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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:mineral metabolism disease
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Accession:DOID:0050032 term browser browse the term
Definition:An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO)
Synonyms:primary_id: RDO:9003951
 xref: EFO:0009556


show annotations for term's descendants           Sort by:
aceruloplasminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380 		JBrowse link
G ANKUB1 ankyrin repeat and ubiquitin domain containing 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:146,780,507...146,813,048
Ensembl chr 3:154,357,367...154,389,072 		JBrowse link
G COMMD2 COMM domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:146,757,967...146,772,046
Ensembl chr 3:154,332,849...154,348,757 		JBrowse link
G CP ceruloplasmin ISO ClinVar Annotator: match by term: CP-related condition | ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia OMIM
ClinVar		 PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 PMID:7539672 More... NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544 		JBrowse link
G CPA3 carboxypeptidase A3 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:145,889,140...145,921,462
Ensembl chr 3:153,468,071...153,500,333 		JBrowse link
G CPB1 carboxypeptidase B1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:145,815,651...145,884,498
Ensembl chr 3:153,394,339...153,463,366 		JBrowse link
G GYG1 glycogenin 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:146,015,629...146,055,412
Ensembl chr 3:153,595,624...153,632,740 		JBrowse link
G HLTF helicase like transcription factor ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:146,054,371...146,111,150
Ensembl chr 3:153,632,319...153,688,951 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:12351628 PMID:16629161 PMID:18414213 PMID:19095659 PMID:24033266 More... NCBI chr 3:146,147,140...146,190,793
Ensembl chr 3:153,725,008...153,769,060 		JBrowse link
G RNF13 ring finger protein 13 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:146,828,951...146,983,613
Ensembl chr 3:154,408,822...154,563,298 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chr2B:76,867,908...76,888,403
Ensembl chr2B:194,787,575...194,810,993 		JBrowse link
G TM4SF1 transmembrane 4 L six family member 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:146,388,667...146,397,424
Ensembl chr 3:153,962,619...153,975,177 		JBrowse link
G TM4SF18 transmembrane 4 L six family member 18 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:146,338,782...146,353,709
Ensembl chr 3:153,915,585...153,930,910 		JBrowse link
G TM4SF4 transmembrane 4 L six family member 4 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:146,493,332...146,522,269
Ensembl chr 3:154,070,603...154,099,896 		JBrowse link
G WWTR1 WW domain containing transcription regulator 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:146,536,564...146,678,847
Ensembl chr 3:154,114,034...154,254,490 		JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... NCBI chr 1:129,937,993...129,983,747 JBrowse link
G ATRIP ATR interacting protein ISO 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 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr2B:49,560,620...49,612,086
Ensembl chr2B:166,928,994...166,980,170 		JBrowse link
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr11:61,071,118...61,078,667
Ensembl chr11:64,404,572...64,412,667 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chr19:12,363,721...12,375,316
Ensembl chr19:13,112,242...13,119,514 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chr11:61,076,731...61,079,994
Ensembl chr11:64,411,804...64,413,819 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr20:33,224,200...33,282,018
Ensembl chr20:34,341,367...34,398,314 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:33,204,182...33,221,160
Ensembl chr20:34,321,315...34,342,664 		JBrowse link
G TREX1 three prime repair exonuclease 1 ISO 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 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331 		JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMIGO3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,648,967...49,652,285
Ensembl chr 3:50,885,925...50,887,439 		JBrowse link
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968 		JBrowse link
G APEH acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,606,294...49,615,896
Ensembl chr 3:50,843,220...50,853,516 		JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,844,161...48,910,183
Ensembl chr 3:49,926,453...49,991,924 		JBrowse link
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351 		JBrowse link
G BSN bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,483,652...49,603,928
Ensembl chr 3:50,790,552...50,841,178 		JBrowse link
G C2H3orf62 chromosome 2 C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,191,640...49,199,806
Ensembl chr 3:50,273,460...50,279,995 		JBrowse link
G CAMKV CaM kinase like vesicle associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,789,838...49,801,795
Ensembl chr 3:51,026,111...51,038,064 		JBrowse link
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,085,870...49,089,723 JBrowse link
G CDHR4 cadherin related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,722,563...49,734,040
Ensembl chr 3:50,958,548...50,967,792 		JBrowse link
G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,557,976...48,586,051
Ensembl chr 3:49,639,942...49,667,335 		JBrowse link
G CIMIP7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,100,962...49,115,215
Ensembl chr 3:50,180,907...50,195,215 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,940,126...48,945,717
Ensembl chr 3:50,021,669...50,024,522 		JBrowse link
G DCLRE1C DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 NCBI chr10:14,901,335...14,956,947
Ensembl chr10:15,236,558...15,269,043 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969 		JBrowse link
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988 		JBrowse link
G GNAT1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,119,267...50,126,131
Ensembl chr 3:51,354,472...51,360,568 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,228,491...50,238,798
Ensembl chr 3:51,463,239...51,467,286 		JBrowse link
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,221,428...50,228,062
Ensembl chr 3:51,456,173...51,462,815 		JBrowse link
G IFRD2 interferon related developmental regulator 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,216,335...50,221,186
Ensembl chr 3:51,451,086...51,455,934 		JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,122,120...49,181,228
Ensembl chr 3:50,239,250...50,259,890 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,948,965...48,954,276
Ensembl chr 3:50,030,303...50,035,676 		JBrowse link
G INKA1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,734,616...49,736,838
Ensembl chr 3:50,971,394...50,972,993 		JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,656,438...49,718,423
Ensembl chr 3:50,892,279...50,954,149 		JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,608,902...48,638,185
Ensembl chr 3:49,690,486...49,719,798 		JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,094,203...49,099,818
Ensembl chr 3:50,174,393...50,179,759 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074 		JBrowse link
