developmental and epileptic encephalopathy 11 - Ontology Report - Rat Genome Database

developmental and epileptic encephalopathy 11 - 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:	developmental and epileptic encephalopathy 11	go back to main search page
Accession:	DOID:0080421	browse the term
Definition:	A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. (DO)
Synonyms:	exact_synonym:	DEE11; EIEE11; SCN2A-RELATED GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; early infantile epileptic encephalopathy 11
	narrow_synonym:	EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES
	broad_synonym:	COMPLEX NEURODEVELOPMENTAL DISORDER; SCN2A-related disorder
	xref:	MIM:613721; MONDO:0013388; NCI:C172096

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Genes (313) Variants (558) Cell Lines (3)

developmental and epileptic encephalopathy 11

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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ankyrin 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chrNW_004624838:6,490,434...7,023,945
Ensembl chrNW_004624838:6,548,159...7,023,945

G

G

ankyrin 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519

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P

ankyrin 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908

G

S

ankyrin 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chrNW_004936563:3,520,195...4,170,716
Ensembl chrNW_004936563:3,520,193...4,171,362

G

D

ankyrin 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036

G

B

ankyrin 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905

G

C

ankyrin 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261

G

R

ankyrin 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923

G

M

ankyrin 2, brain

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999

G

H

ankyrin 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221

G

N

ankyrin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004624791:3,299,287...3,633,631

G

G

ankyrin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 9:70,549,665...71,253,928
Ensembl chr 9:70,893,260...71,254,245

G

P

ankyrin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr14:63,416,154...63,809,220
Ensembl chr14:63,416,161...64,194,128

G

S

ankyrin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004936614:2,664,594...2,976,174

G

D

ankyrin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 4:12,166,275...12,827,175
Ensembl chr 4:12,167,550...12,827,037

G

B

ankyrin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr10:56,560,589...57,269,952
Ensembl chr10:58,790,696...59,602,954

G

C

ankyrin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004955425:13,522,233...13,851,286

G

R

ankyrin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300

G

M

ankyrin 3, epithelial

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr10:69,234,608...69,863,266
Ensembl chr10:69,234,603...69,863,268

G

H

ankyrin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr10:60,026,298...60,733,528
Ensembl chr10:60,026,298...60,733,490

G

N

BR serine/threonine kinase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004624766:21,296,115...21,334,054
Ensembl chrNW_004624766:21,296,120...21,334,040

G

G

BR serine/threonine kinase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

G

P

BR serine/threonine kinase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 2:896,720...953,908
Ensembl chr 2:896,585...953,108

G

S

BR serine/threonine kinase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004936816:307,736...335,953
Ensembl chrNW_004936816:307,250...334,785

G

D

BR serine/threonine kinase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr18:45,666,489...45,688,950
Ensembl chr18:45,628,970...45,689,494

G

B

BR serine/threonine kinase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr11:1,424,873...1,495,630
Ensembl chr11:1,473,129...1,521,339

G

C

BR serine/threonine kinase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004955476:10,911,515...10,951,544
Ensembl chrNW_004955476:10,911,515...10,929,183

G

R

BR serine/threonine kinase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 1:197,035,505...197,088,624
Ensembl chr 1:197,035,633...197,088,092

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M

BR serine/threonine kinase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 7:141,503,488...141,557,981
Ensembl chr 7:141,503,488...141,557,984

G

H

BR serine/threonine kinase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr11:1,389,934...1,462,689
Ensembl chr11:1,389,899...1,462,689

G

N

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23708187 PMID:24207121 PMID:24614520 PMID:25326635 PMID:25741868 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: Complex neurodevelopmental disorder

PMID:23708187 PMID:24207121 PMID:24614520 PMID:25326635 PMID:25741868 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: Complex neurodevelopmental disorder

PMID:23708187 PMID:24207121 PMID:24614520 PMID:25326635 PMID:25741868 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: Complex neurodevelopmental disorder

PMID:23708187 PMID:24207121 PMID:24614520 PMID:25326635 PMID:25741868 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: Complex neurodevelopmental disorder

PMID:23708187 PMID:24207121 PMID:24614520 PMID:25326635 PMID:25741868 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: Complex neurodevelopmental disorder

PMID:23708187 PMID:24207121 PMID:24614520 PMID:25326635 PMID:25741868 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: Complex neurodevelopmental disorder

PMID:23708187 PMID:24207121 PMID:24614520 PMID:25326635 PMID:25741868 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: Complex neurodevelopmental disorder

PMID:23708187 PMID:24207121 PMID:24614520 PMID:25326635 PMID:25741868 More...

NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502

G

M

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23708187 PMID:24207121 PMID:24614520 PMID:25326635 PMID:25741868 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: Complex neurodevelopmental disorder

PMID:23708187 PMID:24207121 PMID:24614520 PMID:25326635 PMID:25741868 More...

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

G

N

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004624787:3,308,502...3,506,450
Ensembl chrNW_004624787:3,308,484...3,500,852

G

G

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr10:50,967,138...51,184,378
Ensembl chr10:51,073,480...51,182,389

G

P

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,141,621...72,233,832

G

S

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004936469:13,628,830...13,808,970
Ensembl chrNW_004936469:13,631,182...13,770,257

G

D

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr36:10,664,555...10,863,366
Ensembl chr36:10,664,365...10,850,520

G

B

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348

G

C

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004955449:8,450,292...8,635,393
Ensembl chrNW_004955449:8,460,577...8,635,417

G

R

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950

G

M

cysteine-serine-rich nuclear protein 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 2:65,675,628...65,866,958
Ensembl chr 2:65,676,111...65,861,890

G

H

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407

G

N

catenin delta 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004624751:8,160,520...9,049,871
Ensembl chrNW_004624751:8,161,442...9,049,685

G

G

catenin delta 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 4:10,499,822...11,426,432
Ensembl chr 4:10,500,761...10,762,677

G

P

catenin delta 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr16:508,630...1,521,773
Ensembl chr16:508,637...1,521,749

G

S

catenin delta 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004936643:2,945,994...3,799,321
Ensembl chrNW_004936643:2,946,899...3,358,093

G

D

catenin delta 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr34:2,521,730...3,438,218
Ensembl chr34:2,521,724...3,437,292

G

B

catenin delta 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 5:11,288,652...12,227,569

G

C

catenin delta 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004955426:635,287...1,007,389
Ensembl chrNW_004955426:636,225...1,350,784

G

R

catenin delta 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 2:81,168,525...82,016,495
Ensembl chr 2:81,167,117...82,015,764

G

M

catenin delta 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr15:30,172,680...31,029,490
Ensembl chr15:30,172,739...31,029,487

G

H

catenin delta 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446

G

N

cullin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32341456

NCBI chrNW_004624823:767,347...854,065
Ensembl chrNW_004624823:766,780...852,727

G

G

cullin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32341456

NCBI chr10:110,425,895...110,541,431
Ensembl chr10:110,425,076...110,541,538

G

P

cullin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32341456

NCBI chr15:126,191,605...126,287,148
Ensembl chr15:126,189,851...126,287,005

G

S

cullin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32341456

NCBI chrNW_004936569:6,067,230...6,131,467
Ensembl chrNW_004936569:6,065,367...6,132,316

G

D

cullin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32341456

NCBI chr25:37,730,903...37,819,851
Ensembl chr25:37,733,229...37,800,886

G

B

cullin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32341456

NCBI chr2B:111,714,533...111,827,080
Ensembl chr2B:230,289,195...230,378,991

G

C

cullin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32341456

NCBI chrNW_004955453:9,546,554...9,629,976
Ensembl chrNW_004955453:9,564,522...9,629,976

G

R

cullin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32341456

NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462

G

M

cullin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32341456

NCBI chr 1:80,242,640...80,318,426
Ensembl chr 1:80,242,640...80,318,197

G

H

cullin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32341456

NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397

G

N

dual specificity tyrosine phosphorylation regulated kinase 1A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:9536098 PMID:17576681 PMID:24088041 PMID:25326635 PMID:25741868 More...

