney, small intestine RGD PMID:19929616 RGD:4889914 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		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 IAGP
EXP		 ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 More... NCBI chr 1:167,809,386...167,914,134
Ensembl chr 1:167,809,386...167,914,215 		JBrowse link
G DCAF6 DDB1 and CUL4 associated factor 6 IAGP ClinVar Annotator: match by term: Familial idiopathic hypercalciuria
ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria		 ClinVar PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 More... NCBI chr 1:167,863,576...168,075,836
Ensembl chr 1:167,935,783...168,075,843 		JBrowse link
Hypercalciuria, Childhood Idiopathic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KL klotho EXP CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		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 IAGP 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 chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cortical hyperostosis with hyperphosphatemia
ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
OMIM:211900		 CTD
ClinVar
MouseDO		 PMID:15133511 PMID:20358599 PMID:25741868 PMID:28492532 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659 		JBrowse link
G KL klotho IAGP
ISS		 ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
OMIM:211900		 ClinVar
MouseDO		 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,822,621...8,887,459
Ensembl chr12:8,822,621...8,887,001 		JBrowse link
G A2ML1-AS1 A2ML1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,776,211...8,831,306
Ensembl chr12:8,776,219...8,830,947 		JBrowse link
G AC007406.2 novel transcript IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:253,442...257,299
Ensembl chr12:253,442...257,299 		JBrowse link
G AC026369.1 novel transcript, antisense to IQSEC3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:137,411...149,169
Ensembl chr12:137,411...149,169 		JBrowse link
G ACRBP acrosin binding protein IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,638,075...6,647,432
Ensembl chr12:6,638,075...6,647,433 		JBrowse link
G ACSM4 acyl-CoA synthetase medium chain family member 4 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,304,072...7,328,719
Ensembl chr12:7,304,072...7,328,719 		JBrowse link
G ADIPOR2 adiponectin receptor 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674 		JBrowse link
G AICDA activation induced cytidine deaminase IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G AKAP3 A-kinase anchoring protein 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,615,518...4,649,051
Ensembl chr12:4,615,508...4,649,051 		JBrowse link
G ANO2 anoctamin 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,562,655...5,946,232
Ensembl chr12:5,531,869...5,946,232 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,649,400...7,670,599
Ensembl chr12:7,649,400...7,665,908 		JBrowse link
G ATN1 atrophin 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:459,939...563,509
Ensembl chr12:459,939...563,509 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G C1R complement C1r IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540 		JBrowse link
G C1RL complement C1r subcomponent like IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,094,554...7,109,214
Ensembl chr12:7,089,587...7,109,238 		JBrowse link
G C1RL-AS1 C1RL antisense RNA 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,108,308...7,121,851
Ensembl chr12:7,108,052...7,122,524 		JBrowse link
G C1S complement C1s IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G C3AR1 complement C3a receptor 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200 		JBrowse link
G CACNA1C-AS2 CACNA1C antisense RNA 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,668,500...2,672,220
Ensembl chr12:2,668,500...2,672,220 		JBrowse link
G CACNA1C-AS4 CACNA1C antisense RNA 4 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,220,537...2,223,481
Ensembl chr12:2,219,485...2,223,479 		JBrowse link
G CACNA1C-IT1 CACNA1C intronic transcript 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,016,671...2,028,839
Ensembl chr12:2,018,213...2,020,532 		JBrowse link
G CACNA1C-IT2 CACNA1C intronic transcript 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,048,352...2,049,463
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1C-IT3 CACNA1C intronic transcript 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,269,776...2,288,745
Ensembl chr12:2,269,776...2,288,937 		JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,791,963...1,918,652
Ensembl chr12:1,791,963...1,918,666 		JBrowse link
G CCDC77 coiled-coil domain containing 77 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:389,347...442,642
Ensembl chr12:389,273...442,642 		JBrowse link
G CCND2 cyclin D2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CCND2-AS1 CCND2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,248,767...4,276,184
Ensembl chr12:4,247,981...4,276,252 		JBrowse link
G CD163 CD163 molecule IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893 		JBrowse link
G CD163L1 CD163 molecule like 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,318,768...7,444,153
Ensembl chr12:7,346,685...7,479,897 		JBrowse link
G CD27 CD27 molecule IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718 		JBrowse link
G CD27-AS1 CD27 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,439,001...6,451,517
Ensembl chr12:6,439,001...6,451,607 		JBrowse link
G CD4 CD4 molecule IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799 		JBrowse link
G CD9 CD9 molecule IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,199,946...6,238,266
Ensembl chr12:6,199,715...6,238,271 		JBrowse link
G CDCA3 cell division cycle associated 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,844,798...6,851,286
Ensembl chr12:6,844,793...6,851,292 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G CLEC4A C-type lectin domain family 4 member A IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,102,907...8,138,607
Ensembl chr12:8,123,617...8,138,607 		JBrowse link
G CLEC4C C-type lectin domain family 4 member C IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,729,383...7,749,541
Ensembl chr12:7,729,383...7,751,605 		JBrowse link
G CLEC4D C-type lectin domain family 4 member D IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,513,503...8,531,696
Ensembl chr12:8,509,475...8,522,366 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,533,275...8,540,905
Ensembl chr12:8,533,305...8,540,905 		JBrowse link
G CLEC6A C-type lectin domain containing 6A IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,455,962...8,478,330
Ensembl chr12:8,455,962...8,478,330 		JBrowse link
G CLSTN3 calsyntenin 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,129,093...7,158,945
Ensembl chr12:7,129,698...7,158,945 		JBrowse link
G COPS7A COP9 signalosome subunit 7A IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,724,046...6,731,865
Ensembl chr12:6,724,014...6,731,875 		JBrowse link
G CRACR2A calcium release activated channel regulator 2A IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,615,328...3,753,109
Ensembl chr12:3,606,633...3,764,819 		JBrowse link
G DCP1B decapping mRNA 1B IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,941,591...2,004,457
Ensembl chr12:1,946,053...2,004,535 		JBrowse link
G DPPA3 developmental pluripotency associated 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,711,433...7,717,559
Ensembl chr12:7,711,433...7,717,559 		JBrowse link
G DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,562,208...4,613,875
Ensembl chr12:4,562,208...4,615,302 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936 		JBrowse link
G ENO2 enolase 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698 		JBrowse link
G ERC1 ELKS/RAB6-interacting/CAST family member 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:989,959...1,495,933
Ensembl chr12:990,509...1,495,933 		JBrowse link
G FAM138D family with sequence similarity 138 member D IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:36,661...38,133
Ensembl chr12:36,602...38,133 		JBrowse link
G FAM66C family with sequence similarity 66 member C IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,180,209...8,201,000
Ensembl chr12:8,180,207...8,216,151 		JBrowse link
G FAM90A1 family with sequence similarity 90 member A1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,221,260...8,227,618
Ensembl chr12:8,221,260...8,227,618 		JBrowse link
G FBXL14 F-box and leucine rich repeat protein 14 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,565,993...1,594,842
Ensembl chr12:1,565,993...1,594,581 		JBrowse link
G FERRY3 FERRY endosomal RAB5 effector complex subunit 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,487,735...4,538,469
Ensembl chr12:4,487,735...4,538,508 		JBrowse link
G FGF23 fibroblast growth factor 23 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G FGF6 fibroblast growth factor 6 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,434,142...4,445,815
Ensembl chr12:4,428,155...4,445,815 		JBrowse link
G FKBP4 FKBP prolyl isomerase 4 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,794,970...2,805,423
Ensembl chr12:2,794,970...2,805,423 		JBrowse link
G FOXJ2 forkhead box J2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,032,716...8,055,517
Ensembl chr12:8,032,716...8,055,517 		JBrowse link
G FOXM1 forkhead box M1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,857,680...2,877,174
Ensembl chr12:2,857,680...2,877,174 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 OMIM
ClinVar		 PMID:3839626 PMID:3998061 PMID:5899975 PMID:8338191 PMID:9536098 More... NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659 		JBrowse link
G GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,720,400...4,772,726
Ensembl chr12:4,720,400...4,851,927 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374 		JBrowse link
G GAU1 GALNT8 antisense upstream 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,700,417...4,720,102
Ensembl chr12:4,700,417...4,720,102 		JBrowse link
G GDF3 growth differentiation factor 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
G GNB3 G protein subunit beta 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393 		JBrowse link
G GPR162 G protein-coupled receptor 162 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,821,821...6,827,421
Ensembl chr12:6,821,624...6,829,972 		JBrowse link
G IFFO1 intermediate filament family orphan 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,538,961...6,556,042
Ensembl chr12:6,538,961...6,556,073 		JBrowse link
G ING4 inhibitor of growth family member 4 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,650,301...6,663,119
Ensembl chr12:6,650,301...6,663,142 		JBrowse link
G IQSEC3 IQ motif and Sec7 domain ArfGEF 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:66,767...178,455
Ensembl chr12:66,767...178,455 		JBrowse link
G IQSEC3-AS1 IQSEC3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:164,620...182,408 JBrowse link
G IQSEC3-AS2 IQSEC3 antisense RNA 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:106,524...111,761
Ensembl chr12:106,524...111,850
Ensembl chr12:106,524...111,850 		JBrowse link
G ITFG2 integrin alpha FG-GAP repeat containing 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,812,668...2,859,791
Ensembl chr12:2,812,622...2,859,791 		JBrowse link
G ITFG2-AS1 ITFG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,742,626...2,812,924
Ensembl chr12:2,796,877...2,812,902
Ensembl chr12:2,796,877...2,812,902 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788 		JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,809,334...4,851,112
Ensembl chr12:4,809,334...4,813,318 		JBrowse link
G KDM5A lysine demethylase 5A IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320 		JBrowse link
G KL klotho IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G KLRG1 killer cell lectin like receptor G1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,950,044...9,215,570
Ensembl chr12:8,950,044...9,010,760 		JBrowse link
G LAG3 lymphocyte activating 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,772,520...6,778,455
Ensembl chr12:6,772,512...6,778,455 		JBrowse link
G LINC00937 long intergenic non-protein coding RNA 937 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,356,963...8,390,752
Ensembl chr12:8,295,986...8,396,803 		JBrowse link
G LINC00940 long intergenic non-protein coding RNA 940 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,929,202...1,936,576
Ensembl chr12:1,929,202...1,936,574 		JBrowse link
G LINC00942 long intergenic non-protein coding RNA 942 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,500,491...1,504,424
Ensembl chr12:1,500,525...1,504,424 		JBrowse link
G LINC02371 long intergenic non-protein coding RNA 2371 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,740,075...2,746,662
Ensembl chr12:2,740,032...2,746,665 		JBrowse link
G LINC02417 long intergenic non-protein coding RNA 2417 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,368,108...3,371,601
Ensembl chr12:3,367,833...3,371,346 		JBrowse link
G LINC02443 long intergenic non-protein coding RNA 2443 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,233,996...5,243,151
Ensembl chr12:5,226,196...5,244,199 		JBrowse link
G LINC02449 long intergenic non-protein coding RNA 2449 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,235,415...8,242,564
Ensembl chr12:8,235,415...8,242,564 		JBrowse link
G LINC02455 long intergenic non-protein coding RNA 2455 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:672,592...716,612
Ensembl chr12:674,801...684,127 		JBrowse link
G LINC02827 long intergenic non-protein coding RNA 2827 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,300,363...3,338,662
Ensembl chr12:3,318,718...3,325,343 		JBrowse link
G LINC02972 long intergenic non-protein coding RNA 2972 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,788,253...8,798,249 JBrowse link
