Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:focal epilepsy
go back to main search page
Accession:DOID:2234 term browser browse the term
Definition:Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)
Synonyms:exact_synonym: Abdominal Epilepsy;   Amygdalo-Hippocampal Epilepsies;   Amygdalo-Hippocampal Epilepsy;   Benign Occipital Epilepsies;   Benign Occipital Epilepsy;   Childhood Benign Focal Epilepsy;   Childhood Benign Occipital Epilepsy;   Digestive Epilepsies;   Digestive Epilepsy;   Epilepsies, Partial;   Focal Epilepsies;   Focal Seizure Disorder;   Focal Seizure Disorders;   Gelastic Epilepsies;   Gelastic Epilepsy;   Localization-Related Epilepsies;   Localization-Related Epilepsy;   Occipital Lobe Epilepsies;   Occipital Lobe Epilepsy;   Partial Epilepsy;   Partial Seizure Disorder;   Partial Seizure Disorders;   Partial Seizures, Simple, Consciousness Preserved;   Rhinencephalic Epilepsies;   Rhinencephalic Epilepsy;   Seizure, Uncinate;   Subclinical Seizure;   Subclinical Seizures;   abdominal epilepsies;   localisation-related epilepsy;   uncinate seizures
 primary_id: MESH:D004828
 xref: NCI:C122812;   OMIM:PS604364
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
focal epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain-derived neurotrophic factor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cnr1 cannabinoid receptor 1 IMP RGD PMID:19595742 RGD:2314658 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:23933819, PMID:23933820, PMID:25164438, PMID:25741868, PMID:26467025, PMID:27640074, PMID:28492532, PMID:29124671 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal epilepsy
CTD
ClinVar
PMID:18414213, PMID:23086397, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29186148 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:20303372 RGD:8547934 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:14672992, PMID:17347258, PMID:17903680, PMID:18930999, PMID:21248271, PMID:23527921, PMID:24328833, PMID:25741868, PMID:26188943, PMID:26467025, PMID:27465585, PMID:27781031, PMID:28492532, PMID:32238909, PMID:32581362 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:18414213, PMID:25741868, PMID:27210545, PMID:28492532 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
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 3:176,985,900...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, PMID:30311386 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:7895015, 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:18479385, PMID:18685138, PMID:19020039, PMID:19058950, PMID:19237585, PMID:19628474, 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:28150151, PMID:28492532, PMID:28842445, PMID:29655203, PMID:29760947, PMID:30525188, PMID:30659983 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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 3:176,709,742...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 Qualifiers 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 Qualifiers 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: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 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: 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 Qualifiers 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:7895015, PMID:18414213, PMID:18479385, PMID:23086396, PMID:23086397, PMID:23599387, PMID:24463883, PMID:24591078, PMID:25042079, PMID:25326635, PMID:25326637, PMID:25339316, PMID:25482562, PMID:25590979, PMID:25741868, PMID:25985138, PMID:26122718, PMID:26140313, PMID:26269628, PMID:26369628, PMID:26467025, PMID:26648591, PMID:26740507, PMID:27064559, PMID:27652284, PMID:27779742, PMID:28492532, PMID:29186148 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
benign epilepsy with centrotemporal spikes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025, PMID:29358611 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18179895, PMID:22872700, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611, PMID:29788201 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598, PMID:23105115, PMID:25741868, PMID:26467025, PMID:26648591, PMID:28492532, PMID:28761347, PMID:29358611, PMID:32581362 NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:8596935, PMID:9054946, PMID:15329070, PMID:15483648, PMID:16155205, PMID:18028412, PMID:18925453, PMID:20078424, PMID:21757863, PMID:22936898, PMID:25741868, PMID:26843564, PMID:29358611 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017, PMID:25366275, PMID:25741868, PMID:26505888, PMID:28492532, PMID:29358611 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:23708187, PMID:25726841, PMID:25730860, PMID:27864268, PMID:28492532, PMID:29100083, PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy
