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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:CHARGE syndrome
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Accession:DOID:0050834 term browser browse the term
Definition:A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. (DO)
Synonyms:exact_synonym: CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies;   CHARGE Associations;   CHARGE Syndromes;   CHARGE association;   HHS;   Hall Hittner syndrome;   familial CHARGE syndrome;   familial CHARGE syndromes
 primary_id: MESH:D058747
 alt_id: OMIM:214800
 xref: GARD:29;   NCI:C75100;   ORDO:138


show annotations for term's descendants           Sort by:
CHARGE syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate-beta-hydroxylase ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:18413373 PMID:19772954 PMID:22258531 PMID:22902603 PMID:28492532 NCBI chr 5:22,603,879...22,814,107
Ensembl chr 5:22,603,486...22,813,876 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:altered localization:brain: RGD PMID:22658483 RGD:9068442 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 NCBI chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969 		JBrowse link
G Car8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:18413373 PMID:19772954 PMID:22258531 PMID:22902603 PMID:28492532 NCBI chr 5:21,302,940...21,402,395
Ensembl chr 5:21,305,383...21,402,374 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISS OMIM:214800 MouseDO NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO DNA:nonsense mutation:exon:p.S1897X (c.5690C>A) (mouse)
DNA:missense mutations:exon:p.Q1214R (c.3641A>G), p.L1302P (c.3905T>C), p.V1742D (c.5225T>A) (human)
DNA:missense mutation, SNP:exon, 5' utr:p.L979P (c.2936T>C), c.-66C>T (human)
DNA:nonsense mutations, splice-site mutations: :multiple
DNA:missense mutations: :p.W983G, p.D1596G, p.R2319C (human)
DNA:missense mutations: :p.C1588W (c.4764T>G), (p.D1825N (c.5473G>A) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: Hall-Hittner syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:7651832 PMID:9536098 PMID:10590394 PMID:14626219 PMID:15300250 More... RGD:11535032, RGD:11067078, RGD:11535040, RGD:11535041, RGD:11535048, RGD:11535050, RGD:11535051 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Clvs1 clavesin 1 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:18413373 PMID:19772954 PMID:22258531 PMID:22902603 PMID:28492532 NCBI chr 5:22,408,384...22,604,281
Ensembl chr 5:22,408,384...22,604,270 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hall-Hittner syndrome ClinVar PMID:29300383 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Hgf hepatocyte growth factor ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 PMID:29300383 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:29300383 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Pclo piccolo (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:25741868 PMID:29300383 NCBI chr 7:107,782,770...107,793,814
Ensembl chr 7:107,782,770...107,794,531 		JBrowse link
G Rab2a RAB2A, member RAS oncogene family ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:18413373 PMID:19772954 PMID:22258531 PMID:22902603 PMID:28492532 NCBI chr 5:21,676,219...21,738,833
Ensembl chr 5:21,676,129...21,739,899 		JBrowse link
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930 		JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:9536098 PMID:15235037 PMID:16199547 PMID:17576681 PMID:25640679 More... NCBI chr 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: CHARGE association ClinVar NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tp53 tumor protein p53 ISS OMIM:214800 MouseDO NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:25741868 PMID:30711679 NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      CHARGE syndrome 20
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        Congenital Abnormalities 7506
          Multiple Abnormalities 3708
            CHARGE syndrome 20
paths to the root