G LOC100128253 uncharacterized LOC100128253 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,298,514...3,366,122 JBrowse link
G LOC100507560 uncharacterized LOC100507560 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,015,078...5,025,594 JBrowse link
G LOC105369595 uncharacterized LOC105369595 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:585,698...586,486
Ensembl chr12:585,865...586,486 		JBrowse link
G LOC105369617 uncharacterized LOC105369617 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,121,950...5,394,189 JBrowse link
G LOC106799839 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7070721-7071520 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,961,558...6,962,357 JBrowse link
G LOC107436002 meiotic recombination hotspot F IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,638,845...5,641,797 JBrowse link
G LOC107832852 meiotic recombination hotspot 12B IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,044,062...4,047,461 JBrowse link
G LOC107832854 meiotic recombination hotspot 12D IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,789,977...5,792,123 JBrowse link
G LOC107984507 uncharacterized LOC107984507 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,527,723...1,532,192 JBrowse link
G LOC108178986 12p13 distal LINE-mediated recombination region IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,116,427...5,122,428 JBrowse link
G LOC108178987 12p13 proximal LINE-mediated recombination region IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,284,941...5,290,958 JBrowse link
G LOC108942766 NANOG 5' regulatory region IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,785,752...7,789,641 JBrowse link
G LOC109461484 atrophin 1 repeat instability region IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,936,717...6,936,775 JBrowse link
G LOC112136100 H3K4me1 hESC enhancer GRCh37_chr12:1913659-1914581 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,804,493...1,805,415 JBrowse link
G LOC112163552 Sharpr-MPRA regulatory region 2870 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,486,143...4,486,437 JBrowse link
G LOC112163597 Sharpr-MPRA regulatory region 4015 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:389,483...389,777 JBrowse link
G LOC112163604 Sharpr-MPRA regulatory region 4380 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:406,843...407,137 JBrowse link
G LOC112163620 Sharpr-MPRA regulatory region 3083 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,070,523...6,070,817 JBrowse link
G LOC112163621 Sharpr-MPRA regulatory region 14257 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,167,811...6,168,117 JBrowse link
G LOC112163622 Sharpr-MPRA regulatory region 10655 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,230,783...6,231,128 JBrowse link
G LOC112163623 Sharpr-MPRA regulatory region 10601 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,280,003...6,280,297 JBrowse link
G LOC112163625 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6446101-6446970 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,336,935...6,337,804 JBrowse link
G LOC112163626 Sharpr-MPRA regulatory region 3501 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,570,303...6,570,597 JBrowse link
G LOC112163630 Sharpr-MPRA regulatory region 10898 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,666,613...7,666,907 JBrowse link
G LOC113939935 Sharpr-MPRA regulatory region 10040 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,562,043...4,562,337 JBrowse link
G LOC116268425 CRISPRi-validated cis-regulatory element chr12.51 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:716,495...716,914 JBrowse link
G LOC116268426 CRISPRi-validated cis-regulatory element chr12.200 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,153,422...4,154,015 JBrowse link
G LOC116268427 CRISPRi-validated cis-regulatory element chr12.283 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,263,832...6,264,518 JBrowse link
G LOC116268428 CRISPRi-validated cis-regulatory element chr12.325 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,612,781...6,614,523 JBrowse link
G LOC116268429 CRISPRi-validated cis-regulatory element chr12.441 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,938,214...7,938,561 JBrowse link
G LOC116268430 CRISPRi-validated cis-regulatory element chr12.444 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,959,811...7,959,936 JBrowse link
G LOC116268431 CRISPRi-validated cis-regulatory element chr12.445 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,960,709...7,961,043 JBrowse link
G LOC120807612 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:4737023-4738222 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,627,857...4,629,056 JBrowse link
G LOC121392955 Sharpr-MPRA regulatory region 6322 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:646,583...646,877 JBrowse link
G LOC121392956 Sharpr-MPRA regulatory region 13344 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,073,443...3,073,737 JBrowse link
G LOC121403743 Sharpr-MPRA regulatory region 10584 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,085,743...3,086,037 JBrowse link
G LOC121403744 NANOG-H3K4me1 hESC enhancer GRCh37_chr12:4966717-4967360 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,857,551...4,858,194 JBrowse link
G LOC121466689 Sharpr-MPRA regulatory region 13442 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,092,493...7,092,787 JBrowse link
G LOC121466690 Sharpr-MPRA regulatory region 13430 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,588,813...7,589,107 JBrowse link
G LOC121832825 Sharpr-MPRA regulatory region 6988 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,133,103...3,133,397 JBrowse link
G LOC121832826 Sharpr-MPRA regulatory region 7545 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,107,383...4,107,677 JBrowse link
G LOC124625876 Sharpr-MPRA regulatory region 2537 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:583,643...583,937 JBrowse link
G LOC124625877 Sharpr-MPRA regulatory region 6010 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:991,743...992,037 JBrowse link
G LOC124625878 Sharpr-MPRA regulatory region 3814 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,630,369...1,630,677 JBrowse link
G LOC124625879 Sharpr-MPRA regulatory region 2999 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,825,703...1,825,997 JBrowse link
G LOC124625880 Sharpr-MPRA regulatory region 10568 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,993,463...1,993,757 JBrowse link
G LOC124625881 Sharpr-MPRA regulatory region 515 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,198,243...2,198,537 JBrowse link
G LOC124625882 Sharpr-MPRA regulatory region 8339 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,825,123...2,825,417 JBrowse link
G LOC124625883 Sharpr-MPRA regulatory region 7040 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,919,243...2,919,537 JBrowse link
G LOC124625884 Sharpr-MPRA regulatory region 741 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,999,223...2,999,517 JBrowse link
G LOC124625885 Sharpr-MPRA regulatory region 1542 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,300,763...3,301,057 JBrowse link
G LOC124625886 Sharpr-MPRA regulatory region 8601 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,204,023...4,204,317 JBrowse link
G LOC124625887 Sharpr-MPRA regulatory region 12719 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,388,083...4,388,377 JBrowse link
G LOC124625889 Sharpr-MPRA regulatory region 13428 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,758,143...4,758,437 JBrowse link
G LOC124625890 Sharpr-MPRA regulatory region 8722 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,244,763...5,245,057 JBrowse link
G LOC124625892 Sharpr-MPRA regulatory region 15487 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,996,463...5,996,757 JBrowse link
G LOC124625893 Sharpr-MPRA regulatory region 6202 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,118,903...6,119,197 JBrowse link
G LOC124625895 Sharpr-MPRA regulatory region 3368 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,219,263...6,219,557 JBrowse link
G LOC124625896 Sharpr-MPRA regulatory region 1171 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,786,783...6,787,077 JBrowse link
G LOC124625897 Sharpr-MPRA regulatory region 5519 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,162,653...7,162,947 JBrowse link
G LOC124625898 Sharpr-MPRA regulatory region 8483 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,890,913...7,891,207 JBrowse link
G LOC124625899 Sharpr-MPRA regulatory region 11326 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,390,543...8,390,847 JBrowse link
G LOC124625900 Sharpr-MPRA regulatory region 8322 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,819,373...8,819,667 JBrowse link
G LOC124906977 uncharacterized LOC124906977 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,395,440...8,453,056 JBrowse link
G LOC126861410 BRD4-independent group 4 enhancer GRCh37_chr12:415875-417074 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:306,709...307,908 JBrowse link
G LOC126861411 MED14-independent group 3 enhancer GRCh37_chr12:754531-755730 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:645,365...646,564 JBrowse link
G LOC126861412 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:1023012-1024211 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:913,846...915,453 JBrowse link
G LOC126861413 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:1224566-1225765 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,115,400...1,116,599 JBrowse link
G LOC126861414 BRD4-independent group 4 enhancer GRCh37_chr12:1597926-1599125 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,488,760...1,489,959 JBrowse link
G LOC126861415 MED14-independent group 3 enhancer GRCh37_chr12:1608954-1610153 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,499,788...1,501,195 JBrowse link
G LOC126861416 MED14-independent group 3 enhancer GRCh37_chr12:2063223-2064422 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,954,057...1,955,256 JBrowse link
G LOC126861417 MED14-independent group 3 enhancer GRCh37_chr12:2629110-2630309 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,519,944...2,521,143 JBrowse link
G LOC126861418 BRD4-independent group 4 enhancer GRCh37_chr12:2660049-2661248 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,550,883...2,552,082 JBrowse link
G LOC126861419 BRD4-independent group 4 enhancer GRCh37_chr12:2905599-2906798 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,796,433...2,797,632 JBrowse link
G LOC126861420 BRD4-independent group 4 enhancer GRCh37_chr12:3421757-3422956 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,312,591...3,313,790 JBrowse link
G LOC126861421 BRD4-independent group 4 enhancer GRCh37_chr12:3443867-3445066 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,334,701...3,335,900 JBrowse link
G LOC126861422 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:4932879-4934078 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,823,713...4,824,912 JBrowse link
G LOC126861423 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:5008995-5010194 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,899,829...4,901,028 JBrowse link
G LOC126861424 BRD4-independent group 4 enhancer GRCh37_chr12:5015702-5016901 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,906,536...4,907,735 JBrowse link
G LOC126861425 MED14-independent group 3 enhancer GRCh37_chr12:5248742-5249941 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,139,576...5,140,775 JBrowse link
G LOC126861426 BRD4-independent group 4 enhancer GRCh37_chr12:5282196-5283395 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,173,030...5,174,229 JBrowse link
G LOC126861427 MED14-independent group 3 enhancer GRCh37_chr12:5497373-5498572 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,388,207...5,389,406 JBrowse link
G LOC126861428 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:5618629-5619828 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,509,463...5,510,662 JBrowse link
G LOC126861429 BRD4-independent group 4 enhancer GRCh37_chr12:5629720-5630919 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,520,554...5,521,753 JBrowse link
G LOC126861430 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:5916007-5917206 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,806,841...5,808,040 JBrowse link
G LOC126861431 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:6040249-6041448 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,931,083...5,932,282 JBrowse link
G LOC126861432 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:6327115-6328314 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,217,949...6,219,251 JBrowse link
G LOC126861433 MED14-independent group 3 enhancer GRCh37_chr12:7260830-7262029 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,108,234...7,109,433 JBrowse link
G LOC126861434 MED14-independent group 3 enhancer GRCh37_chr12:7469109-7470308 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,316,513...7,317,712 JBrowse link
G LOC126861435 BRD4-independent group 4 enhancer GRCh37_chr12:7476238-7477437 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,323,642...7,324,841 JBrowse link
G LOC126861436 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:7521391-7522590 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,368,795...7,369,994 JBrowse link
G LOC126861437 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:7736568-7737767 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,583,972...7,585,171 JBrowse link
G LOC126861438 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:8003712-8004911 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,851,116...7,852,315 JBrowse link
G LOC126861439 BRD4-independent group 4 enhancer GRCh37_chr12:8134452-8135651 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,981,856...7,983,055 JBrowse link
