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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:autosomal dominant nocturnal frontal lobe epilepsy 5
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Accession:DOID:0060686 term browser browse the term
Definition:An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: ENFL5;   Epilepsy, Nocturnal Frontal Lobe, 5;   Epilepsy, Nocturnal Frontal Lobe, Type 5
 primary_id: MIM:615005;   RDO:9000290


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autosomal dominant nocturnal frontal lobe epilepsy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,610,906...48,630,932
Ensembl chr 9:48,613,996...48,629,857 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,864,300...48,877,627
Ensembl chr 9:48,864,376...48,877,620 		JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,738,344...48,744,604 JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,672,332...48,674,190
Ensembl chr 9:48,672,333...48,673,854 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,458,701...49,523,056
Ensembl chr 9:49,458,694...49,521,332 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591 		JBrowse link
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,768,012...48,775,191 JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,634,061...48,637,083
Ensembl chr 9:48,634,878...48,637,015 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,836,323...48,844,827
Ensembl chr 9:48,837,035...48,845,482 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,120,802...49,122,789
Ensembl chr 9:49,120,818...49,122,804 		JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,554,062...48,557,752
Ensembl chr 9:48,554,077...48,557,746 		JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,722,918...48,726,358
Ensembl chr 9:48,722,658...48,731,723 		JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,878,075...48,890,002
Ensembl chr 9:48,878,075...48,895,541 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,083,368...49,089,608
Ensembl chr 9:49,083,499...49,089,023 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,674,299...48,678,846
Ensembl chr 9:48,673,456...48,679,128 		JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,604,879...48,609,292
Ensembl chr 9:48,606,435...48,609,303 		JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,124,828...49,152,079
Ensembl chr 9:49,118,627...49,152,208 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18479385 More... NCBI chr 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633 		JBrowse link
G LCN10 lipocalin 10 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,806,874...48,810,266 JBrowse link
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,663,181...48,669,264
Ensembl chr 9:48,665,943...48,668,859 		JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,784,995...48,789,272
Ensembl chr 9:48,769,526...48,794,188 		JBrowse link
G LCN6 lipocalin 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,800,699...48,805,946 JBrowse link
G LCN8 lipocalin 8 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,789,948...48,796,002
Ensembl chr 9:48,769,526...48,794,188 		JBrowse link
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,643,845...48,647,187 JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
G LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,533,962...48,545,514
Ensembl chr 9:48,533,962...48,545,344 		JBrowse link
G LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,528,738...48,532,888 JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,726,392...48,736,173
Ensembl chr 9:48,727,523...48,734,820 		JBrowse link
G MIR126 microRNA mir-126 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,879,438...48,879,496
Ensembl chr 9:48,879,432...48,879,504 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,323,613...49,393,017
Ensembl chr 9:49,363,280...49,389,508 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,596,398...48,601,327
Ensembl chr 9:48,596,398...48,611,437 		JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,637,735...48,639,289
Ensembl chr 9:48,637,731...48,639,239 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,736,310...48,737,771
Ensembl chr 9:48,736,333...48,737,725 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,073,124...49,083,302
Ensembl chr 9:49,073,108...49,224,961 		JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,647,334...48,650,608
Ensembl chr 9:48,646,255...48,669,814 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,213,295...49,245,164
Ensembl chr 9:49,213,295...49,245,176 		JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,746,363...48,767,529
Ensembl chr 9:48,594,845...48,770,844 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,571,045...48,578,517
Ensembl chr 9:48,570,891...48,594,452 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,027,190...49,060,858
Ensembl chr 9:49,031,669...49,060,848 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,090,615...49,110,763
Ensembl chr 9:49,091,636...49,110,767 		JBrowse link
G SPAG1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 More... NCBI chr13:2,065,726...2,127,199 JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,777,694...48,779,518
Ensembl chr 9:48,777,958...48,779,448 		JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,308,397...49,311,360
Ensembl chr 9:49,308,350...49,311,487 		JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:48,688,071...48,713,936
Ensembl chr 9:48,689,331...48,703,633 		JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 9:49,423,924...49,444,589
Ensembl chr 9:49,423,408...49,444,585 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    Developmental Disease 13766
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12845
        genetic disease 12543
          monogenic disease 10726
            autosomal genetic disease 10265
              autosomal dominant disease 6689
                autosomal dominant nocturnal frontal lobe epilepsy 114
                  autosomal dominant nocturnal frontal lobe epilepsy 5 49
Path 2
Term Annotations click to browse term
  disease 15757
    disease of anatomical entity 15377
      nervous system disease 13506
        central nervous system disease 12077
          brain disease 11341
            epilepsy 2903
              focal epilepsy 388
                frontal lobe epilepsy 115
                  autosomal dominant nocturnal frontal lobe epilepsy 114
                    autosomal dominant nocturnal frontal lobe epilepsy 5 49
paths to the root