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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:calcinosis
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Accession:DOID:182 term browser browse the term
Definition:A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. (DO)
Synonyms:exact_synonym: Microcalcification;   Microcalcifications;   Microcalcinoses;   Microcalcinosis;   Pathologic Calcification;   Tumoral Calcinoses;   calcinoses;   pathologically calcified structure;   tumoral calcinosis
 primary_id: MESH:D002114
 xref: EFO:0003837;   NCI:C3672
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr13:124,426,313...124,438,848
Ensembl chr13:124,426,308...124,438,840 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,589,045...79,649,644 		JBrowse link
G BMP2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 PMID:31843813 NCBI chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,195 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G C6 complement C6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr16:26,023,646...26,089,518
Ensembl chr16:26,020,628...26,084,652 		JBrowse link
G CASP3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 PMID:21335463 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr13:207,907,835...207,984,082
Ensembl chr13:207,940,948...207,982,938 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G CTC1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr12:53,427,807...53,454,149
Ensembl chr12:53,428,367...53,454,126 		JBrowse link
G CTNNB1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12148126 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936 		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 chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		JBrowse link
G FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 4:99,233,632...99,242,531
Ensembl chr 4:99,233,611...99,242,586 		JBrowse link
G FGF23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,038,740 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435 		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 chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433 		JBrowse link
G IL18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G ITGB1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr10:56,078,393...56,130,608
Ensembl chr10:56,078,396...56,173,326 		JBrowse link
G ITGB2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107 		JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148 		JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228 		JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463
G LSP1 lymphocyte specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 2:1,261,957...1,295,891
Ensembl chr 2:1,262,079...1,295,887 		JBrowse link
G LY86 lymphocyte antigen 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 7:4,108,124...4,156,629
Ensembl chr 7:4,108,118...4,156,625 		JBrowse link
G MGP matrix Gla protein ISO RGD PMID:15045141 RGD:1582501 NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22110751
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 Ensembl chr 5:8,986,462...9,007,435 JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350 		JBrowse link
G PYCARD PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 3:17,305,921...17,307,521
Ensembl chr 3:17,306,099...17,307,786 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr17:11,435,435...11,549,623
Ensembl chr17:11,435,442...11,486,581 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12803500 NCBI chr 2:8,809,547...8,817,124
Ensembl chr 2:8,802,349...8,817,337 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr 4:79,264,880...79,268,475
Ensembl chr 4:79,264,880...79,268,475 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161 		JBrowse link
G SPN sialophorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 3:17,978,731...17,982,222
Ensembl chr 3:17,978,801...17,982,864 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:		 RGD
CTD		 PMID:18390899 PMID:18422975 PMID:21193197 PMID:21335463 RGD:6903869 RGD:9068449 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 9:122,237,954...122,461,669
Ensembl chr 9:122,237,957...122,458,171 		JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,357...95,197,304 		JBrowse link
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083 		JBrowse link
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chr 2:66,192,785...66,208,417
Ensembl chr 2:66,193,197...66,207,697 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chr 2:6,563,093...6,564,281
Ensembl chr 2:6,563,091...6,564,274 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:40,105,500...40,118,743
Ensembl chr17:40,109,210...40,120,399 		JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747 		JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572 		JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,995,600...32,002,514
Ensembl chr13:31,995,595...32,002,470 		JBrowse link
G APEH acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,205,863...32,214,517
Ensembl chr13:32,205,609...32,214,518 		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 chr13:31,570,026...31,623,833
Ensembl chr13:31,570,088...31,625,226 		JBrowse link
G ARIH2OS ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,569,765...31,570,548 JBrowse link
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715 		JBrowse link
G BSN bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,106,967...32,203,461
Ensembl chr13:32,159,630...32,195,578 		JBrowse link
G C13H3orf62 chromosome 13 C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,840,281...31,848,825
Ensembl chr13:31,845,055...31,848,482 		JBrowse link
G C13H3orf84 chromosome 13 C3orf84 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,780,619...31,790,704
Ensembl chr13:31,780,277...31,792,782 		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 chr13:32,381,122...32,401,480
Ensembl chr13:32,381,128...32,392,987 		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 chr13:31,763,802...31,771,260
Ensembl chr13:31,767,495...31,771,218 		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 chr13:32,322,030...32,329,530
Ensembl chr13:32,322,034...32,329,337 		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 chr13:31,331,563...31,357,374
Ensembl chr13:31,331,574...31,357,469 		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 chr13:31,262,750...31,295,112 JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		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 chr13:31,650,880...31,656,320
Ensembl chr13:31,650,967...31,656,306 		JBrowse link
G DCLRE1C DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,053...46,868,028 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155 		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 chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794 		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 chr13:32,671,377...32,678,394
Ensembl chr13:32,671,432...32,678,391 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433 		JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,798,135...32,800,705
Ensembl chr13:32,797,681...32,800,793 		JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,793,784...32,794,650