G LOC126861440 MED14-independent group 3 enhancer GRCh37_chr12:8234132-8235331 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,081,536...8,082,735 JBrowse link
G LOC126861441 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:8375857-8377056 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,223,261...8,224,460 JBrowse link
G LOC126861442 MED14-independent group 3 enhancer GRCh37_chr12:8437184-8438383 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,284,588...8,285,787 JBrowse link
G LOC126861443 BRD4-independent group 4 enhancer GRCh37_chr12:8800473-8801672 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,647,877...8,649,076 JBrowse link
G LOC126861444 MED14-independent group 3 enhancer GRCh37_chr12:9108425-9109624 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,955,829...8,957,028 JBrowse link
G LOC129390385 MPRA-validated peak1534 silencer IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,269,070...1,269,270 JBrowse link
G LOC129390386 MPRA-validated peak1537 silencer IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,825,509...4,825,709 JBrowse link
G LOC129390387 MPRA-validated peak1541 silencer IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,739,910...5,740,110 JBrowse link
G LOC129390388 MPRA-validated peak1543 silencer IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,888,370...5,888,570 JBrowse link
G LOC129390389 MPRA-validated peak1551 silencer IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,655,390...6,655,590 JBrowse link
G LOC129390390 MPRA-validated peak1553 silencer IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,180,780...7,180,980 JBrowse link
G LOC129390391 MPRA-validated peak1554 silencer IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,259,110...7,259,310 JBrowse link
G LOC129390392 MPRA-validated peak1556 silencer IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,557,340...7,557,540 JBrowse link
G LOC129390393 MPRA-validated peak1559 silencer IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,610,240...7,610,440 JBrowse link
G LOC129390394 MPRA-validated peak1561 silencer IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,737,340...7,737,540 JBrowse link
G LOC129390395 MPRA-validated peak1563 silencer IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,862,740...7,862,940 JBrowse link
G LOC130007132 ATAC-STARR-seq lymphoblastoid silent region 4100 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:189,138...189,377 JBrowse link
G LOC130007133 ATAC-STARR-seq lymphoblastoid active region 5777 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:212,506...212,555 JBrowse link
G LOC130007134 ATAC-STARR-seq lymphoblastoid active region 5778 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:401,168...401,487 JBrowse link
G LOC130007135 ATAC-STARR-seq lymphoblastoid silent region 4102 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:630,677...630,756 JBrowse link
G LOC130007136 ATAC-STARR-seq lymphoblastoid silent region 4103 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:630,817...630,916 JBrowse link
G LOC130007137 ATAC-STARR-seq lymphoblastoid active region 5779 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:639,420...639,599 JBrowse link
G LOC130007138 ATAC-STARR-seq lymphoblastoid active region 5780 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:639,790...639,859 JBrowse link
G LOC130007139 ATAC-STARR-seq lymphoblastoid active region 5781 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:639,900...639,949 JBrowse link
G LOC130007140 ATAC-STARR-seq lymphoblastoid silent region 4104 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:642,593...643,182 JBrowse link
G LOC130007141 ATAC-STARR-seq lymphoblastoid silent region 4105 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:643,273...643,322 JBrowse link
G LOC130007142 ATAC-STARR-seq lymphoblastoid active region 5782 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:673,467...673,566 JBrowse link
G LOC130007143 ATAC-STARR-seq lymphoblastoid active region 5783 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:682,519...682,748 JBrowse link
G LOC130007144 ATAC-STARR-seq lymphoblastoid active region 5784 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:685,325...685,444 JBrowse link
G LOC130007145 ATAC-STARR-seq lymphoblastoid active region 5785 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:685,715...685,804 JBrowse link
G LOC130007146 ATAC-STARR-seq lymphoblastoid active region 5786 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:689,426...689,475 JBrowse link
G LOC130007147 ATAC-STARR-seq lymphoblastoid active region 5787 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:719,420...719,469 JBrowse link
G LOC130007148 ATAC-STARR-seq lymphoblastoid active region 5788 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:743,356...743,475 JBrowse link
G LOC130007149 ATAC-STARR-seq lymphoblastoid active region 5789 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:751,635...751,734 JBrowse link
G LOC130007150 ATAC-STARR-seq lymphoblastoid active region 5790 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:751,785...751,834 JBrowse link
G LOC130007151 ATAC-STARR-seq lymphoblastoid active region 5791 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:801,608...801,657 JBrowse link
G LOC130007152 ATAC-STARR-seq lymphoblastoid active region 5792 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:905,664...905,763 JBrowse link
G LOC130007153 ATAC-STARR-seq lymphoblastoid silent region 4110 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:990,898...991,007 JBrowse link
G LOC130007154 ATAC-STARR-seq lymphoblastoid active region 5795 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,094,946...1,095,095 JBrowse link
G LOC130007155 ATAC-STARR-seq lymphoblastoid active region 5796 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,423,197...1,423,246 JBrowse link
G LOC130007156 ATAC-STARR-seq lymphoblastoid active region 5797 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,473,442...1,473,511 JBrowse link
G LOC130007157 ATAC-STARR-seq lymphoblastoid silent region 4112 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,530,095...1,530,344 JBrowse link
G LOC130007158 ATAC-STARR-seq lymphoblastoid silent region 4113 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,530,435...1,530,544 JBrowse link
G LOC130007159 ATAC-STARR-seq lymphoblastoid active region 5798 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,533,558...1,533,757 JBrowse link
G LOC130007160 ATAC-STARR-seq lymphoblastoid active region 5799 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,533,908...1,534,057 JBrowse link
G LOC130007161 ATAC-STARR-seq lymphoblastoid active region 5800 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,554,268...1,554,337 JBrowse link
G LOC130007162 ATAC-STARR-seq lymphoblastoid active region 5801 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,554,398...1,554,457 JBrowse link
G LOC130007163 ATAC-STARR-seq lymphoblastoid active region 5802 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,554,738...1,554,837 JBrowse link
G LOC130007164 ATAC-STARR-seq lymphoblastoid active region 5803 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,581,669...1,581,718 JBrowse link
G LOC130007165 ATAC-STARR-seq lymphoblastoid active region 5804 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,593,656...1,593,845 JBrowse link
G LOC130007166 ATAC-STARR-seq lymphoblastoid silent region 4115 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,594,086...1,594,955 JBrowse link
G LOC130007167 ATAC-STARR-seq lymphoblastoid active region 5805 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,595,216...1,595,285 JBrowse link
G LOC130007168 ATAC-STARR-seq lymphoblastoid silent region 4116 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,630,149...1,630,338 JBrowse link
G LOC130007169 ATAC-STARR-seq lymphoblastoid active region 5808 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,630,859...1,630,958 JBrowse link
G LOC130007170 ATAC-STARR-seq lymphoblastoid silent region 4118 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,661,874...1,661,973 JBrowse link
G LOC130007171 ATAC-STARR-seq lymphoblastoid silent region 4119 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,662,064...1,662,153 JBrowse link
G LOC130007172 ATAC-STARR-seq lymphoblastoid active region 5809 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,669,114...1,669,163 JBrowse link
G LOC130007173 ATAC-STARR-seq lymphoblastoid active region 5810 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,690,573...1,690,732 JBrowse link
G LOC130007174 ATAC-STARR-seq lymphoblastoid active region 5811 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,690,753...1,690,802 JBrowse link
G LOC130007175 ATAC-STARR-seq lymphoblastoid silent region 4122 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,706,726...1,706,895 JBrowse link
G LOC130007176 ATAC-STARR-seq lymphoblastoid active region 5812 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,812,971...1,813,210 JBrowse link
G LOC130007177 ATAC-STARR-seq lymphoblastoid active region 5813 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,004,503...2,004,732 JBrowse link
G LOC130007178 ATAC-STARR-seq lymphoblastoid silent region 4127 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,034,942...2,035,231 JBrowse link
G LOC130007179 ATAC-STARR-seq lymphoblastoid silent region 4128 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,152,251...2,152,470 JBrowse link
G LOC130007180 ATAC-STARR-seq lymphoblastoid active region 5814 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,387,267...2,387,376 JBrowse link
G LOC130007181 ATAC-STARR-seq lymphoblastoid silent region 4129 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,691,617...2,691,886 JBrowse link
G LOC130007182 ATAC-STARR-seq lymphoblastoid silent region 4131 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,795,199...2,795,258 JBrowse link
G LOC130007183 ATAC-STARR-seq lymphoblastoid silent region 4132 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,795,609...2,796,018 JBrowse link
G LOC130007184 ATAC-STARR-seq lymphoblastoid silent region 4134 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,876,930...2,876,999 JBrowse link
G LOC130007185 ATAC-STARR-seq lymphoblastoid silent region 4135 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,877,040...2,877,479 JBrowse link
G LOC130007186 ATAC-STARR-seq lymphoblastoid active region 5816 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,890,287...2,890,466 JBrowse link
G LOC130007187 ATAC-STARR-seq lymphoblastoid silent region 4136 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,890,737...2,890,786 JBrowse link
G LOC130007188 ATAC-STARR-seq lymphoblastoid silent region 4138 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,076,885...3,076,934 JBrowse link
G LOC130007189 ATAC-STARR-seq lymphoblastoid silent region 4139 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,076,985...3,077,484 JBrowse link
G LOC130007190 ATAC-STARR-seq lymphoblastoid active region 5817 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,299,943...3,300,162 JBrowse link
G LOC130007191 ATAC-STARR-seq lymphoblastoid silent region 4140 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,313,819...3,313,868 JBrowse link
G LOC130007192 ATAC-STARR-seq lymphoblastoid silent region 4141 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,728,837...3,728,936 JBrowse link
G LOC130007193 ATAC-STARR-seq lymphoblastoid silent region 4142 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,752,844...3,753,343 JBrowse link
G LOC130007194 ATAC-STARR-seq lymphoblastoid silent region 4143 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,873,067...3,873,176 JBrowse link
G LOC130007195 ATAC-STARR-seq lymphoblastoid silent region 4144 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,031,162...4,031,401 JBrowse link
G LOC130007196 ATAC-STARR-seq lymphoblastoid active region 5818 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,107,765...4,107,824 JBrowse link
G LOC130007197 ATAC-STARR-seq lymphoblastoid active region 5819 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,118,378...4,118,507 JBrowse link
G LOC130007198 ATAC-STARR-seq lymphoblastoid active region 5820 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,146,345...4,146,444 JBrowse link
G LOC130007199 ATAC-STARR-seq lymphoblastoid silent region 4146 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,164,706...4,164,875 JBrowse link
G LOC130007200 ATAC-STARR-seq lymphoblastoid active region 5822 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,191,910...4,191,999 JBrowse link
G LOC130007201 ATAC-STARR-seq lymphoblastoid active region 5823 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,215,089...4,215,308 JBrowse link
G LOC130007202 ATAC-STARR-seq lymphoblastoid silent region 4147 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,269,379...4,269,588 JBrowse link
G LOC130007203 ATAC-STARR-seq lymphoblastoid silent region 4148 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,269,599...4,269,668 JBrowse link
G LOC130007204 ATAC-STARR-seq lymphoblastoid silent region 4149 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,271,183...4,271,252 JBrowse link
G LOC130007205 ATAC-STARR-seq lymphoblastoid silent region 4150 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,272,053...4,272,172 JBrowse link
G LOC130007206 ATAC-STARR-seq lymphoblastoid silent region 4151 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,272,953...4,273,072 JBrowse link
G LOC130007207 ATAC-STARR-seq lymphoblastoid silent region 4152 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,273,603...4,273,692 JBrowse link
G LOC130007208 ATAC-STARR-seq lymphoblastoid active region 5824 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,286,451...4,286,500 JBrowse link
G LOC130007209 ATAC-STARR-seq lymphoblastoid active region 5825 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,535,370...4,535,429 JBrowse link