CTD
ClinVar
PMID:7574460, PMID:18414213, PMID:23933818, PMID:23933819, PMID:23933820, PMID:25726841, PMID:25904555, PMID:26467025, PMID:26601054, PMID:27288002, PMID:28102150, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:132,140,802...132,152,059
Ensembl chr 4:132,140,802...132,151,740
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Rolandic epilepsy ClinVar PMID:18625963 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18625963, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213, PMID:19214208, PMID:19752159, PMID:20713952, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21901791, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025, PMID:28346479, PMID:28492532, PMID:29358611 NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892
JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:107,517,916...107,850,764
Ensembl chr10:107,516,995...107,539,658
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:14515139, PMID:14593429, PMID:24828792, PMID:25620207, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445, PMID:12610651, PMID:18021921, PMID:19200853, PMID:19522081, PMID:21396429, PMID:22550089, PMID:22780858, PMID:23195492, PMID:23398611, PMID:25741868, PMID:26990884, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213, PMID:20478850, PMID:24776970, PMID:24848745, PMID:25250524, PMID:25741868, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr15:19,275,273...19,282,753
Ensembl chr 5:143,063,099...143,070,884
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25224718, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24033266, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr19:46,761,353...47,695,247 JBrowse link
complex partial epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18242854 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
JBrowse link
Familial Focal Epilepsy, with Variable Foci 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 ClinVar PMID:25741868 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Familial focal epilepsy with variable foci
ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1
ClinVar Annotator: match by term: Epilepsy, partial, with variable foci
ClinVar Annotator: match by OMIM:604364
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9851433, PMID:10577924, PMID:10825362, PMID:14510823, PMID:15329069, PMID:20864493, PMID:22780917, PMID:23542697, PMID:23542701, PMID:23869883, PMID:24283814, PMID:24585383, PMID:24591017, PMID:24814846, PMID:25366275, PMID:25599672, PMID:25623524, PMID:25741868, PMID:25741869, PMID:26000329, PMID:26216793, PMID:26467025, PMID:26505888, PMID:26704558, PMID:26849478, PMID:27066544, PMID:27066554, PMID:27066565, PMID:27159400, PMID:27208208, PMID:27323939, PMID:28102150, PMID:28170089, PMID:28199897, PMID:28492532, PMID:28717674, PMID:29057844, PMID:29356177, PMID:29358611, PMID:30093711, PMID:30525188 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:116,297,950...116,301,123
Ensembl chr 8:116,297,950...116,301,122
JBrowse link
G Nprl3 NPR3-like, GATOR1 complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:15,620,824...15,661,332
Ensembl chr10:15,620,871...15,661,331
JBrowse link
Familial Focal Epilepsy, with Variable Foci 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 ClinVar NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2
ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2
ClinVar
OMIM
PMID:25741868, PMID:26505888, PMID:27173016 NCBI chr 8:116,297,950...116,301,123
Ensembl chr 8:116,297,950...116,301,122
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 ClinVar NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699
JBrowse link
Familial Focal Epilepsy, with Variable Foci 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nprl3 NPR3-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3
ClinVar
OMIM
PMID:25741868, PMID:26285051, PMID:26505888, PMID:26786403, PMID:27173016, PMID:28492532, PMID:28726809 NCBI chr10:15,620,824...15,661,332
Ensembl chr10:15,620,871...15,661,331
JBrowse link
Familial Focal Epilepsy, with Variable Foci 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4
ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 4
OMIM
ClinVar
PMID:24157691, PMID:25741868, PMID:28492532, PMID:29466837 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
