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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
For additional species annotation, visit the Alliance of Genome Resources.


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 ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar Annotator: match by term: Aceruloplasminemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:604290		 OMIM
ClinVar
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: Aceruloplasminemia
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
DNA:mutations:exons:		 CTD
ClinVar
RGD		 PMID:9889202 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 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:23602593 PMID:24033266 PMID:24183309 PMID:25582466 PMID:25741868 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 CTD PMID:24686847 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 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
ISS		 ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846		 ClinVar
MouseDO		 PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 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 ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 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
ISS		 ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846		 ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 1:202,894,504...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:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 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 ClinVar Annotator: match by OMIM:225750
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 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 Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant		 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 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 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...109,637,252
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...108,767,286
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 8:108,250,654...108,254,526
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 LOC498675 hypothetical LOC498675 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895 		JBrowse link
G LOC680045 hypothetical protein LOC680045 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 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...108,611,389
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...109,522,625
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 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...108,387,083
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 8:109,691,476...109,706,409
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
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant		 ClinVar
OMIM		 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...108,674,099
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...109,080,427
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 ClinVar
OMIM		 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 Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 ClinVar NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3
ClinVar Annotator: match by OMIM:610329		 OMIM
ClinVar		 PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:20131292 More... NCBI chr 1:202,894,504...202,895,675
Ensembl chr 1:202,894,643...202,897,516 		JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4
ClinVar Annotator: match by OMIM:610333		 OMIM
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
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
ClinVar Annotator: match by OMIM:612952		 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 Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5 ClinVar 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
ClinVar Annotator: match by OMIM:615010		 OMIM
ClinVar		 PMID:9889202 PMID:15146470 PMID:15955093 PMID:16817193 PMID:19017046 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
ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7
ClinVar Annotator: match by OMIM:615846		 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: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 ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA
DNA:deletions:exon:multiple
DNA:splice-site mutation
ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS		 OMIM
ClinVar
RGD		 PMID:8072545 PMID:24033266 PMID:25741868 PMID:28492532 PMID:11095461 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 ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome		 OMIM
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: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome		 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 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, Calcification of 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:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		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 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 chr13:62,164,080...62,169,770
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
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 DNA:missense mutations:cds:p.G342V, p.Y371F (human)
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)		 CTD
RGD		 PMID:15940697 PMID:23798568 PMID:20016754 PMID:12881724 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)
DNA:missense mutation:cds:p.T151M (human)
DNA:missense mutation:cds:p.L723Q (mouse)
DNA:missense mutations:cds:multiple (human)		 RGD PMID:7874174 PMID:20501971 PMID:15347804 PMID:8813042 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 ISO ClinVar Annotator: match by OMIM:601198
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1		 ClinVar
OMIM		 PMID:1706284 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8698326 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 ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 2
ClinVar Annotator: match by This custom term has been created by RGD curators.		 OMIM
ClinVar		 PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 NCBI chr 7:8,163,752...8,177,636
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 ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 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 DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by OMIM:193100		 ClinVar
OMIM
RGD		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821 		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
ISS		 ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312		 ClinVar
MouseDO		 PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 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 Pdgfb platelet derived growth factor subunit B ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO 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 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr18:54,500,002...54,538,843
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
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 chr11:78,117,903...78,145,956 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 2:53,846,027...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 Ccl6 C-C motif chemokine ligand 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr10:68,381,179...68,385,811
Ensembl chr10:68,380,188...68,384,001 		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 fragment of IgG receptor Ia 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 4:159,914,393...159,922,073
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 1:197,614,585...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 chr18:54,500,002...54,538,843
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 chr11:86,183,800...86,186,109
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 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
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 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:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 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:25741868 PMID:28492532 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
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2		 ClinVar
OMIM		 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
Cole Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Cole disease
ClinVar Annotator: match by OMIM:615522		 OMIM
ClinVar		 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 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 pseudohyperkalemia and 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 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 OMIM:194380		 OMIM
ClinVar		 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 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 Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar Annotator: match by term: Familial benign hypercalcemia		 ClinVar PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2983592 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
familial hypocalciuric hypercalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type 1
ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:145980
ClinVar Annotator: match by null
