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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 Cp ceruloplasmin ISO
ISS		 ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia
OMIM:604290
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1458725 PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:18414213 PMID:24033266 PMID:28492532 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481 		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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
DNA:mutations:exons:		 CTD
ClinVar
MouseDO
RGD		 PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... RGD:11069491 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17846997 PMID:20131292 PMID:23602593 PMID:24033266 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:24686847 PMID:25741868 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458 		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 chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118 		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 chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846		 CTD
ClinVar
MouseDO		 PMID:16845398 PMID:17846997 PMID:20131292 PMID:23602593 PMID:24033266 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144 		JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555 		JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933 		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 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852 		JBrowse link
G Arih2os ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477 		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 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819 		JBrowse link
G C8h3orf62  similar to human chromosome 3 open reading frame 62 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,080,032...109,084,588
Ensembl chr 8:109,036,030...109,097,895 		JBrowse link
G C8h3orf84 similar to human chromosome 3 open reading frame 84 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791 		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 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169 		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 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216 		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 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367 		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 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354 		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 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		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 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568 		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 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286 		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 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		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 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210 		JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647 		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 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194 		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 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434 		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 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359 		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 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953 		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 8:108,693,068...108,737,278 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 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166 		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 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918 		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 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		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 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115 		JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,264,098...109,264,188 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 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156 		JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416 		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 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455 		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 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563 		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 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246 		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 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194 		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 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067 		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 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473 		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 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634 		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 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628 		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 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359 		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 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430 		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 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771 		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 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		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 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675 		JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919 		JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083 		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 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408 		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 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512 		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 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778 		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 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988 		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 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564 		JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271 		JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 OMIM
ClinVar		 PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796 		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 8:108,665,289...108,674,097
Ensembl chr 8:108,665,292...108,674,099 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172 		JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480 		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 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,035,402...109,079,382
Ensembl chr 8:109,036,099...109,080,427 		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 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118 		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 chr 1:202,159,081...202,175,012
Ensembl chr 1:202,159,082...202,175,012 		JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,279,751...201,285,803
Ensembl chr 1:201,279,851...201,283,175 		JBrowse link
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family, member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,145,309...201,162,675
Ensembl chr 1:201,145,309...201,163,921 		JBrowse link
G Aldh3b2 aldehyde dehydrogenase 3 family, member B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,250,260...201,264,699
Ensembl chr 1:201,253,157...201,264,705 		JBrowse link
G Aldh3b3 aldehyde dehydrogenase 3 family, member B3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,193,832...201,201,666
Ensembl chr 1:201,187,962...201,250,204 		JBrowse link