JBrowse link
familial temporal lobe epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,745,251...256,760,794
Ensembl chr 1:256,745,288...256,760,796
JBrowse link
G Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,786,124...256,804,156
Ensembl chr 1:256,786,124...256,804,156
JBrowse link
G Fra10ac1 FRA10A associated CGG repeat 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,881,688...256,913,617
Ensembl chr 1:256,881,771...256,914,260
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:25741868 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1
ClinVar Annotator: match by term: Epilepsy, lateral temporal lobe, autosomal dominant
ClinVar Annotator: match by OMIM:600512
OMIM
ClinVar
PMID:11810107, PMID:11978770, PMID:12205652, PMID:12601709, PMID:12771268, PMID:14510822, PMID:15079010, PMID:15079011, PMID:15349881, PMID:15660777, PMID:15857855, PMID:17296837, PMID:17562837, PMID:18625862, PMID:18711109, PMID:19191227, PMID:21504429, PMID:22323750, PMID:22496201, PMID:23621105, PMID:24206907, PMID:25485908, PMID:25741868, PMID:26459092, PMID:26467025, PMID:26773249, PMID:26818738, PMID:27760137, PMID:28492532, PMID:30311386 NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253
JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:46,199,981...46,211,930
Ensembl chr20:46,199,981...46,211,930
JBrowse link
G Myof myoferlin ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,585,410...256,734,727
Ensembl chr 1:256,585,410...256,734,730
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link
G Reln reelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1
ClinVar Annotator: match by term: Epilepsy, lateral temporal lobe, autosomal dominant
CTD
ClinVar
PMID:2564880, PMID:14515139, PMID:18414213, PMID:24467814, PMID:25648840, PMID:25741868, PMID:26046367, PMID:26467025, PMID:28419454, PMID:28492532, PMID:29056246, PMID:29358611, PMID:30311386, PMID:31134136 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
familial temporal lobe epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 2 ClinVar NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
JBrowse link
familial temporal lobe epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO mRNA, protein:increased expression:hippocampus, temporal lobe (human)
ClinVar Annotator: match by term: MDR1 POLYMORPHISM
ClinVar PMID:10716719, PMID:11502320, PMID:12189368, PMID:12686700, PMID:15452305, PMID:15452306, PMID:15805193, PMID:16580900, PMID:16912956, PMID:16912957, PMID:17178268, PMID:17898703, PMID:18334914, PMID:19514130, PMID:20017669, PMID:20707787, PMID:21209234, PMID:21383334, PMID:21902500, PMID:22296372, PMID:22992668, PMID:23632726, PMID:24034787, PMID:24624916, PMID:24703092, PMID:25007187, PMID:25012726, PMID:25303299, PMID:25556837, PMID:25582575, PMID:27399166, PMID:27883323, PMID:28346387, PMID:28379874, PMID:28525903, PMID:29474345, PMID:24590840 RGD:11041150 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
familial temporal lobe epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 5 OMIM
ClinVar
PMID:21922598, PMID:23105115, PMID:25741868, PMID:26467025, PMID:26648591, PMID:28492532, PMID:28761347, PMID:29358611, PMID:32581362 NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
JBrowse link
familial temporal lobe epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reln reelin ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 7 ClinVar
OMIM
PMID:25741868, PMID:26046367, PMID:28492532, PMID:29358611, PMID:30311386, PMID:31134136, PMID:32860008 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 7 ClinVar PMID:15731757, PMID:21267002, PMID:25741868 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
familial temporal lobe epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 8 ClinVar
OMIM
PMID:25691535, PMID:28492532 NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
JBrowse link
Focal Epilepsy with Speech Disorder and with or without Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: CSWS ClinVar PMID:30311386 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: CSWS ClinVar PMID:30311386 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation
ClinVar Annotator: match by term: Focal epilepsy with speech disorder with or without mental retardation
OMIM
ClinVar
