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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:X-linked epilepsy with variable learning disabilities and behavior disorders
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Accession:DOID:0112122 term browser browse the term
Definition:An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in SYN1 on chromosome Xp11.3-p11.2. (DO)
Synonyms:exact_synonym: EPILX;   X-linked epilepsy-learning disabilities-behavior disorders syndrome
 primary_id: MESH:C564505
 alt_id: OMIM:300491
 xref: ORDO:85294
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked epilepsy with variable learning disabilities and behavior disorders term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073
JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148
JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,668,873...1,848,781
Ensembl chr  X:1,669,930...1,845,138
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062
JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575
JBrowse link
G Rgn regucalcin ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,619,030...1,634,456
Ensembl chr  X:1,619,032...1,634,450
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688
JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome OMIM
ClinVar
PMID:9536098 PMID:14985377 PMID:15071120 PMID:16199547 PMID:17576681 More... NCBI chr  X:1,172,208...1,227,400
Ensembl chr  X:1,172,208...1,227,396
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,508,700...1,530,677
Ensembl chr  X:1,508,666...1,530,636
JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,473,349...1,489,520
Ensembl chr  X:1,473,350...1,489,520
JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
JBrowse link
G Zfp819 zinc finger protein 819 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr 1:94,027,347...94,085,649
Ensembl chr 1:94,035,679...94,048,760
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Neurodevelopmental Disorders 6142
        learning disability 155
          X-linked epilepsy with variable learning disabilities and behavior disorders 13
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            disease of mental health 7489
              developmental disorder of mental health 4860
                specific developmental disorder 4124
                  communication disorder 301
                    learning disability 155
                      X-linked epilepsy with variable learning disabilities and behavior disorders 13
paths to the root