G LOC100967331 ubiquitin carboxyl-terminal hydrolase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,199,328...49,263,861
Ensembl chr 3:50,279,642...50,343,903 		JBrowse link
G LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,520,870...48,531,947
Ensembl chr 3:49,602,770...49,613,717 		JBrowse link
G LOC103786080 ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,843,126...48,845,424
Ensembl chr 3:49,925,886...49,926,758 		JBrowse link
G LSMEM2 leucine rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,206,431...50,216,716
Ensembl chr 3:51,441,739...51,451,467 		JBrowse link
G MON1A MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,840,824...49,862,101
Ensembl chr 3:51,077,398...51,099,498 		JBrowse link
G MST1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,616,339...49,621,749 JBrowse link
G MST1R macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,818,538...49,835,713
Ensembl chr 3:51,054,795...51,072,401 		JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,225,000...50,228,015
Ensembl chr 3:51,459,748...51,462,764 		JBrowse link
G NCKIPSD NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,586,112...48,606,811
Ensembl chr 3:49,676,282...49,688,548 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,945,667...48,947,933
Ensembl chr 3:50,026,989...50,029,260 		JBrowse link
G NICN1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,350,753...49,357,161
Ensembl chr 3:50,595,232...50,601,612 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,914,547...48,931,723
Ensembl chr 3:49,993,219...50,013,272 		JBrowse link
G PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,439,542...48,479,501
Ensembl chr 3:49,521,550...49,560,711 		JBrowse link
G PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,665,421...48,774,111
Ensembl chr 3:49,747,611...49,854,382 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112 		JBrowse link
G QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,954,345...49,018,745
Ensembl chr 3:50,035,676...50,097,596 		JBrowse link
G RBM5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,017,199...50,047,248
Ensembl chr 3:51,251,911...51,282,338 		JBrowse link
G RBM6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,872,120...50,007,835
Ensembl chr 3:51,135,198...51,243,169 		JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909 		JBrowse link
G RNF123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,621,909...49,653,668
Ensembl chr 3:50,865,022...50,889,509 		JBrowse link
G SEMA3B semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,196,147...50,205,744
Ensembl chr 3:51,430,287...51,439,886 		JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,083,733...50,117,518
Ensembl chr 3:51,318,089...51,351,958 		JBrowse link
G SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,389,924...48,426,064
Ensembl chr 3:49,471,604...49,508,840 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,782,960...48,824,616
Ensembl chr 3:49,863,259...49,901,839 		JBrowse link
G SLC26A6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,547,277...48,557,099
Ensembl chr 3:49,629,237...49,639,039 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,133,631...50,149,394
Ensembl chr 3:51,367,939...51,383,657 		JBrowse link
G TCTA T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,340,010...49,344,288 JBrowse link
G TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,542,058...48,543,674
Ensembl chr 3:49,624,215...49,625,444 		JBrowse link
G TRAIP TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,760,528...49,789,637
Ensembl chr 3:50,996,647...51,025,241 		JBrowse link
G TREX1 three prime repair exonuclease 1 susceptibility ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant OMIM
ClinVar		 PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331 		JBrowse link
G UBA7 ubiquitin like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,737,015...49,745,783
Ensembl chr 3:50,973,211...50,981,997 		JBrowse link
G UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,484,628...48,485,179 JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,032,373...49,045,238
Ensembl chr 3:50,100,216...50,125,112 		JBrowse link
G WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,931,669...48,940,591
Ensembl chr 3:50,013,708...50,021,367 		JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909 		JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN3 actinin alpha 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,905,722...61,922,227
Ensembl chr11:65,228,713...65,245,429 		JBrowse link
G ACY3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,003,244...63,011,737
Ensembl chr11:66,314,527...66,322,759 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898 		JBrowse link
G ALDH3B2 aldehyde dehydrogenase 3 family member B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,022,475...63,042,873
Ensembl chr11:66,334,197...66,345,987 		JBrowse link
G ANKRD13D ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,647,609...62,660,766
Ensembl chr11:65,959,474...65,974,345 		JBrowse link
G ANO1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,064,415...65,287,160
Ensembl chr11:68,473,555...68,576,451 		JBrowse link
G AP5B1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:61,132,012...61,139,078 JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678 		JBrowse link
G BANF1 barrier to autointegration nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,366,480...61,368,547
Ensembl chr11:64,693,447...64,695,509 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,868,257...61,892,473
Ensembl chr11:65,192,355...65,216,274 		JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,703,021...61,710,784
Ensembl chr11:65,028,407...65,036,163 		JBrowse link
G C9H11orf24 chromosome 9 C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,343,911...63,355,102
Ensembl chr11:66,651,896...66,662,867 		JBrowse link
G C9H11orf68 chromosome 9 C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,277,154...61,279,408 JBrowse link
G C9H11orf86 chromosome 9 C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,334,288...62,336,145
Ensembl chr11:65,655,645...65,657,492 		JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,877,978...62,882,653 JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,813,477...62,820,425
Ensembl chr11:66,121,992...66,128,758 		JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:60,545,837...60,576,631
Ensembl chr11:63,886,015...63,916,021 		JBrowse link
G CARNS1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,774,027...62,784,066
Ensembl chr11:66,085,594...66,097,970 		JBrowse link
G CATSPER1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,381,175...61,391,455
Ensembl chr11:64,707,912...64,717,689 		JBrowse link
G CCDC85B coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,250,913...61,251,926 JBrowse link
G CCDC87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,946,954...61,949,840 JBrowse link
G CCND1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CCS copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,949,928...61,963,519
Ensembl chr11:65,273,744...65,287,406 		JBrowse link
G CD248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,680,049...61,682,614
Ensembl chr11:65,005,716...65,008,346 		JBrowse link
G CDC42EP2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:60,679,582...60,686,763