PMID:7574460, PMID:9526012, PMID:10996561, PMID:16537520, PMID:18414213, PMID:18718967, PMID:19286491, PMID:19292755, PMID:20384727, PMID:20890276, PMID:21376300, PMID:21499247, PMID:21507155, PMID:21681106, PMID:22833210, PMID:23033978, PMID:23294109, PMID:23408766, PMID:23933818, PMID:23933819, PMID:23933820, PMID:23940648, PMID:24455489, PMID:24463507, PMID:24504326, PMID:24828792, PMID:24848745, PMID:24903190, PMID:25164438, PMID:25326635, PMID:25596506, PMID:25726841, PMID:25741868, PMID:25904555, PMID:26220384, PMID:26283219, PMID:26467025, PMID:26601054, PMID:26648591, PMID:26806548, PMID:27171548, PMID:27288002, PMID:27640074, PMID:27839871, PMID:28102150, PMID:28109652, PMID:28492532, PMID:28936771, PMID:29056244, PMID:29124671, PMID:29317596, PMID:29358611, PMID:29778030, PMID:30311386, PMID:30544257, PMID:32238909 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:25741868 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Itsn2 intersectin 2 ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:25741868 NCBI chr 6:30,098,378...30,208,694
Ensembl chr 6:30,098,380...30,187,337
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: CSWS ClinVar PMID:28492532, PMID:30311386 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
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 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14996991 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23086396 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Slc4a10 solute carrier family 4 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18413482 NCBI chr 3:47,995,812...48,287,897
Ensembl chr 3:47,995,959...48,287,910
JBrowse link
partial motor epilepsy 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 ClinVar Annotator: match by term: Focal clonic seizures ClinVar PMID:25741868 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal clonic seizures ClinVar PMID:25741868 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:9526012, PMID:10996561, PMID:18414213, PMID:18718967, PMID:19286491, PMID:19292755, PMID:20384727, PMID:20890276, PMID:21499247, PMID:21507155, PMID:22833210, PMID:23033978, PMID:23294109, PMID:23408766, PMID:23933818, PMID:23933819, PMID:23933820, PMID:23940648, PMID:24455489, PMID:24463507, PMID:24504326, PMID:24903190, PMID:25164438, PMID:25596506, PMID:25726841, PMID:25741868, PMID:25904555, PMID:26220384, PMID:26283219, PMID:26467025, PMID:26601054, PMID:26648591, PMID:27171548, PMID:27288002, PMID:27640074, PMID:27839871, PMID:28492532, PMID:28936771, PMID:29124671, PMID:29358611 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
ClinVar Annotator: match by term: X-linked rolandic epilepsy with mental retardation and speech dyspraxia
ClinVar Annotator: match by OMIM:300643
OMIM
ClinVar
PMID:16497722, PMID:18718938, PMID:23831613, PMID:23871722, PMID:23933820, PMID:24995671, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:104,734,035...104,760,658
Ensembl chr  X:104,734,082...104,760,547
JBrowse link
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
OMIM
ClinVar
PMID:10072049, PMID:27281533, PMID:28492532, PMID:30108545, PMID:31112829, PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
temporal lobe epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:15380564 RGD:1358367 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IDA RGD PMID:16928449 RGD:1598560 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Actb actin, beta IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Add1 adducin 1 IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Adk adenosine kinase IEP
ISO
RGD PMID:21635241, PMID:21635241 RGD:6482302, RGD:6482302 NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
G Agt angiotensinogen IEP RGD PMID:22542773 RGD:8549466 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ak2 adenylate kinase 2 IEP RGD PMID:22246993 RGD:11100024 NCBI chr 5:147,185,474...147,204,050
Ensembl chr 5:147,185,474...147,204,050
JBrowse link
G Aqp4 aquaporin 4 ISO DNA:SNPs: :multiple (human) RGD PMID:19864112 RGD:5148036 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Avp arginine vasopressin IDA RGD PMID:12438923 RGD:1579871 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15196965 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: therapeutic CTD PMID:15196965 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Cabp1 calcium binding protein 1 IEP protein:altered expression:brain RGD PMID:12941472 RGD:14399955 NCBI chr12:47,185,449...47,209,785
Ensembl chr12:47,179,664...47,209,784
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A IEP RGD PMID:10448056 RGD:10054441 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Casp2 caspase 2 disease_progression ISO RGD PMID:17627033 RGD:4107076 NCBI chr 4:71,652,358...71,670,228
Ensembl chr 4:71,652,354...71,670,239
JBrowse link
