myoclonic-atonic epilepsy - Ontology Report - Rat Genome Database

myoclonic-atonic epilepsy - Ontology Report - Rat Genome Database

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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:	myoclonic-atonic epilepsy	go back to main search page
Accession:	DOID:0060475	browse the term
Definition:	An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. (DO)
Synonyms:	exact_synonym:	EEOC; ELS; GENERALIZED MYOCLONIC-ATONIC SEIZURE; IECEE; MAE; childhood onset epileptic encephalopathy; early life seizures; early onset epileptic encephalopathy; infantile or early childhood epileptic encephalopathy; myoclonic-atonic seizure
	narrow_synonym:	UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY; infantile epileptic encephalopathy; infantile spasm
	broad_synonym:	SLC6A1-related condition; SLC6A1-related neurodevelopmental condition; SLC6A1-related neurodevelopmental disorder
	alt_id:	DOID:9002731
	xref:	MIM:616421; MONDO:0014633; NCI:C165674; NCI:C172100

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myoclonic-atonic epilepsy

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G

actin related protein 2/3 complex subunit 4

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,799,225...45,814,343
Ensembl chr22:45,799,645...45,814,870

G

P

actin related protein 2/3 complex subunit 4

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,075,926...66,093,986
Ensembl chr13:66,056,890...66,123,977

G

D

actin related protein 2/3 complex subunit 4

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,441,994...8,453,131
Ensembl chr20:8,442,788...8,453,057

G

B

actin related protein 2/3 complex subunit 4

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,744,055...9,758,627
Ensembl chr 3:9,981,934...9,996,250

G

C

actin related protein 2/3 complex subunit 4

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,314,299...1,327,300
Ensembl chrNW_004955561:1,314,299...1,327,300

G

R

actin related protein 2/3 complex, subunit 4

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,077,799...148,088,427
Ensembl chr 4:146,522,176...146,532,785

G

M

actin related protein 2/3 complex, subunit 4

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,355,074...113,367,408
Ensembl chr 6:113,355,076...113,367,409

G

H

actin related protein 2/3 complex subunit 4

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101

G

H

ARPC4-TTLL3 readthrough

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,792,548...9,836,356
Ensembl chr 3:9,793,082...9,835,401

G

N

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004624907:715,109...736,040
Ensembl chrNW_004624907:715,094...736,432

G

G

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 6:36,166,586...36,195,343
Ensembl chr 6:36,166,262...36,195,363

G

P

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633

G

S

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525

G

D

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916

G

B

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716

G

C

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542

G

R

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918

G

M

ATPase, Na+/K+ transporting, alpha 3 polypeptide

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383

G

H

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497

G

N

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996

G

G

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220

G

P

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128

G

S

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:2,744,757...3,011,051
Ensembl chrNW_004936602:2,744,759...3,007,940

G

D

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474

G

B

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006

G

C

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,727,935...1,851,907
Ensembl chrNW_004955561:1,727,935...1,851,907

G

R

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:146,896,332...147,140,665

G

M

ATPase, Ca++ transporting, plasma membrane 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574

G

H

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007

G

N

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,679,060...4,685,892
Ensembl chrNW_004624731:4,678,731...4,687,617

G

G

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546

G

P

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641

G

S

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,147,773...3,155,739
Ensembl chrNW_004936602:3,148,567...3,155,736

G

D

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258

G

B

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545

G

C

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618

G

R

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,306,436...148,321,668
Ensembl chr 4:146,750,821...146,768,856

G

M

BRICK1, SCAR/WAVE actin-nucleating complex subunit

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912

G

H

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190

G

N

bromodomain and PHD finger containing 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,364,870...4,381,581
Ensembl chrNW_004624731:4,364,565...4,383,157

G

G

bromodomain and PHD finger containing 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,740,192...45,756,327
Ensembl chr22:45,740,351...45,756,390

G

P

bromodomain and PHD finger containing 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,021,047...66,037,446
Ensembl chr13:66,021,325...66,037,445

G

S

bromodomain and PHD finger containing 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,419,873...3,436,119
Ensembl chrNW_004936602:3,420,445...3,436,119

G

D

bromodomain and PHD finger containing 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,493,183...8,508,785
Ensembl chr20:8,493,167...8,506,449

G

B

bromodomain and PHD finger containing 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,684,091...9,700,376
Ensembl chr 3:9,922,769...9,939,016

G

C

bromodomain and PHD finger containing 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,260,237...1,275,953
Ensembl chrNW_004955561:1,259,700...1,276,015

G

R

bromodomain and PHD finger containing, 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,011,977...148,028,431
Ensembl chr 4:146,456,318...146,472,649

G

M

bromodomain and PHD finger containing, 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,283,824...113,301,823
Ensembl chr 6:113,284,098...113,301,821

G

H

bromodomain and PHD finger containing 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019

G

N

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More...

NCBI chrNW_004624901:707,322...932,658
Ensembl chrNW_004624901:708,234...932,643

G

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More...

NCBI chr 6:11,883,353...12,307,023

G

P

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More...

NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182

G

D

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More...

NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032

G

B

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More...

NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729

G

C

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More...

NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595

G

R

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More...

NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225

G

M

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More...

NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875

G

H

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More...

NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489

G

N

calcium/calmodulin dependent protein kinase I

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,388,373...4,399,762
Ensembl chrNW_004624731:4,383,927...4,399,369

G

G

calcium/calmodulin dependent protein kinase I

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,763,799...45,776,792
Ensembl chr22:45,762,499...45,774,597

G

P

calcium/calmodulin dependent protein kinase I

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,044,713...66,055,290
Ensembl chr13:66,044,720...66,055,295

G

S

calcium/calmodulin dependent protein kinase I

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,402,559...3,413,323
Ensembl chrNW_004936602:3,401,005...3,414,935

G

D

calcium/calmodulin dependent protein kinase I

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,475,902...8,486,214
Ensembl chr20:8,475,716...8,486,214

G

B

calcium/calmodulin dependent protein kinase I

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,708,782...9,721,433
Ensembl chr 3:9,945,609...9,959,560

G

C

calcium/calmodulin dependent protein kinase I

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,282,970...1,292,710
Ensembl chrNW_004955561:1,282,970...1,294,972

G

R

calcium/calmodulin-dependent protein kinase I

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,036,843...148,047,675
Ensembl chr 4:146,481,196...146,492,081

G

M

calcium/calmodulin-dependent protein kinase I

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,311,085...113,320,883
Ensembl chr 6:113,311,085...113,320,945

G

H

calcium/calmodulin dependent protein kinase I

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,757,347...9,769,947
Ensembl chr 3:9,757,347...9,769,992

G

N

coiled-coil domain containing 120

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chrNW_004624893:824,834...841,786
Ensembl chrNW_004624893:831,833...841,884

