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
Accession: DOID:9003915
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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