NCBI chrNW_004624745:26,180,858...26,316,848
Ensembl chrNW_004624745:26,180,864...26,315,234

G

G

dual specificity tyrosine phosphorylation regulated kinase 1A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:9536098 PMID:17576681 PMID:24088041 PMID:25326635 PMID:25741868 More...

NCBI chr 2:81,318,509...81,467,227
Ensembl chr 2:81,425,902...81,467,677

G

P

dual specificity tyrosine phosphorylation regulated kinase 1A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:9536098 PMID:17576681 PMID:24088041 PMID:25326635 PMID:25741868 More...

NCBI chr13:201,008,506...201,159,946
Ensembl chr13:201,009,480...201,159,948

G

S

dual specificity tyrosine phosphorylation regulated kinase 1A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:9536098 PMID:17576681 PMID:24088041 PMID:25326635 PMID:25741868 More...

NCBI chrNW_004936500:5,317,109...5,423,593
Ensembl chrNW_004936500:5,316,164...5,404,353

G

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dual specificity tyrosine phosphorylation regulated kinase 1A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:9536098 PMID:17576681 PMID:24088041 PMID:25326635 PMID:25741868 More...

NCBI chr31:32,564,970...32,655,232
Ensembl chr31:32,511,502...32,652,572

G

B

dual specificity tyrosine phosphorylation regulated kinase 1A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:9536098 PMID:17576681 PMID:24088041 PMID:25326635 PMID:25741868 More...

NCBI chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987

G

C

dual specificity tyrosine phosphorylation regulated kinase 1A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:9536098 PMID:17576681 PMID:24088041 PMID:25326635 PMID:25741868 More...

NCBI chrNW_004955407:36,456,628...36,588,940
Ensembl chrNW_004955407:36,453,098...36,589,382

G

R

dual specificity tyrosine phosphorylation regulated kinase 1A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:9536098 PMID:17576681 PMID:24088041 PMID:25326635 PMID:25741868 More...

NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420

G

M

dual-specificity tyrosine phosphorylation regulated kinase 1a

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:9536098 PMID:17576681 PMID:24088041 PMID:25326635 PMID:25741868 More...

NCBI chr16:94,370,770...94,496,378
Ensembl chr16:94,370,869...94,496,376

G

H

dual specificity tyrosine phosphorylation regulated kinase 1A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:9536098 PMID:17576681 PMID:24088041 PMID:25326635 PMID:25741868 More...

NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358

G

N

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004624787:3,557,946...3,613,235
Ensembl chrNW_004624787:3,559,903...3,591,615

G

G

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr10:51,237,150...51,284,301
Ensembl chr10:51,236,756...51,259,062

G

P

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435

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S

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657

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D

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr36:10,895,366...10,990,848
Ensembl chr36:10,896,128...10,919,000

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B

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231

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C

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004955449:8,365,951...8,406,988
Ensembl chrNW_004955449:8,379,164...8,406,988

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R

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268

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M

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 2:65,913,110...65,955,217
Ensembl chr 2:65,913,110...65,955,338

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H

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201

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N

glutamate ionotropic receptor NMDA type subunit 2A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:28109652 PMID:28492532 PMID:30544257

NCBI chrNW_004624824:7,128,169...7,513,360
Ensembl chrNW_004624824:7,137,909...7,507,910

G

G

glutamate ionotropic receptor NMDA type subunit 2A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:28109652 PMID:28492532 PMID:30544257

NCBI chr 5:9,233,028...9,707,322
Ensembl chr 5:9,286,775...9,462,828

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P

glutamate ionotropic receptor NMDA type subunit 2A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:28109652 PMID:28492532 PMID:30544257

NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,750,700...33,143,499

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S

glutamate ionotropic receptor NMDA type subunit 2A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:28109652 PMID:28492532 PMID:30544257

NCBI chrNW_004936530:8,286,101...8,612,183
Ensembl chrNW_004936530:8,287,574...8,608,343

G

D

glutamate ionotropic receptor NMDA type subunit 2A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:28109652 PMID:28492532 PMID:30544257

NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960

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B

glutamate ionotropic receptor NMDA type subunit 2A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:28109652 PMID:28492532 PMID:30544257

NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167

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C

glutamate ionotropic receptor NMDA type subunit 2A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:28109652 PMID:28492532 PMID:30544257

NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059

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R

glutamate ionotropic receptor NMDA type subunit 2A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:28109652 PMID:28492532 PMID:30544257

NCBI chr10:6,136,458...6,560,003
Ensembl chr10:5,631,369...6,044,637

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M

glutamate receptor, ionotropic, NMDA2A (epsilon 1)

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:28109652 PMID:28492532 PMID:30544257

NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424

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H

glutamate ionotropic receptor NMDA type subunit 2A

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:28109652 PMID:28492532 PMID:30544257

NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337

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N

glutamate ionotropic receptor NMDA type subunit 2B

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23020937 PMID:24272827 PMID:25326635 PMID:25356899 PMID:25741868 More...

NCBI chrNW_004624752:24,008,520...24,480,834
Ensembl chrNW_004624752:24,135,487...24,459,288

G

G

glutamate ionotropic receptor NMDA type subunit 2B

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23020937 PMID:24272827 PMID:25326635 PMID:25356899 PMID:25741868 More...

NCBI chr11:13,444,155...13,873,034
Ensembl chr11:13,456,968...13,873,202

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P

glutamate ionotropic receptor NMDA type subunit 2B

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23020937 PMID:24272827 PMID:25326635 PMID:25356899 PMID:25741868 More...

NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558

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S

glutamate ionotropic receptor NMDA type subunit 2B

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23020937 PMID:24272827 PMID:25326635 PMID:25356899 PMID:25741868 More...

NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664

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D

glutamate ionotropic receptor NMDA type subunit 2B

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23020937 PMID:24272827 PMID:25326635 PMID:25356899 PMID:25741868 More...

NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680

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B

glutamate ionotropic receptor NMDA type subunit 2B

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23020937 PMID:24272827 PMID:25326635 PMID:25356899 PMID:25741868 More...

NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799

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C

glutamate ionotropic receptor NMDA type subunit 2B

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23020937 PMID:24272827 PMID:25326635 PMID:25356899 PMID:25741868 More...

NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145

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R

glutamate ionotropic receptor NMDA type subunit 2B

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23020937 PMID:24272827 PMID:25326635 PMID:25356899 PMID:25741868 More...

NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279

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M

glutamate receptor, ionotropic, NMDA2B (epsilon 2)

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23020937 PMID:24272827 PMID:25326635 PMID:25356899 PMID:25741868 More...

NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509

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H

glutamate ionotropic receptor NMDA type subunit 2B

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:23020937 PMID:24272827 PMID:25326635 PMID:25356899 PMID:25741868 More...

NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002

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N

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:2753503 PMID:4055306 PMID:9425895 PMID:9872318 PMID:11175290 More...

NCBI chrNW_004624741:29,089,894...29,143,681
Ensembl chrNW_004624741:29,091,119...29,143,589

G

G

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:2753503 PMID:4055306 PMID:9425895 PMID:9872318 PMID:11175290 More...

NCBI chr 2:739,965...803,575
Ensembl chr 2:761,952...802,999

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P

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:2753503 PMID:4055306 PMID:9425895 PMID:9872318 PMID:11175290 More...

NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,281...62,506,424

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S

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:2753503 PMID:4055306 PMID:9425895 PMID:9872318 PMID:11175290 More...

NCBI chrNW_004936514:10,735,247...10,787,682
Ensembl chrNW_004936514:10,735,809...10,787,678

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D

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:2753503 PMID:4055306 PMID:9425895 PMID:9872318 PMID:11175290 More...

NCBI chr24:47,060,527...47,089,077
Ensembl chr24:47,060,245...47,089,711

G

B

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:2753503 PMID:4055306 PMID:9425895 PMID:9872318 PMID:11175290 More...

Ensembl chr20:61,325,365...61,395,266

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C

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:2753503 PMID:4055306 PMID:9425895 PMID:9872318 PMID:11175290 More...

