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
Accession: DOID:9003840
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:32350755 More...
NCBI chr 1:209,169,245...209,175,423
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all