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