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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:Faundes-Banka Syndrome
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Accession:DOID:9003915 term browser browse the term
Definition:An autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features. Caused by heterozygous mutation in the EIF5A gene on chromosome 17p13. (OMIM)
Synonyms:exact_synonym: FABAS
 primary_id: MIM:619376



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Faundes-Banka Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,231,558...55,236,786
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,274,299...55,278,323
Ensembl chr10:54,776,024...54,779,631
JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,320,082...55,333,294
Ensembl chr10:54,821,438...54,834,617
JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,188,670...55,190,871
Ensembl chr10:54,689,987...54,692,171
JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,203,047...55,212,469
Ensembl chr10:54,704,148...54,713,781
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,239,397...55,267,780
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,222,245...55,231,506
Ensembl chr10:54,723,411...54,732,820
JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Faundes-Banka syndrome OMIM
ClinVar
PMID:25741868 PMID:31690835 PMID:33547280 NCBI chr10:55,138,821...55,143,272
Ensembl chr10:54,640,024...54,644,656
JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,191,223...55,202,949
Ensembl chr10:54,692,530...54,704,923
JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765
JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,136,043...55,139,106
Ensembl chr10:54,637,455...54,640,650
JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,123,471...55,135,971
Ensembl chr10:54,625,642...54,637,258
JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,164,721...55,170,289
Ensembl chr10:54,666,015...54,671,565
JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,158,420...55,164,077
Ensembl chr10:54,659,719...54,665,371
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    syndrome 11377
      Faundes-Banka Syndrome 15
Path 2
Term Annotations click to browse term
  disease 19142
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13716
        genetic disease 13381
          monogenic disease 10939
            autosomal genetic disease 10426
              autosomal dominant disease 6784
                complex cortical dysplasia with other brain malformations 1645
                  Malformations of Cortical Development, Group I 1401
                    microcephaly 1147
                      Faundes-Banka Syndrome 15
paths to the root