G

G

coiled-coil domain containing 120

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:46,161,238...46,178,128
Ensembl chr X:46,170,651...46,177,244

G

P

coiled-coil domain containing 120

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:43,128,938...43,146,777
Ensembl chr X:43,134,275...43,146,775

G

S

coiled-coil domain containing 120

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chrNW_004936721:954,188...971,507
Ensembl chrNW_004936721:964,603...969,992

G

D

coiled-coil domain containing 120

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:42,206,553...42,217,607
Ensembl chr X:42,210,804...42,216,993

G

B

coiled-coil domain containing 120

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:41,341,834...41,367,761
Ensembl chr X:49,207,391...49,223,552

G

C

coiled-coil domain containing 120

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chrNW_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544

G

R

coiled-coil domain containing 120

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:17,437,219...17,443,716
Ensembl chr X:14,753,696...14,772,743

G

M

coiled-coil domain containing 120

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:7,597,953...7,607,563
Ensembl chr X:7,597,953...7,617,144

G

H

coiled-coil domain containing 120

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:49,053,572...49,069,858
Ensembl chr X:49,053,572...49,069,857

G

N

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More...

NCBI chrNW_004624768:10,786,139...10,922,558
Ensembl chrNW_004624768:10,785,815...10,922,790

G

G

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More...

NCBI chr29:11,436,170...11,579,468
Ensembl chr29:11,450,799...11,579,594

G

P

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More...

NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938

G

S

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More...

NCBI chrNW_004936483:9,803,887...9,931,132
Ensembl chrNW_004936483:9,803,623...9,931,272

G

D

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More...

NCBI chr 3:47,101,789...47,221,473
Ensembl chr 3:47,105,046...47,221,385

G

B

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More...

NCBI chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569

G

C

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More...

NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321

G

R

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More...

NCBI chr 1:136,597,993...136,726,874
Ensembl chr 1:127,190,059...127,300,502

G

M

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More...

NCBI chr 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578

G

H

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset
ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More...

NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996

G

N

cell death inducing DFFA like effector c

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,474,912...4,484,866
Ensembl chrNW_004624731:4,474,689...4,484,894

G

G

cell death inducing DFFA like effector c

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658

G

P

cell death inducing DFFA like effector c

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703

G

S

cell death inducing DFFA like effector c

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,312,146...3,323,009
Ensembl chrNW_004936602:3,313,208...3,322,604

G

D

cell death inducing DFFA like effector c

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774

G

B

cell death inducing DFFA like effector c

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,811,995...9,836,069
Ensembl chr 3:10,048,554...10,173,107

G

C

cell death inducing DFFA like effector c

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,363,907...1,376,144

G

R

cell death-inducing DFFA-like effector c

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,124,924...148,137,806
Ensembl chr 4:146,569,289...146,582,173

G

M

cell death-inducing DFFA-like effector c

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721

G

H

cell death inducing DFFA like effector c

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255

G

N

copine family member 9

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,341,091...4,363,112
Ensembl chrNW_004624731:4,342,172...4,362,931

G

G

copine family member 9

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,714,168...45,738,368

G

P

copine family member 9

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:65,994,369...66,019,080
Ensembl chr13:65,995,534...66,019,077

G

S

copine family member 9

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,439,172...3,462,951
Ensembl chrNW_004936602:3,438,888...3,463,510

G

D

copine family member 9

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,511,267...8,529,630
Ensembl chr20:8,511,350...8,529,473

G

B

copine family member 9

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,655,280...9,682,266
Ensembl chr 3:9,893,662...9,920,728

G

C

copine family member 9

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,238,916...1,258,000
Ensembl chrNW_004955561:1,238,862...1,258,045

G

R

copine family member 9

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:147,985,900...148,009,987
Ensembl chr 4:146,430,792...146,454,333

G

M

copine family member IX

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,259,244...113,282,532
Ensembl chr 6:113,259,268...113,282,588

G

H

copine family member 9

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,703,833...9,729,908
Ensembl chr 3:9,703,826...9,729,908

G

N

cysteine rich with EGF like domains 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,537,073...4,544,256
Ensembl chrNW_004624731:4,537,089...4,544,256

G

G

cysteine rich with EGF like domains 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712

G

P

cysteine rich with EGF like domains 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412

G

S

cysteine rich with EGF like domains 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,258,029...3,267,231
Ensembl chrNW_004936602:3,255,227...3,267,187

G

D

cysteine rich with EGF like domains 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,333,911...8,342,429

G

B

cysteine rich with EGF like domains 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,878,265...9,889,826

G

C

cysteine rich with EGF like domains 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,423,229...1,430,679
Ensembl chrNW_004955561:1,423,405...1,433,314

G

R

cysteine-rich with EGF-like domains 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,187,510...148,197,120
Ensembl chr 4:146,631,883...146,641,499

G

M

cysteine-rich with EGF-like domains 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304

G

H

cysteine rich with EGF like domains 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413

G

N

dynamin 1

NCBI chrNW_004624760:6,605,902...6,646,575
Ensembl chrNW_004624760:6,604,787...6,646,622

G

G

dynamin 1

NCBI chr12:9,874,098...9,927,737
Ensembl chr12:9,878,966...9,927,744

G

P

dynamin 1

NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,070...268,702,222

G

S

dynamin 1

NCBI chrNW_004936487:15,767,897...15,797,722
Ensembl chrNW_004936487:15,767,897...15,801,211

G

D

dynamin 1

NCBI chr 9:55,252,802...55,298,244
Ensembl chr 9:55,252,347...55,298,244

G

B

dynamin 1

NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690

G

C

dynamin 1

NCBI chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770

G

R

dynamin 1

RGD

NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:15,604,784...15,648,538

G

M

dynamin 1

RGD

NCBI chr 2:32,198,483...32,243,361
Ensembl chr 2:32,198,483...32,243,350

G

H

dynamin 1

RGD

NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248

G

N

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,556,481...4,577,612
Ensembl chrNW_004624731:4,557,842...4,577,602

G

G

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,990,708...46,015,697
Ensembl chr22:45,987,731...46,015,712

G

P

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935

G

S

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,220,545...3,239,913
Ensembl chrNW_004936602:3,220,253...3,240,050

G

D

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,297,263...8,316,405
Ensembl chr20:8,297,274...8,315,426

G

B

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,907,446...9,932,140
Ensembl chr 3:10,256,276...10,280,626

G

C

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,442,953...1,459,988
Ensembl chrNW_004955561:1,442,953...1,459,988

G

R

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,218,686...148,234,595
Ensembl chr 4:146,663,067...146,679,029

G

M

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,491,848...113,508,599
Ensembl chr 6:113,491,835...113,508,613

G

H

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,962,682...10,011,118
Ensembl chr 3:9,962,682...10,011,202

G

N

FA complementation group D2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,577,663...4,671,086
Ensembl chrNW_004624731:4,611,963...4,671,765