Ensembl chr11:64,024,281...64,024,913 		JBrowse link
G CDK2AP2 cyclin dependent kinase 2 associated protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,865,554...62,867,756
Ensembl chr11:66,176,917...66,179,154 		JBrowse link
G CFL1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806 		JBrowse link
G CHKA choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,134,776...63,202,516
Ensembl chr11:66,444,406...66,510,221 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,722,611...62,734,279 JBrowse link
G CNIH2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,643,633...61,649,646
Ensembl chr11:64,969,447...64,975,156 		JBrowse link
G CORO1B coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,796,461...62,802,204
Ensembl chr11:66,108,924...66,113,175 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481 		JBrowse link
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,375,744...61,377,909
Ensembl chr11:64,703,412...64,704,762 		JBrowse link
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,922,361...61,927,520
Ensembl chr11:65,246,031...65,250,786 		JBrowse link
G CTSW cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,239,862...61,244,034
Ensembl chr11:64,569,587...64,573,534 		JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:60,698,580...60,717,800
Ensembl chr11:64,037,108...64,055,727 		JBrowse link
G DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,836,463...61,867,303
Ensembl chr11:65,161,892...65,191,398 		JBrowse link
G DRAP1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,279,681...61,281,881
Ensembl chr11:64,608,245...64,610,031 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:61,226,755...61,233,181
Ensembl chr11:64,555,877...64,561,950 		JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:60,935,156...60,951,756
Ensembl chr11:64,273,027...64,285,950 		JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,356,142...61,366,589
Ensembl chr11:64,689,797...64,693,534 		JBrowse link
G FADD Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,300,889...65,305,020 JBrowse link
G FAM89B family with sequence similarity 89 member B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:60,931,592...60,933,317 JBrowse link
G FGF19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:64,794,157...64,800,512
Ensembl chr11:68,085,306...68,090,028 		JBrowse link
G FGF3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:64,905,658...64,915,175
Ensembl chr11:68,197,962...68,207,042 		JBrowse link
G FGF4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:64,866,649...64,871,031 JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,244,175...61,248,805
Ensembl chr11:64,573,537...64,578,328 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304 		JBrowse link
G FRMD8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:60,750,470...60,777,690
Ensembl chr11:64,087,206...64,114,367 		JBrowse link
G GAL galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,770,758...63,777,421
Ensembl chr11:67,075,547...67,081,696 		JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,406,398...61,413,733 JBrowse link
G GPR152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,809,666...62,811,481
Ensembl chr11:66,120,889...66,122,301 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659 		JBrowse link
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chr11:61,071,118...61,078,667
Ensembl chr11:64,404,572...64,412,667 		JBrowse link
G KCNK7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:60,951,961...60,955,240
Ensembl chr11:64,286,502...64,289,662 		JBrowse link
G KDM2A lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,470,549...62,616,135
Ensembl chr11:65,793,464...65,930,498 		JBrowse link
G KMT5B lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,239,796...63,297,113
Ensembl chr11:66,549,230...66,581,475 		JBrowse link
G LOC100990116 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,434,702...61,633,334
Ensembl chr11:64,884,048...64,935,947
Ensembl chr11:64,884,048...64,935,947 		JBrowse link
G LOC100993681 aldehyde dehydrogenase family 3 member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,087,090...63,111,239
Ensembl chr11:66,404,184...66,419,759 		JBrowse link
G LRFN4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,214,340...62,217,742
Ensembl chr11:65,536,427...65,539,629 		JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802 		JBrowse link
G LTO1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:64,761,465...64,771,618
Ensembl chr11:68,040,388...68,062,509 		JBrowse link
G MAP3K11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:60,956,880...60,973,972
Ensembl chr11:64,291,635...64,307,737 		JBrowse link
G MRGPRD MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:64,069,508...64,070,765
Ensembl chr11:67,370,432...67,371,397 		JBrowse link
G MRGPRF MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:64,090,299...64,103,063
Ensembl chr11:67,391,018...67,403,746 		JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,793,509...61,796,539
Ensembl chr11:65,117,818...65,120,915 		JBrowse link
G MRPL21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr12:65,651,607...65,652,723
Ensembl chr11:67,282,341...67,294,289 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:61,220,699...61,226,747
Ensembl chr11:64,549,840...64,555,875 		JBrowse link
G MYEOV myeloma overexpressed ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:64,389,456...64,391,693
Ensembl chr11:67,686,713...67,687,750 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,112,536...63,118,600
Ensembl chr11:66,421,378...66,427,101 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,964,970...62,970,605
Ensembl chr11:66,276,638...66,282,320 		JBrowse link
G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,778,329...61,784,010
Ensembl chr11:65,103,097...65,108,825 		JBrowse link
G NUDT8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,988,580...62,990,780
Ensembl chr11:66,299,863...66,301,893 		JBrowse link
G OVOL1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:61,144,969...61,156,706
Ensembl chr11:64,478,549...64,488,647 		JBrowse link
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,205,644...62,317,917
Ensembl chr11:65,527,662...65,551,396 		JBrowse link
G PCNX3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:60,974,933...60,996,632
Ensembl chr11:64,310,292...64,330,943 		JBrowse link
G PELI3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,824,463...61,834,930
Ensembl chr11:65,148,441...65,159,211 		JBrowse link
G PITPNM1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,850,323...62,864,421
Ensembl chr11:66,161,828...66,174,677 		JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:60,626,555...60,670,716
Ensembl chr11:63,966,531...64,001,335 		JBrowse link
G POLD4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,709,988...62,712,038
Ensembl chr11:66,022,395...66,024,442 		JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,756,659...62,760,369
Ensembl chr11:66,068,007...66,071,611 		JBrowse link
G PPP6R3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,545,513...63,699,434
Ensembl chr11:66,925,634...67,004,292 		JBrowse link
G PTPRCAP protein tyrosine phosphatase receptor type C associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,793,934...62,796,321