NCBI chrNW_004955528:737,416...792,885
Ensembl chrNW_004955528:737,416...791,321

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R

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:2753503 PMID:4055306 PMID:9425895 PMID:9872318 PMID:11175290 More...

NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071

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M

potassium voltage-gated channel, subfamily Q, member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:2753503 PMID:4055306 PMID:9425895 PMID:9872318 PMID:11175290 More...

NCBI chr 2:180,717,372...180,777,368
Ensembl chr 2:180,717,372...180,777,093

G

H

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:2753503 PMID:4055306 PMID:9425895 PMID:9872318 PMID:11175290 More...

NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677

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N

lysine methyltransferase 2E (inactive)

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chrNW_004624739:24,371,415...24,476,245
Ensembl chrNW_004624739:24,372,237...24,476,137

G

G

lysine methyltransferase 2E (inactive)

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr21:73,930,957...74,030,434
Ensembl chr21:73,930,932...74,029,673

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P

lysine methyltransferase 2E (inactive)

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 9:104,876,301...105,007,161
Ensembl chr 9:104,911,821...105,007,084

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S

lysine methyltransferase 2E (inactive)

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chrNW_004936479:18,674,657...18,764,177
Ensembl chrNW_004936479:18,675,413...18,738,983

G

D

lysine methyltransferase 2E (inactive)

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr18:15,240,631...15,332,850
Ensembl chr18:15,239,994...15,332,828

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B

lysine methyltransferase 2E (inactive)

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 7:97,001,250...97,099,956
Ensembl chr 7:109,734,808...109,832,851

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C

lysine methyltransferase 2E (inactive)

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chrNW_004955410:9,714,587...9,808,021

G

R

lysine methyltransferase 2E

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373

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M

lysine (K)-specific methyltransferase 2E

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 5:23,638,034...23,709,233
Ensembl chr 5:23,639,439...23,709,233

G

H

lysine methyltransferase 2E (inactive)

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019

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H

uncharacterized LOC100506124

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

NCBI chr 2:165,857,475...165,871,941

G

G

bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:27431290 PMID:28492532 PMID:30059600 PMID:33058507

NCBI chr12:46,260,652...46,274,678

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H

Sharpr-MPRA regulatory region 13511

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

NCBI chr 2:165,293,739...165,294,033

G

H

BRD4-independent group 4 enhancer GRCh37_chr2:166317128-166318327

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

NCBI chr 2:165,460,618...165,461,817

G

H

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:93523977-93525176

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr15:92,980,747...92,981,946

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H

MPRA-validated peak3912 silencer

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

NCBI chr 2:165,574,005...165,574,205

G

H

ATAC-STARR-seq lymphoblastoid silent region 12066

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

NCBI chr 2:165,193,304...165,193,353

G

H

ATAC-STARR-seq lymphoblastoid active region 16726

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

NCBI chr 2:165,595,066...165,595,115

G

H

ATAC-STARR-seq lymphoblastoid active region 16727

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

NCBI chr 2:165,595,186...165,595,235

G

H

ATAC-STARR-seq lymphoblastoid active region 16728

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

NCBI chr 2:165,874,554...165,874,753

G

H

ATAC-STARR-seq lymphoblastoid active region 16729

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

NCBI chr 2:165,898,024...165,898,113

G

N

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:31010896

NCBI chrNW_004624780:5,473,172...5,483,584
Ensembl chrNW_004624780:5,473,041...5,483,300

G

G

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:31010896

NCBI chr 8:36,184,928...36,198,689
Ensembl chr 8:36,182,380...36,198,704

G

P

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:31010896

NCBI chr15:48,348,653...48,360,004
Ensembl chr15:48,348,648...48,365,106

G

S

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:31010896

NCBI chrNW_004936710:1,546,027...1,551,685
Ensembl chrNW_004936710:1,545,790...1,552,394