G

G

FA complementation group D2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713

G

P

FA complementation group D2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433

G

S

FA complementation group D2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868

G

D

FA complementation group D2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568

G

B

FA complementation group D2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190

G

C

FA complementation group D2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045

G

R

FA complementation group D2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:146,679,179...146,743,412

G

M

Fanconi anemia, complementation group D2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978

G

H

FA complementation group D2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932

G

N

FANCD2 opposite strand

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,672,192...4,675,326
Ensembl chrNW_004624731:4,672,535...4,673,071

G

G

FANCD2 opposite strand

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392

G

P

FANCD2 opposite strand

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166

G

S

FANCD2 opposite strand

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,160,505...3,161,374
Ensembl chrNW_004936602:3,160,508...3,161,044

G

D

FANCD2 opposite strand

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193

G

B

FANCD2 opposite strand

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702

G

C

FANCD2 opposite strand

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130

G

R

FANCD2 opposite strand

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,296,478...148,303,037
Ensembl chr 4:146,740,863...146,747,569

G

M

Fancd2 opposite strand

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676

G

H

FANCD2 opposite strand

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255

G

N

fibroblast growth factor 12

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More...

NCBI chrNW_004624730:64,743,724...65,288,816
Ensembl chrNW_004624730:65,038,077...65,284,083

G

G

fibroblast growth factor 12

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More...

NCBI chr15:86,252,816...86,836,363

G

P

fibroblast growth factor 12

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More...

NCBI chr13:129,237,500...129,817,992
Ensembl chr13:129,240,083...129,817,911

G

S

fibroblast growth factor 12

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More...

NCBI chrNW_004936711:1,873,030...2,378,028
Ensembl chrNW_004936711:2,045,080...2,375,896

G

D

fibroblast growth factor 12

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More...

NCBI chr34:23,818,445...24,357,825
Ensembl chr34:23,819,686...24,357,373

G

B

fibroblast growth factor 12

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More...

NCBI chr 3:189,430,811...190,017,254
Ensembl chr 3:199,778,545...200,358,744

G

C

fibroblast growth factor 12

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More...

NCBI chrNW_004955420:15,783,184...16,310,743
Ensembl chrNW_004955420:16,070,096...16,306,103

G

R

fibroblast growth factor 12

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More...

NCBI chr11:85,501,947...86,069,543
Ensembl chr11:71,997,099...72,562,607

G

M

fibroblast growth factor 12

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More...

NCBI chr16:27,976,535...28,571,995
Ensembl chr16:27,978,850...28,571,820

G

H

fibroblast growth factor 12

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More...

NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764

G

N

Fragile X messenger ribonucleoprotein 1

protein:decreased expression:hippocampus, cytosol (rat)

NCBI chrNW_004624883:645,524...681,705
Ensembl chrNW_004624883:645,449...682,292

G

G

Fragile X messenger ribonucleoprotein 1

protein:decreased expression:hippocampus, cytosol (rat)

NCBI chr X:122,635,383...122,674,298
Ensembl chr X:122,635,439...122,674,355

G

P

Fragile X messenger ribonucleoprotein 1

protein:decreased expression:hippocampus, cytosol (rat)

NCBI chr X:120,361,232...120,400,282
Ensembl chr X:120,361,367...120,399,831

G

S

Fragile X messenger ribonucleoprotein 1

protein:decreased expression:hippocampus, cytosol (rat)

NCBI chrNW_004936513:1,290,038...1,327,850
Ensembl chrNW_004936513:1,289,558...1,327,856

G

D

Fragile X messenger ribonucleoprotein 1

protein:decreased expression:hippocampus, cytosol (rat)

NCBI chr X:116,249,079...116,287,008
Ensembl chr X:116,249,142...116,321,439

G

B

fragile X messenger ribonucleoprotein 1

protein:decreased expression:hippocampus, cytosol (rat)

NCBI chr X:136,937,889...136,976,828
Ensembl chr X:147,365,748...147,405,321

G

C

Fragile X messenger ribonucleoprotein 1

protein:decreased expression:hippocampus, cytosol (rat)

NCBI chrNW_004955498:566,741...594,837
Ensembl chrNW_004955498:566,688...595,360

G

R

fragile X messenger ribonucleoprotein 1

protein:decreased expression:hippocampus, cytosol (rat)

RGD

NCBI chr X:152,284,857...152,322,686
Ensembl chr X:147,240,301...147,278,050

G

M

fragile X messenger ribonucleoprotein 1

protein:decreased expression:hippocampus, cytosol (rat)

RGD

NCBI chr X:67,722,144...67,761,569
Ensembl chr X:67,722,147...67,761,569

G

H

fragile X messenger ribonucleoprotein 1

protein:decreased expression:hippocampus, cytosol (rat)

RGD

NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125

G

N

ghrelin and obestatin prepropeptide

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:5,257,813...5,262,878
Ensembl chrNW_004624731:5,257,830...5,262,473

G

G

ghrelin and obestatin prepropeptide

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962

G

P

ghrelin and obestatin prepropeptide

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917

G

S

ghrelin and obestatin prepropeptide

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,037,862...3,044,863
Ensembl chrNW_004936602:3,038,549...3,042,506

G

D

ghrelin and obestatin prepropeptide

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510

G

B

ghrelin and obestatin prepropeptide

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723

G

C

ghrelin and obestatin prepropeptide

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812

G

R

ghrelin and obestatin prepropeptide

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621

G

M

ghrelin

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841

G

H

ghrelin and obestatin prepropeptide

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947

G

H

ghrelin opposite strand/antisense RNA

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,280,952...10,293,449
Ensembl chr 3:10,285,754...10,294,903

G

N

interleukin 17 receptor C

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,524,090...4,536,879
Ensembl chrNW_004624731:4,525,556...4,536,858

G

G

interleukin 17 receptor C

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,944,385...45,960,188
Ensembl chr22:45,944,669...45,960,164

G

P

interleukin 17 receptor C

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,179,298...66,194,750

G

S

interleukin 17 receptor C

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,267,397...3,281,985
Ensembl chrNW_004936602:3,267,425...3,282,040

G

D

interleukin 17 receptor C

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,342,622...8,355,996
Ensembl chr20:8,334,345...8,355,387

G

B

interleukin 17 receptor C

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,861,423...9,878,154
Ensembl chr 3:10,210,241...10,226,796

G

C

interleukin 17 receptor C

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,410,100...1,423,041
Ensembl chrNW_004955561:1,410,941...1,423,023

G

R

interleukin 17 receptor C

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,174,573...148,187,071
Ensembl chr 4:146,619,004...146,631,442