G LOC130007210 ATAC-STARR-seq lymphoblastoid active region 5826 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,566,393...4,566,472 JBrowse link
G LOC130007211 ATAC-STARR-seq lymphoblastoid active region 5827 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,604,821...4,605,160 JBrowse link
G LOC130007212 ATAC-STARR-seq lymphoblastoid active region 5828 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,648,476...4,648,525 JBrowse link
G LOC130007213 ATAC-STARR-seq lymphoblastoid active region 5830 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,829,410...4,829,599 JBrowse link
G LOC130007214 ATAC-STARR-seq lymphoblastoid active region 5831 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,829,660...4,829,819 JBrowse link
G LOC130007215 ATAC-STARR-seq lymphoblastoid active region 5832 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,842,643...4,842,762 JBrowse link
G LOC130007216 ATAC-STARR-seq lymphoblastoid active region 5833 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,855,586...4,855,635 JBrowse link
G LOC130007217 ATAC-STARR-seq lymphoblastoid active region 5834 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,855,646...4,855,695 JBrowse link
G LOC130007218 ATAC-STARR-seq lymphoblastoid silent region 4155 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,911,287...4,911,426 JBrowse link
G LOC130007219 ATAC-STARR-seq lymphoblastoid active region 5835 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,983,842...4,983,891 JBrowse link
G LOC130007220 ATAC-STARR-seq lymphoblastoid active region 5836 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,016,230...5,016,299 JBrowse link
G LOC130007221 ATAC-STARR-seq lymphoblastoid active region 5837 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,016,330...5,016,429 JBrowse link
G LOC130007222 ATAC-STARR-seq lymphoblastoid active region 5838 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,049,552...5,049,601 JBrowse link
G LOC130007223 ATAC-STARR-seq lymphoblastoid active region 5839 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,049,692...5,049,811 JBrowse link
G LOC130007224 ATAC-STARR-seq lymphoblastoid active region 5840 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,059,602...5,059,751 JBrowse link
G LOC130007225 ATAC-STARR-seq lymphoblastoid silent region 4156 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,075,252...6,075,301 JBrowse link
G LOC130007226 ATAC-STARR-seq lymphoblastoid active region 5842 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,183,157...6,183,336 JBrowse link
G LOC130007227 ATAC-STARR-seq lymphoblastoid silent region 4157 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,194,096...6,194,145 JBrowse link
G LOC130007228 ATAC-STARR-seq lymphoblastoid silent region 4158 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,278,514...6,278,993 JBrowse link
G LOC130007229 ATAC-STARR-seq lymphoblastoid silent region 4159 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,310,579...6,310,628 JBrowse link
G LOC130007230 ATAC-STARR-seq lymphoblastoid active region 5844 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,312,838...6,313,147 JBrowse link
G LOC130007231 ATAC-STARR-seq lymphoblastoid active region 5846 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,323,482...6,323,571 JBrowse link
G LOC130007232 ATAC-STARR-seq lymphoblastoid active region 5847 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,330,238...6,330,367 JBrowse link
G LOC130007233 ATAC-STARR-seq lymphoblastoid active region 5850 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,341,879...6,341,978 JBrowse link
G LOC130007234 ATAC-STARR-seq lymphoblastoid active region 5851 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,423,467...6,423,516 JBrowse link
G LOC130007235 ATAC-STARR-seq lymphoblastoid active region 5852 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,426,828...6,426,937 JBrowse link
G LOC130007236 ATAC-STARR-seq lymphoblastoid active region 5853 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,426,978...6,427,217 JBrowse link
G LOC130007237 ATAC-STARR-seq lymphoblastoid silent region 4161 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,442,737...6,442,876 JBrowse link
G LOC130007238 ATAC-STARR-seq lymphoblastoid silent region 4162 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,442,977...6,443,056 JBrowse link
G LOC130007239 ATAC-STARR-seq lymphoblastoid active region 5854 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,444,047...6,444,116 JBrowse link
G LOC130007240 ATAC-STARR-seq lymphoblastoid active region 5855 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,444,137...6,444,186 JBrowse link
G LOC130007241 ATAC-STARR-seq lymphoblastoid active region 5858 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,446,116...6,446,235 JBrowse link
G LOC130007242 ATAC-STARR-seq lymphoblastoid active region 5859 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,450,852...6,451,061 JBrowse link
G LOC130007243 ATAC-STARR-seq lymphoblastoid active region 5860 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,451,152...6,451,311 JBrowse link
G LOC130007244 ATAC-STARR-seq lymphoblastoid active region 5861 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,451,742...6,452,341 JBrowse link
G LOC130007245 ATAC-STARR-seq lymphoblastoid silent region 4163 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,470,159...6,470,208 JBrowse link
G LOC130007246 ATAC-STARR-seq lymphoblastoid silent region 4164 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,470,709...6,470,758 JBrowse link
G LOC130007247 ATAC-STARR-seq lymphoblastoid silent region 4165 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,470,969...6,471,228 JBrowse link
G LOC130007248 ATAC-STARR-seq lymphoblastoid active region 5862 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,493,480...6,493,529 JBrowse link
G LOC130007249 ATAC-STARR-seq lymphoblastoid active region 5864 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,539,570...6,539,779 JBrowse link
G LOC130007250 ATAC-STARR-seq lymphoblastoid active region 5865 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,540,560...6,540,709 JBrowse link
G LOC130007251 ATAC-STARR-seq lymphoblastoid active region 5866 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,540,740...6,540,879 JBrowse link
G LOC130007252 ATAC-STARR-seq lymphoblastoid silent region 4169 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,555,480...6,555,659 JBrowse link
G LOC130007253 ATAC-STARR-seq lymphoblastoid silent region 4170 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,555,770...6,556,009 JBrowse link
G LOC130007254 ATAC-STARR-seq lymphoblastoid silent region 4171 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,556,060...6,556,219 JBrowse link
G LOC130007255 ATAC-STARR-seq lymphoblastoid active region 5868 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,605,950...6,606,109 JBrowse link
G LOC130007256 ATAC-STARR-seq lymphoblastoid silent region 4172 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,606,460...6,606,509 JBrowse link
G LOC130007257 ATAC-STARR-seq lymphoblastoid silent region 4173 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,606,690...6,606,749 JBrowse link
G LOC130007258 ATAC-STARR-seq lymphoblastoid silent region 4174 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,607,160...6,607,259 JBrowse link
G LOC130007259 ATAC-STARR-seq lymphoblastoid active region 5869 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,607,850...6,607,999 JBrowse link
G LOC130007260 ATAC-STARR-seq lymphoblastoid active region 5870 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,632,001...6,632,050 JBrowse link
G LOC130007261 ATAC-STARR-seq lymphoblastoid active region 5871 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,632,901...6,632,960 JBrowse link
G LOC130007262 ATAC-STARR-seq lymphoblastoid silent region 4176 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,633,876...6,633,925 JBrowse link
G LOC130007263 ATAC-STARR-seq lymphoblastoid active region 5872 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,638,837...6,638,896 JBrowse link
G LOC130007264 ATAC-STARR-seq lymphoblastoid active region 5874 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,663,090...6,663,149 JBrowse link
G LOC130007265 ATAC-STARR-seq lymphoblastoid active region 5875 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,696,782...6,696,891 JBrowse link
G LOC130007266 ATAC-STARR-seq lymphoblastoid active region 5876 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,723,971...6,724,180 JBrowse link
G LOC130007267 ATAC-STARR-seq lymphoblastoid active region 5877 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,724,211...6,724,350 JBrowse link
G LOC130007268 ATAC-STARR-seq lymphoblastoid active region 5878 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,724,481...6,724,700 JBrowse link
G LOC130007269 ATAC-STARR-seq lymphoblastoid silent region 4179 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,753,038...6,753,277 JBrowse link
G LOC130007270 ATAC-STARR-seq lymphoblastoid active region 5879 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,753,448...6,753,497 JBrowse link
G LOC130007271 ATAC-STARR-seq lymphoblastoid active region 5880 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,753,528...6,753,697 JBrowse link
G LOC130007272 ATAC-STARR-seq lymphoblastoid silent region 4180 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,766,228...6,766,557 JBrowse link
G LOC130007273 ATAC-STARR-seq lymphoblastoid silent region 4181 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,766,668...6,767,167 JBrowse link
G LOC130007274 ATAC-STARR-seq lymphoblastoid silent region 4182 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,773,780...6,774,109 JBrowse link
G LOC130007275 ATAC-STARR-seq lymphoblastoid active region 5883 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,792,550...6,792,599 JBrowse link
G LOC130007276 ATAC-STARR-seq lymphoblastoid silent region 4184 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,851,292...6,851,341 JBrowse link
G LOC130007277 ATAC-STARR-seq lymphoblastoid active region 5885 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,851,502...6,851,781 JBrowse link
G LOC130007278 ATAC-STARR-seq lymphoblastoid silent region 4186 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,853,092...6,853,141 JBrowse link
G LOC130007279 ATAC-STARR-seq lymphoblastoid silent region 4187 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,867,378...6,867,427 JBrowse link
G LOC130007280 ATAC-STARR-seq lymphoblastoid silent region 4188 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,867,698...6,868,137 JBrowse link
G LOC130007281 ATAC-STARR-seq lymphoblastoid silent region 4189 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,871,963...6,872,082 JBrowse link
G LOC130007282 ATAC-STARR-seq lymphoblastoid active region 5888 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,872,633...6,872,872 JBrowse link
G LOC130007283 ATAC-STARR-seq lymphoblastoid silent region 4190 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,873,263...6,873,712 JBrowse link
G LOC130007284 ATAC-STARR-seq lymphoblastoid silent region 4191 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,891,080...6,891,369 JBrowse link
G LOC130007285 ATAC-STARR-seq lymphoblastoid active region 5889 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,913,983...6,914,052 JBrowse link
G LOC130007286 ATAC-STARR-seq lymphoblastoid active region 5890 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,914,083...6,914,252 JBrowse link
G LOC130007287 ATAC-STARR-seq lymphoblastoid active region 5891 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,922,332...6,922,421 JBrowse link
G LOC130007288 ATAC-STARR-seq lymphoblastoid silent region 4193 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,927,568...6,927,617 JBrowse link
G LOC130007289 ATAC-STARR-seq lymphoblastoid silent region 4194 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,927,798...6,927,957 JBrowse link
G LOC130007290 ATAC-STARR-seq lymphoblastoid silent region 4195 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,937,529...6,937,598 JBrowse link
G LOC130007291 ATAC-STARR-seq lymphoblastoid silent region 4196 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,946,605...6,946,654 JBrowse link
G LOC130007292 ATAC-STARR-seq lymphoblastoid active region 5896 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,949,352...6,949,401 JBrowse link
G LOC130007293 ATAC-STARR-seq lymphoblastoid active region 5897 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,953,563...6,953,822 JBrowse link
G LOC130007294 ATAC-STARR-seq lymphoblastoid active region 5898 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,953,953...6,954,002 JBrowse link
G LOC130007295 ATAC-STARR-seq lymphoblastoid active region 5899 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,954,323...6,954,372 JBrowse link
G LOC130007296 ATAC-STARR-seq lymphoblastoid active region 5900 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,954,723...6,954,872 JBrowse link
G LOC130007297 ATAC-STARR-seq lymphoblastoid active region 5901 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,957,333...6,957,462 JBrowse link
G LOC130007298 ATAC-STARR-seq lymphoblastoid active region 5902 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,957,493...6,957,612 JBrowse link
G LOC130007299 ATAC-STARR-seq lymphoblastoid active region 5903 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,957,987...6,958,046 JBrowse link
G LOC130007300 ATAC-STARR-seq lymphoblastoid active region 5904 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,958,167...6,958,356 JBrowse link
G LOC130007301 ATAC-STARR-seq lymphoblastoid active region 5905 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,958,367...6,958,536 JBrowse link