Ensembl chr13:32,793,572...32,794,700 		JBrowse link
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,790,843...32,796,995
Ensembl chr13:32,790,850...32,796,563 		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 chr13:32,756,671...32,790,763
Ensembl chr13:32,756,680...32,790,672 		JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,802,963...31,836,911
Ensembl chr13:31,802,948...31,837,912 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,658,642...31,663,660
Ensembl chr13:31,658,650...31,663,552 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,663,812...31,714,523
Ensembl chr13:31,658,642...31,714,455 		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 chr13:32,329,872...32,332,167 JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,253,515...32,320,005
Ensembl chr13:32,253,515...32,319,988 		JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,379,516...31,406,989
Ensembl chr13:31,379,521...31,406,911 		JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,775,339...31,780,483
Ensembl chr13:31,775,694...31,780,484 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,738,282...31,750,623
Ensembl chr13:31,738,286...31,750,833 		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 chr13:32,752,515...32,757,042
Ensembl chr13:32,753,199...32,757,034 		JBrowse link
G MIR191 microRNA mir-191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,655,484...31,655,563
Ensembl chr13:31,655,484...31,655,563 		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 chr13:32,426,733...32,437,735
Ensembl chr13:32,426,736...32,437,862 		JBrowse link
G MST1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,214,934...32,220,045
Ensembl chr13:32,214,937...32,219,902 		JBrowse link
G MST1R macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,401,623...32,423,614
Ensembl chr13:32,409,555...32,421,920 		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 chr13:31,366,574...31,377,684
Ensembl chr13:31,363,765...31,377,672 		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 chr13:31,656,941...31,658,087
Ensembl chr13:31,656,948...31,659,220 		JBrowse link
G NICN1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,002,658...32,007,266
Ensembl chr13:32,002,660...32,007,217 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,627,230...31,642,251
Ensembl chr13:31,627,225...31,642,399 		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 chr13:31,212,553...31,259,785
Ensembl chr13:31,212,552...31,259,749 		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 chr13:31,427,786...31,517,005
Ensembl chr13:31,426,213...31,517,122 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,689...31,723,197 		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 chr13:32,579,780...32,612,716
Ensembl chr13:32,579,983...32,612,710 		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 chr13:32,444,944...32,569,818
Ensembl chr13:32,444,963...32,569,815 		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 chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969 		JBrowse link
G RNF123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,216,761...32,250,742
Ensembl chr13:32,218,384...32,250,739 		JBrowse link
G SEMA3B semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,737,100...32,749,633
Ensembl chr13:32,740,802...32,749,621 		JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223 		JBrowse link
G SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,180,844...31,205,724
Ensembl chr13:31,180,846...31,205,731 		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 chr13:31,523,820...31,553,289
Ensembl chr13:31,523,821...31,553,286 		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 chr13:31,319,287...31,330,649
Ensembl chr13:31,317,877...31,330,580 		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 chr13:32,683,131...32,699,803
Ensembl chr13:32,683,126...32,704,535 		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 chr13:31,991,408...31,995,274
Ensembl chr13:31,991,610...31,998,129 		JBrowse link
G TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,315,148...31,316,849
Ensembl chr13:31,315,737...31,316,740 		JBrowse link
G TRAIP TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,332,336...32,380,988
Ensembl chr13:32,345,599...32,379,766 		JBrowse link
G TREX1 three prime repair exonuclease 1 susceptibility ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant OMIM
ClinVar		 PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747 		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 chr13:32,330,536...32,341,300
Ensembl chr13:32,332,367...32,341,217 		JBrowse link
G UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,261,196...31,261,824
Ensembl chr13:31,261,196...31,261,534 		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 chr13:31,298,449...31,308,719
Ensembl chr13:31,298,449...31,309,516 		JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,726,668...31,738,135
Ensembl chr13:31,726,672...31,737,981 		JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,844,780...31,904,418
Ensembl chr13:31,848,851...31,904,243 		JBrowse link
G WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,642,207...31,651,367
Ensembl chr13:31,642,325...31,651,361 		JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969 		JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN3 actinin alpha 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,860,386...5,873,779
Ensembl chr 2:5,860,391...5,874,124 		JBrowse link
G ACY3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,932,836...4,938,249 JBrowse link
G AIP aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,042,883...5,048,885
Ensembl chr 2:5,041,990...5,048,781 		JBrowse link
G ALDH3B1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,868,561...4,889,179 JBrowse link
G ANKRD13D ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,194,010...5,207,057
Ensembl chr 2:5,193,153...5,206,993 		JBrowse link
G ANO1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,202,269...3,373,409
Ensembl chr 2:3,202,166...3,373,411 		JBrowse link
G AP5B1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,538,784...6,551,337
Ensembl chr 2:6,547,998...6,553,761 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817 		JBrowse link
G BANF1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,333,451...6,335,326
Ensembl chr 2:6,333,453...6,334,839 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,886,989...5,906,468
Ensembl chr 2:5,886,990...5,906,388 		JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,046,077...6,053,672
Ensembl chr 2:6,046,098...6,053,667 		JBrowse link
G C2H11orf24 chromosome 2 C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,682,204...4,692,016 JBrowse link
G C2H11orf68 chromosome 2 C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,411,946...6,414,286
Ensembl chr 2:6,411,833...6,414,280 		JBrowse link
G C2H11orf86 chromosome 2 C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,466,633...5,469,128
Ensembl chr 2:5,467,059...5,469,209 		JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,014,888...5,020,705
Ensembl chr 2:5,014,810...5,020,775 		JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,068,535...5,079,482
Ensembl chr 2:5,068,037...5,072,188 		JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,985...7,022,684 		JBrowse link