G

M

interleukin 17 receptor C

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101

G

H

interleukin 17 receptor C

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630

G

G

interleukin 17 receptor E

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,929,339...45,943,749

G

P

interleukin 17 receptor E

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,164,492...66,177,967

G

S

interleukin 17 receptor E

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,282,792...3,294,396
Ensembl chrNW_004936602:3,283,294...3,294,324

G

D

interleukin 17 receptor E

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,356,150...8,376,175
Ensembl chr20:8,356,728...8,367,658

G

B

interleukin 17 receptor E

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,846,319...9,860,735
Ensembl chr 3:10,195,209...10,208,958

G

C

interleukin 17 receptor E

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,397,286...1,409,999
Ensembl chrNW_004955561:1,397,287...1,409,999

G

R

interleukin 17 receptor E

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,160,384...148,173,830
Ensembl chr 4:146,605,526...146,618,206

G

M

interleukin 17 receptor E

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719

G

H

interleukin 17 receptor E

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402

G

N

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004624909:462,724...564,989
Ensembl chrNW_004624909:460,626...565,133

G

G

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr X:49,363,569...49,452,872
Ensembl chr X:49,364,909...49,387,050

G

P

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr X:46,011,386...46,094,978
Ensembl chr X:46,011,388...46,094,817

G

S

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004936751:210,800...294,358
Ensembl chrNW_004936751:210,761...294,399

G

D

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr X:44,861,813...44,915,011
Ensembl chr X:44,872,888...44,913,704

G

B

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr X:45,447,977...45,535,836
Ensembl chr X:53,557,563...53,644,737

G

C

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004955475:285,977...369,380
Ensembl chrNW_004955475:284,168...369,400

G

R

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr X:24,734,202...24,816,566
Ensembl chr X:21,254,914...21,336,584

G

M

IQ motif and Sec7 domain 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr X:150,927,179...151,008,233
Ensembl chr X:150,927,193...151,008,232

G

H

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350

G

N

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:5,294,464...5,348,426
Ensembl chrNW_004624731:5,294,431...5,348,481

G

G

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260

G

P

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827

G

S

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,073,910...3,129,344
Ensembl chrNW_004936602:3,073,889...3,129,408

G

D

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,133,987...8,197,009
Ensembl chr20:8,134,970...8,196,910

G

B

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629

G

C

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,585,842...1,650,268
Ensembl chrNW_004955561:1,585,827...1,653,197

G

R

interleukin-1 receptor-associated kinase 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,341,704...148,398,211
Ensembl chr 4:146,786,100...146,842,602

G

M

interleukin-1 receptor-associated kinase 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987

G

H

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745

G

G

jagunal homolog 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250

G

P

jagunal homolog 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,154,855...66,158,329

G

S

jagunal homolog 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,300,685...3,303,509
Ensembl chrNW_004936602:3,298,348...3,303,555

G

D

jagunal homolog 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085

G

B

jagunal homolog 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064

G

C

jagunal homolog 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,388,592...1,392,107
Ensembl chrNW_004955561:1,388,592...1,392,107

G

R

jagunal homolog 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,147,213...148,151,915
Ensembl chr 4:146,591,510...146,596,288

G

M

jagunal homolog 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190

G

H

jagunal homolog 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349

G

H

KYAT1-SPOUT1 readthrough

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:38260255

NCBI chr 9:128,819,651...128,881,950

G

N

LIM domain kinase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004624740:13,824,930...13,847,605
Ensembl chrNW_004624740:13,823,437...13,847,808

G

G

LIM domain kinase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr28:8,953,095...8,988,848
Ensembl chr28:8,952,957...8,988,672

G

P

LIM domain kinase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 3:11,252,820...11,279,286
Ensembl chr 3:11,252,648...11,279,284

G

D

LIM domain kinase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 6:6,263,374...6,285,734
Ensembl chr 6:6,264,548...6,286,026

G

B

LIM domain kinase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

Ensembl chr 7:81,231,876...81,271,282

G

C

LIM domain kinase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004955456:13,751,135...13,773,722
Ensembl chrNW_004955456:13,750,889...13,774,021

G

R

LIM domain kinase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr12:27,663,177...27,697,085
Ensembl chr12:22,026,672...22,060,606

G

M

LIM domain kinase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 5:134,684,893...134,718,713
Ensembl chr 5:134,684,893...134,717,452

G

H

LIM domain kinase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525

G

S

voltage-dependent P/Q-type calcium channel subunit alpha-1A

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More...

NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638

G

S

eukaryotic translation initiation factor 4H

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004936543:3,190,741...3,208,232
Ensembl chrNW_004936543:3,185,201...3,208,388
Ensembl chrNW_004936543:3,185,201...3,208,388

G

N

myotubularin related protein 14

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,290,107...4,340,978
Ensembl chrNW_004624731:4,289,938...4,340,980

G

G

myotubularin related protein 14

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,650,544...45,704,237
Ensembl chr22:45,650,556...45,713,176

G

P

myotubularin related protein 14

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:65,948,520...65,994,231
Ensembl chr13:65,948,544...65,994,820

G

S

myotubularin related protein 14

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,466,547...3,513,628
Ensembl chrNW_004936602:3,466,549...3,513,628

G

D

myotubularin related protein 14

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,530,682...8,576,911
Ensembl chr20:8,530,711...8,576,913

G

B

myotubularin related protein 14

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,600,866...9,653,860
Ensembl chr 3:9,839,821...9,892,055

G

C

myotubularin related protein 14

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,195,689...1,237,852
Ensembl chrNW_004955561:1,195,650...1,237,997

G

R

myotubularin related protein 14

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:147,942,604...147,985,649
Ensembl chr 4:146,386,956...146,429,990

G

M

myotubularin related protein 14

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,214,596...113,258,353
Ensembl chr 6:113,214,804...113,258,353

G

H

myotubularin related protein 14

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393

G

N

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196

G

G

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,757,414...45,763,690

G

P

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,038,669...66,045,478

G

S

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831

G

D

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264

G

B

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

C

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793

G

R

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766

G

M

8-oxoguanine DNA-glycosylase 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029

G

H

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219

G

N

phosphoinositide-3-kinase adaptor protein 1

ClinVar Annotator: match by term: Infantile spasm

PMID:25741868 PMID:28492532

NCBI chrNW_004624737:8,021,478...8,154,543
Ensembl chrNW_004624737:8,022,836...8,154,422

G

G

phosphoinositide-3-kinase adaptor protein 1

ClinVar Annotator: match by term: Infantile spasm

PMID:25741868 PMID:28492532

NCBI chr 9:89,750,792...89,875,309

G

P

phosphoinositide-3-kinase adaptor protein 1

ClinVar Annotator: match by term: Infantile spasm

PMID:25741868 PMID:28492532

NCBI chr14:108,038,396...108,303,942
Ensembl chr14:108,039,431...108,303,929

G

S

phosphoinositide-3-kinase adaptor protein 1

ClinVar Annotator: match by term: Infantile spasm

PMID:25741868 PMID:28492532

NCBI chrNW_004936636:2,822,100...2,935,252
Ensembl chrNW_004936636:2,821,939...2,938,082