G LOC130007302 ATAC-STARR-seq lymphoblastoid active region 5906 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,958,977...6,959,076 JBrowse link
G LOC130007303 ATAC-STARR-seq lymphoblastoid active region 5907 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,959,297...6,959,346 JBrowse link
G LOC130007304 ATAC-STARR-seq lymphoblastoid active region 5908 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,960,627...6,960,706 JBrowse link
G LOC130007305 ATAC-STARR-seq lymphoblastoid active region 5910 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,964,942...6,964,991 JBrowse link
G LOC130007306 ATAC-STARR-seq lymphoblastoid silent region 4197 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,018,827...7,019,086 JBrowse link
G LOC130007307 ATAC-STARR-seq lymphoblastoid silent region 4198 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,130,128...7,130,227 JBrowse link
G LOC130007308 ATAC-STARR-seq lymphoblastoid silent region 4199 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,131,318...7,131,387 JBrowse link
G LOC130007309 ATAC-STARR-seq lymphoblastoid active region 5916 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,189,483...7,189,542 JBrowse link
G LOC130007310 ATAC-STARR-seq lymphoblastoid silent region 4202 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,638,822...7,638,951 JBrowse link
G LOC130007311 ATAC-STARR-seq lymphoblastoid silent region 4203 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,640,033...7,640,132 JBrowse link
G LOC130007312 ATAC-STARR-seq lymphoblastoid active region 5919 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,677,443...7,677,512 JBrowse link
G LOC130007313 ATAC-STARR-seq lymphoblastoid active region 5920 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,749,151...7,749,230 JBrowse link
G LOC130007314 ATAC-STARR-seq lymphoblastoid active region 5921 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,749,251...7,749,430 JBrowse link
G LOC130007315 ATAC-STARR-seq lymphoblastoid active region 5922 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,749,611...7,749,690 JBrowse link
G LOC130007316 ATAC-STARR-seq lymphoblastoid silent region 4204 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,806,973...7,807,132 JBrowse link
G LOC130007317 ATAC-STARR-seq lymphoblastoid silent region 4205 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,936,316...7,936,365 JBrowse link
G LOC130007318 ATAC-STARR-seq lymphoblastoid active region 5923 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,958,766...7,958,875 JBrowse link
G LOC130007319 ATAC-STARR-seq lymphoblastoid active region 5924 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,026,816...8,027,005 JBrowse link
G LOC130007320 ATAC-STARR-seq lymphoblastoid silent region 4206 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,032,401...8,032,550 JBrowse link
G LOC130007321 ATAC-STARR-seq lymphoblastoid silent region 4207 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,032,571...8,032,810 JBrowse link
G LOC130007322 ATAC-STARR-seq lymphoblastoid active region 5925 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,037,312...8,037,411 JBrowse link
G LOC130007323 ATAC-STARR-seq lymphoblastoid active region 5926 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,038,920...8,039,049 JBrowse link
G LOC130007324 ATAC-STARR-seq lymphoblastoid active region 5929 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,123,487...8,123,536 JBrowse link
G LOC130007325 ATAC-STARR-seq lymphoblastoid active region 5930 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,180,248...8,180,377 JBrowse link
G LOC130007326 ATAC-STARR-seq lymphoblastoid active region 5931 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,227,180...8,227,229 JBrowse link
G LOC130007327 ATAC-STARR-seq lymphoblastoid silent region 4209 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,242,689...8,242,868 JBrowse link
G LOC130007328 ATAC-STARR-seq lymphoblastoid silent region 4210 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,243,029...8,243,138 JBrowse link
G LOC130007329 ATAC-STARR-seq lymphoblastoid silent region 4211 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,243,349...8,243,728 JBrowse link
G LOC130007330 ATAC-STARR-seq lymphoblastoid silent region 4212 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,243,819...8,243,868 JBrowse link
G LOC130007331 ATAC-STARR-seq lymphoblastoid silent region 4213 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,243,929...8,243,978 JBrowse link
G LOC130007332 ATAC-STARR-seq lymphoblastoid active region 5932 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,316,119...8,316,308 JBrowse link
G LOC130007333 ATAC-STARR-seq lymphoblastoid active region 5933 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,396,511...8,396,770 JBrowse link
G LOC130007334 ATAC-STARR-seq lymphoblastoid active region 5934 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,396,891...8,396,940 JBrowse link
G LOC130007335 ATAC-STARR-seq lymphoblastoid active region 5935 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,493,076...8,493,125 JBrowse link
G LOC130007336 ATAC-STARR-seq lymphoblastoid active region 5936 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,629,508...8,629,727 JBrowse link
G LOC130007337 ATAC-STARR-seq lymphoblastoid silent region 4218 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,914,391...8,914,500 JBrowse link
G LOC130007338 ATAC-STARR-seq lymphoblastoid silent region 4219 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,914,551...8,914,600 JBrowse link
G LOC130007339 ATAC-STARR-seq lymphoblastoid silent region 4220 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,914,671...8,914,960 JBrowse link
G LOC132090142 Neanderthal introgressed variant-containing enhancer experimental_30893 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,546,765...7,546,934 JBrowse link
G LPAR5 lysophosphatidic acid receptor 5 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,618,835...6,635,959
Ensembl chr12:6,618,835...6,635,960 		JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,976,185...7,018,476
Ensembl chr12:6,976,185...7,018,477 		JBrowse link
G LRRC23 leucine rich repeat containing 23 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,904,822...6,914,229
Ensembl chr12:6,873,569...6,914,241 		JBrowse link
G LRTM2 leucine rich repeats and transmembrane domains 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,820,565...1,836,753
Ensembl chr12:1,820,267...1,836,753 		JBrowse link
G LTBR lymphotoxin beta receptor IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,375,160...6,391,566
Ensembl chr12:6,375,045...6,391,571 		JBrowse link
G M6PR mannose-6-phosphate receptor, cation dependent IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,940,361...8,949,645
Ensembl chr12:8,940,361...8,949,761 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MIR141 microRNA 141 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,964,097...6,964,191
Ensembl chr12:6,964,097...6,964,191 		JBrowse link
G MIR200C microRNA 200c IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,963,699...6,963,766
Ensembl chr12:6,963,699...6,963,766 		JBrowse link
G MIR200CHG MIR200C and MIR141 host gene IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,963,245...6,964,447
Ensembl chr12:6,963,226...6,964,447 		JBrowse link
G MIR3649 microRNA 3649 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,660,315...1,660,380
Ensembl chr12:1,660,315...1,660,380 		JBrowse link
G MLF2 myeloid leukemia factor 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,747,996...6,753,141
Ensembl chr12:6,747,996...6,767,475 		JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,491,886...6,493,262
Ensembl chr12:6,491,886...6,493,841 		JBrowse link
G NANOG Nanog homeobox IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,789,402...7,799,146
Ensembl chr12:7,787,794...7,799,146 		JBrowse link
G NANOGNB NANOG neighbor homeobox IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,765,216...7,774,121
Ensembl chr12:7,765,216...7,774,121 		JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,494,102...6,531,955
Ensembl chr12:6,493,356...6,531,955 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,649,114...4,694,317
Ensembl chr12:4,649,095...4,694,317 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881 		JBrowse link
G NINJ2 ninjurin 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:564,296...663,445
Ensembl chr12:564,296...663,589 		JBrowse link
G NINJ2-AS1 NINJ2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:630,891...645,878
Ensembl chr12:630,858...664,196 		JBrowse link
G NOP2 NOP2 nucleolar protein IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,556,871...6,568,291
Ensembl chr12:6,556,863...6,568,691 		JBrowse link
G NRIP2 nuclear receptor interacting protein 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,825,348...2,835,035
Ensembl chr12:2,825,348...2,835,544 		JBrowse link
G NTF3 neurotrophin 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,828,407...6,839,847
Ensembl chr12:6,828,407...6,839,847 		JBrowse link
G PARP11 poly(ADP-ribose) polymerase family member 11 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,808,861...3,873,399
Ensembl chr12:3,791,047...3,873,448 		JBrowse link
G PARP11-AS1 PARP11 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,870,172...3,910,382
Ensembl chr12:3,871,579...3,910,385 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PHB2 prohibitin 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,965,327...6,970,753
Ensembl chr12:6,965,327...6,970,780 		JBrowse link
G PHC1 polyhomeotic homolog 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,913,843...8,941,467
Ensembl chr12:8,913,896...8,941,467 		JBrowse link
G PIANP PILR alpha associated neural protein IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,692,178...6,700,815
Ensembl chr12:6,693,791...6,700,815 		JBrowse link
G PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,310,332...6,328,506
Ensembl chr12:6,310,436...6,328,506 		JBrowse link
G PRMT8 protein arginine methyltransferase 8 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,381,349...3,593,973
Ensembl chr12:3,381,349...3,593,973 		JBrowse link
G PTMS parathymosin IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,766,363...6,770,952
Ensembl chr12:6,765,516...6,770,952 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G RAD51AP1 RAD51 associated protein 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,538,890...4,560,047
Ensembl chr12:4,538,798...4,560,047 		JBrowse link
G RAD52 RAD52 homolog, DNA repair protein IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053 		JBrowse link
G RBP5 retinol binding protein 5 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,115,736...7,130,005
Ensembl chr12:7,115,736...7,128,889 		JBrowse link
G RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,876,265...2,889,524
Ensembl chr12:2,876,258...2,889,524 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,668,638...8,783,091
Ensembl chr12:8,681,600...8,783,095 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SCARNA10 small Cajal body-specific RNA 10 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,510,222...6,510,551
Ensembl chr12:6,510,222...6,510,551 		JBrowse link
G SCARNA11 small Cajal body-specific RNA 11 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,581,473...6,581,609
Ensembl chr12:6,581,474...6,581,609 		JBrowse link
G SCARNA12 small Cajal body-specific RNA 12 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,967,337...6,967,606
Ensembl chr12:6,967,337...6,967,606 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SLC2A14 solute carrier family 2 member 14 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,812,514...7,891,196
Ensembl chr12:7,812,512...7,891,148 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G SLC6A12 solute carrier family 6 member 12 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:183,848...214,157
Ensembl chr12:190,077...214,570 		JBrowse link
G SLC6A12-AS1 SLC6A12 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:203,645...205,093
Ensembl chr12:203,642...205,094 		JBrowse link
G SLC6A13 solute carrier family 6 member 13 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:220,622...262,836
Ensembl chr12:220,621...262,873 		JBrowse link
G SNORA120 small nucleolar RNA, H/ACA box 120 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,040,037...6,040,183 JBrowse link
G SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,875,764...6,889,358
Ensembl chr12:6,870,935...6,889,358 		JBrowse link
G SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,870,935...6,873,303
Ensembl chr12:6,870,935...6,889,358 		JBrowse link
G TAPBPL TAP binding protein like IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,451,649...6,472,006
Ensembl chr12:6,451,690...6,466,517 		JBrowse link
G TEAD4 TEA domain transcription factor 4 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,959,397...3,040,676
Ensembl chr12:2,959,330...3,040,676 		JBrowse link
G TEX52 testis expressed 52 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,847,723...2,857,039
Ensembl chr12:2,849,046...2,857,039 		JBrowse link
G THCAT155 thyroid cancer-associated transcript 155 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,483,712...3,492,819
Ensembl chr12:3,483,714...3,492,819 		JBrowse link
G TIGAR TP53 induced glycolysis regulatory phosphatase IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:4,321,213...4,360,028
Ensembl chr12:4,307,763...4,360,028 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TPI1 triosephosphate isomerase 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948 		JBrowse link
G TSPAN9 tetraspanin 9 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,077,379...3,286,559
Ensembl chr12:3,077,355...3,286,564 		JBrowse link
G TSPAN9-IT1 TSPAN9 intronic transcript 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:3,149,797...3,151,476
Ensembl chr12:3,149,797...3,151,476 		JBrowse link
