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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 (RNF111) C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,615,759...39,742,492
Ensembl chr18:43,244,066...43,274,212 		JBrowse link
G ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,455,256...39,548,926
Ensembl chr18:42,990,152...43,082,789 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326 		JBrowse link
G ELOA2 elongin A2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:40,418,709...40,422,812 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 chr18:39,129,678...39,250,418
Ensembl chr18:42,669,223...42,788,788 		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 chr18:39,386,522...39,409,747
Ensembl chr18:42,922,570...42,945,766 		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 chr18:40,495,385...40,538,527
Ensembl chr18:43,855,696...43,898,765 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 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 chr18:40,543,039...40,564,372
Ensembl chr18:43,903,315...43,924,901 		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 chr18:40,196,170...40,492,175
Ensembl chr18:43,758,249...43,850,517 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921 		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 chr18:40,067,901...40,196,078
Ensembl chr18:43,622,455...43,728,675 		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 chr18:39,265,559...39,364,422
Ensembl chr18:42,804,773...42,892,493 		JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453 		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 chr18:39,111,697...39,125,631
Ensembl chr18:42,658,534...42,663,773 		JBrowse link
G SKOR2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:40,594,124...40,639,720 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 chr18:39,007,475...39,035,489
Ensembl chr18:42,550,210...42,575,723 		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 chr18:38,766,994...38,966,124
Ensembl chr18:42,448,067...42,506,485 		JBrowse link
G SMAD2 SMAD family member 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530 		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 chr18:39,958,239...40,036,282
Ensembl chr18:43,492,025...43,569,857 		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 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 OMIM
ClinVar		 PMID:16972080 PMID:21835305 PMID:22991235 PMID:23771172 PMID:24138066 More... NCBI chr18:40,543,039...40,564,372
Ensembl chr18:43,903,315...43,924,901 		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 chr 5:139,557,911...139,570,364
Ensembl chr 5:145,612,807...145,625,280 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      Microcephaly, Epilepsy, and Diabetes Syndrome 20
        Microcephaly, Epilepsy, and Diabetes Syndrome 1 1
        Microcephaly, Epilepsy, and Diabetes Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            autosomal genetic disease 9441
              autosomal dominant disease 6185
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group I 1362
                    microcephaly 1119
                      Microcephaly, Epilepsy, and Diabetes Syndrome 20
                        Microcephaly, Epilepsy, and Diabetes Syndrome 1 1
                        Microcephaly, Epilepsy, and Diabetes Syndrome 2 1
paths to the root