G Cdc42 cell division cycle 42 IEP RGD PMID:19700661 RGD:5688272 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20498848 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Crh corticotropin releasing hormone IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:9037416 RGD:5508845 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Crhbp corticotropin releasing hormone binding protein IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:9037416 RGD:5508845 NCBI chr 2:25,141,471...25,153,334
Ensembl chr 2:25,141,471...25,153,334
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 IMP RGD PMID:28104461 RGD:13463105 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 IEP mRNA, protein:increased expression:hippocampus, cerebral cortex (rat) RGD PMID:26000921 RGD:11568065 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Dbn1 drebrin 1 IEP mRNA,protein:altered expression:hippocampus: RGD PMID:21240918 RGD:10398806 NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
JBrowse link
G Dcx doublecortin ISO protein:decreased expression:hippocampus RGD PMID:20888264 RGD:12904713 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO
IEP
protein:increased expression:temporal cortex
protein:increased expression:cerebral cortex, hippocampus
RGD PMID:22337344, PMID:22337344 RGD:11251761, RGD:11251761 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
G Foxo3 forkhead box O3 ISO protein:increased expression:hippocampus,mitochondrion: RGD PMID:23278239 RGD:10402198 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr20:44,436,354...44,630,316
Ensembl chr20:44,436,403...44,630,317
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP RGD PMID:18381650 RGD:6484554 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Glul glutamate-ammonia ligase IDA
ISS
ISO
inhibition results in recurrent seizures
protein:decreased expression, decreased activity:hippocampus (human)
MouseDO PMID:18669513, PMID:14723991 RGD:2301554, RGD:2301555 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO
IEP
mRNA:increased expression:hippocampus
protein:decreased expression:forebrain, postsynaptic density
RGD PMID:9848088, PMID:11226670 RGD:2316538, RGD:5147998 NCBI chr 1:81,885,516...81,946,731
Ensembl chr 1:81,885,521...81,946,714
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA:decreased expression:hippocampus pyramidal layer (human) RGD PMID:9761317 RGD:13432039 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Grm1 glutamate metabotropic receptor 1 IEP
ISO
protein:increased expression:forebrain, postsynaptic density
CTD Direct Evidence: marker/mechanism
CTD PMID:15694259, PMID:11226670 RGD:5147998 NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
G Grm2 glutamate metabotropic receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18804094 NCBI chr 8:115,344,999...115,358,628
Ensembl chr 8:115,344,999...115,358,046
JBrowse link
G Grm3 glutamate metabotropic receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18804094 NCBI chr 4:21,316,761...21,567,561
Ensembl chr 4:21,317,695...21,560,490
JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15694259 NCBI chr20:6,745,682...6,791,521
Ensembl chr20:6,745,682...6,791,519
JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15694259 NCBI chr 1:151,207,846...151,785,038
Ensembl chr 1:151,439,409...151,783,392
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP
ISO
mRNA:increased expression:hippocampus:
protein:decreased expression:hippocampus:
RGD PMID:12890777, PMID:21905079, PMID:12890777 RGD:9686145, RGD:9686146, RGD:9686145 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:timporal lobe: RGD PMID:21987499 RGD:9590259 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISS MouseDO NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526
JBrowse link
G Kcnab1 potassium voltage-gated channel subfamily A member regulatory beta subunit 1 susceptibility ISO DNA:snps, haplotypes:multiple (human) RGD PMID:21333500 RGD:9743959 NCBI chr 2:155,555,798...156,011,438
Ensembl chr 2:155,718,359...156,009,526
JBrowse link
G Kcnc4 potassium voltage-gated channel subfamily C member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20971086 NCBI chr 2:210,220,908...210,241,447
Ensembl chr 2:210,220,908...210,241,455