G TULP3 TUB like protein 3 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:2,890,891...2,941,138
Ensembl chr12:2,877,223...2,941,138 		JBrowse link
G USP5 ubiquitin specific peptidase 5 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,852,150...6,866,632
Ensembl chr12:6,852,148...6,866,632 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G VWF von Willebrand factor IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452 		JBrowse link
G WNT5B Wnt family member 5B IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:1,617,056...1,647,212
Ensembl chr12:1,529,891...1,647,212 		JBrowse link
G ZNF384 zinc finger protein 384 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:6,666,477...6,689,572
Ensembl chr12:6,666,477...6,689,572 		JBrowse link
G ZNF705A zinc finger protein 705A IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr12:8,157,015...8,180,046
Ensembl chr12:8,157,015...8,188,537 		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 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2 ClinVar
OMIM		 PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 More... NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		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 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17710231 PMID:25741868 PMID:28492532 More... NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G LOC130009539 ATAC-STARR-seq lymphoblastoid silent region 5254 IAGP ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3 ClinVar NCBI chr13:33,017,219...33,017,318 JBrowse link
Hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor IAGP
EXP		 ClinVar Annotator: match by term: Hypocalcemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:7874174 PMID:11701698 PMID:25741868 PMID:28492532 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:3017235 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PTH parathyroid hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:11701698 PMID:11770836 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP DNA:frameshift mutation:CDS:p.G387AfsX73 (human) RGD PMID:32110744 RGD:155641234 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		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 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 PMID:35738466 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FGF23 fibroblast growth factor 23 IDA
IAGP		 ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar
RGD		 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... RGD:10044208 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G LOC130007784 ATAC-STARR-seq lymphoblastoid silent region 4404 IAGP ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar NCBI chr12:47,904,987...47,905,116 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets		 ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHEX-AS1 PHEX antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr  X:22,162,732...22,172,983
Ensembl chr  X:22,162,733...22,172,983 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		JBrowse link
G PRSS1 serine protease 1 IAGP ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets		 ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:10737991 PMID:11468271 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		JBrowse link
G TRB T cell receptor beta locus IAGP ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,299,011...142,813,287 JBrowse link
G VDR vitamin D receptor IAGP ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Y901S (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... RGD:6906930, RGD:6906931 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		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 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,752,620...42,768,786
Ensembl chr 8:42,752,620...42,796,392 		JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,697,366...42,737,407
Ensembl chr 8:42,697,366...42,737,407 		JBrowse link
G DUOX2 dual oxidase 2 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G FNTA farnesyltransferase, CAAX box, subunit alpha IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:43,056,323...43,085,785
Ensembl chr 8:43,034,194...43,085,788 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535 		JBrowse link
G LOC130000303 ATAC-STARR-seq lymphoblastoid silent region 19157 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chr 8:42,541,586...42,542,005 JBrowse link
G PDGFB platelet derived growth factor subunit B EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1		 CTD
ClinVar		 PMID:23913003 PMID:25741868 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP
EXP		 ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar Annotator: match by term: SLC20A2-related condition
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:20301594 PMID:22327515 PMID:23334463 PMID:23437308 More... NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SMIM19 small integral membrane protein 19 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,541,148...42,555,195
Ensembl chr 8:42,541,155...42,555,195 		JBrowse link
G THAP1 THAP domain containing 1 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		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 IAGP
EXP		 ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 More... NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		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 IAGP
EXP		 ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:21409505 PMID:23913003 PMID:25741868 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		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 IAGP
EXP		 ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6
ClinVar Annotator: match by term: XPR1-related primary familial brain calcification
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279 		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) IAGP ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 More... NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		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 IAGP 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 chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562 		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 IAGP ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		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 IAGP 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 chr 1:1,292,391...1,307,930
Ensembl chr 1:1,292,390...1,309,609 		JBrowse link
G ACTRT2 actin related protein T2 IAGP 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 chr 1:3,021,467...3,022,903
Ensembl chr 1:3,021,467...3,022,903 		JBrowse link
G AGRN agrin IAGP 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 chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 IAGP 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 chr 1:1,418,420...1,421,276
Ensembl chr 1:1,418,420...1,421,769 		JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 IAGP 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 chr 1:3,454,665...3,481,113
Ensembl chr 1:3,454,665...3,481,113 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP 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 chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATAD3B ATPase family AAA domain containing 3B IAGP 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 chr 1:1,471,765...1,509,466
Ensembl chr 1:1,471,765...1,497,848 		JBrowse link
G ATAD3C ATPase family AAA domain containing 3C IAGP 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 chr 1:1,449,689...1,470,163
Ensembl chr 1:1,449,689...1,470,163 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 IAGP 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 chr 1:1,373,736...1,375,207
Ensembl chr 1:1,373,730...1,375,207 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP 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 chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G C1orf159 chromosome 1 open reading frame 159 IAGP 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 chr 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361 		JBrowse link
G C1QTNF12 C1q and TNF related 12 IAGP 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 chr 1:1,242,453...1,247,280
Ensembl chr 1:1,242,446...1,246,722 		JBrowse link
G CALML6 calmodulin like 6 IAGP 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 chr 1:1,915,260...1,917,296
Ensembl chr 1:1,915,108...1,917,296 		JBrowse link
G CCDC27 coiled-coil domain containing 27 IAGP 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 chr 1:3,752,450...3,771,645
Ensembl chr 1:3,746,460...3,771,645 		JBrowse link
G CCNL2 cyclin L2 IAGP 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 chr 1:1,385,711...1,399,335
Ensembl chr 1:1,385,711...1,399,335 		JBrowse link
G CDK11A cyclin dependent kinase 11A IAGP 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 chr 1:1,702,379...1,724,357
Ensembl chr 1:1,702,379...1,724,357 		JBrowse link
G CDK11B cyclin dependent kinase 11B IAGP 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 chr 1:1,635,225...1,659,004
Ensembl chr 1:1,635,225...1,659,012 		JBrowse link
G CEP104 centrosomal protein 104 IAGP 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 chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP 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 chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein IAGP 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 chr 1:1,324,802...1,328,896
Ensembl chr 1:1,324,756...1,328,896 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP 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 chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G FAAP20 FA core complex associated protein 20 IAGP 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 chr 1:2,184,477...2,212,720
Ensembl chr 1:2,184,461...2,212,720 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 IAGP 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 chr 1:1,598,012...1,600,135
Ensembl chr 1:1,598,012...1,600,135 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP 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 chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP 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 chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G HES4 hes family bHLH transcription factor 4 IAGP 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 chr 1:998,964...1,000,097
Ensembl chr 1:998,962...1,000,172 		JBrowse link
G HES5 hes family bHLH transcription factor 5 IAGP 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 chr 1:2,528,745...2,530,263
Ensembl chr 1:2,528,745...2,530,263 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP 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 chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier IAGP
EXP		 ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540 		JBrowse link
G KLHL17 kelch like family member 17 IAGP 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 chr 1:960,584...965,719
Ensembl chr 1:960,584...965,719 		JBrowse link
G LRRC47 leucine rich repeat containing 47 IAGP 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 chr 1:3,778,559...3,796,498
Ensembl chr 1:3,778,559...3,796,498 		JBrowse link
G MEGF6 multiple EGF like domains 6 IAGP 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 chr 1:3,487,951...3,624,786
Ensembl chr 1:3,487,951...3,611,508 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 IAGP 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 chr 1:1,613,731...1,630,605
Ensembl chr 1:1,615,454...1,630,605 		JBrowse link
G MIR200A microRNA 200a IAGP 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 chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952 		JBrowse link
G MIR200B microRNA 200b IAGP 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 chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198 		JBrowse link
G MIR429 microRNA 429 IAGP 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 chr 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087 		JBrowse link
G MIR551A microRNA 551a IAGP 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 chr 1:3,560,695...3,560,790
Ensembl chr 1:3,560,695...3,560,790 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP 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 chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP 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 chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MORN1 MORN repeat containing 1 IAGP 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 chr 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 IAGP 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 chr 1:1,401,909...1,407,293
Ensembl chr 1:1,401,909...1,407,293 		JBrowse link
G MXRA8 matrix remodeling associated 8 IAGP 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 chr 1:1,352,689...1,363,541
Ensembl chr 1:1,352,689...1,361,777 		JBrowse link
G NADK NAD kinase IAGP 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 chr 1:1,751,232...1,780,514
Ensembl chr 1:1,751,232...1,780,457 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor IAGP 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 chr 1:944,203...959,256
Ensembl chr 1:944,203...959,309 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) IAGP 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 chr 1:2,508,537...2,526,596
Ensembl chr 1:2,508,537...2,526,597 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP 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 chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PLCH2 phospholipase C eta 2 IAGP 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 chr 1:2,415,943...2,505,532
Ensembl chr 1:2,425,980...2,505,532 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 IAGP 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 chr 1:966,482...975,865