G CARNS1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,097,238...5,105,697
Ensembl chr 2:5,097,243...5,105,696 		JBrowse link
G CATSPER1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,312,906...6,321,690
Ensembl chr 2:6,312,906...6,321,690 		JBrowse link
G CCDC85B coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,436,787...6,437,828
Ensembl chr 2:6,436,794...6,437,808 		JBrowse link
G CCDC87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,833,431...5,838,922
Ensembl chr 2:5,833,464...5,836,686 		JBrowse link
G CCND1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CCS copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,819,471...5,833,263
Ensembl chr 2:5,819,472...5,836,064 		JBrowse link
G CD248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,070,885...6,073,518
Ensembl chr 2:6,070,910...6,073,509 		JBrowse link
G CDC42EP2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,897,497...6,904,040
Ensembl chr 2:6,895,847...6,904,040 		JBrowse link
G CDK2AP2 cyclin dependent kinase 2 associated protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,025,256...5,027,766
Ensembl chr 2:5,025,600...5,027,764 		JBrowse link
G CFL1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035 		JBrowse link
G CHKA choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,788,508...4,846,667
Ensembl chr 2:4,788,213...4,846,665 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,142,315...5,152,750
Ensembl chr 2:5,143,313...5,152,692 		JBrowse link
G CNIH2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,102,347...6,109,424 JBrowse link
G CORO1B coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,081,294...5,086,698
Ensembl chr 2:5,080,660...5,086,690 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,911 		JBrowse link
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,740...6,325,415 		JBrowse link
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,855,083...5,860,258
Ensembl chr 2:5,855,111...5,860,251 		JBrowse link
G CTSW cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,446,105...6,450,357
Ensembl chr 2:6,446,105...6,450,360 		JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,332...6,886,467 		JBrowse link
G DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,907,251...5,948,019
Ensembl chr 2:5,907,252...5,946,734 		JBrowse link
G DRAP1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,409,623...6,411,935
Ensembl chr 2:6,409,655...6,412,395 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,662,460...6,678,721
Ensembl chr 2:6,662,463...6,678,888 		JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,334,882...6,340,125
Ensembl chr 2:6,334,197...6,340,112 		JBrowse link
G FADD Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818 		JBrowse link
G FAM89B family with sequence similarity 89 member B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,680,832...6,682,506
Ensembl chr 2:6,681,490...6,682,511 		JBrowse link
G FGF19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,583,027...3,586,985
Ensembl chr 2:3,582,828...3,587,752 		JBrowse link
G FGF3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,009...3,497,533 		JBrowse link
G FGF4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,527,113...3,529,011
Ensembl chr 2:3,526,914...3,529,874 		JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,440,483...6,445,927
Ensembl chr 2:6,440,390...6,445,927 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,430,158...6,436,173
Ensembl chr 2:6,430,153...6,436,173 		JBrowse link
G FRMD8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,822,964...6,843,941
Ensembl chr 2:6,822,967...6,843,470 		JBrowse link
G GAL galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,351,113...4,357,167
Ensembl chr 2:4,351,113...4,356,647 		JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,297,797...6,306,200
Ensembl chr 2:6,297,855...6,306,198 		JBrowse link
G GPR152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,074,079...5,077,503
Ensembl chr 2:5,075,236...5,076,651 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525 		JBrowse link
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466 		JBrowse link
G KCNK7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,657,841...6,662,445
Ensembl chr 2:6,659,054...6,662,288 		JBrowse link
G KDM2A lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,238,690...5,357,799
Ensembl chr 2:5,240,312...5,357,829 		JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,117,236...6,127,048
Ensembl chr 2:6,116,429...6,126,951 		JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,110,438...6,116,443
Ensembl chr 2:6,102,354...6,116,221 		JBrowse link
G KMT5B lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,710,510...4,768,237
Ensembl chr 2:4,711,023...4,765,979 		JBrowse link
G LOC100522421 aldehyde dehydrogenase family 3 member B2-like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,910,123...4,928,559
Ensembl chr 2:4,920,068...4,928,554 		JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LRFN4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,576,625...5,579,397
Ensembl chr 2:5,576,622...5,580,009 		JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153 		JBrowse link
G LTO1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,607,605...3,615,621
Ensembl chr 2:3,607,600...3,615,616 		JBrowse link
G MAP3K11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,640,061...6,657,717
Ensembl chr 2:6,640,056...6,657,713 		JBrowse link
G MRGPRF MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,123,786...4,132,938
Ensembl chr 2:4,123,829...4,132,938 		JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,978,470...5,981,449
Ensembl chr 2:5,978,483...5,981,449 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,863,295...4,867,392
Ensembl chr 2:4,862,589...4,867,393 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216 		JBrowse link
G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,990,936...5,995,940
Ensembl chr 2:5,990,327...5,995,929 		JBrowse link
G NUDT8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,948,808...4,952,538 JBrowse link
G OVOL1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,526,679...6,538,992
Ensembl chr 2:6,526,671...6,538,921 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,138,345...6,277,309
Ensembl chr 2:6,138,351...6,174,632 		JBrowse link
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,566,608...5,587,797
Ensembl chr 2:5,518,517...5,587,797 		JBrowse link
G PCNX3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,619,213...6,639,933
Ensembl chr 2:6,619,215...6,639,953 		JBrowse link
G PELI3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,950,552...5,959,786
Ensembl chr 2:5,948,849...5,959,734 		JBrowse link
G PITPNM1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,028,889...5,042,302
Ensembl chr 2:5,028,935...5,044,295 		JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,922,384...6,950,289
Ensembl chr 2:6,922,387...6,950,179 		JBrowse link
G POLD4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,160,906...5,162,753
Ensembl chr 2:5,160,955...5,164,266 		JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,120,202...5,123,168
Ensembl chr 2:5,119,939...5,123,617 		JBrowse link
G PPP6R3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,394,670...4,523,421
Ensembl chr 2:4,394,675...4,523,411 		JBrowse link
G PTPRCAP protein tyrosine phosphatase receptor type C associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,087,203...5,089,359
Ensembl chr 2:5,087,256...5,089,359 		JBrowse link
G RAD9A RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,123,142...5,129,740
Ensembl chr 2:5,123,134...5,129,703 		JBrowse link
G RBM14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,776,535...5,784,337
Ensembl chr 2:5,776,539...5,784,337 		JBrowse link
G RBM14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,791,445...5,800,784
Ensembl chr 2:5,759,098...5,800,748 		JBrowse link
G RBM4B RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,745,364...5,758,177 JBrowse link
G RCE1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,587,853...5,595,408
Ensembl chr 2:5,588,546...5,593,142 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G RHOD ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,392,546...5,404,214
Ensembl chr 2:5,392,547...5,404,339 		JBrowse link
G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,053,875...6,061,051 JBrowse link
G RNASEH2C ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr 2:6,563,093...6,564,281
Ensembl chr 2:6,563,091...6,564,274 		JBrowse link
G RPS6KB2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,089,466...5,095,591
Ensembl chr 2:5,089,471...5,095,575 		JBrowse link
G SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,355,690...6,373,342
Ensembl chr 2:6,354,908...6,373,272 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,049...6,294,639 		JBrowse link
G SIPA1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,606,613...6,618,556
Ensembl chr 2:6,606,626...6,618,566 		JBrowse link
G SLC25A45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,851,101...6,857,886
Ensembl chr 2:6,851,617...6,857,880 		JBrowse link
G SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,027,287...6,036,280
Ensembl chr 2:6,027,287...6,036,280 		JBrowse link
G SNX32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,474,788...6,488,738
Ensembl chr 2:6,475,024...6,488,657 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,683,414...5,739,418
Ensembl chr 2:5,695,836...5,739,415 		JBrowse link
G SSH3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,185,480...5,193,875
Ensembl chr 2:5,185,503...5,193,155 		JBrowse link
G SYT12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,410,605...5,434,492
Ensembl chr 2:5,410,627...5,433,926 		JBrowse link
G TBC1D10C TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,112,462...5,118,829
Ensembl chr 2:5,112,467...5,121,061 		JBrowse link
G TBX10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,945,381...4,948,117
Ensembl chr 2:4,941,136...4,948,781 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498 		JBrowse link
G TESMIN testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,296,855...4,340,970
Ensembl chr 2:4,297,952...4,340,968 		JBrowse link
G TIGD3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,865,008...6,867,940
Ensembl chr 2:6,865,374...6,866,789 		JBrowse link
G TMEM134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,057,244...5,063,266
Ensembl chr 2:5,057,322...5,063,725 		JBrowse link
G TMEM151A transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,090,535...6,095,499
Ensembl chr 2:6,090,543...6,095,352 		JBrowse link
G TOP6BL TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,593,245...5,699,263
Ensembl chr 2:5,593,245...5,697,799 		JBrowse link
G TPCN2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,069,267...4,105,065
Ensembl chr 2:4,069,280...4,105,042 		JBrowse link
G TSGA10IP testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,374,617...6,391,457
Ensembl chr 2:6,374,617...6,387,718 		JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,898,414...4,909,833
Ensembl chr 2:4,898,409...4,909,856 		JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,097,749...6,101,965
Ensembl chr 2:6,095,877...6,102,037 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,874,509...5,883,525 JBrowse link
G ZNRD2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,680,832...6,684,564
Ensembl chr 2:6,683,057...6,684,494 		JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEST2 bestrophin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,242,820...66,248,908
Ensembl chr 2:66,242,999...66,248,784 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182 		JBrowse link
G CALR calreticulin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132 		JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,068,722...66,073,537 JBrowse link
G DHPS deoxyhypusine synthase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,303,375...66,307,773
Ensembl chr 2:66,303,370...66,307,769 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,105,393...66,114,867
Ensembl chr 2:66,105,429...66,118,191 		JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,290,847...66,297,215
Ensembl chr 2:66,291,172...66,297,213 		JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,087,421...66,089,578
Ensembl chr 2:66,087,453...66,090,710 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868 		JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,251,381...66,261,135
Ensembl chr 2:66,251,432...66,260,958 		JBrowse link
G HOOK2 hook microtubule tethering protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,227,562...66,239,671
Ensembl chr 2:66,227,601...66,244,828 		JBrowse link
G IER2 immediate early response 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,909,638...65,912,491
Ensembl chr 2:65,909,651...65,912,445 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002 		JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517 		JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,950,608...65,956,423
Ensembl chr 2:65,952,519...65,955,011 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,329,051...66,347,051
Ensembl chr 2:66,329,045...66,348,056 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,153,109...66,184,303
Ensembl chr 2:66,153,115...66,184,289 		JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,920,352...65,938,840
Ensembl chr 2:65,922,126...65,938,759 		JBrowse link
G NFIX nuclear factor I X ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,954,808...66,056,591
Ensembl chr 2:65,954,811...66,056,567 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,207,829...66,211,474
Ensembl chr 2:66,207,828...66,212,009 		JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,090,089...66,096,477
Ensembl chr 2:66,084,668...66,096,329 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition OMIM
ClinVar		 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 More... NCBI chr 2:66,192,785...66,208,417
Ensembl chr 2:66,193,197...66,207,697 		JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,188,077...66,191,434
Ensembl chr 2:66,188,089...66,193,654 		JBrowse link
G STX10 syntaxin 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,914,132...65,917,075
Ensembl chr 2:65,914,127...65,917,070 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,118,439...66,133,454
Ensembl chr 2:66,128,492...66,131,963 		JBrowse link
G TNPO2 transportin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,267,776...66,288,763
Ensembl chr 2:66,271,496...66,288,264 		JBrowse link
G TRIR telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,262,377...66,265,427
Ensembl chr 2:66,262,424...66,265,426 		JBrowse link
G TRMT1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,940,122...65,949,324
Ensembl chr 2:65,940,125...65,949,324 		JBrowse link
G WDR83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,307,652...66,312,839
Ensembl chr 2:66,307,653...66,312,844 		JBrowse link
G WDR83OS WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,312,920...66,328,000
Ensembl chr 2:66,325,992...66,328,004 		JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLCAP BLCAP apoptosis inducing factor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,603,977...40,633,613
Ensembl chr17:40,624,844...40,625,107 		JBrowse link
G CTNNBL1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,809,932...40,948,844
Ensembl chr17:40,774,720...40,949,022 		JBrowse link
G GHRH growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857 		JBrowse link
G MANBAL mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,420,745...40,449,657 JBrowse link
G MROH8 maestro heat like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,289,934...40,303,899 JBrowse link
G NNAT neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,625,990...40,629,523 JBrowse link
G RBL1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,201,214...40,279,318
Ensembl chr17:40,194,950...40,279,156 		JBrowse link
G RPN2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,322,364...40,378,866
Ensembl chr17:40,322,368...40,378,858 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:40,105,500...40,118,743
Ensembl chr17:40,109,210...40,120,399 		JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar		 PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,357...95,197,304 		JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083 		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 chr16:65,587,502...65,600,605
Ensembl chr16:65,590,120...65,600,566 		JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5H12orf57 chromosome 5 C12orf57 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr 5:63,779,510...63,781,307
Ensembl chr 5:63,779,513...63,781,517 		JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20A FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr12:11,606,469...11,663,086
Ensembl chr12:11,607,034...11,657,737 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373 		JBrowse link
Aortic Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162 		JBrowse link
G AGT angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 2:77,216,430...77,219,301
Ensembl chr 2:77,216,436...77,222,632 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595 		JBrowse link
G GRP gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr 1:161,708,815...161,721,986
Ensembl chr 1:161,708,812...161,721,782 		JBrowse link
G GSN gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848 		JBrowse link
G SOD1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G SOD2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G VKORC1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr 3:17,386,230...17,389,162
Ensembl chr 3:17,386,245...17,389,905 		JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 More... NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595 		JBrowse link
G GATA5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28387797 PMID:28492532 PMID:30675029 NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267 		JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition OMIM
ClinVar		 PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More...
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,656,887...164,735,704 		JBrowse link
G TBX20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More... NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,678,133 		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 3:28,260,935...28,356,706
Ensembl chr 3:28,261,214...28,356,706 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Idiopathic infantile arterial calcification ClinVar PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595 		JBrowse link
basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYORG myogenesis regulating glycosidase ISO OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr17:11,435,435...11,549,623
Ensembl chr17:11,435,442...11,486,581 		JBrowse link
Calcification of Aortic Valve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213
G CD40LG CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526 		JBrowse link
G MEIS2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chr 1:134,013,642...134,223,013
Ensembl chr 1:134,013,820...134,223,012 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 RGD:13207434 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G PTH parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chr17:52,017,100...52,086,747
Ensembl chr17:52,017,130...52,086,736 		JBrowse link
G SLC20A1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 3:43,844,716...43,860,547
Ensembl chr 3:43,844,722...43,860,547 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr12:53,427,807...53,454,149
Ensembl chr12:53,428,367...53,454,126 		JBrowse link
G STN1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:114,808,217...114,851,130
Ensembl chr14:114,810,201...114,851,025 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr12:53,427,807...53,454,149
Ensembl chr12:53,428,367...53,454,126 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr12:53,458,401...53,477,254 JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STN1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr14:114,808,217...114,851,130
Ensembl chr14:114,810,201...114,851,025 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890 		JBrowse link
Cole Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION ClinVar
OMIM		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595 		JBrowse link
Coronary Artery Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHACTR1 phosphatase and actin regulator 1 ISO DNA:SNP:intron: (rs12526453) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chr 7:9,105,422...9,666,886
Ensembl chr 7:9,105,874...9,666,881 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125 		JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPC centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 8:65,237,825...65,315,788
Ensembl chr 8:65,238,090...65,315,713 		JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		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 ISO OMIM:106400 MouseDO NCBI chr 7:39,217,974...39,234,683
Ensembl chr 7:39,218,051...39,234,685 		JBrowse link
Generalized Arterial Calcification of Infancy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN2 cellular communication network factor 2 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar
OMIM		 PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 More... NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595 		JBrowse link
G ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 1:31,859,180...31,932,617
Ensembl chr 1:31,859,960...31,959,837 		JBrowse link
G ZNF292 zinc finger protein 292 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar PMID:25741868 NCBI chr 1:55,615,250...55,713,103
Ensembl chr 1:55,616,957...55,710,827 		JBrowse link
Generalized Arterial Calcification of Infancy, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 OMIM
ClinVar		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr 3:28,260,935...28,356,706
Ensembl chr 3:28,261,214...28,356,706 		JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia OMIM
ClinVar		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759 		JBrowse link
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAM3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | ClinVar Annotator: match by term: JAM3-related condition OMIM
ClinVar		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chr 9:60,629,245...60,738,979
Ensembl chr 9:60,613,400...60,738,924 		JBrowse link
hereditary arterial and articular multiple calcification syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NT5E 5'-nucleotidase ecto ISO ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition OMIM
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 1:54,400,786...54,450,743
Ensembl chr 1:54,400,810...54,448,742 		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 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125 		JBrowse link
hyperphosphatemic familial tumoral calcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,038,740 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Cortical hyperostosis with hyperphosphatemia | ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome ClinVar PMID:15133511 PMID:20358599 PMID:25741868 PMID:28492532 NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435 		JBrowse link
G KL klotho ISO ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome ClinVar NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,603,260...62,648,170
Ensembl chr 5:62,603,260...62,648,201 		JBrowse link
G ACRBP acrosin binding protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,036,810...64,047,846
Ensembl chr 5:64,037,095...64,047,847 		JBrowse link
G ACSM4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 3:25,296,202...25,327,054
Ensembl chr 3:25,296,206...25,327,054 		JBrowse link
G ADIPOR2 adiponectin receptor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,755,789...68,807,247
Ensembl chr 5:68,755,811...68,807,235 		JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G AKAP3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,788,744...65,816,031
Ensembl chr 5:65,797,376...65,819,765 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,811,819...62,820,532
Ensembl chr 5:62,810,879...62,820,173 		JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648 		JBrowse link
G B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,772,347...67,861,000
Ensembl chr 5:67,772,426...67,860,989 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,623,398...63,640,065
Ensembl chr 5:63,627,313...63,640,057 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,670,309...63,681,466
Ensembl chr 5:63,670,312...63,708,214 		JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,088,778...63,098,750
Ensembl chr 5:63,088,778...63,098,750 		JBrowse link
G C5H12orf57 chromosome 5 C12orf57 homolog ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,779,510...63,781,307
Ensembl chr 5:63,779,513...63,781,517 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,454,459 		JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,805,092...68,899,397
Ensembl chr 5:68,808,378...68,906,249 		JBrowse link
G CCDC77 coiled-coil domain containing 77 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,725,757...67,756,516
Ensembl chr 5:67,725,834...67,760,049 		JBrowse link
G CCND2 cyclin D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498 		JBrowse link
G CD163L1 CD163 molecule-like 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,488,674...63,514,536 JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,197,594...64,202,236
Ensembl chr 5:64,196,994...64,202,613 		JBrowse link
G CD4 CD4 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519 		JBrowse link
G CD9 CD9 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,420,177...64,459,783
Ensembl chr 5:64,420,182...64,460,304 		JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,858,905...63,861,902
Ensembl chr 5:63,859,541...63,864,269 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,071,627...64,105,212
Ensembl chr 5:64,065,992...64,105,173 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,219,229...63,228,566 JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,572,062...63,612,177
Ensembl chr 5:63,572,065...63,599,525 		JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,970,543...63,977,470
Ensembl chr 5:63,957,064...63,977,424 		JBrowse link
G CRACR2A calcium release activated channel regulator 2A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:66,574,758...66,650,447
Ensembl chr 5:66,533,033...66,647,748 		JBrowse link
G DCP1B decapping mRNA 1B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,922,086...68,976,280
Ensembl chr 5:68,923,903...68,975,957 		JBrowse link
G DPPA3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,861,492...62,868,131 JBrowse link
G DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,815,063...65,877,804
Ensembl chr 5:65,812,243...65,870,092 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,746,326...63,751,469
Ensembl chr 5:63,745,476...63,751,469 		JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,930...63,809,410 		JBrowse link
G ERC1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,223,722...68,608,705
Ensembl chr 5:68,223,729...68,608,703 		JBrowse link
G FBXL14 F-box and leucine rich repeat protein 14 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,675,071...68,678,219
Ensembl chr 5:68,675,531...68,678,296 		JBrowse link
G FERRY3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,896,750...65,944,183
Ensembl chr 5:65,897,537...65,944,179 		JBrowse link
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,038,740 		JBrowse link
G FGF6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,975,807...65,990,035
Ensembl chr 5:65,975,838...65,990,029 		JBrowse link
G FKBP4 FKBP prolyl isomerase 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,314,010...67,321,628
Ensembl chr 5:67,313,480...67,322,028 		JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,061,978...63,087,689
Ensembl chr 5:63,061,978...63,085,037 		JBrowse link
G FOXM1 forkhead box M1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,246,219...67,263,215
Ensembl chr 5:67,245,694...67,263,211
Ensembl chr 5:67,245,694...67,263,211 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 OMIM
ClinVar		 PMID:3839626 PMID:3998061 PMID:5899975 PMID:8338191 PMID:9536098 More... NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435 		JBrowse link
G GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,697,120...65,735,521
Ensembl chr 5:65,696,868...65,735,536 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991 		JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,835,926...62,841,827
Ensembl chr 5:62,835,880...62,841,884 		JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,863,656...63,871,352
Ensembl chr 5:63,863,661...63,870,433 		JBrowse link
G GPR162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,885,710...63,891,436
Ensembl chr 5:63,885,715...63,891,219 		JBrowse link
G IFFO1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,115,695...64,129,832
Ensembl chr 5:64,116,150...64,129,274 		JBrowse link
G ING4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,027,789...64,036,671
Ensembl chr 5:64,027,855...64,036,773 		JBrowse link
G IQSEC3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,445,839...67,540,488
Ensembl chr 5:67,445,838...67,540,485 		JBrowse link
G ITFG2 integrin alpha FG-GAP repeat containing 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,292,901...67,306,208
Ensembl chr 5:67,291,772...67,305,607 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,556,837...65,565,880
Ensembl chr 5:65,561,962...65,565,116 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,439,336...65,442,207
Ensembl chr 5:65,439,336...65,442,207 		JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,625,581...65,659,557
Ensembl chr 5:65,657,225...65,658,835 		JBrowse link
G KDM5A lysine demethylase 5A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,628,791...67,716,143
Ensembl chr 5:67,629,380...67,715,905 		JBrowse link
G KL klotho ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228 		JBrowse link
G KLRG1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,506,001...62,523,969
Ensembl chr 5:62,507,507...62,523,810 		JBrowse link
G LAG3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,929,669...63,935,054
Ensembl chr 5:63,929,625...63,935,410 		JBrowse link
G LOC110258709 C-type lectin domain family 4 member A-like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098
G LOC110258710 C-type lectin domain family 4 member D-like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098
G LPAR5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,049,470...64,060,289
Ensembl chr 5:64,058,501...64,059,604 		JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,707,674...63,746,369
Ensembl chr 5:63,708,020...63,746,103 		JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,809,298...63,836,629
Ensembl chr 5:63,809,546...63,817,225 		JBrowse link
G LRTM2 leucine rich repeats and transmembrane domains 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,821,815...68,836,518
Ensembl chr 5:68,822,539...68,836,514 		JBrowse link
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,271,372...64,278,422
Ensembl chr 5:64,270,310...64,287,523 		JBrowse link
G M6PR mannose-6-phosphate receptor, cation dependent ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,537,751...62,557,674
Ensembl chr 5:62,537,700...62,557,688 		JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,742,520...62,757,522
Ensembl chr 5:62,742,319...62,757,519 		JBrowse link
G MLF2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,951,660...63,957,154
Ensembl chr 5:63,951,722...63,957,141 		JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,167,418...64,168,986
Ensembl chr 5:64,167,200...64,168,983 		JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,931,642...62,939,086
Ensembl chr 5:62,932,382...62,939,082 		JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,900,756...62,905,366 JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,136,505...64,167,410
Ensembl chr 5:64,136,505...64,167,410 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,760,078...65,788,703
Ensembl chr 5:65,759,727...65,788,646 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,122,280...63,135,550
Ensembl chr 5:63,122,335...63,139,664 		JBrowse link
G NOP2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,106,013...64,115,582
Ensembl chr 5:64,106,098...64,115,579 		JBrowse link
G NRIP2 nuclear receptor interacting protein 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,281,032...67,291,524
Ensembl chr 5:67,281,107...67,291,522 		JBrowse link
G NTF3 neurotrophin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,871,506...63,885,294
Ensembl chr 5:63,871,508...63,885,034 		JBrowse link
G PARP11 poly(ADP-ribose) polymerase family member 11 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:66,443,483...66,483,630
Ensembl chr 5:66,443,494...66,483,626 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,542,422...63,562,762
Ensembl chr 5:63,542,431...63,562,849 		JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,751,566...63,756,480
Ensembl chr 5:63,751,558...63,756,478 		JBrowse link
G PHC1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,557,774...62,580,640
Ensembl chr 5:62,557,776...62,580,651 		JBrowse link
G PIANP PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,992,618...63,999,435
Ensembl chr 5:63,992,685...63,999,438 		JBrowse link
G PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,331,467...64,350,680
Ensembl chr 5:64,332,066...64,350,710 		JBrowse link
G PRMT8 protein arginine methyltransferase 8 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:66,667,695...66,754,281
Ensembl chr 5:66,667,899...66,838,922 		JBrowse link
G PTMS parathymosin ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,937,092...63,942,112 JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350 		JBrowse link
G RAD51AP1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:65,872,277...65,897,210
Ensembl chr 5:65,872,539...65,897,212 		JBrowse link
G RAD52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,140,846...68,223,587
Ensembl chr 5:68,143,646...68,169,670 		JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,601,101...63,605,301
Ensembl chr 5:63,601,134...63,612,191 		JBrowse link
G RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,239,907...67,246,150
Ensembl chr 5:67,239,202...67,246,124 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,676,220...62,715,273
Ensembl chr 5:62,676,225...62,715,067 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:62,963,635...63,041,955 JBrowse link
G SLC6A12 solute carrier family 6 member 12 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,550,285...67,573,858
Ensembl chr 5:67,550,289...67,572,588 		JBrowse link
G SLC6A13 solute carrier family 6 member 13 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,574,149...67,617,513
Ensembl chr 5:67,577,197...67,614,054 		JBrowse link
G SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,836,785...63,839,075
Ensembl chr 5:63,836,766...63,839,250 		JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,188,184...64,197,033
Ensembl chr 5:64,188,179...64,197,264 		JBrowse link
G TEAD4 TEA domain transcription factor 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,130,392...67,167,579
Ensembl chr 5:67,118,317...67,194,072 		JBrowse link
G TIGAR TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:66,044,679...66,067,571
Ensembl chr 5:66,044,686...66,067,377 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,838,506...63,843,134 		JBrowse link
G TSPAN9 tetraspanin 9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:66,913,750...67,106,303
Ensembl chr 5:66,913,769...67,106,233 		JBrowse link
G TULP3 TUB like protein 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:67,201,680...67,238,348