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
CTD
OMIM
RGD		 PMID:791660 PMID:1302026 PMID:1706284 PMID:2211966 PMID:3966479 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 ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type II OMIM
ClinVar		 PMID:23802516 PMID:26729423 NCBI chr 7:8,163,752...8,177,636
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: Hypocalciuric hypercalcemia, familial, type III
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1524075 PMID:20133464 PMID:23222959 PMID:24081735 PMID:24731014 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 4:159,914,393...159,922,073
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:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets		 CTD
ClinVar		 PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 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:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 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 fragment of IgG receptor IIa 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 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 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 OMIM
ClinVar		 PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11159191 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		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: Generalized arterial calcification of infancy 2
ClinVar Annotator: match by OMIM:614473		 OMIM
ClinVar		 PMID:10811882 PMID:10835642 PMID:11179012 PMID:11439001 PMID:11536079 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 ClinVar Annotator: match by term: GRACILE syndrome
ClinVar Annotator: match by OMIM:603358		 OMIM
ClinVar		 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 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 ClinVar Annotator: match by term: Greenberg dysplasia
ClinVar Annotator: match by OMIM:215140
DNA:mutations:cds:multiple (human)		 OMIM
ClinVar
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... RGD:9588626 NCBI chr13:93,539,360...93,564,065 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
ClinVar Annotator: match by OMIM:614034		 OMIM
ClinVar		 PMID:9884342 PMID:33066778 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...26,469,034
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 Annotator: match by term: Hemochromatosis type 1		 ClinVar
CTD
RGD		 PMID:9536098 PMID:12469120 PMID:12915468 PMID:14630809 PMID:14670915 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: Hereditary hemochromatosis
ClinVar Annotator: match by term: HFE POLYMORPHISM
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 Annotator: match by OMIM:235200		 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 2:184,065,970...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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 1		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11313241 PMID:12130528 PMID:12150153 PMID:14633868 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:12469120 PMID:12915468 PMID:17576681 PMID:19214511 More... 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 1 OMIM
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 ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 More... NCBI chr 2:184,065,970...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 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:22890139 PMID:23600741 PMID:24055163 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 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 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 ClinVar Annotator: match by OMIM:602390
ClinVar Annotator: match by term: Hemochromatosis type 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr 2:184,065,970...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 Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar
OMIM		 PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 More... NCBI chr 2:184,065,970...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 ClinVar Annotator: match by term: Hemochromatosis type 2B
ClinVar Annotator: match by OMIM:613313		 OMIM
ClinVar		 PMID:12469120 PMID:12915468 PMID:15082576 PMID:15198949 PMID:19214511 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 ClinVar Annotator: match by term: Hemochromatosis type 3
ClinVar Annotator: match by term: Hereditary hemochromatosis type 3
ClinVar Annotator: match by OMIM:604250		 OMIM
ClinVar		 PMID:9536098 PMID:10802645 PMID:11313241 PMID:12130528 PMID:12150153 More... 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 ClinVar Annotator: match by term: Hemochromatosis type 4
ClinVar Annotator: match by OMIM:606069		 OMIM
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 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 ClinVar Annotator: match by term: Hemochromatosis type 5
ClinVar Annotator: match by OMIM:615517		 OMIM
ClinVar		 PMID:11389486 PMID:14615048 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 ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
ClinVar Annotator: match by OMIM:613730		 OMIM
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 ClinVar Annotator: match by OMIM:211800 OMIM
ClinVar		 PMID:21288095 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 ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by OMIM:241530		 OMIM
ClinVar		 PMID:2983203 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 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 chr19:51,883,713...51,886,725
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 Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564 		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 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 5:121,344,637...121,368,853
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 JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949 		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:25741868 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:7573038 PMID:7680524 PMID:8644704 PMID:9099834 More... NCBI chr12:26,701,191...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:20642338 More... NCBI chr10:15,311,637...15,312,481 JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
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: Hydrops fetalis, non-immune ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		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: Non-immune hydrops fetalis
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 transcription regulator 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25303977 PMID:25741868 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:62,654,218...62,755,464
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 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:26036949 PMID:26841830 PMID:28492532 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:30244526 PMID:31680349 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 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis 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 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G RGD1309106 similar to hypothetical protein 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 Rit1 Ras-like without CAAX 1 ISO 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:21911697 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		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 Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 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
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia		 ClinVar
OMIM		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395 		JBrowse link
hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1115441 PMID:12637657 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105 		JBrowse link
G Calcr calcitonin receptor ISO CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392 		JBrowse link
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R990G, p.E1011Q (human)		 CTD
RGD		 PMID:9011580 PMID:12671052 PMID:20602573 RGD:734698, RGD:7205445 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		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 Pth parathyroid hormone IDA
ISO		 associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 More... RGD:7242689 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Pth1r parathyroid hormone 1 receptor IDA protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy
ClinVar Annotator: match by term: Hypercalcemia, infantile, 1		 ClinVar
OMIM		 PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More... NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy ClinVar PMID:24033266 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 ClinVar
OMIM		 PMID:16199547 PMID:20466674 PMID:25741868 PMID:26047794 PMID:26787776 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
Hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor no_association
susceptibility		 ISO
IEP		 associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human)
DNA:missense mutation: :p.E1011Q (human)
mRNA, protein:increased expression:kidney (rat)
