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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:Microcephaly, Epilepsy, and Diabetes Syndrome
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Accession:DOID:9002791 term browser browse the term
Synonyms:exact_synonym: MEDS
 xref: OMIM:PS614231


show annotations for term's descendants           Sort by:
Microcephaly, Epilepsy, and Diabetes Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ark2c arkadia C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,984,566...71,100,836
Ensembl chr18:70,989,731...71,100,836 		JBrowse link
G Ark2n arkadia N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,155,956...71,243,655
Ensembl chr18:71,157,700...71,243,482 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502 		JBrowse link
G Haus1 HAUS augmin-like complex, subunit 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,275,417...71,286,626
Ensembl chr18:71,273,537...71,286,660 		JBrowse link
G Hdhd2 haloacid dehalogenase-like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,475,037...70,526,471
Ensembl chr18:70,474,926...70,526,470 		JBrowse link
G Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:9536098 PMID:16972080 PMID:17576681 PMID:21835305 PMID:22991235 More... NCBI chr 4:132,331,372...132,342,316
Ensembl chr 4:132,332,180...132,342,316 		JBrowse link
G Katnal2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,531,759...70,607,886
Ensembl chr18:70,531,754...70,608,082 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,818,276...70,969,983
Ensembl chr18:70,818,276...70,969,983 		JBrowse link
G Pias2 protein inhibitor of activated STAT, 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,608,034...70,714,295
Ensembl chr18:70,607,665...70,710,033 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Siglec15 sialic acid binding Ig-like lectin 15 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,507,773...71,521,722
Ensembl chr18:71,505,399...71,521,881 		JBrowse link
G Skor2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,404,431...70,446,330
Ensembl chr18:70,404,489...70,440,342 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
G St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,736,632...70,802,537
Ensembl chr18:70,736,602...70,797,789 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 ClinVar
OMIM		 PMID:16972080 PMID:21835305 PMID:22991235 PMID:23771172 PMID:24138066 More... NCBI chr 4:132,331,372...132,342,316
Ensembl chr 4:132,332,180...132,342,316 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yipf5 Yip1 domain family, member 5 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:33164986 NCBI chr18:32,123,814...32,159,752
Ensembl chr18:32,123,842...32,157,642 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Microcephaly, Epilepsy, and Diabetes Syndrome 19
        Microcephaly, Epilepsy, and Diabetes Syndrome 1 1
        Microcephaly, Epilepsy, and Diabetes Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        genetic disease 18183
          monogenic disease 10160
            autosomal genetic disease 9299
              autosomal dominant disease 6170
                complex cortical dysplasia with other brain malformations 1575
                  Malformations of Cortical Development, Group I 1362
                    microcephaly 1117
                      Microcephaly, Epilepsy, and Diabetes Syndrome 19
                        Microcephaly, Epilepsy, and Diabetes Syndrome 1 1
                        Microcephaly, Epilepsy, and Diabetes Syndrome 2 1
paths to the root