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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



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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 1:202,159,081...202,175,012 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 1:201,279,751...201,285,803 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 1:201,408,002...201,419,220 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 1:201,145,309...201,162,675 JBrowse link
G Aldh3b2 aldehyde dehydrogenase 3 family, member B2 ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 1:201,250,260...201,264,699 JBrowse link
G Aldh3b3 aldehyde dehydrogenase 3 family, member B3 ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 1:201,193,832...201,201,666 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 1:201,565,712...201,577,987 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 1:199,751,439...199,900,099 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 1:202,876,272...202,880,303 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 1:202,343,268...202,345,490 JBrowse link
G Banf1 barrier to autointegration nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 1:202,672,170...202,674,215 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 1:202,184,812...202,204,118 JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 1:202,734,555...202,736,809 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 1:202,345,766...202,355,028 JBrowse link
G C1h11orf24 similar to human chromosome 11 open reading frame 24 ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 1:200,945,188...200,953,953 JBrowse link
G C1h11orf86 similar to human chromosome 11 open reading frame 86 ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 1:201,784,009...201,785,916 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 1:201,374,649...201,380,469 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 1:201,428,671...201,442,950 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 1:212,705,219...212,736,134 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 1:201,459,061...201,470,019 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 1:202,643,009...202,652,059 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 1:202,763,645...202,764,660 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 1:202,135,021...202,137,717 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 1:209,518,288...209,527,986 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 1:202,113,792...202,134,931 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 1:202,373,676...202,376,240 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 1:203,202,000...203,210,891 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 1:201,391,056...201,393,137 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 1:212,227,124...212,230,656 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 1:210,506,069...210,554,753 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 1:201,507,763...201,517,607 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 1:211,828,791...211,834,474 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 1:201,442,977...201,448,416 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 1:209,993,881...210,056,329 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 1:202,655,322...202,657,030 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 1:202,152,777...202,158,525 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 1:202,772,395...202,777,021 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 1:212,612,986...212,628,376 JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 1:202,204,683...202,228,501 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 1:202,731,775...202,734,468 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 1:202,781,692...202,789,784 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 1:212,423,444...212,444,357 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 1:212,103,715...212,109,015 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 1:209,169,245...209,175,423 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 1:203,015,772...203,017,890 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 1:209,485,813...209,490,267 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 1:200,001,162...200,005,539 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 1:200,023,937...200,027,793 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 1:202,768,065...202,772,405 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 1:212,183,885...212,192,391 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 1:203,143,216...203,163,868 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 1:210,079,709...210,084,572 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 1:202,593,635...202,603,446 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 1:201,435,878...201,438,373 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 1:211,010,259...211,031,013 JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 1:210,767,237...210,770,242 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 1:200,506,641...200,529,293 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 1:212,325,089...212,332,640 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 1:202,988,801...202,992,842 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 1:201,612,427...201,682,359 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 1:202,414,555...202,424,787 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 1:210,429,672...210,479,042 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 1:201,888,569...201,891,861 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 1:200,814,247...200,917,581 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 1:203,029,412...203,045,975 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 1:209,502,900...209,510,237 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 1:212,404,685...212,417,986 JBrowse link
G Mrgprd MAS related GPR family member D ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 1:200,479,204...200,487,902 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 1:200,464,100...200,473,588 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 1:211,693,807...211,696,667 JBrowse link
G Mrpl21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 1:200,529,416...200,542,568 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 1:202,790,295...202,796,008 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 1:201,140,585...201,144,573 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 1:201,300,365...201,305,461 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 1:202,281,260...202,298,681 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 1:201,293,660...201,295,233 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 1:202,855,261...202,868,858 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 1:202,437,503...202,569,473 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 1:211,228,708...211,327,792 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 1:202,951,322...202,974,167 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 1:202,230,034...202,242,900 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 1:201,394,099...201,407,523 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 1:212,656,500...212,680,667 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 1:201,526,591...201,528,406 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 1:210,914,576...210,918,193 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 1:200,693,128...200,807,578 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 1:201,449,133...201,451,293 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 1:202,405,759...202,413,850 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 1:201,488,511...201,553,582 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 1:202,076,940...202,105,688 JBrowse link
G Rbm4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ClinVar PMID:28492532 NCBI chr 1:211,507,845...211,516,907 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 1:211,477,337...211,487,428 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 1:201,899,358...201,902,593 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 1:212,354,336...212,364,815 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 1:211,138,126...211,153,953 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 1:202,355,729...202,362,731 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 1:202,894,626...202,895,675 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 1:210,880,824...210,887,556 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 1:202,690,472...202,699,136 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 1:212,475,198...212,489,285 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 1:202,570,423...202,590,774 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 1:212,367,867...212,379,952 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 1:203,166,362...203,174,473 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 1:211,756,588...211,764,561 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 1:202,801,090...202,818,731 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 1:202,002,970...202,045,343 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 1:201,557,167...201,565,577 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 1:201,729,307...201,760,192 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 1:201,476,258...201,484,876 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 1:201,285,729...201,292,676 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 1:210,556,270...210,568,021 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 1:200,629,688...200,648,434 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 1:203,178,456...203,182,775 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 1:210,848,761...210,857,735 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 1:202,387,397...202,392,182 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 1:201,902,564...201,989,945 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 1:209,845,827...209,875,561 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 1:202,700,576...202,714,668 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 1:201,167,388...201,178,343 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 1:202,394,923...202,399,125 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 1:202,175,832...202,181,943 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 1:203,017,682...203,019,465 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      endocrine system disease 7037
        liver disease 3009
          Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 122
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        Congenital Abnormalities 7885
          Cardiovascular Abnormalities 1608
            Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 122
paths to the root