G

D

phosphoinositide-3-kinase adaptor protein 1

ClinVar Annotator: match by term: Infantile spasm

PMID:25741868 PMID:28492532

NCBI chr28:9,977,463...10,095,363
Ensembl chr28:9,978,900...10,095,284

G

B

phosphoinositide-3-kinase adaptor protein 1

ClinVar Annotator: match by term: Infantile spasm

PMID:25741868 PMID:28492532

NCBI chr10:93,210,174...93,339,545
Ensembl chr10:96,714,159...96,841,131

G

C

phosphoinositide-3-kinase adaptor protein 1

ClinVar Annotator: match by term: Infantile spasm

PMID:25741868 PMID:28492532

NCBI chrNW_004955507:2,805,782...2,918,664
Ensembl chrNW_004955507:2,801,970...2,918,670

G

R

phosphoinositide-3-kinase adaptor protein 1

ClinVar Annotator: match by term: Infantile spasm

PMID:25741868 PMID:28492532

NCBI chr 1:250,040,250...250,194,364
Ensembl chr 1:240,093,065...240,204,828

G

M

phosphoinositide-3-kinase adaptor protein 1

ClinVar Annotator: match by term: Infantile spasm

PMID:25741868 PMID:28492532

NCBI chr19:41,260,980...41,373,541
Ensembl chr19:41,260,816...41,373,541

G

H

phosphoinositide-3-kinase adaptor protein 1

ClinVar Annotator: match by term: Infantile spasm

PMID:25741868 PMID:28492532

NCBI chr10:96,593,315...96,720,514
Ensembl chr10:96,593,315...96,720,514

G

N

PRA1 domain family member 2

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chrNW_004624893:842,293...845,494
Ensembl chrNW_004624893:842,071...846,170

G

G

PRA1 domain family member 2

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:46,179,842...46,182,769
Ensembl chr X:46,179,835...46,183,552

G

P

PRA1 domain family member 2

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:43,147,473...43,150,350

G

S

PRA1 domain family member 2

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chrNW_004936721:972,095...974,738
Ensembl chrNW_004936721:971,744...975,580

G

D

PRA1 domain family member 2

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:42,218,038...42,221,075
Ensembl chr X:42,218,046...42,226,422

G

B

PRA1 domain family member 2

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:41,369,432...41,372,322
Ensembl chr X:49,224,864...49,233,960

G

C

PRA1 domain family member 2

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chrNW_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264

G

R

PRA1 domain family, member 2

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:17,445,313...17,447,950
Ensembl chr X:14,773,420...14,775,909

G

M

PRA1 domain family 2

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:7,594,810...7,597,302
Ensembl chr X:7,594,678...7,597,303

G

H

PRA1 domain family member 2

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:49,071,161...49,074,002
Ensembl chr X:49,071,161...49,074,002

G

N

proline rich transmembrane protein 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,544,664...4,552,890
Ensembl chrNW_004624731:4,544,936...4,548,677

G

G

proline rich transmembrane protein 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,970,474...45,978,764
Ensembl chr22:45,971,148...45,975,076

G

P

proline rich transmembrane protein 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449

G

S

proline rich transmembrane protein 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,252,655...3,257,400
Ensembl chrNW_004936602:3,248,628...3,257,291

G

D

proline rich transmembrane protein 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,325,232...8,333,155
Ensembl chr20:8,328,943...8,332,954

G

B

proline rich transmembrane protein 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,890,336...9,897,263
Ensembl chr 3:10,238,720...10,246,127

G

C

proline rich transmembrane protein 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,430,767...1,437,981
Ensembl chrNW_004955561:1,431,375...1,435,670

G

R

proline-rich transmembrane protein 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,196,800...148,206,086
Ensembl chr 4:146,641,173...146,650,317

G

M

proline-rich transmembrane protein 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,470,599...113,479,071
Ensembl chr 6:113,470,600...113,478,892

G

H

proline rich transmembrane protein 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,945,542...9,952,408
Ensembl chr 3:9,939,450...9,952,408

G

N

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm

NCBI chrNW_004624838:1,040,108...1,269,000
Ensembl chrNW_004624838:1,040,525...1,258,151

G

G

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm

NCBI chr24:12,344,951...12,615,669
Ensembl chr24:12,344,934...12,615,622

G

P

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm

NCBI chr 7:64,140,977...64,372,683
Ensembl chr 7:64,141,014...64,372,694

G

S

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm

NCBI chrNW_004936494:9,649,444...9,866,942
Ensembl chrNW_004936494:9,659,285...9,866,408

G

D

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm

NCBI chr 8:14,221,516...14,463,481
Ensembl chr 8:14,222,749...14,462,998

G

B

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm

NCBI chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430

G

C

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm

NCBI chrNW_004955409:25,336,503...25,582,881
Ensembl chrNW_004955409:25,337,699...25,583,657

G

R

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm

NCBI chr 6:78,712,554...78,987,486
Ensembl chr 6:72,977,432...73,252,378

G

M

Ral GTPase activating protein, alpha subunit 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm

NCBI chr12:55,649,673...55,868,522
Ensembl chr12:55,649,681...55,867,952

G

H

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm

NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304

G

N

RNA binding fox-1 homolog 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004624824:2,997,980...5,113,744
Ensembl chrNW_004624824:4,550,670...5,113,842

G

G

RNA binding fox-1 homolog 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 5:4,896,225...7,365,137

G

P

RNA binding fox-1 homolog 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 3:34,938,703...37,209,772
Ensembl chr 3:34,939,573...37,300,810

G

S

RNA binding fox-1 homolog 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004936530:5,259,612...6,843,668
Ensembl chrNW_004936530:6,306,877...6,845,073

G

D

RNA binding fox-1 homolog 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 6:34,218,276...36,255,529
Ensembl chr 6:34,220,648...36,255,384

G

B

RNA binding fox-1 homolog 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr16:4,162,659...6,640,962
Ensembl chr16:5,418,607...7,889,215

G

C

RNA binding fox-1 homolog 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004955442:10,345,261...10,694,602
Ensembl chrNW_004955442:10,344,365...10,908,434

G

R

RNA binding fox-1 homolog 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659

G

M

RNA binding protein, fox-1 homolog (C. elegans) 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr16:5,702,566...7,230,344
Ensembl chr16:5,124,665...7,229,391

G

H

RNA binding fox-1 homolog 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr16:5,239,721...7,713,340
Ensembl chr16:5,239,802...7,713,340

G

N

RNA pseudouridine synthase D3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,463,848...4,467,541
Ensembl chrNW_004624731:4,463,980...4,467,491

G

G

RNA pseudouridine synthase D3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,848,749...45,857,122
Ensembl chr22:45,848,788...45,857,117

