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ONTOLOGY REPORT - ANNOTATIONS


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.


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autosomal dominant nocturnal frontal lobe epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd16b abhydrolase domain containing 16B JBrowse link 3 176,985,900 176,987,797 RGD:8554872
G Arfrp1 ADP-ribosylation factor related protein 1 JBrowse link 3 176,857,667 176,865,105 RGD:8554872
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 15 42,808,897 42,825,179 RGD:8554872
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:8554872
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 2 189,088,570 189,096,785 RGD:737782
RGD:8554872
G Crh corticotropin releasing hormone JBrowse link 2 104,459,999 104,461,863 RGD:8554872
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit JBrowse link 14 83,089,000 83,219,576 RGD:8554872
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 JBrowse link 3 177,012,714 177,047,787 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:8554872
G Fndc11 fibronectin type III domain containing 11 JBrowse link 3 176,721,100 176,724,736 RGD:8554872
G Gmeb2 glucocorticoid modulatory element binding protein 2 JBrowse link 3 176,756,006 176,791,960 RGD:8554872
G Helz2 helicase with zinc finger 2 JBrowse link 3 176,730,024 176,744,382 RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Lime1 Lck interacting transmembrane adaptor 1 JBrowse link 3 176,881,881 176,888,230 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor JBrowse link 3 176,690,507 176,692,272 RGD:8554872
G Prima1 proline rich membrane anchor 1 JBrowse link 6 127,075,954 127,127,985 RGD:8554872
G Ptk6 protein tyrosine kinase 6 JBrowse link 3 176,698,305 176,706,896 RGD:8554872
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites JBrowse link 3 176,709,742 176,716,146 RGD:8554872
G Stmn3 stathmin 3 JBrowse link 3 176,808,016 176,816,108 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Tpd52l2 TPD52 like 2 JBrowse link 3 176,989,333 177,009,425 RGD:8554872
G Zbtb46 zinc finger and BTB domain containing 46 JBrowse link 3 176,888,502 176,959,009 RGD:8554872
G Zgpat zinc finger CCCH-type and G-patch domain containing JBrowse link 3 176,865,078 176,881,603 RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:7240710
RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 2 189,088,570 189,096,785 RGD:7240710
RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 15 42,808,897 42,825,179 RGD:7240710
RGD:8554872
RGD:11554173
autosomal dominant nocturnal frontal lobe epilepsy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:7240710
RGD:8554872
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                autosomal dominant nocturnal frontal lobe epilepsy 28
                  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 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        central nervous system disease 8856
          brain disease 8144
            epilepsy 1342
              focal epilepsy 151
                frontal lobe epilepsy 29
                  autosomal dominant nocturnal frontal lobe epilepsy 28
                    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
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.