Ensembl chr11:66,106,069...66,108,527 		JBrowse link
G RAB1B RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,634,017...61,642,945
Ensembl chr11:64,959,957...64,968,843 		JBrowse link
G RAD9A RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,675,480...62,756,886
Ensembl chr11:66,061,208...66,068,214 		JBrowse link
G RBM14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 Ensembl chr11:65,298,404...65,349,183 JBrowse link
G RBM4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,996,221...62,026,007
Ensembl chr11:65,298,404...65,349,183 		JBrowse link
G RBM4B RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,022,622...62,035,570
Ensembl chr11:65,345,796...65,358,473 		JBrowse link
G RCE1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,101,228...62,203,793
Ensembl chr11:65,427,937...65,522,087
Ensembl chr11:65,427,937...65,522,087 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		JBrowse link
G RHOD ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,418,466...62,433,453
Ensembl chr11:65,736,668...65,754,761 		JBrowse link
G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,697,751...61,702,501
Ensembl chr11:65,023,138...65,027,605 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr11:61,076,731...61,079,994
Ensembl chr11:64,411,804...64,413,819 		JBrowse link
G RPS6KB2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,786,866...62,793,826
Ensembl chr11:66,099,553...66,105,967 		JBrowse link
G SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,326,262...61,343,475
Ensembl chr11:64,654,470...64,670,720 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:60,884,136...60,897,790
Ensembl chr11:64,218,464...64,233,413 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772 		JBrowse link
G SIPA1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:60,997,292...61,010,155
Ensembl chr11:64,335,136...64,344,955 		JBrowse link
G SLC25A45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:60,736,975...60,747,380
Ensembl chr11:64,075,675...64,082,750 		JBrowse link
G SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,728,204...61,738,174
Ensembl chr11:65,054,041...65,063,540 		JBrowse link
G SNX32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:61,194,637...61,215,337
Ensembl chr11:64,524,219...64,543,249 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,042,617...62,086,634
Ensembl chr11:65,365,588...65,409,207 		JBrowse link
G SSH3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,661,752...62,670,869
Ensembl chr11:65,975,486...65,983,716 		JBrowse link
G SYT12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,383,485...62,412,451
Ensembl chr11:65,709,808...65,733,010 		JBrowse link
G TBC1D10C TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,762,075...62,768,569
Ensembl chr11:66,073,830...66,080,019 		JBrowse link
G TBX10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,991,902...62,996,794
Ensembl chr11:66,303,253...66,311,529 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327 		JBrowse link
G TESMIN testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,793,626...63,837,709
Ensembl chr11:67,097,731...67,141,863 		JBrowse link
G TIGD3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:60,718,678...60,722,729
Ensembl chr11:64,058,807...64,060,222 		JBrowse link
G TMEM134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:62,822,716...62,827,660
Ensembl chr11:66,133,604...66,138,678 		JBrowse link
G TMEM151A transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,657,453...61,662,262
Ensembl chr11:64,983,084...64,987,816 		JBrowse link
G TOP6BL TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 Ensembl chr11:65,427,937...65,522,087 JBrowse link
G TPCN2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:64,139,512...64,227,913
Ensembl chr11:67,438,635...67,478,106 		JBrowse link
G TSGA10IP testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,305,860...61,326,214
Ensembl chr11:64,637,896...64,653,085 		JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:63,073,076...63,086,078
Ensembl chr11:66,382,059...66,394,541 		JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,650,020...61,656,674
Ensembl chr11:64,975,525...64,980,110 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:61,887,816...61,905,130
Ensembl chr11:65,209,614...65,228,434 		JBrowse link
G ZNRD2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:60,928,869...60,930,875
Ensembl chr11:64,264,234...64,266,970 		JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEST2 bestrophin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,314,252...12,321,051
Ensembl chr19:13,060,133...13,066,033 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729 		JBrowse link
G CALR calreticulin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416 		JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,529,830...12,536,052 JBrowse link
G DHPS deoxyhypusine synthase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,237,882...12,243,903
Ensembl chr19:12,983,106...12,989,193 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,436,898...12,443,530
Ensembl chr19:13,180,073...13,185,650 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,484,607...12,496,160
Ensembl chr19:13,227,193...13,238,244 		JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,250,790...12,259,199
Ensembl chr19:12,996,061...13,003,564 		JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,516,581...12,519,673
Ensembl chr19:13,259,047...13,262,044 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223 		JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,299,706...12,310,923
Ensembl chr19:13,045,570...13,055,908 		JBrowse link
G HOOK2 hook microtubule tethering protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,325,578...12,340,754
Ensembl chr19:13,070,289...13,082,612 		JBrowse link
G IER2 immediate early response 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,714,804...12,718,213
Ensembl chr19:13,452,239...13,452,910 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974 		JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425 		JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,660,548...12,664,513
Ensembl chr19:13,407,596...13,409,309 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,395,531...12,436,646
Ensembl chr19:13,138,382...13,179,569 		JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,679,837...12,704,470
Ensembl chr19:13,412,462...13,439,679 		JBrowse link
G NFIX nuclear factor I X ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,557,020...12,660,316
Ensembl chr19:13,327,690...13,402,406 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369 		JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,508,232...12,516,068
Ensembl chr19:13,250,718...13,258,482 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition OMIM
ClinVar		 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 More... NCBI chr19:12,363,721...12,375,316
Ensembl chr19:13,112,242...13,119,514 		JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,387,165...12,397,157
Ensembl chr19:13,129,659...13,139,842 		JBrowse link
G STX10 syntaxin 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,707,389...12,713,681
Ensembl chr19:13,445,784...13,449,422 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,459,646...12,481,833
Ensembl chr19:13,203,595...13,224,052 		JBrowse link