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human)		 RGD PMID:19887834 PMID:20602573 PMID:22137721 PMID:12239240 RGD:7205502, RGD:7205445, RGD:7205675, RGD:7205666 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting ClinVar PMID:14628289 NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751 PMID:3017235 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164314 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 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9560283 PMID:21784483 RGD:7242936 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 ClinVar Annotator: match by term: Hypercalciuria ClinVar NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
G Vdr vitamin D receptor IEP protein:increased expression:kidney, small intestine RGD PMID:19929616 RGD:4889914 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Hypercalciuria, Absorptive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy10 adenylate cyclase 10 susceptibility ISO ClinVar Annotator: match by term: Familial idiopathic hypercalciuria
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
Hypercalciuria, Childhood Idiopathic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
hyperferritinemia-cataract syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:deletion:5' utr: (human)
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome
ClinVar Annotator: match by OMIM:600886
DNA:mutations:5'utr:		 ClinVar
OMIM
RGD		 PMID:2336358 PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 More... RGD:1598966, RGD:5509864 NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts		 ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292 		JBrowse link
Hyperphosphatasia with Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:28492532 More... NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1724113 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 More... NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1
ClinVar Annotator: match by OMIM:239300		 OMIM
ClinVar		 PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 More... NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,890,042...56,895,888
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,823,448...56,861,075
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,176,840...57,185,492
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,675,537...57,680,133 JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,065,739...57,071,880
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,170,417...58,200,947
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,982,409...57,983,186
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,199,931...57,203,964
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Olr834 olfactory receptor 834 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Olr840 olfactory receptor 840 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2
ClinVar Annotator: match by OMIM:614749		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22683086 PMID:24033266 More... NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 3
ClinVar Annotator: match by OMIM:614207		 OMIM
ClinVar		 PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 PMID:25741868 More... NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 4
ClinVar Annotator: match by OMIM:615716		 OMIM
ClinVar		 PMID:22315194 PMID:24439110 PMID:25741868 PMID:27120253 PMID:28327575 More... NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295 		JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617 		JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar
OMIM		 PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:32466763 NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 ClinVar
OMIM		 PMID:25741868 PMID:26293662 NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585 		JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 ClinVar PMID:25741868 PMID:26293662 NCBI chr 4:87,501,859...87,505,494
Ensembl chr 4:87,501,859...87,505,494 		JBrowse link
hyperphosphatemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 4:159,914,393...159,922,073
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 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 Pth parathyroid hormone IDA
ISO		 associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic 		CTD
RGD		 PMID:12399635 PMID:23548309 PMID:23211335 RGD:7242565, RGD:7242693 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 protein:increased expression:kidney (mouse) RGD PMID:18835926 PMID:20418498 RGD:7242940, RGD:7243099 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
hyperphosphatemic familial tumoral calcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Kl Klotho ISO
ISS		 ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic
OMIM:211900		 ClinVar
MouseDO		 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213 		JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341 		JBrowse link
G Adipor2 adiponectin receptor 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Akap3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,688,049...159,714,067
Ensembl chr 4:159,699,289...159,713,903 		JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,514,200...158,855,639
Ensembl chr 4:158,496,014...158,855,651 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G B4galnt3 beta-1,4-N-acetyl-galactosaminyl transferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:153,410,907...153,509,019
Ensembl chr 4:153,409,004...153,509,321 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,408,657...152,524,614
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
G Ccdc77 coiled-coil domain containing 77 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:153,534,184...153,566,059
Ensembl chr 4:153,534,187...153,566,545 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cd9 CD9 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Clec4a C-type lectin domain family 4, member A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,340,439...156,434,212
Ensembl chr 4:156,414,688...156,432,402 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817 		JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240 		JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,589,591...156,598,969
Ensembl chr 4:156,589,792...156,598,848 		JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948 		JBrowse link
G Cracr2a calcium release activated channel regulator 2A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,428,987...160,517,427
Ensembl chr 4:160,408,077...160,518,107 		JBrowse link
G Dcp1b decapping mRNA 1B ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,358,267...152,395,747
Ensembl chr 4:152,358,241...152,397,145 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861 		JBrowse link
G Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,715,658...159,757,660
Ensembl chr 4:159,715,417...159,757,627 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,763,664...153,055,706
Ensembl chr 4:152,767,419...153,055,639 		JBrowse link
G Fam90a1 family with sequence similarity 90, member A1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr16:70,098,439...70,106,147 JBrowse link
G Fbxl14 F-box and leucine-rich repeat protein 14 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,662,542...152,666,360
Ensembl chr 4:152,662,542...152,666,360 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1		 ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447 		JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518 		JBrowse link
G Foxm1 forkhead box M1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,639,561...161,652,012
Ensembl chr 4:161,638,816...161,650,684 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 OMIM
ClinVar		 PMID:3839626 PMID:3998061 PMID:8338191 PMID:13774168 PMID:15133511 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,626,438...159,650,327 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,662,200...157,668,341 JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,551,276...157,552,924 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302 		JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310 		JBrowse link
G Itfg2 integrin alpha FG-GAP repeat containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,684,249...161,698,315
Ensembl chr 4:161,684,249...161,698,422 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189 		JBrowse link
G Kdm5a lysine demethylase 5A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422 		JBrowse link
G Kl Klotho ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:17710231 PMID:25741868 PMID:29389098 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,455,465...155,467,301
Ensembl chr 4:155,455,495...155,467,424 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,870,493...157,883,970
Ensembl chr 4:157,881,796...157,882,950 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860 		JBrowse link
G Lrtm2 leucine-rich repeats and transmembrane domains 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:152,485,863...152,508,248
Ensembl chr 4:152,485,866...152,500,377 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539 		JBrowse link
G M6pr mannose-6-phosphate receptor, cation dependent ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,501,080...155,510,219
Ensembl chr 4:155,500,921...155,510,216 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar