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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:Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
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Accession:DOID:9003840 term browser browse the term
Synonyms:exact_synonym: FADD deficiency;   IMD90;   INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS;   immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction
 primary_id: MIM:613759


show annotations for term's descendants           Sort by:
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN3 actinin alpha 3 ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 2:5,886,989...5,906,468
Ensembl chr 2:5,886,990...5,906,388 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:11157798 PMID:11410501 PMID:11504767 PMID:12827452 PMID:14534301 More... NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 2:6,102,347...6,109,424 JBrowse link
G CORO1B coronin 1B ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: FADD DEFICIENCY | ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations OMIM
ClinVar		 PMID:21109225 PMID:25326637 PMID:25741868 PMID:25794656 PMID:28492532 More... 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 2:6,117,236...6,127,048
Ensembl chr 2:6,116,429...6,126,951 		JBrowse link
G KMT5B lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 2:5,087,203...5,089,359
Ensembl chr 2:5,087,256...5,089,359 		JBrowse link
G RAB1B RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 2:6,110,438...6,116,443
Ensembl chr 2:6,102,354...6,116,221 		JBrowse link
G RAD9A RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 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: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 2:6,680,832...6,684,564
Ensembl chr 2:6,683,057...6,684,494 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15425
    disease of anatomical entity 15095
      endocrine system disease 6221
        liver disease 2821
          Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 120
Path 2
Term Annotations click to browse term
  disease 15425
    Developmental Disease 13485
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12608
        Congenital Abnormalities 7616
          Cardiovascular Abnormalities 1576
            Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 120
paths to the root