G TNPO2 transportin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,261,026...12,286,571
Ensembl chr19:13,006,110...13,032,317 		JBrowse link
G TRIR telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,293,236...12,297,338
Ensembl chr19:13,038,837...13,046,866 		JBrowse link
G TRMT1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,666,426...12,679,454 JBrowse link
G WDR83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,231,876...12,237,997
Ensembl chr19:12,976,952...12,983,221 		JBrowse link
G WDR83OS WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,230,204...12,231,881
Ensembl chr19:12,975,314...12,976,896 		JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLCAP BLCAP apoptosis inducing factor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:33,839,246...33,849,833
Ensembl chr20:34,954,666...34,954,929 		JBrowse link
G CTNNBL1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:34,015,883...34,192,958
Ensembl chr20:35,129,836...35,306,836 		JBrowse link
G GHRH growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240 		JBrowse link
G MANBAL mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:33,611,280...33,638,990
Ensembl chr20:34,726,227...34,753,593 		JBrowse link
G MROH8 maestro heat like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:33,424,051...33,501,927
Ensembl chr20:34,539,392...34,617,182 		JBrowse link
G NNAT neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:33,842,071...33,845,575
Ensembl chr20:34,955,234...34,959,493 		JBrowse link
G RBL1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:33,324,663...33,419,891
Ensembl chr20:34,443,203...34,534,109 		JBrowse link
G RPN2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:33,501,275...33,563,523
Ensembl chr20:34,616,651...34,678,127 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr20:33,224,200...33,282,018
Ensembl chr20:34,341,367...34,398,314 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:33,204,182...33,221,160
Ensembl chr20:34,321,315...34,342,664 		JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar		 PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chr 1:129,937,993...129,983,747 JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chr2B:49,560,620...49,612,086
Ensembl chr2B:166,928,994...166,980,170 		JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LSM11 LSM11, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar		 PMID:33230297 NCBI chr 5:153,129,385...153,182,170 JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10H12orf57 chromosome 10 C12orf57 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr12:7,073,251...7,075,408
Ensembl chr12:6,978,576...6,990,580 		JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20A FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr17:62,474,317...62,537,800
Ensembl chr17:67,864,331...67,927,128 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO 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 chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943 		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 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641 		JBrowse link
G AGT angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644 		JBrowse link
G GRP gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:52,614,169...52,626,427
Ensembl chr18:55,942,263...55,953,188 		JBrowse link
G GSN gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831 		JBrowse link
G SOD1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr21:18,029,831...18,037,526 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 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		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 chr16:23,871,756...23,876,599
Ensembl chr16:31,459,560...31,464,897 		JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 More... NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644 		JBrowse link
G GATA5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28387797 PMID:28492532 PMID:30675029 Ensembl chr20:60,148,359...60,158,886 JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition OMIM
ClinVar		 PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More... NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr15:45,648,709...45,728,821
Ensembl chr15:63,923,379...64,001,154 		JBrowse link
G TBX20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More... NCBI chr 7:35,855,969...35,878,533 JBrowse link
arterial calcification of infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Idiopathic infantile arterial calcification ClinVar PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644 		JBrowse link
autosomal dominant hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMELY amelogenin Y-linked ISO RGD PMID:15721149 RGD:1599092 NCBI chr  X:3,898,819...3,930,686
Ensembl chr  X:11,214,103...11,221,443 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO RGD PMID:2106357 RGD:6483581 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432 		JBrowse link
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypocalcemia ClinVar PMID:8675635 PMID:8878438 PMID:9039332 PMID:11136551 PMID:11701698 More... NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822 		JBrowse link
G PTH parathyroid hormone ISO protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802 		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 susceptibility ISO ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL OMIM
ClinVar		 PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More... NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
autosomal dominant hypocalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 | ClinVar Annotator: match by term: GNA11-related condition OMIM
ClinVar		 PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 More... NCBI chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124 		JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome ClinVar PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT OMIM
ClinVar		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... NCBI chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:14,663,847...14,859,294
Ensembl chr  X:22,017,681...22,232,501 		JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: DMP1-related condition | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:79,943,709...79,957,430
Ensembl chr 4:90,675,812...90,682,314 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644 		JBrowse link
basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYORG myogenesis regulating glycosidase (putative) ISO OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 9:34,205,177...34,213,351
Ensembl chr 9:35,015,847...35,017,991 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456 		JBrowse link
Calcification of Aortic Valve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959 		JBrowse link
G MEIS2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 RGD:13207434 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G PTH parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421 		JBrowse link
G SLC20A1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr2A:89,394,161...89,412,141
Ensembl chr2A:113,657,901...113,679,575 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
calcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHSG alpha 2-HS glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16177000 NCBI chr 3:183,644,223...183,652,620
Ensembl chr 3:192,110,770...192,119,915 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO protein:increased expression:dermis:
associated with hypertension;protein:undercarboxylated:serum
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18422975 PMID:20197689 PMID:21335463 RGD:6483566 RGD:9068449 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432 		JBrowse link
G BMP2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 PMID:31843813 NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G C6 complement C6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 5:69,174,411...69,245,801
Ensembl chr 5:74,216,244...74,288,588 		JBrowse link
G CASP3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185 		JBrowse link
G CCL15 C-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr17:20,793,702...20,809,383
Ensembl chr17:21,089,791...21,095,047 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 PMID:21335463 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr21:31,720,358...31,834,470 JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
G CTC1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537 		JBrowse link
G CTNNB1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12148126 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO associated with Breast Neoplasms;protein:increased expression:breast RGD PMID:18256879 RGD:2289923 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		JBrowse link
G FCGR1A Fc gamma receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:125,127,073...125,136,911
Ensembl chr 1:128,805,484...128,814,220 		JBrowse link
G FGF23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231 		JBrowse link
G GPX1 glutathione peroxidase 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) RGD PMID:17825092 RGD:2306608 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G IL18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G ITGB1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031 		JBrowse link
G ITGB2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963 		JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626 		JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458 		JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798 		JBrowse link
G LSP1 lymphocyte specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr11:1,889,625...1,931,192
Ensembl chr11:1,921,905...1,963,192 		JBrowse link
G LY86 lymphocyte antigen 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 6:6,429,846...6,496,664
Ensembl chr 6:6,610,431...6,676,696 		JBrowse link
G MGP matrix Gla protein ISO RGD PMID:15045141 RGD:1582501 NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22110751 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr 3:116,901,579...116,940,366
Ensembl chr 3:123,815,135...123,853,129 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830 		JBrowse link
G PYCARD PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr16:23,764,386...23,765,732
Ensembl chr16:31,571,363...31,573,828 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12803500 NCBI chr11:58,328,476...58,336,887
Ensembl chr11:61,680,016...61,688,223 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr 8:45,341,857...45,345,544
Ensembl chr 8:42,723,971...42,730,904 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750 		JBrowse link
G SPN sialophorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 Ensembl chr16:30,035,243...30,036,445 JBrowse link
G SPP1 secreted phosphoprotein 1 ISO protein:increased expression:dermis:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18390899 PMID:18422975 PMID:21193197 PMID:21335463 RGD:6903869 RGD:9068449 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 1:156,121,029...156,367,565
Ensembl chr 1:159,790,170...160,029,208 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537 		JBrowse link
G STN1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:100,456,589...100,518,010
Ensembl chr10:103,942,422...103,977,847 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | 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 chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STN1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr10:100,456,589...100,518,010
Ensembl chr10:103,942,422...103,977,847 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558 		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 ISO ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION ClinVar
OMIM		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644 		JBrowse link
Coronary Artery Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHACTR1 phosphatase and actin regulator 1 ISO DNA:SNP:intron: (rs12526453) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chr 6:12,560,862...13,136,126
Ensembl chr 6:12,922,871...13,505,609 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422 		JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPC centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 4:56,348,370...56,433,433
Ensembl chr 4:62,741,812...62,826,197
Ensembl chr 4:62,741,812...62,826,197 		JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111 		JBrowse link
diffuse idiopathic skeletal hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) ISO OMIM:106400 MouseDO NCBI chr 6:43,815,006...43,830,290
Ensembl chr 6:45,099,243...45,113,689 		JBrowse link
familial hypocalciuric hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:120,380,094...120,545,725
Ensembl chr 3:127,283,921...127,446,508 		JBrowse link
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2476381 More... NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
G CCDC14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,018,879...121,066,563
Ensembl chr 3:127,918,294...127,965,906 		JBrowse link
G CD86 CD86 molecule ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CSTA cystatin A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chr 3:119,417,489...119,432,244
Ensembl chr 3:126,323,901...126,338,430 		JBrowse link
G DTX3L deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,654,019...119,664,918
Ensembl chr 3:126,558,924...126,569,807 		JBrowse link
G EAF2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:118,936,685...118,996,051
Ensembl chr 3:125,844,338...125,895,416 		JBrowse link
G FAM162A family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,474,737...119,500,668
Ensembl chr 3:126,380,525...126,406,366 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:37,267,918...37,282,253
Ensembl chr 9:38,192,149...38,206,478 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:120,588,195...120,684,177 JBrowse link
G HEG1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,091,832...122,204,436
Ensembl chr 3:128,969,817...129,028,317 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532 NCBI chr  X:123,609,248...123,650,102
Ensembl chr  X:133,916,681...133,948,197 		JBrowse link
G HSPBAP1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,832,903...119,883,383
Ensembl chr 3:126,737,419...126,786,484 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,088,855...119,124,831
Ensembl chr 3:125,996,018...126,032,041 		JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242 		JBrowse link
G ITGB5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,863,676...122,013,438
Ensembl chr 3:128,762,200...128,877,172 		JBrowse link
