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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:frontal lobe epilepsy
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Accession:DOID:3331 term browser browse the term
Definition:A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain. (DO)
Synonyms:exact_synonym: Anterior Fronto-Polar Epilepsy;   Benign Frontal Childhood Epilepsy;   Cingulate Epilepsy;   Frontal Lobe Epilepsies;   Opercular Epilepsies;   Opercular Epilepsy;   Orbito-Frontal Epilepsies;   Orbito-Frontal Epilepsy;   anterior fronto-polar epilepsies;   cingulate epilepsies;   supplementary motor epilepsies;   supplementary motor epilepsy
 primary_id: MESH:D017034
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
frontal lobe epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12823585 PMID:14996991 PMID:17881519 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14996991 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23086396 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Slc4a10 solute carrier family 4 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18413482 NCBI chr 3:46,665,076...46,959,088
Ensembl chr 3:46,665,265...46,957,268 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy term browser
Symbol Object Name Qualifiers 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 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762 		JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933 		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 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914 		JBrowse link
G Bhlhe23 basic helix-loop-helix family, member e23 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223 		JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606 		JBrowse link
G Ccdc25 coiled-coil domain containing 25 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,055,368...40,087,758
Ensembl chr15:40,055,368...40,087,758 		JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr15:40,342,317...40,358,601
Ensembl chr15:40,342,317...40,358,601 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:3089211 PMID:7476881 PMID:7550350 PMID:7647781 PMID:8696332 More... NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy
ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy		 ClinVar
RGD		 PMID:9536098 PMID:11062464 PMID:11104662 PMID:11906688 PMID:16199547 More... RGD:737782 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Crh corticotropin releasing hormone ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:23086396 PMID:23593457 PMID:24395520 PMID:25741868 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:23542697 PMID:24283814 PMID:24814846 PMID:25366275 PMID:25741868 More... NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218 		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 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935 		JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Elp3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,754,635...39,816,482
Ensembl chr15:39,754,632...39,816,445 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615 		JBrowse link
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306 		JBrowse link
G Extl3 exostosin-like glycosyltransferase 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,294,033...39,384,086
Ensembl chr15:39,293,605...39,338,898 		JBrowse link
G Fbxo16 F-box protein 16 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,492,268...39,541,493
Ensembl chr15:39,492,377...39,541,480 		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 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,421,366...39,488,369
Ensembl chr15:39,421,355...39,488,369 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:33391346 NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Gid8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814 		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 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788 		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 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar NCBI chr 1:236,043,269...236,084,617
Ensembl chr 1:236,042,954...236,084,616 		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 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127 		JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:28492532 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Nkain4 Sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925 		JBrowse link
G Nuggc nuclear GTPase, germinal center associated ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,821,851...39,866,122
Ensembl chr15:39,821,855...39,866,122 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:25741868 NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
G Pbk PDZ binding kinase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,022,873...40,034,014
Ensembl chr15:40,023,002...40,034,014 		JBrowse link
G Pnoc prepronociceptin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,624,635...39,652,463
Ensembl chr15:39,624,641...39,651,867 		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:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26339676 PMID:26467025 More... NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921 		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 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664 		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 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Scara3 scavenger receptor class A, member 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,139,873...40,172,866
Ensembl chr15:40,140,161...40,172,894 		JBrowse link
G Scara5 scavenger receptor class A, member 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,880,017...39,985,007
Ensembl chr15:39,880,035...39,983,373 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:9536098 PMID:10486327 PMID:10742094 PMID:11118488 PMID:11940708 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Slc17a9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985 		JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:168,493,975...168,497,616 JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:25865495 PMID:27959697 PMID:28191889 PMID:28492532 PMID:34006619 NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293 		JBrowse link
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 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915 		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 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:23161826 PMID:25741868 PMID:26989088 PMID:28492532 NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:3402014 PMID:27541164 PMID:28492532 PMID:28663785 PMID:31112829 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282 		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 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172 		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 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782 		JBrowse link
G Zfp395 zinc finger protein 395 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,581,603...39,621,911
Ensembl chr15:39,608,080...39,619,950 		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 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit susceptibility ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:7476881 PMID:7550350 PMID:7647781 PMID:8696332 PMID:8833159 More... NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 1 ClinVar PMID:11062464 PMID:11104662 PMID:17900292 PMID:18456869 PMID:22036597 More... NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO
ISS		 ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3
OMIM:605375
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11062464 PMID:11094099 PMID:11104662 PMID:11906688 More... NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr15:40,342,317...40,358,601
Ensembl chr15:40,342,317...40,358,601 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 5 term browser
Symbol Object Name Qualifiers 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 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537 		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 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		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 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321 		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 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495 		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 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072 		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 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		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 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194 		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 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018 		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 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161 		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 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355 		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 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363 		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 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879 		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 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		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 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688 		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 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260 		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 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827 		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 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		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 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18479385 PMID:20301348 More... NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918 		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 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		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 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180 		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 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660 		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 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		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 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866 		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 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521 		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 3:8,392,926...8,394,325 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 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		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 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		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 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664 		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 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611 		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 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546 		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 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273 		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 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		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 chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368 		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 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491 		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 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349 		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 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443 		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 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        central nervous system disease 12398
          brain disease 11634
            epilepsy 2803
              focal epilepsy 370
                frontal lobe epilepsy 107
                  autosomal dominant nocturnal frontal lobe epilepsy + 106
paths to the root