Ensembl chr 1:966,482...975,865 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP 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 chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKCZ protein kinase C zeta IAGP 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 chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRXL2B peroxiredoxin like 2B IAGP 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 chr 1:2,586,523...2,591,468
Ensembl chr 1:2,586,491...2,591,469 		JBrowse link
G PUSL1 pseudouridine synthase like 1 IAGP 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 chr 1:1,308,597...1,311,677
Ensembl chr 1:1,308,597...1,311,677 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 IAGP 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 chr 1:2,391,841...2,405,436
Ensembl chr 1:2,391,775...2,405,442 		JBrowse link
G RNF223 ring finger protein 223 IAGP 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 chr 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 IAGP 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 chr 1:923,923...944,574
Ensembl chr 1:923,923...944,575 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta IAGP 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 chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029 		JBrowse link
G SDF4 stromal cell derived factor 4 IAGP 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 chr 1:1,216,931...1,232,001
Ensembl chr 1:1,216,931...1,232,031 		JBrowse link
G SKI SKI proto-oncogene IAGP 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 chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC35E2A solute carrier family 35 member E2A (pseudogene) IAGP 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 chr 1:1,727,385...1,746,070
Ensembl chr 1:1,734,690...1,739,557 		JBrowse link
G SLC35E2B solute carrier family 35 member E2B IAGP 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 chr 1:1,661,478...1,692,795
Ensembl chr 1:1,659,529...1,692,795 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) IAGP 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 chr 1:3,772,749...3,775,956
Ensembl chr 1:3,772,749...3,775,982 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase IAGP 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 chr 1:1,541,673...1,574,863
Ensembl chr 1:1,541,673...1,574,863 		JBrowse link
G TAS1R3 taste 1 receptor member 3 IAGP 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 chr 1:1,331,280...1,335,314
Ensembl chr 1:1,331,280...1,335,314 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP 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 chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TMEM52 transmembrane protein 52 IAGP 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 chr 1:1,917,591...1,919,279
Ensembl chr 1:1,917,590...1,919,279 		JBrowse link
G TMEM88B transmembrane protein 88B IAGP 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 chr 1:1,425,871...1,430,255
Ensembl chr 1:1,425,871...1,430,255 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 IAGP 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 chr 1:2,554,234...2,563,829
Ensembl chr 1:2,555,639...2,565,382 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IAGP 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 chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP 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 chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
G TP73 tumor protein p73 IAGP 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 chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like IAGP 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 chr 1:3,625,015...3,630,127
Ensembl chr 1:3,625,015...3,630,127 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 IAGP 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 chr 1:2,636,986...2,801,693
Ensembl chr 1:2,636,986...2,801,693 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 IAGP 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 chr 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 IAGP 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 chr 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,864 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP 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 chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 IAGP 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 chr 1:3,630,770...3,650,103
Ensembl chr 1:3,630,767...3,652,761 		JBrowse link
Infantile Hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile hypercalcemia		 CTD
ClinVar		 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercalcemia, infantile		 CTD
ClinVar		 PMID:24033266 PMID:25741868 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
intestinal hypomagnesemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC128092252 uncharacterized LOC128092252 IAGP ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chr15:50,648,802...50,686,717 JBrowse link
G TRPM6 transient receptor potential cation channel subfamily M member 6 IAGP
EXP		 ClinVar Annotator: match by term: Intestinal hypomagnesemia 1
ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 9:74,722,495...74,887,921
Ensembl chr 9:74,722,495...74,888,094 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 IAGP ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797 		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 IAGP
EXP		 ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G TBCE tubulin folding cofactor E EXP CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
Keutel Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861465 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:15033676-15034875 IAGP ClinVar Annotator: match by term: Keutel syndrome ClinVar NCBI chr12:14,880,742...14,881,941 JBrowse link
G MGP matrix Gla protein IAGP
EXP		 DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human)
ClinVar Annotator: match by term: Keutel syndrome
ClinVar Annotator: match by term: Keutel syndrome | ClinVar Annotator: match by term: Pulmonic stenosis brachytelephalangism and calcification of cartilages
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:25741914 More... RGD:1600783 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		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 IAGP ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716 		JBrowse link
G LOC130060223 ATAC-STARR-seq lymphoblastoid active region 11672 IAGP ClinVar Annotator: match by term: LABRUNE SYNDROME
ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts		 ClinVar PMID:27571260 NCBI chr17:8,173,605...8,173,784 JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP
EXP		 ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 More... NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
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 chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		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 IAGP
EXP		 ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9734595 More... NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G LOC126863258 BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696 IAGP ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis ClinVar PMID:9062355 PMID:11136179 PMID:15719255 PMID:15895257 PMID:16822791 More... NCBI chr  X:50,089,840...50,091,039 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 IAGP ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy ClinVar PMID:9536098 PMID:15940697 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		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 IAGP
EXP		 ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G CRIPTO3 cripto, EGF-CFC family member 3 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,520,896...110,523,021
Ensembl chr  X:110,520,896...110,523,021 		JBrowse link
G GNG5B G protein subunit gamma 5B IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,346,454...110,346,973
Ensembl chr  X:110,346,103...110,440,372 		JBrowse link
G LOC130068552 ATAC-STARR-seq lymphoblastoid active region 29850 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,310,861...110,310,910 JBrowse link
G LOC130068553 ATAC-STARR-seq lymphoblastoid active region 29851 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,310,921...110,310,970 JBrowse link
G LOC130068554 ATAC-STARR-seq lymphoblastoid silent region 20939 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,315,646...110,315,745 JBrowse link
G LOC130068555 ATAC-STARR-seq lymphoblastoid silent region 20940 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
ClinVar Annotator: match by term: AMMECR1-related condition		 ClinVar PMID:25741868 NCBI chr  X:110,317,798...110,317,857 JBrowse link
G LOC130068556 ATAC-STARR-seq lymphoblastoid active region 29853 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,341,445...110,341,594 JBrowse link
G LOC130068557 ATAC-STARR-seq lymphoblastoid active region 29854 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,341,605...110,341,664 JBrowse link
G LOC130068558 ATAC-STARR-seq lymphoblastoid active region 29855 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,408,028...110,408,077 JBrowse link
G RTL9 retrotransposon Gag like 9 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,358,848...110,456,334
Ensembl chr  X:110,358,848...110,456,334 		JBrowse link
G TMEM164 transmembrane protein 164 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:110,002,369...110,184,251
Ensembl chr  X:110,002,631...110,182,734 		JBrowse link
nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate aminotransferase IAGP ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:8101040 PMID:9136629 PMID:9192270 PMID:10541294 PMID:10960483 More... NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:9916796 PMID:12414817 PMID:16199547 PMID:16611712 PMID:16769747 More... NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G BRD4 bromodomain containing 4 ISS MouseDO NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G CLDN16 claudin 16 IAGP ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:10390358 PMID:25741868 PMID:28893421 NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138 		JBrowse link
G CLDN19 claudin 19 IAGP ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 PMID:28893421 PMID:33025205 PMID:34805638 NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase IAGP ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:9536098 PMID:10484776 PMID:11030416 PMID:12185464 PMID:14635115 More... NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked EXP CTD Direct Evidence: marker/mechanism CTD PMID:9430241 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISS MouseDO NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:3017235 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PTH parathyroid hormone ISO RGD PMID:23344571 RGD:7242573 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:8640224 PMID:9585600 PMID:17998760 PMID:18391953 PMID:19096086 More... NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
G SLC26A1 solute carrier family 26 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20160351 NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO
IAGP		 associated with Hypercalciuria
ClinVar Annotator: match by term: Nephrocalcinosis		 ClinVar
RGD		 PMID:16199547 PMID:16688119 PMID:25741868 PMID:26047794 PMID:28492532 More... RGD:7242938 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 IAGP ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:18947684 PMID:24610330 PMID:25109415 PMID:25741868 PMID:25964309 More... NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:35830857 NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564 		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 IAGP
EXP		 ClinVar Annotator: match by term: Normophosphatemic familial tumoral calcinosis
ClinVar Annotator: match by term: CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA | ClinVar Annotator: match by term: Normophosphatemic familial tumoral calcinosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16960814 PMID:18094730 PMID:25741868 PMID:28346228 PMID:28492532 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		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 chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G MEPE matrix extracellular phosphoglycoprotein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr 4:87,821,398...87,846,792
Ensembl chr 4:87,821,398...87,846,814 		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 IAGP
EXP		 ClinVar Annotator: match by term: Primrose syndrome
ClinVar Annotator: match by term: Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes | ClinVar Annotator: match by term: Primrose syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:28327206 More... NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZBTB20-AS1 ZBTB20 antisense RNA 1 IAGP ClinVar Annotator: match by term: Primrose syndrome ClinVar PMID:25741868 NCBI chr 3:114,351,811...114,388,978
Ensembl chr 3:114,351,771...114,388,978 		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 IAGP
EXP		 ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868 PMID:28492532 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		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 IAGP ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 ClinVar
OMIM		 PMID:12833411 PMID:25741868 PMID:27325888 PMID:31940699 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,150,118...18,177,397 		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 IAGP ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31836668 PMID:32092142 NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203 		JBrowse link
pseudohypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP
EXP
ISS
IDA		 DNA:deletions:exon
ClinVar Annotator: match by term: Pseudohypoparathyroidism
CTD Direct Evidence: marker/mechanism
OMIM:612462		 ClinVar
CTD
MouseDO