G

P

RNA pseudouridine synthase D3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,126,126...66,133,774
Ensembl chr13:66,126,124...66,133,747

G

S

RNA pseudouridine synthase D3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,330,160...3,355,805
Ensembl chrNW_004936602:3,330,142...3,335,697

G

D

RNA pseudouridine synthase D3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,406,549...8,414,029
Ensembl chr20:8,406,571...8,413,004

G

B

RNA pseudouridine synthase D3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,788,950...9,795,189
Ensembl chr 3:10,025,320...10,031,639

G

C

RNA pseudouridine synthase D3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,358,003...1,361,634
Ensembl chrNW_004955561:1,358,197...1,361,619

G

R

RNA pseudouridine synthase D3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,108,857...148,118,246
Ensembl chr 4:146,558,562...146,562,794

G

M

RNA pseudouridylate synthase domain containing 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,392,280...113,396,309
Ensembl chr 6:113,392,280...113,396,301

G

H

RNA pseudouridine synthase D3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,837,849...9,844,008
Ensembl chr 3:9,837,849...9,844,602

G

N

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chrNW_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889

G

G

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chr10:51,490,204...51,653,916

G

P

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066

G

S

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978

G

D

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496

G

B

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014

G

C

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951

G

R

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:50,952,791...51,071,699

G

M

sodium channel, voltage-gated, type I, alpha

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184

G

H

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806

G

H

SCN1A and SCN9A antisense RNA 1

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771

G

N

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:18464934 PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 More...

NCBI chrNW_004624794:8,439,609...8,449,731
Ensembl chrNW_004624794:8,439,600...8,450,179

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G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:18464934 PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 More...

NCBI chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325

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P

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:18464934 PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 More...

NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481

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S

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:18464934 PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 More...

NCBI chrNW_004936570:1,187,916...1,195,423
Ensembl chrNW_004936570:1,186,711...1,195,388

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D

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:18464934 PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 More...

NCBI chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727

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B

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:18464934 PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 More...

NCBI chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052

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C

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:18464934 PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 More...

NCBI chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502

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R

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:18464934 PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 More...

NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:86,353,917...86,363,739

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M

sodium channel, voltage-gated, type I, beta

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:18464934 PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 More...

NCBI chr 7:30,815,949...30,826,436
Ensembl chr 7:30,815,949...30,826,428

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H

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:18464934 PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 More...

NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449

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G

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood

NCBI chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145

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P

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood

NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211

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S

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood

NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005

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D

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood

NCBI chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685

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B

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood

NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509

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C

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood

NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200

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R

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood

NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214

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M

sodium channel, voltage-gated, type II, alpha

ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood

NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791

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H

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood

NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310

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N

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:28492532

NCBI chrNW_004624816:498,737...631,850
Ensembl chrNW_004624816:499,179...631,936

G

G

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:28492532

NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399

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P

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:28492532

NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543

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S

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:28492532

NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688

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D

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:28492532

NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482

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B

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:28492532

NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357

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C

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:28492532

NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971

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R

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:28492532

NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292

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M

sodium channel, voltage-gated, type VIII, alpha

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:28492532

NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819

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H

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:28492532

NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864

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N

SEC13 homolog, nuclear pore and COPII coat complex component

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:5,194,852...5,217,821
Ensembl chrNW_004624731:5,194,961...5,217,821

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G

SEC13 homolog, nuclear pore and COPII coat complex component

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:46,336,909...46,357,435
Ensembl chr22:46,336,829...46,355,723

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P

SEC13 homolog, nuclear pore and COPII coat complex component

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,483,620...66,524,411
Ensembl chr13:66,480,169...66,524,384

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S

SEC13 homolog, nuclear pore and COPII coat complex component

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,013,490...3,030,489
Ensembl chrNW_004936602:3,013,337...3,030,486

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D

SEC13 homolog, nuclear pore and COPII coat complex component

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,041,485...8,075,078
Ensembl chr20:8,041,544...8,075,076

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B

SEC13 homolog, nuclear pore and COPII coat complex component

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,237,101...10,257,694
Ensembl chr 3:10,588,644...10,608,754

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C

SEC13 homolog, nuclear pore and COPII coat complex component

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,707,053...1,723,715
Ensembl chrNW_004955561:1,707,053...1,723,862

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R

SEC13 homolog, nuclear pore and COPII coat complex component

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,433,344...148,446,735
Ensembl chr 4:146,875,524...146,891,173

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M

SEC13 homolog, nuclear pore and COPII coat complex component

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,705,013...113,717,642
Ensembl chr 6:113,705,023...113,717,704

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H

SEC13 homolog, nuclear pore and COPII coat complex component

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,300,931...10,321,112
Ensembl chr 3:10,293,131...10,321,112

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N

semaphorin 6B

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chrNW_004624828:5,170,745...5,193,568
Ensembl chrNW_004624828:5,182,812...5,192,486

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G

semaphorin 6B

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr 6:4,276,548...4,304,738

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P

semaphorin 6B

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr 2:74,262,303...74,296,386
Ensembl chr 2:74,258,439...74,296,385

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S

semaphorin 6B

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chrNW_004936588:2,642,730...2,654,520
Ensembl chrNW_004936588:2,642,859...2,653,742

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D

semaphorin 6B

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr20:55,151,913...55,173,434
Ensembl chr20:55,161,818...55,173,135

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B

semaphorin 6B

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr19:3,562,673...3,600,981

G

C

semaphorin 6B

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chrNW_004955495:4,387,147...4,399,430
Ensembl chrNW_004955495:4,388,516...4,399,313

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R

semaphorin 6B

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:950,939...961,521

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M

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr17:56,430,085...56,447,343
Ensembl chr17:56,430,085...56,447,343

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H

semaphorin 6B

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr19:4,542,593...4,559,684
Ensembl chr19:4,542,588...4,581,776

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N

solute carrier family 13 member 5

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More...

NCBI chrNW_004624786:7,321,622...7,357,270
Ensembl chrNW_004624786:7,322,188...7,357,220

G

G

solute carrier family 13 member 5

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More...

NCBI chr16:6,060,445...6,089,867

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P

solute carrier family 13 member 5

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More...

NCBI chr12:50,679,900...50,710,985
Ensembl chr12:50,680,444...50,705,261

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S

solute carrier family 13 member 5

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More...

NCBI chrNW_004936677:1,288,637...1,316,884
Ensembl chrNW_004936677:1,288,456...1,318,221

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D

solute carrier family 13 member 5

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More...

NCBI chr 5:30,655,167...30,677,551
Ensembl chr 5:30,655,760...30,674,653

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B

solute carrier family 13 member 5

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More...

NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683

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C

solute carrier family 13 member 5

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More...