Ensembl chr 5:67,199,448...67,238,322 		JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:63,843,742...63,858,835
Ensembl chr 5:63,843,745...63,858,716 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,181,496...64,188,275 JBrowse link
G VWF von Willebrand factor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,517,555...64,655,938 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,000,792...68,142,533
Ensembl chr 5:68,000,905...68,140,755 		JBrowse link
G WNT5B Wnt family member 5B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:68,627,158...68,731,938
Ensembl chr 5:68,627,185...68,732,265 		JBrowse link
G ZNF384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 5:64,003,468...64,025,798
Ensembl chr 5:64,003,216...64,025,796 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2 OMIM
ClinVar		 PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 More... NCBI chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,038,740 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KL klotho ISO ClinVar Annotator: match by term: KL-related condition | ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17710231 PMID:25741868 PMID:28492532 More... NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228 		JBrowse link
Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,725,880...11,739,949
Ensembl chr17:11,725,880...11,739,747 		JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,687,646...11,714,357
Ensembl chr17:11,687,557...11,722,183 		JBrowse link
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chr 1:126,620,468...126,641,406
Ensembl chr 1:126,620,510...126,641,406 		JBrowse link
G FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,928,327...11,953,139
Ensembl chr17:11,928,358...11,951,684 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,817,963...11,919,152
Ensembl chr17:11,818,031...11,923,196 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 Ensembl chr 5:8,986,462...9,007,435 JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647 		JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,777,942...11,817,920
Ensembl chr17:11,780,129...11,816,049 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Ferrocalcinosis, cerebrovascular | ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition OMIM
ClinVar		 PMID:10441584 PMID:11344012 PMID:11810290 PMID:15596772 PMID:16199547 More... NCBI chr17:11,435,435...11,549,623
Ensembl chr17:11,435,442...11,486,581 		JBrowse link
G SMIM19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 PMID:27726124 NCBI chr17:11,549,907...11,566,898
Ensembl chr17:11,549,937...11,566,898 		JBrowse link
G THAP1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,765,383...11,773,321
Ensembl chr17:11,765,149...11,772,620 		JBrowse link
Idiopathic Basal Ganglia Calcification 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:36443312 NCBI chr 3:128,903,395...128,917,873
Ensembl chr 3:128,903,616...128,917,871 		JBrowse link
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 OMIM
ClinVar		 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 More... NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647 		JBrowse link
Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 OMIM
ClinVar		 PMID:20301594 PMID:21409505 PMID:23913003 PMID:25211641 PMID:25741868 More... Ensembl chr 5:8,986,462...9,007,435 JBrowse link
Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XPR1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related condition | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification OMIM
ClinVar		 PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 NCBI chr 9:122,237,954...122,461,669
Ensembl chr 9:122,237,957...122,458,171 		JBrowse link
Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYORG myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 More... NCBI chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968 		JBrowse link
Idiopathic Basal Ganglia Calcification 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAM2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645 NCBI chr13:189,199,789...189,275,843
Ensembl chr13:189,165,975...189,275,839 		JBrowse link
Idiopathic Basal Ganglia Calcification 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 9, autosomal recessive ClinVar
OMIM		 PMID:38480682 NCBI chr 3:38,763,444...38,812,862
Ensembl chr 3:38,763,447...38,781,988 		JBrowse link
Idiopathic Basal Ganglia Calcification, Childhood Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset ClinVar PMID:25741868 PMID:28492532 NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083 		JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,678,757...63,686,409 JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,026,490...65,048,545
Ensembl chr 6:65,027,442...65,048,542 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,970,359...63,971,973 JBrowse link
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,242,725...65,254,879
Ensembl chr 6:65,242,602...65,255,727 		JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,804,914...63,819,960 JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,274,092...65,310,735
Ensembl chr 6:65,274,488...65,310,669 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,607,991...63,612,325 JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,160,760...64,169,663 JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505 		JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,351,593...63,356,690
Ensembl chr 6:63,351,602...63,356,466 		JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency OMIM
ClinVar		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208 		JBrowse link
G KLHL17 kelch like family member 17 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,320,898...63,328,093
Ensembl chr 6:63,322,184...63,328,259 		JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573 		JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897 		JBrowse link
G LRRC47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,261,990...65,271,745
Ensembl chr 6:65,260,793...65,271,729 		JBrowse link
G MEGF6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,055,533...65,141,449
Ensembl chr 6:65,053,389...65,141,380 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,307,703...63,320,799
Ensembl chr 6:63,307,695...63,335,201 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,328,054...63,336,140
Ensembl chr 6:63,328,605...63,336,138 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,287,449...63,308,231
Ensembl chr 6:63,287,713...63,308,482 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,255,792...65,259,129
Ensembl chr 6:65,255,823...65,259,126 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163 		JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666 		JBrowse link
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,150,897...65,154,311
Ensembl chr 6:65,150,903...65,154,429 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,155,201...65,167,091
Ensembl chr 6:65,155,209...65,167,079 		JBrowse link
Keutel Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGP matrix Gla protein ISO ClinVar Annotator: match by term: Keutel syndrome | ClinVar Annotator: match by term: MGP-related condition OMIM
ClinVar		 PM