RGD		 PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8388883 More... RGD:11568042, RGD:11568048, RGD:11568047 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 ISS OMIM:603233 | OMIM:612462 MouseDO NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,918...58,850,903 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ClinVar Annotator: match by term: Pseudohypoparathyroidism ClinVar PMID:25741868 PMID:35846276 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
pseudohypoparathyroidism type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IDA
IAGP
IEP		 DNA:hypomethylation:exon, promoter
ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB
ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B
DNA:deletion, hypomethylation
DNA:mutations:exon, intron:multiple		 ClinVar
OMIM
RGD		 PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 More... RGD:11568043, RGD:11568050, RGD:11568048, RGD:11568044 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 IAGP ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B
ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B		 ClinVar
OMIM		 PMID:15592469 PMID:25741868 NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,918...58,850,903 		JBrowse link
G STX16 syntaxin 16 IAGP ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B ClinVar
OMIM		 PMID:14561710 PMID:15579741 PMID:15800843 PMID:25741868 PMID:28492532 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526 		JBrowse link
G STX16-NPEPL1 STX16-NPEPL1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B ClinVar PMID:14561710 PMID:15579741 PMID:15800843 PMID:25741868 PMID:28492532 NCBI chr20:58,651,253...58,715,844
Ensembl chr20:58,651,434...58,715,410 		JBrowse link
Pseudohypoparathyroidism Type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: PHP IC
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 chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 IAGP ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C ClinVar PMID:25741868 NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,918...58,850,903 		JBrowse link
pseudopseudohypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP
ISS
EXP		 ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism
ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance
ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance | ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism
OMIM:612463
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:219790 PMID:1505964 PMID:2122458 PMID:7853365 PMID:8702665 More... NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 IAGP ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance ClinVar PMID:25741868 NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,918...58,850,903 		JBrowse link
G LOC130066270 ATAC-STARR-seq lymphoblastoid active region 18180 IAGP ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism ClinVar PMID:25594858 PMID:25741868 NCBI chr20:58,907,643...58,908,122 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 IAGP
EXP		 ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11287838 PMID:16960801 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748 		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 IAGP
EXP		 DNA:deletion, snps, missense mutations:multiple (human)
ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... RGD:11560486 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		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 IAGP ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications ClinVar PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 More... NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092 		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 IAGP
EXP		 ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 PMID:29979980 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092 		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 IAGP ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 OMIM
ClinVar		 PMID:25741868 PMID:31355908 NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037 		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 IAGP ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement ClinVar NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138 		JBrowse link
G CLDN19 claudin 19 IAGP
EXP		 ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254 		JBrowse link
G EGF epidermal growth factor IAGP ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH parathyroid hormone IEP associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		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 chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP
ISS
EXP
ISO		 vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:16494812 PMID:9486994 PMID:11416220 RGD:1600874, RGD:734871 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISS OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G PTH parathyroid hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G PTH1R parathyroid hormone 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G VDR vitamin D receptor IAGP
ISS
EXP		 VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:1338926 PMID:17451081 PMID:22466564 PMID:2849209 RGD:1624354 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: SHORT syndrome
OMIM:269880
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:9536098 More... NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		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 IAGP ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 More... NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		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 IAGP ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar		 PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,208 		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 12542670 RGD PMID:12542670 RGD:2313247 NCBI chr14:64,465,499...64,474,503
Ensembl chr14:64,465,499...64,474,503 		JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222 		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 IAGP
EXP		 ClinVar Annotator: match by term: Tropical calcific pancreatitis
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:10691414 PMID:10835640 PMID:11265669 PMID:11950815 PMID:12011155 More... NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671 		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 IEP
ISO		 associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human)
associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse)		 RGD PMID:21643645 PMID:22305260 PMID:21099228 RGD:7243940, RGD:7245562, RGD:7243959 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G CD40 CD40 molecule IEP associated with Coronary Artery Disease RGD PMID:16494885 RGD:7248436 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand IEP associated with Coronary Artery Disease RGD PMID:16494885 RGD:7248436 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: therapeutic CTD PMID:23223575 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO associated with obesity RGD PMID:24370590 RGD:401827910 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G KL klotho ISO RGD PMID:21115613 RGD:10403077 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G MGP matrix Gla protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21705322 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity IAGP DNA:transition:cds:g.677C>T (human) RGD PMID:21394321 RGD:6893475 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G PLA2G7 phospholipase A2 group VII IAGP DNA:SNPs:cds, intron:multiple RGD PMID:22340269 RGD:6482770 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PTH parathyroid hormone disease_progression ISO associated with Kidney Failure, Chronic
protein:increased expression:serum (rat)		 RGD PMID:23486515 PMID:22634235 RGD:7242416, RGD:7242900 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
vitamin D-dependent rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G VDR vitamin D receptor IAGP ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		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 CYP27B1 cytochrome P450 family 27 subfamily B member 1 treatment IAGP
EXP
ISO		 ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A
ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 More... RGD:32716373 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:24033266 More... NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G MILR1 mast cell immunoglobulin like receptor 1 IAGP ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269 NCBI chr17:64,449,115...64,497,356
Ensembl chr17:64,449,037...64,468,643 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		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 CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP
EXP		 ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B		 OMIM
ClinVar
CTD		 PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G LOC130005371 ATAC-STARR-seq lymphoblastoid silent region 3174 IAGP ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B ClinVar PMID:25741868 PMID:28492532 NCBI chr11:14,891,739...14,891,978 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 LOC130007784 ATAC-STARR-seq lymphoblastoid silent region 4404 IAGP ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ClinVar NCBI chr12:47,904,987...47,905,116 JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		JBrowse link
G PRSS1 serine protease 1 IAGP ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072 		JBrowse link
G TRB T cell receptor beta locus IAGP ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,299,011...142,813,287 JBrowse link
G VDR vitamin D receptor treatment ISO
IAGP
EXP
IMP		 ClinVar Annotator: match by term: PDDR 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
ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D
compared to untreated Vdr mutant
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction:		 ClinVar
CTD
OMIM
RGD		 PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:8158074, RGD:32716373, RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
VITAMIN D-DEPENDENT RICKETS, TYPE 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP3A4 cytochrome P450 family 3 subfamily A member 4 IAGP ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3 OMIM
ClinVar		 PMID:29461981 NCBI chr 7:99,756,967...99,784,184
Ensembl chr 7:99,756,960...99,784,248 		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 chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G CBLL2 Cbl proto-oncogene like 2 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:19513579 PMID:25741868 NCBI chr  X:22,272,913...22,274,461
Ensembl chr  X:22,272,913...22,274,461 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IEP mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G LOC126863223 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22383141-22384340 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:19513579 PMID:25741868 NCBI chr  X:22,365,024...22,366,223 JBrowse link
G LOC126863224 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22417737-22418936 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:19513579 PMID:25741868 NCBI chr  X:22,399,620...22,400,819 JBrowse link
G LOC126863225 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22450970-22452169 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:19513579 PMID:25741868 NCBI chr  X:22,432,853...22,434,052 JBrowse link
G LOC126863226 P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:22544316-22545515 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:19513579 PMID:25741868 NCBI chr  X:22,526,199...22,527,398 JBrowse link
G LOC130068043 ATAC-STARR-seq lymphoblastoid active region 29488 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar NCBI chr  X:22,192,578...22,192,837 JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP
ISS
ISO		 DNA:deletion,mutations:exon,splice junction:
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition
OMIM:307800
ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:		 ClinVar
MouseDO
OMIM
RGD		 PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... RGD:11556246, RGD:7207229, RGD:11556248, RGD:11556247 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHEX-AS1 PHEX antisense RNA 1 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition		 ClinVar PMID:9097956 PMID:9106524 PMID:9536098 PMID:9768674 PMID:10737991 More... NCBI chr  X:22,162,732...22,172,983
Ensembl chr  X:22,162,733...22,172,983 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
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		 ClinVar PMID:188828 PMID:2589938 PMID:9097956 PMID:9106524 PMID:9199930 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		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 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 More... NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G LOC126863258 BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive ClinVar PMID:11136179 PMID:15719255 PMID:15895257 PMID:16822791 PMID:18038239 More... NCBI chr  X:50,089,840...50,091,039 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10568
      disease of metabolism 10568
        mineral metabolism disease 1494
          calcium metabolism disease 1030
            Hypercalciuria + 14
            Hypocalcemia + 15
            Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
            Pathologic Decalcification + 0
            calcinosis + 944
            hypercalcemia + 53
            pseudohypoparathyroidism + 7
            renal hypomagnesemia 5 with ocular involvement 3
            rickets + 38
Path 2
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10568
      disease of metabolism 10568
        acquired metabolic disease 3463
          mineral metabolism disease 1494
            calcium metabolism disease 1030
              Hypercalciuria + 14
              Hypocalcemia + 15
              Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
              Pathologic Decalcification + 0
              calcinosis + 944
              hypercalcemia + 53
              pseudohypoparathyroidism + 7
              renal hypomagnesemia 5 with ocular involvement 3
              rickets + 38
paths to the root