G Ankrd13d ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,565,712...201,577,987
Ensembl chr 1:201,565,712...201,577,933 		JBrowse link
G Ano1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:199,751,439...199,900,099
Ensembl chr 1:199,751,439...199,900,069 		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 chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804 		JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028 		JBrowse link
G C1h11orf24 similar to human chromosome 11 open reading frame 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,945,188...200,953,953
Ensembl chr 1:200,945,180...200,962,585 		JBrowse link
G C1h11orf86 similar to human chromosome 11 open reading frame 86 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,784,009...201,785,916
Ensembl chr 1:201,784,009...201,785,916 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,459,061...201,470,019
Ensembl chr 1:201,459,076...201,469,845 		JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824 		JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,763,645...202,764,660
Ensembl chr 1:202,763,631...202,764,703 		JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,135,021...202,137,717
Ensembl chr 1:202,134,963...202,138,337 		JBrowse link
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915 		JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240 		JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897 		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 chr 1:201,391,056...201,393,137
Ensembl chr 1:201,391,466...201,393,137 		JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516 		JBrowse link
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605 		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 chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089 		JBrowse link
G Coro1b coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,442,977...201,448,416
Ensembl chr 1:201,443,014...201,448,416 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030 		JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541 		JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425 		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 chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		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 chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270 		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 chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658 		JBrowse link
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653 		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 chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367 		JBrowse link
G Fgf19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187 		JBrowse link
G Fgf4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,023,937...200,027,793
Ensembl chr 1:200,024,056...200,025,466 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399 		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 chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930 		JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870 		JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959 		JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,593,635...202,603,446
Ensembl chr 1:202,593,692...202,603,445 		JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,435,878...201,438,373
Ensembl chr 1:201,435,884...201,437,443 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		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 chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458 		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 chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872 		JBrowse link
G Kdm2a lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,612,427...201,682,359
Ensembl chr 1:201,612,453...201,680,787 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819 		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 chr 1:201,888,569...201,891,861
Ensembl chr 1:201,888,569...201,891,861 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		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 chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Lto1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,074,247...200,080,951
Ensembl chr 1:200,074,253...200,088,061 		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 chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652 		JBrowse link
G Mrgprd MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,479,204...200,487,902
Ensembl chr 1:200,485,189...200,486,148 		JBrowse link
G Mrgprf MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,464,100...200,473,588
Ensembl chr 1:200,463,973...200,473,660 		JBrowse link
G mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756 		JBrowse link
G Mrpl21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,529,416...200,542,568
Ensembl chr 1:200,529,416...200,537,896 		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 chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724 		JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,293,660...201,295,233
Ensembl chr 1:201,292,619...201,295,224 		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 chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561 		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 chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857 		JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,394,099...201,407,523
Ensembl chr 1:201,394,149...201,407,522 		JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348 		JBrowse link
G Pold4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,526,591...201,528,406
Ensembl chr 1:201,526,665...201,528,401 		JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327 		JBrowse link
G Ppp6r3 protein phosphatase 6, regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,693,128...200,807,578
Ensembl chr 1:200,693,440...200,807,548 		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 chr 1:201,449,133...201,451,293
Ensembl chr 1:201,449,113...201,451,288 		JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868
Ensembl chr  X:202,405,759...202,413,868 		JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,488,511...201,553,582
Ensembl chr 1:201,487,136...201,553,608 		JBrowse link
G Rbm14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,076,940...202,105,688
Ensembl chr 1:202,078,287...202,105,665 		JBrowse link
G Rbm4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,078,442...202,087,506
Ensembl chr 1:202,085,279...202,105,380 		JBrowse link
G Rbm4b RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,047,934...202,058,025
Ensembl chr 1:202,047,927...202,058,020 		JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,899,358...201,902,593
Ensembl chr 1:201,899,358...201,902,484 		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 chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,708,699...201,724,405
Ensembl chr 1:201,708,699...201,722,632 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516 		JBrowse link
G Rps6kb2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,451,265...201,458,096
Ensembl chr 1:201,451,265...201,458,078 		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 chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759 		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 chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591 		JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473 		JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171 		JBrowse link
G Snx32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743 		JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283 		JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,557,167...201,565,577
Ensembl chr 1:201,557,169...201,564,753 		JBrowse link
G Syt12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,729,307...201,760,192
Ensembl chr 1:201,730,371...201,759,609 		JBrowse link