NCBI chrNW_004955467:12,181,555...12,217,280
Ensembl chrNW_004955467:12,182,766...12,216,842

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R

solute carrier family 13 member 5

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More...

NCBI chr10:57,364,806...57,389,500
Ensembl chr10:56,866,249...56,890,945

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M

solute carrier family 13 (sodium-dependent citrate transporter), member 5

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More...

NCBI chr11:72,132,816...72,158,092
Ensembl chr11:72,132,815...72,158,048

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H

solute carrier family 13 member 5

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More...

NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377

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N

solute carrier family 2 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037

G

G

solute carrier family 2 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033

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P

solute carrier family 2 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867

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S

solute carrier family 2 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713

G

D

solute carrier family 2 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140

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B

solute carrier family 2 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

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C

solute carrier family 2 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511

G

R

solute carrier family 2 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416

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M

solute carrier family 2 (facilitated glucose transporter), member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180

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H

solute carrier family 2 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893

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N

solute carrier family 6 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chrNW_004624943:632,534...662,924
Ensembl chrNW_004624943:631,632...662,902

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G

solute carrier family 6 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chr22:47,033,436...47,076,785
Ensembl chr22:47,033,467...47,078,844

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P

solute carrier family 6 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chr13:67,156,786...67,199,092
Ensembl chr13:67,179,765...67,197,107

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S

solute carrier family 6 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chrNW_004936602:2,359,151...2,397,346
Ensembl chrNW_004936602:2,357,607...2,379,061

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D

solute carrier family 6 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chr20:7,341,071...7,383,197
Ensembl chr20:7,341,072...7,383,287

G

B

solute carrier family 6 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chr 3:10,930,455...10,976,968
Ensembl chr 3:11,296,023...11,323,624

G

C

solute carrier family 6 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chrNW_004955429:13,930,899...13,946,010
Ensembl chrNW_004955429:13,930,905...13,947,389

G

R

solute carrier family 6 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chr 4:149,004,447...149,037,840
Ensembl chr 4:147,466,965...147,482,293

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M

solute carrier family 6 (neurotransmitter transporter, GABA), member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493

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H

solute carrier family 6 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure
ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: SLC6A1-related condition
ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247

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H

SLC6A1 antisense RNA 1

ClinVar Annotator: match by term: SLC6A1-related condition
ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure
ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: SLC6A1-related condition

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chr 3:11,006,098...11,019,224
Ensembl chr 3:11,006,098...11,019,224

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N

solute carrier family 6 member 11

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624943:694,447...803,993
Ensembl chrNW_004624943:692,513...804,023

G

G

solute carrier family 6 member 11

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:46,857,117...46,978,652
Ensembl chr22:46,857,569...46,978,088

G

P

solute carrier family 6 member 11

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,998,113...67,115,918
Ensembl chr13:66,998,336...67,115,907

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S

solute carrier family 6 member 11

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:2,437,653...2,564,309
Ensembl chrNW_004936602:2,439,813...2,564,313

G

D

solute carrier family 6 member 11

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:7,431,015...7,559,903
Ensembl chr20:7,433,194...7,560,564

G

B

solute carrier family 6 member 11

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,753,412...10,878,333
Ensembl chr 3:11,101,336...11,222,948

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C

solute carrier family 6 member 11

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955429:13,774,455...13,880,690
Ensembl chrNW_004955429:13,774,455...13,880,690

G

R

solute carrier family 6 member 11

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,853,557...148,968,895
Ensembl chr 4:147,297,969...147,413,443

G

M

solute carrier family 6 (neurotransmitter transporter, GABA), member 11

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:114,108,202...114,226,847
Ensembl chr 6:114,108,202...114,226,913

G

H

solute carrier family 6 member 11

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,816,228...10,940,714
Ensembl chr 3:10,816,201...10,940,714

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N

SPOUT domain containing methyltransferase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:38260255

NCBI chrNW_004624760:6,186,779...6,193,519
Ensembl chrNW_004624760:6,186,901...6,196,374

G

G

SPOUT domain containing methyltransferase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:38260255

NCBI chr12:9,314,991...9,323,455

G

P

SPOUT domain containing methyltransferase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:38260255

NCBI chr 1:269,157,173...269,167,154
Ensembl chr 1:269,157,176...269,167,087

G

S

SPOUT domain containing methyltransferase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:38260255

NCBI chrNW_004936487:16,284,921...16,291,572
Ensembl chrNW_004936487:16,285,546...16,291,534

G

D

SPOUT domain containing methyltransferase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:38260255

NCBI chr 9:54,802,145...54,811,709
Ensembl chr 9:54,802,214...54,810,039

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B

SPOUT domain containing methyltransferase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:38260255

NCBI chr 9:99,945,345...99,953,692
Ensembl chr 9:128,613,437...128,620,450

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C

SPOUT domain containing methyltransferase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:38260255

NCBI chrNW_004955570:1,202,987...1,211,052
Ensembl chrNW_004955570:1,204,040...1,211,020

G

R

SPOUT domain containing methyltransferase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:38260255

NCBI chr 3:33,849,007...33,856,564
Ensembl chr 3:13,451,202...13,493,355

G

M

SPOUT domain containing methyltransferase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:38260255

NCBI chr 2:30,063,458...30,068,506
Ensembl chr 2:30,063,465...30,068,471

G

H

SPOUT domain containing methyltransferase 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25741868 PMID:38260255

NCBI chr 9:128,819,651...128,829,794
Ensembl chr 9:128,819,651...128,829,794

G

N

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004624807:4,937,573...5,169,104
Ensembl chrNW_004624807:4,935,472...5,169,050

G

G

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr25:22,897,699...23,147,097
Ensembl chr25:22,897,469...23,145,218

G

P

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 9:66,838,062...67,117,315
Ensembl chr 9:66,838,123...67,117,315

G

S

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004936557:6,096,258...6,338,024
Ensembl chrNW_004936557:6,096,246...6,338,108

G

D

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr38:2,506,617...2,741,866

G

B

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 1:181,808,318...182,064,583
Ensembl chr 1:186,092,113...186,346,019

G

C

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chrNW_004955406:41,801,235...42,050,731
Ensembl chrNW_004955406:41,801,235...42,050,731

G

R

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr13:45,298,192...45,519,330
Ensembl chr13:42,745,947...42,967,058

G

M

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 1:131,212,989...131,455,269
Ensembl chr 1:131,212,989...131,455,090

G

H

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 1:206,203,541...206,464,436
Ensembl chr 1:206,203,346...206,464,436

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N

syntaxin binding protein 1

ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm

PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More...

NCBI chrNW_004624760:7,843,741...7,914,444
Ensembl chrNW_004624760:7,842,640...7,914,484

G

G

syntaxin binding protein 1

ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm

PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More...

NCBI chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777

G

P

syntaxin binding protein 1

ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm

PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More...

NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778

G

S

syntaxin binding protein 1

ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm

PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More...

NCBI chrNW_004936487:15,300,758...15,367,475
Ensembl chrNW_004936487:15,300,952...15,365,713

G

D

syntaxin binding protein 1

ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm

PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More...

NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680

G

B

syntaxin binding protein 1

ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm

PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More...

NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152

G

C

syntaxin binding protein 1

ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm

PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More...

NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759

G

R

syntaxin binding protein 1

ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm

PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More...

NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369

G

M

syntaxin binding protein 1

ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm

PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More...

NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257

G

H

syntaxin binding protein 1

ClinVar Annotator: match by term: Infantile spasm
ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More...

NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027

G

N

transcriptional adaptor 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:4,409,550...4,420,498
Ensembl chrNW_004624731:4,408,918...4,419,545

G

G

transcriptional adaptor 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,787,945...45,799,529
Ensembl chr22:45,786,012...45,798,019

G

P

transcriptional adaptor 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,067,623...66,080,170
Ensembl chr13:66,067,632...66,080,023

G

S

transcriptional adaptor 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,375,971...3,388,787
Ensembl chrNW_004936602:3,376,033...3,388,820

G

D

transcriptional adaptor 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,453,269...8,464,921
Ensembl chr20:8,453,489...8,464,913

G

B

transcriptional adaptor 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,731,462...9,744,513
Ensembl chr 3:9,969,550...9,982,389

G

C

transcriptional adaptor 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,304,222...1,314,092
Ensembl chrNW_004955561:1,304,232...1,348,121

G

R

transcriptional adaptor 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,065,859...148,077,347
Ensembl chr 4:146,510,246...146,521,590

G

M

transcriptional adaptor 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,343,594...113,354,799
Ensembl chr 6:113,342,986...113,354,844

G

H

transcriptional adaptor 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,779,967...9,793,011
Ensembl chr 3:9,779,967...9,793,011

G

N

TatD DNase domain containing 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:5,263,741...5,289,601
Ensembl chrNW_004624731:5,262,848...5,289,717

G

G

TatD DNase domain containing 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:46,284,624...46,321,473
Ensembl chr22:46,284,685...46,321,710

G

P

TatD DNase domain containing 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,421,472...66,441,978
Ensembl chr13:66,422,345...66,441,980

G

S

TatD DNase domain containing 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,047,798...3,072,216
Ensembl chrNW_004936602:3,048,006...3,072,684

G

D

TatD DNase domain containing 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,101,994...8,131,578

G

B

TatD DNase domain containing 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,184,220...10,217,099
Ensembl chr 3:10,536,852...10,568,824

G

C

TatD DNase domain containing 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,653,471...1,673,260
Ensembl chrNW_004955561:1,653,471...1,671,407

G

R

TatD DNase domain containing 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,400,454...148,416,501
Ensembl chr 4:146,845,156...146,860,897

G

M

TatD DNase domain containing 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,674,090...113,688,030
Ensembl chr 6:113,674,011...113,688,030

G

H

TatD DNase domain containing 2

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,248,459...10,281,218
Ensembl chr 3:10,248,023...10,281,218

G

N

TBC1 domain family member 24

DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)

NCBI chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249

G

G

TBC1 domain family member 24

DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)

NCBI chr 5:2,353,543...2,378,950

G

P

TBC1 domain family member 24

DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)

NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277

G

S

TBC1 domain family member 24

DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)

NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201

G

D

TBC1 domain family member 24

DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)

NCBI chr 6:38,531,547...38,557,472

G

B

TBC1 domain family member 24

DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)

NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912

G

C

TBC1 domain family member 24

DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)

NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224

G

R

TBC1 domain family, member 24

DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)

RGD

NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,209,895...13,236,050

G

M

TBC1 domain family, member 24

DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)

RGD

NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536

G

H

TBC1 domain family member 24

DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)

RGD

NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671

G

G

tubulin tyrosine ligase like 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:45,817,048...45,843,878

G

P

tubulin tyrosine ligase like 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,094,069...66,123,984
Ensembl chr13:66,056,890...66,123,977

G

D

tubulin tyrosine ligase like 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,414,289...8,439,071
Ensembl chr20:8,415,723...8,439,056

G

B

tubulin tyrosine ligase like 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,759,871...9,786,690
Ensembl chr 3:9,999,144...10,035,633

G

C

tubulin tyrosine ligase like 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,330,378...1,353,217

G

R

tubulin tyrosine ligase like 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,088,575...148,113,526
Ensembl chr 4:146,533,953...146,557,889

G

M

tubulin tyrosine ligase-like family, member 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,366,221...113,391,553
Ensembl chr 6:113,366,221...113,391,548

G

H

tubulin tyrosine ligase like 3

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:9,809,727...9,836,365
Ensembl chr 3:9,808,086...9,855,138

G

N

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004624731:5,350,912...5,359,286

G

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428

G

P

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654

G

S

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004936602:3,135,790...3,140,622

G

D

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323

G

B

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

G

C

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511

G

R

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377

G

M

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594

G

H

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure

PMID:25865495 PMID:28492532 PMID:31401500

NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676

G

N

WD repeat domain 45

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chrNW_004624893:845,689...852,221
Ensembl chrNW_004624893:845,701...852,244

G

G

WD repeat domain 45

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:46,183,278...46,188,564
Ensembl chr X:46,183,443...46,188,536

G

P

WD repeat domain 45

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:43,150,691...43,155,981
Ensembl chr X:43,147,477...43,156,234

G

S

WD repeat domain 45

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chrNW_004936721:975,113...981,149
Ensembl chrNW_004936721:975,104...981,731

G

D

WD repeat domain 45

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:42,221,261...42,237,535
Ensembl chr X:42,218,046...42,226,422

G

B

WD repeat domain 45

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:41,372,722...41,400,441
Ensembl chr X:49,224,864...49,233,960

G

C

WD repeat domain 45

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963

G

R

WD repeat domain 45

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:17,448,195...17,454,117
Ensembl chr X:14,776,293...14,782,202

G

M

WD repeat domain 45

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:7,588,212...7,594,439
Ensembl chr X:7,580,572...7,594,445

G

H

WD repeat domain 45

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:49,074,442...49,101,178
Ensembl chr X:49,074,433...49,101,170

Term paths to the root

Path 1
Term	Annotations
disease	288179
disease of anatomical entity	271815
nervous system disease	190640
Neurologic Manifestations	126178
visual epilepsy	1955
myoclonic-atonic epilepsy	518
Path 2
Term	Annotations
disease	288179
Pathological Conditions, Signs and Symptoms	178736
Signs and Symptoms	137100
Neurologic Manifestations	126178
sensory system disease	89068
eye disease	42489
visual pathway disease	1997
visual cortex disease	1967
visual epilepsy	1955
myoclonic-atonic epilepsy	518

paths to the root