G KALRN kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,138,136...121,828,723
Ensembl chr 3:128,225,413...128,720,441 		JBrowse link
G KPNA1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,513,919...119,604,737
Ensembl chr 3:126,421,700...126,510,325 		JBrowse link
G MIX23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,447,990...119,473,899
Ensembl chr 3:126,356,033...126,379,627 		JBrowse link
G MUC13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,032,535...122,060,974
Ensembl chr 3:128,907,662...128,934,426 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:120,711,705...120,983,432
Ensembl chr 3:127,614,173...127,793,261 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:25326635 More... NCBI chr  X:118,670,612...118,721,108
Ensembl chr  X:128,968,760...129,018,157 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,662,013...122,731,769
Ensembl chr 3:129,525,882...129,594,899 		JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,773,334...119,823,732
Ensembl chr 3:126,677,868...126,728,256 		JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,665,014...119,730,198
Ensembl chr 3:126,601,919...126,634,842 		JBrowse link
G PARP9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,617,722...119,655,039
Ensembl chr 3:126,522,859...126,559,647 		JBrowse link
G PDIA5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:120,155,981...120,250,961
Ensembl chr 3:127,059,751...127,154,451 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:96,720,988...96,743,594
Ensembl chr  X:107,094,898...107,117,117 		JBrowse link
G ROPN1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,074,182...121,097,320
Ensembl chr 3:127,973,536...127,996,694 		JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:120,299,636...120,370,517
Ensembl chr 3:127,203,060...127,271,841 		JBrowse link
G SEMA5B semaphorin 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,996,933...120,116,899
Ensembl chr 3:126,900,966...126,986,186 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,214,558...122,344,797
Ensembl chr 3:129,080,749...129,210,872 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:118,996,023...119,044,423
Ensembl chr 3:125,902,978...125,951,963 		JBrowse link
G SLC49A4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,883,252...119,968,881
Ensembl chr 3:126,782,782...126,872,936 		JBrowse link
G SNX4 sorting nexin 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,578,527...122,652,007
Ensembl chr 3:129,443,369...129,515,917 		JBrowse link
G UMPS uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029 		JBrowse link
G WDR5B WD repeat domain 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,503,001...119,506,814
Ensembl chr 3:126,410,902...126,411,894 		JBrowse link
G ZNF148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,357,670...122,507,142
Ensembl chr 3:129,229,690...129,320,554 		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 susceptibility ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 OMIM
ClinVar		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
familial hypocalciuric hypercalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 More... NCBI chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124 		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 ISO ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 OMIM
ClinVar		 PMID:1524075 PMID:9536098 PMID:17576681 PMID:20133464 PMID:23222959 More... NCBI chr19:43,827,907...43,840,682 JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:42,137,523...42,299,716
Ensembl chr  X:49,854,165...50,006,363 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chr  X:14,663,847...14,859,294
Ensembl chr  X:22,017,681...22,232,501 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr10:13,277,804...13,300,115
Ensembl chr10:13,251,223...13,636,018 		JBrowse link
G VDR vitamin D receptor ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192 		JBrowse link
Generalized Arterial Calcification of Infancy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN2 cellular communication network factor 2 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar
OMIM		 PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 More... NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644 		JBrowse link
G ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:129,428,107...129,530,898
Ensembl chr 6:133,544,644...133,641,043 		JBrowse link
G ZNF292 zinc finger protein 292 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar PMID:25741868 NCBI chr 6:85,029,362...85,140,760
Ensembl chr 6:88,307,005...88,412,756 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856 		JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia OMIM
ClinVar		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... NCBI chr 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032 		JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMOX1 heme oxygenase 1 ISO ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency ClinVar
OMIM		 PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More... NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063 		JBrowse link
hemochromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18624455 NCBI chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331 		JBrowse link
G ALAD aminolevulinate dehydratase treatment ISO RGD PMID:3679087 RGD:12904688 NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 severity ISO DNA:mutation:cds:c.15599C>T,p.520L(human) RGD PMID:16446107 RGD:11035246 NCBI chr  X:47,219,588...47,241,592
Ensembl chr  X:55,451,794...55,473,680 		JBrowse link
G B2M beta-2-microglobulin ISO OMIM:231100 MouseDO NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991 		JBrowse link
G BMP2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610 		JBrowse link
G BMP6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19252486 PMID:19252488 NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649 		JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17258727 NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:9536098 PMID:12915468 PMID:14630809 PMID:14670915 PMID:15024747 More... NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861 		JBrowse link
G HFE homeostatic iron regulator ISO ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591 		JBrowse link
G HJV hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism
juvenile hemochromatosis, type 2A, OMIM:602390 protein:substitution:CDS:G320V		 CTD
RGD		 PMID:14647275 PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 RGD:1599478 NCBI chr 1:121,738,465...121,742,743
Ensembl chr 1:113,926,383...113,930,761 		JBrowse link
G HMOX1 heme oxygenase 1 ISO OMIM:231100 MouseDO NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063 		JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chr12:37,726,158...37,774,554
Ensembl chr12:38,629,686...38,677,377 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:25741868 NCBI chr2B:76,867,908...76,888,403
Ensembl chr2B:194,787,575...194,810,993 		JBrowse link
G TFR2 transferrin receptor 2 ISO ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More... NCBI chr 7:92,647,431...92,669,889
Ensembl chr 7:106,048,935...106,069,238 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-308G>A (human)
DNA:SNP:promoter:-238G>A (rs361525) (human)		 CTD
RGD		 PMID:11389006 PMID:16793930 RGD:12904050 RGD:12904656 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
hemochromatosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 ISO OMIM NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12915468 PMID:19214511 PMID:28492532 NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861 		JBrowse link
G HFE homeostatic iron regulator ISO ClinVar Annotator: match by term: HFE-related condition | ClinVar Annotator: match by term: Hemochromatosis type 1 OMIM
ClinVar		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591 		JBrowse link
G HJV hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 More... NCBI chr 1:121,738,465...121,742,743
Ensembl chr 1:113,926,383...113,930,761 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:28492532 NCBI chr2B:76,867,908...76,888,403
Ensembl chr2B:194,787,575...194,810,993 		JBrowse link
G TFR2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of ClinVar PMID:12150153 PMID:16424658 PMID:20301523 PMID:22890139 PMID:23600741 More... NCBI chr 7:92,647,431...92,669,889
Ensembl chr 7:106,048,935...106,069,238 		JBrowse link
hemochromatosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAMP hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Juvenile hemochromatosis ClinVar NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861 		JBrowse link
G HFE homeostatic iron regulator ISO ClinVar Annotator: match by term: Juvenile hemochromatosis ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591 		JBrowse link
G HJV hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Juvenile hemochromatosis ClinVar PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15254010 More... NCBI chr 1:121,738,465...121,742,743
Ensembl chr 1:113,926,383...113,930,761 		JBrowse link
hemochromatosis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD34A ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 1:121,793,315...121,798,456 JBrowse link
G HAMP hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of ClinVar PMID:12915468 PMID:19214511 PMID:28492532 NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861 		JBrowse link
G HJV hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: HJV-related condition | ClinVar Annotator: match by term: Hemochromatosis type 2A OMIM
ClinVar		 PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 More... NCBI chr 1:121,738,465...121,742,743
Ensembl chr 1:113,926,383...113,930,761 		JBrowse link
G POLR3GL RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 1:121,781,067...121,793,266
Ensembl chr 1:113,884,899...113,888,690 		JBrowse link
G TXNIP thioredoxin interacting protein ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 1:121,763,312...121,767,468 JBrowse link
hemochromatosis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAMP hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 2B OMIM
ClinVar		 PMID:12469120 PMID:12915468 PMID:15082576 PMID:15099344 PMID:15198949 More... NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861 		JBrowse link
hemochromatosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFR2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 | ClinVar Annotator: match by term: TFR2-related condition OMIM
ClinVar		 PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More... NCBI chr 7:92,647,431...92,669,889
Ensembl chr 7:106,048,935...106,069,238 		JBrowse link
hemochromatosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis due to defect in ferroportin | ClinVar Annotator: match by term: Hemochromatosis type 4 OMIM
ClinVar		 PMID:9536098 PMID:11431687 PMID:11518736 PMID:12730114 PMID:12857562 More... NCBI chr2B:76,867,908...76,888,403
Ensembl chr2B:194,787,575...194,810,993 		JBrowse link
hemochromatosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEST1 bestrophin 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5 ClinVar PMID:14615048 PMID:25741868 PMID:28492532 NCBI chr11:57,314,430...57,329,450
Ensembl chr11:60,672,835...60,687,417 		JBrowse link
G FTH1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5 OMIM
ClinVar		 PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532 NCBI chr11:57,329,163...57,332,248 JBrowse link
G TFR2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 ClinVar PMID:28492532 NCBI chr 7:92,647,431...92,669,889
Ensembl chr 7:106,048,935...106,069,238 		JBrowse link
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAM3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | ClinVar Annotator: match by term: JAM3-related condition OMIM
ClinVar		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chr11:128,916,024...129,006,497
Ensembl chr11:132,783,580...132,864,657 		JBrowse link
hemosiderosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CP ceruloplasmin susceptibility ISO DNA:splice-site mutation RGD PMID:7539672 RGD:1599626 NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544 		JBrowse link
hereditary arterial and articular multiple calcification syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NT5E 5'-nucleotidase ecto ISO ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition OMIM
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 6:83,333,428...83,379,585
Ensembl chr 6:86,615,409...86,661,601 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422 		JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO DNA:deletions, snps:multiple (human)
OMIM:241530		 RGD
MouseDO		 PMID:16358215 PMID:19570882 RGD:7242924 RGD:7242925 NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition OMIM
ClinVar		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 9:108,290,905...108,296,186
Ensembl chr 9:137,259,243...137,264,947 		JBrowse link
hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCA calcitonin related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1115441 PMID:12637657 NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267 		JBrowse link
G CALCR calcitonin receptor ISO CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chr 7:85,382,167...85,532,562
Ensembl chr 7:98,975,906...99,047,162 		JBrowse link
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Hypercalcemia ClinVar PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More... NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458 		JBrowse link
G PTH parathyroid hormone ISO associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 More... RGD:7242689 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802 		JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422 		JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chr13:23,750,835...23,784,740 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 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 OMIM
ClinVar		 PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More... NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716 		JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458 		JBrowse link
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 OMIM
ClinVar		 PMID:9536098 PMID:12324554 PMID:16199547 PMID:16688119 PMID:17576681 More... NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975 		JBrowse link
Hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor susceptibility
no_association		 ISO DNA:missense mutation: :p.E1011Q (human)
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human)
mRNA, protein:increased expression:kidney (rat)
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human)		 RGD PMID:12239240