G Tbc1d10c TBC1 domain family, member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,476,258...201,484,876
Ensembl chr 1:201,477,157...201,564,920 		JBrowse link
G Tbx10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,285,729...201,292,676
Ensembl chr 1:201,279,829...201,292,601 		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 chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
G Tesmin testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,629,688...200,648,434
Ensembl chr 1:200,630,144...200,648,433 		JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272 		JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,419,225...201,424,778
Ensembl chr 1:201,419,264...201,431,411 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182 		JBrowse link
G Top6bl TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,902,564...201,989,945 JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,416,538...200,446,252
Ensembl chr 1:200,416,540...200,446,236 		JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798 		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 chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338 		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 chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880 		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 chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465 		JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235 		JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438 		JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980 		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 chr 3:146,222,699...146,232,859
Ensembl chr 3:146,222,240...146,232,909 		JBrowse link
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987 		JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889 		JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,035,082...146,064,676
Ensembl chr 3:146,035,066...146,064,676 		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 chr 3:145,873,995...145,942,439
Ensembl chr 3:145,873,996...145,942,319 		JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834 		JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:145,806,160...145,869,434
Ensembl chr 3:145,807,095...145,869,330 		JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:145,941,787...145,989,271
Ensembl chr 3:145,941,839...145,989,543 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386 		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 chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476 		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 chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741 		JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar		 PMID:9536098 PMID:9889202 PMID:15146470 PMID:15955093 PMID:16817193 More... NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		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 OMIM
ClinVar		 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 More... NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456 		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 chr10:30,367,841...30,385,956
Ensembl chr10:30,370,727...30,385,944 		JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr 4:157,551,276...157,552,924 JBrowse link
Albright's hereditary osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO
ISS		 OMIM:103580
ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A
DNA:deletions:exon:multiple
DNA:splice-site mutation		 OMIM
MouseDO
ClinVar
RGD		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 More... RGD:11568049, RGD:11568047 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:103580 MouseDO NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G		 OMIM
CTD
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		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 IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen IDA RGD PMID:23291307 RGD:8549476 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IEP associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Grp gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061 		JBrowse link
G Gsn gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G Sod1 superoxide dismutase 1 IEP associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 IEP associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 susceptibility IAGP DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008 		JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IEP mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28387797 PMID:28492532 PMID:30675029 NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Notch1 notch receptor 1 ISO DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human)
ClinVar Annotator: match by term: Aortic valve disease 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More... RGD:1580758 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763 		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 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175 		JBrowse link
arterial calcification of infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25758222 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO
ISS		 DNA:missense mutations:cds:p.G342V, p.Y371F (human)
OMIM:208000 | OMIM:614473
ClinVar Annotator: match by term: Idiopathic infantile arterial calcification
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.V246D (mouse)
DNA:mutations:multiple (human)
DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human)		 MouseDO
ClinVar
CTD
RGD		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... RGD:1601044, RGD:13204734, RGD:6906932, RGD:731203 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
autosomal dominant hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked IEP RGD PMID:15721149 RGD:1599092 NCBI chr  X:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein IEP RGD PMID:2106357 RGD:6483581 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Casr calcium-sensing receptor ISO DNA:missense mutation:cds:p.E128A (human)
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia
DNA:missense mutation:cds:p.T151M (human)
DNA:missense mutation:cds:p.L723Q (mouse)
DNA:missense mutations:cds:multiple (human)		 ClinVar
RGD		 PMID:11136551 PMID:11701698 PMID:12067826 PMID:12574188 PMID:12733714 More... RGD:1598940, RGD:7205656, RGD:7205497, RGD:7204717 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Pth parathyroid hormone IEP protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		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 ISS
ISO		 OMIM:601198
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL		 MouseDO
ClinVar
OMIM		 PMID:1706284 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8675635 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		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
ISS		 OMIM:615361
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2		 OMIM
MouseDO
ClinVar		 PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 More... NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome		 CTD
ClinVar		 PMID:11152759 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		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
ISS		 DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
OMIM:193100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)		 MouseDO
CTD
ClinVar
OMIM
RGD		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821 		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:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		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
ISS		 ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312		 ClinVar
MouseDO		 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711 		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 chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:24374105 RGD:11352276 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Meis2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 PMID:25722432 RGD:13207434, RGD:13207434 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Pth parathyroid hormone disease_progression IEP protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 3:116,427,095...116,441,049
Ensembl chr 3:116,427,098...116,441,051 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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 chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO associated with hypertension;protein:undercarboxylated:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:		 CTD
RGD		 PMID:21335463 PMID:20197689 PMID:18422975 RGD:6483566, RGD:9068449 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 PMID:31843813 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G C6 complement C6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275 		JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 PMID:21335463 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl9 C-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr10:68,366,486...68,371,408
Ensembl chr10:68,366,487...68,371,369 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12148126 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		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 chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Fcgr1a Fc gamma receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G 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 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416 		JBrowse link
G Ly86 lymphocyte antigen 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr17:27,415,807...27,499,695
Ensembl chr17:27,415,830...27,487,260 		JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:15045141 RGD:1582501 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22110751 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984 		JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711 		JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12803500 NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173 		JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Spn sialophorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628 		JBrowse link
G Spp1 secreted phosphoprotein 1 IEP
ISO		 CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:		 CTD
RGD		 PMID:21193197 PMID:21335463 PMID:18390899 PMID:18422975 RGD:6903869, RGD:9068449 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946 		JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 More... NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Mdfic MyoD family inhibitor domain containing ISS OMIM:617300 MouseDO NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161 		JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome		 CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531 		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: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:16199547 PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531 		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 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		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:g.13011943A>G (rs9349379) (human) RGD PMID:23394302 RGD:11058683 NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		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 chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476 		JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH		 OMIM
CTD
ClinVar		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		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 ISS OMIM:106400 MouseDO NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203 		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 chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		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 chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956 		JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488 		JBrowse link
G Dtx3l deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,814,926...64,824,539
Ensembl chr11:64,814,926...64,824,538 		JBrowse link
G Eaf2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610 		JBrowse link
G Fam162a family with sequence similarity 162, member A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889 		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 chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051 		JBrowse link
G Hspbap1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756 		JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472 		JBrowse link
G Kalrn kalirin, RhoGEF kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610 		JBrowse link
G Kpna1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623 		JBrowse link
G Mix23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000 		JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:23047739 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Osbpl11 oxysterol binding protein-like 11 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444 		JBrowse link
G Parp14 poly (ADP-ribose) polymerase family, member 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916 		JBrowse link
G Parp9 poly (ADP-ribose) polymerase family, member 9 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455 		JBrowse link
G Pdia5 protein disulfide isomerase family A, member 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:28492532 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148 		JBrowse link
G Sec22a SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319 		JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311 		JBrowse link
G Slc12a8 solute carrier family 12, member 8 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834 		JBrowse link
G Slc15a2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225 		JBrowse link
G Slc49a4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926 		JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174 		JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
G Wdr5b WD repeat domain 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807 		JBrowse link
G Zfp148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772 		JBrowse link
familial hypocalciuric hypercalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO
ISS		 ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
OMIM:145980
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A213E (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)		 ClinVar
OMIM
MouseDO
CTD
RGD		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... RGD:7205436, RGD:7205499, RGD:7205440, RGD:1600616 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 More... NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812 		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: Familial hypocalciuric hypercalcemia 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1524075 PMID:9536098 PMID:17576681 PMID:20133464 PMID:23222959 More... NCBI chr 1:77,417,496...77,428,903
Ensembl chr 1:77,417,477...77,428,905 		JBrowse link
Familial Hypophosphatemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 TAS RGD PMID:12419819 RGD:1303356 NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821 		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:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets		 CTD
ClinVar		 PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
fetal erythroblastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146 		JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203 		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 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		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 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 1:20,563,700...20,635,044
Ensembl chr 1:20,563,697...20,635,041 		JBrowse link
Generalized Arterial Calcification of Infancy, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 OMIM
ClinVar		 PMID:10811882 PMID:10835642 PMID:11179012 PMID:11439001 PMID:11474653 More... NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO
ISS		 ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