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Map2 microtubule-associated protein 2 IEP protein:decreased expression:brain RGD PMID:22265658 RGD:6483080 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Mapt microtubule-associated protein tau ISO RGD PMID:28595035 RGD:13800901 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:hippocampus: RGD PMID:23727401 RGD:7327195 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO CTD Direct Evidence: marker/mechanism CTD PMID:17092649 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO mRNA:increased expression:brain (mouse) RGD PMID:10581412 RGD:5490286 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP associated with Status Epilepticus RGD PMID:19474323 RGD:10041000 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Npy neuropeptide Y treatment ISO CTD Direct Evidence: therapeutic CTD PMID:15716408, PMID:18477594 RGD:10434563 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO RGD PMID:15337376 RGD:1642609 NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO CTD Direct Evidence: therapeutic CTD PMID:15716408, PMID:15337376 RGD:1642609 NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
JBrowse link
G Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr10:91,879,608...91,986,242
Ensembl chr10:91,878,633...92,008,082
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G P2rx4 purinergic receptor P2X 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19084381 NCBI chr12:39,308,022...39,325,673
Ensembl chr12:39,308,025...39,325,673
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121326, PMID:19084381 NCBI chr12:39,353,613...39,396,042
Ensembl chr12:39,353,613...39,396,042
JBrowse link
G Pdyn prodynorphin ISO DNA:repeats:promoter: (human) RGD PMID:11835385 RGD:1358556 NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:temporal cortex RGD PMID:22079325 RGD:6483774 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 treatment IMP protein:increased expression:hippocampus: RGD PMID:21905079 RGD:9686146 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 IEP RGD PMID:11292447 RGD:9589829 NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 ISO protein:decreased expression:temporal neocortex (human) RGD PMID:23200899 RGD:10003135 NCBI chr 8:97,277,250...97,405,095
Ensembl chr 8:97,277,456...97,405,102
JBrowse link
G Reln reelin severity ISO mRNA:decreased expression:hippocampus (human)
protein: increased methylation: brain
RGD PMID:12122039, PMID:19287316 RGD:2317926, RGD:13207524 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rgma repulsive guidance molecule BMP co-receptor a IEP protein:decreased expression:CA3 field of hippocampus RGD PMID:25420768 RGD:9850144 NCBI chr 1:134,699,053...134,742,512
Ensembl chr 1:134,699,299...134,742,514
JBrowse link
G Shh sonic hedgehog signaling molecule ISO
IEP
protein:increased expression:temporal cortex
protein:increased expression:hippocampus, temporal cortex
RGD PMID:21376786, PMID:21376786 RGD:12859046, RGD:12859046 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Slc12a2 solute carrier family 12 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19674083 NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19674083 NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11906504 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Slc6a1 solute carrier family 6 member 1 IEP protein:decreased expression:hippocampus RGD PMID:15248296 RGD:1643206 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
G Slit2 slit guidance ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20153733 NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20144892 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
G Vdac2 voltage-dependent anion channel 2 IEP protein:increased expression:hippocampus RGD PMID:18186018 RGD:10003053 NCBI chr15:2,634,622...2,648,548
Ensembl chr15:2,634,624...2,648,551
JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18534255 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            epilepsy 1528
              focal epilepsy 156
                Familial Focal Epilepsy, with Variable Foci 1 4
                Familial Focal Epilepsy, with Variable Foci 2 3
                Familial Focal Epilepsy, with Variable Foci 3 1
                Familial Focal Epilepsy, with Variable Foci 4 1
                Focal Epilepsy with Speech Disorder and with or without Mental Retardation 7
                Partial Epilepsy with Pericentral Spikes 0
                benign epilepsy with centrotemporal spikes + 36
                complex partial epilepsy 1
                frontal lobe epilepsy + 29
                partial motor epilepsy 2
                partial sensory epilepsy + 0
                simple partial epilepsy 0
                temporal lobe epilepsy + 86
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.