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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:immunodeficiency-centromeric instability-facial anomalies syndrome
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Accession:DOID:0090007 term browser browse the term
Definition:A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. (DO)
Synonyms:exact_synonym: ICF syndrome;   centromeric instability, immunodeficiency syndrome;   immunodeficiency syndrome, variable
 primary_id: MESH:C537362
 xref: OMIM:PS242860;   ORDO:2268
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency-centromeric instability-facial anomalies syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ClinVar PMID:28492532 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Commd7 COMM domain containing 7 ISO ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ClinVar PMID:28492532 NCBI chr 3:149,101,242...149,115,227
Ensembl chr 3:149,101,243...149,115,209
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1
ClinVar Annotator: match by term: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
ClinVar Annotator: match by OMIM:242860
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation: :multiple
OMIM
ClinVar
CTD
PMID:3361388, PMID:10555141, PMID:10588719, PMID:10647011, PMID:11102980, PMID:11741835, PMID:11919202, PMID:12239717, PMID:12925568, PMID:15580563, PMID:15952214, PMID:16543361, PMID:17893117, PMID:17908720, PMID:18029387, PMID:18762900, PMID:23486536, PMID:24033266, PMID:24577265, PMID:25741868, PMID:26851945, PMID:27153398, PMID:28454995, PMID:28492532, PMID:29255178, PMID:10647011 RGD:1601084 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ClinVar PMID:28492532 NCBI chr 3:148,772,937...148,813,342
Ensembl chr 3:148,773,259...148,813,293
JBrowse link
G Nol4l nucleolar protein 4-like ISO ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ClinVar PMID:28492532 NCBI chr 3:148,905,677...148,940,426
Ensembl chr 3:148,909,826...148,932,878
JBrowse link
G Pofut1 protein O-fucosyltransferase 1 ISO ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ClinVar PMID:28492532 NCBI chr 3:148,722,864...148,749,743
Ensembl chr 3:148,722,955...148,747,208
JBrowse link
immunodeficiency-centromeric instability-facial anomalies syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 ClinVar PMID:28492532 NCBI chr20:46,199,981...46,211,930
Ensembl chr20:46,199,981...46,211,930
JBrowse link
G Zbtb24 zinc finger and BTB domain containing 24 ISO ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2
ClinVar Annotator: match by OMIM:614069
OMIM
ClinVar
PMID:21596365, PMID:21906047, PMID:25741868, PMID:28492532, PMID:29255178 NCBI chr20:46,168,149...46,189,806
Ensembl chr20:46,168,177...46,189,806
JBrowse link
immunodeficiency-centromeric instability-facial anomalies syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca7 cell division cycle associated 7 ISO ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 3 ClinVar
OMIM
PMID:1999836, PMID:15952214, PMID:21596365, PMID:26216346 NCBI chr 3:59,153,281...59,163,916
Ensembl chr 3:59,153,280...59,163,913
JBrowse link
immunodeficiency-centromeric instability-facial anomalies syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hells helicase, lymphoid specific ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
ClinVar Annotator: match by OMIM:616911
ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 4
ClinVar
OMIM
PMID:21596365, PMID:26216346 NCBI chr 1:257,901,856...257,953,889
Ensembl chr 1:257,766,691...257,949,183
Ensembl chr 1:257,766,691...257,949,183
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      immunodeficiency-centromeric instability-facial anomalies syndrome 10
        immunodeficiency-centromeric instability-facial anomalies syndrome 1 6
        immunodeficiency-centromeric instability-facial anomalies syndrome 2 2
        immunodeficiency-centromeric instability-facial anomalies syndrome 3 1
        immunodeficiency-centromeric instability-facial anomalies syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                immunodeficiency-centromeric instability-facial anomalies syndrome 10
                  immunodeficiency-centromeric instability-facial anomalies syndrome 1 6
                  immunodeficiency-centromeric instability-facial anomalies syndrome 2 2
                  immunodeficiency-centromeric instability-facial anomalies syndrome 3 1
                  immunodeficiency-centromeric instability-facial anomalies syndrome 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.