DNA:mutations:cds:multiple (human)		 OMIM
CTD
ClinVar
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017 		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: Heme oxygenase 1 deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9884342 PMID:21088618 PMID:22023467 PMID:25741868 PMID:26526137 More... NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		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 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Alad aminolevulinate dehydratase treatment IDA RGD PMID:3679087 RGD:12904688 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474 		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:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
G B2m beta-2 microglobulin ISS OMIM:231100 MouseDO NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19252486 PMID:19252488 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17258727 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO juvenile hereditary hemochromatosis, HFE2B, OMIM:602390
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:12915468 PMID:14630809 PMID:14670915 PMID:15024747 More... RGD:1599358 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		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
DNA:missense mutation: :p.C282Y (rs1800562) (human)
CTD Direct Evidence: marker/mechanism
associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human)
DNA:missense mutation:cds:p.S65C (human)		 ClinVar
CTD
RGD		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... RGD:7207252, RGD:14746965, RGD:10755540, RGD:8694411, RGD:8694372 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO juvenile hemochromatosis, type 2A, OMIM:602390
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 PMID:14647275 RGD:1599478 NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		JBrowse link
G Hmox1 heme oxygenase 1 ISS OMIM:231100 MouseDO NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hemochromatosis		 CTD
ClinVar		 PMID:16457665 PMID:21411349 NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481 		JBrowse link
G Tfr2 transferrin receptor 2 ISO hemochromatosis, type 3, HFE3, OMIM:604250
ClinVar Annotator: match by term: Hereditary hemochromatosis
ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11102989 PMID:11313241 PMID:11358389 PMID:12130528 More... RGD:1599386 NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-308G>A (human)		 CTD
RGD		 PMID:16793930 PMID:11389006 PMID:16793930 RGD:12904656, RGD:12904050 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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 chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:9536098 PMID:12915468 PMID:17576681 PMID:19214511 PMID:28492532 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Hfe homeostatic iron regulator ISO
ISS		 ClinVar Annotator: match by term: Hemochromatosis type 1
OMIM:235200		 ClinVar
OMIM
MouseDO		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		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 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:28492532 NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481 		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 chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591 		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 chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Hemochromatosis type 2 ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 2 | ClinVar Annotator: match by term: Juvenile hemochromatosis		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29764732 NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		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 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116 		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 chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO
ISS		 OMIM:602390
ClinVar Annotator: match by term: Hemochromatosis type 2A		 OMIM
MouseDO
ClinVar		 PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 More... NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114 		JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886 		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
ISS		 OMIM:613313
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 2B		 OMIM
MouseDO
CTD
ClinVar		 PMID:12469120 PMID:12915468 PMID:15082576 PMID:15099344 PMID:15198949 More... NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		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
ISS
IAGP		 OMIM:604250
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3
DNA:missense mutation:cds:Ala679Gly (rat)		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More... RGD:150520058 NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591 		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
ISS		 OMIM:606069
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 4		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:11431687 PMID:11518736 PMID:12730114 PMID:12857562 More... NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481 		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:28492532 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 5		 OMIM
CTD
ClinVar		 PMID:11389486 PMID:14615048 PMID:28492532 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 ClinVar PMID:28492532 NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts		 OMIM
CTD
ClinVar		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355 		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 PMID:7539672 RGD:1599626, RGD:1599626 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome		 OMIM
CTD
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881 		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 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		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 chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS		 OMIM:241530
DNA:deletions, snps:multiple (human)		 MouseDO
RGD		 PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria		 OMIM
CTD
ClinVar		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G C13h1orf105  similar to human chromosome 1 open reading frame 105 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322 		JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:93,322,653...93,540,706
Ensembl chr13:93,322,711...93,538,646 		JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270 		JBrowse link
G Fen1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:206,845,126...206,849,821
Ensembl chr 1:206,844,884...206,850,003 		JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 More... NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192 		JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More... NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kif19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr10:99,800,185...99,826,546
Ensembl chr10:99,799,400...99,826,546 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 3:156,939,763...156,941,723
Ensembl chr 3:156,939,809...156,941,890 		JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824 		JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:62,654,218...62,755,465
Ensembl chr10:62,654,281...62,755,468 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 PMID:31130284 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 More... NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211 		JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:25049390 PMID:25124994 PMID:25741868 More... NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Serpina11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:122,903,246...122,912,695
Ensembl chr 6:122,903,250...122,912,670 		JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
G Svopl SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:66,697,550...66,751,699
Ensembl chr 4:66,698,177...66,758,978 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28749478 NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504 		JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser