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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
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Accession:DOID:0060681 term browser browse the term
Definition:A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. (DO)
Synonyms:exact_synonym: Adnfle;   ENFL;   autosomal dominant epilepsy;   nocturnal epilepsy, frontal lobe type;   nocturnal frontal lobe epilepsy
 primary_id: MESH:C579932
 alt_id: RDO:0015864
 xref: GARD:11918;   OMIM:PS600513;   ORDO:98784
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
autosomal dominant nocturnal frontal lobe epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16b abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,985,900...176,987,797
Ensembl chr 3:176,985,900...176,987,796 		JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103 		JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy
ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy		 ClinVar PMID:18414213 PMID:24950454 PMID:25741868 PMID:25847220 PMID:26467025 PMID:28492532 NCBI chr15:42,808,897...42,825,179
Ensembl chr15:42,808,897...42,825,179 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:7476881 PMID:7550350 PMID:7647781 PMID:8696332 PMID:8833159 PMID:9339675 PMID:10448807 PMID:10563623 PMID:10643924 PMID:10939581 PMID:10964949 PMID:11904236 PMID:12887446 PMID:14623738 PMID:18414213 PMID:18685138 PMID:19020039 PMID:19058950 PMID:19237585 PMID:19628475 PMID:20016990 PMID:21107856 PMID:21683344 PMID:21753767 PMID:22036597 PMID:22118295 PMID:22873564 PMID:22883468 PMID:24385388 PMID:25741868 PMID:25921748 PMID:26467025 PMID:26561946 PMID:28492532 PMID:29454195 PMID:29590070 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:11062464 PMID:11104662 PMID:11906688 PMID:17900292 PMID:18414213 PMID:18456869 PMID:20736995 PMID:21703448 PMID:22036597 PMID:25741868 PMID:26467025 PMID:28492532, PMID:11104662 RGD:737782 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785 		JBrowse link
G Crh corticotropin releasing hormone ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:16222669 PMID:23593457 PMID:24395520 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25741868 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464 		JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902 		JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282 		JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,721,100...176,724,736
Ensembl chr 3:176,721,827...176,725,837 		JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,756,006...176,791,960
Ensembl chr 3:176,753,860...176,791,960 		JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,730,024...176,744,382
Ensembl chr 3:176,731,769...176,744,377 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951 		JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,881,881...176,888,230
Ensembl chr 3:176,882,027...176,884,350 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:25741868 NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159 		JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:26467025 PMID:28492532 NCBI chr 6:127,075,954...127,127,985
Ensembl chr 6:127,075,954...127,127,413 		JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,698,305...176,706,896
Ensembl chr 3:176,698,305...176,706,896 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:10486327 PMID:10742094 PMID:11118488 PMID:12086636 PMID:14702334 PMID:14738421 PMID:18930999 PMID:20100831 PMID:20522430 PMID:21844054 PMID:21864321 PMID:23195492 PMID:24277604 PMID:25378155 PMID:25741868 PMID:27267376 PMID:28084635 PMID:28150151 PMID:28492532 PMID:28842445 PMID:29655203 PMID:29760947 PMID:30525188 PMID:30659983 PMID:31782251 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507 		JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,709,742...176,716,146
Ensembl chr 3:176,709,743...176,716,146 		JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,808,016...176,816,108
Ensembl chr 3:176,808,017...176,816,162 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:27541164 PMID:28492532 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384 		JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,989,333...177,009,425
Ensembl chr 3:176,989,672...177,008,419 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880 		JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:176,865,078...176,881,603
Ensembl chr 3:176,865,156...176,881,549 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 1
ClinVar Annotator: match by OMIM:600513		 OMIM
ClinVar		 PMID:7476881 PMID:7550350 PMID:7647781 PMID:7806245 PMID:8696332 PMID:8833159 PMID:9339675 PMID:10448807 PMID:10563623 PMID:10643924 PMID:10939581 PMID:11904236 PMID:12887446 PMID:14623738 PMID:18685138 PMID:19020039 PMID:19237585 PMID:19628475 PMID:20016990 PMID:21107856 PMID:21753767 PMID:22036597 PMID:22118295 PMID:22873564 PMID:22883468 PMID:24385388 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29590070 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3 OMIM
ClinVar		 PMID:11062464 PMID:11094099 PMID:11104662 PMID:11906688 PMID:17900292 PMID:18414213 PMID:18456869 PMID:20736995 PMID:21703448 PMID:22036597 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 6
ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610353		 OMIM
ClinVar
CTD		 PMID:16826524 PMID:18414213 PMID:19383498 PMID:24950454 PMID:25741868 PMID:25770198 PMID:25847220 PMID:26467025 PMID:28492532 NCBI chr15:42,808,897...42,825,179
Ensembl chr15:42,808,897...42,825,179 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5
ClinVar Annotator: match by OMIM:615005		 OMIM
ClinVar		 PMID:18414213 PMID:18479385 PMID:23086396 PMID:23086397 PMID:24029078 PMID:24319675 PMID:24463883 PMID:24591078 PMID:25042079 PMID:25326635 PMID:25326637 PMID:25482562 PMID:25590979 PMID:25741868 PMID:25985138 PMID:26122718 PMID:26140313 PMID:26269628 PMID:26369628 PMID:26467025 PMID:26597493 PMID:26648591 PMID:26740507 PMID:27064559 PMID:27081515 PMID:27652284 PMID:27779742 PMID:28492532 PMID:28987752 PMID:29186148 PMID:30182418 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5		 ClinVar PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 NCBI chr 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                autosomal dominant nocturnal frontal lobe epilepsy 29
                  autosomal dominant nocturnal frontal lobe epilepsy 1 1
                  autosomal dominant nocturnal frontal lobe epilepsy 2 0
                  autosomal dominant nocturnal frontal lobe epilepsy 3 1
                  autosomal dominant nocturnal frontal lobe epilepsy 4 1
                  autosomal dominant nocturnal frontal lobe epilepsy 5 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            epilepsy 1505
              focal epilepsy 155
                frontal lobe epilepsy 30
                  autosomal dominant nocturnal frontal lobe epilepsy 29
                    autosomal dominant nocturnal frontal lobe epilepsy 1 1
                    autosomal dominant nocturnal frontal lobe epilepsy 2 0
                    autosomal dominant nocturnal frontal lobe epilepsy 3 1
                    autosomal dominant nocturnal frontal lobe epilepsy 4 1
                    autosomal dominant nocturnal frontal lobe epilepsy 5 2
paths to the root