G

D

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:31010896

NCBI chr16:27,304,257...27,315,389
Ensembl chr16:27,304,198...27,315,233

G

B

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:31010896

NCBI chr 8:37,465,986...37,479,186
Ensembl chr 8:34,642,938...34,656,142

G

C

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:31010896

NCBI chrNW_004955463:13,775,639...13,788,784
Ensembl chrNW_004955463:13,773,869...13,788,784

G

R

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:31010896

NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852

G

M

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:31010896

NCBI chr 8:26,275,326...26,294,003
Ensembl chr 8:26,275,316...26,294,003

G

H

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:31010896

NCBI chr 8:38,163,321...38,176,730
Ensembl chr 8:38,163,335...38,176,730

G

N

methyl-CpG binding domain protein 5

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chrNW_004624866:1,003,279...1,162,545
Ensembl chrNW_004624866:1,105,616...1,162,288

G

G

methyl-CpG binding domain protein 5

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr10:33,401,903...33,907,307
Ensembl chr10:33,743,166...33,904,508

G

P

methyl-CpG binding domain protein 5

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr15:3,649,859...4,096,459
Ensembl chr15:3,659,012...3,725,208

G

S

methyl-CpG binding domain protein 5

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chrNW_004936469:28,748,499...28,889,679
Ensembl chrNW_004936469:28,744,814...28,802,776

G

D

methyl-CpG binding domain protein 5

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr19:49,815,388...50,250,071
Ensembl chr19:50,186,364...50,247,398

G

B

methyl-CpG binding domain protein 5

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr2B:11,347,218...11,842,644
Ensembl chr2B:152,754,368...152,874,042

G

C

methyl-CpG binding domain protein 5

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chrNW_004955440:14,267,802...14,412,949
Ensembl chrNW_004955440:14,270,407...14,413,597

G

R

methyl-CpG binding domain protein 5

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156

G

M

methyl-CpG binding domain protein 5

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 2:48,839,511...49,209,702
Ensembl chr 2:48,839,520...49,215,417

G

H

methyl-CpG binding domain protein 5

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28492532

NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971

G

N

NCK associated protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28940097 PMID:33157009

NCBI chrNW_004624844:4,679,840...4,773,617
Ensembl chrNW_004624844:4,676,741...4,773,538

G

G

NCK associated protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28940097 PMID:33157009

NCBI chr10:68,434,839...68,546,431
Ensembl chr10:68,433,258...68,545,990

G

P

NCK associated protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28940097 PMID:33157009

NCBI chr15:88,425,861...88,528,417
Ensembl chr15:88,425,142...88,528,326

G

S

NCK associated protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28940097 PMID:33157009

NCBI chrNW_004936509:11,525,764...11,624,833
Ensembl chrNW_004936509:11,524,556...11,624,621

G

D

NCK associated protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28940097 PMID:33157009

NCBI chr36:25,965,243...26,054,775
Ensembl chr36:25,965,938...26,054,760

G

B

NCK associated protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28940097 PMID:33157009

NCBI chr2B:70,193,950...70,308,442
Ensembl chr2B:188,003,235...188,116,710

G

C

NCK associated protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28940097 PMID:33157009

NCBI chrNW_004955403:14,476,689...14,554,380
Ensembl chrNW_004955403:14,480,162...14,554,702

G

R

NCK-associated protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28940097 PMID:33157009

NCBI chr 3:65,417,450...65,491,769
Ensembl chr 3:65,417,453...65,492,217

G

M

NCK-associated protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28940097 PMID:33157009

NCBI chr 2:80,330,856...80,411,526
Ensembl chr 2:80,330,856...80,411,724

G

H

NCK associated protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:28940097 PMID:33157009

NCBI chr 2:182,909,115...183,038,457
Ensembl chr 2:182,909,115...183,038,858

G

N

neuroligin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004624903:1,437,663...1,465,955
Ensembl chrNW_004624903:1,438,428...1,463,172

G

G

neuroligin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr X:60,941,371...60,967,942
Ensembl chr X:60,941,654...60,967,936

G

P

neuroligin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr X:57,174,506...57,204,770
Ensembl chr X:57,176,103...57,201,461

G

S

neuroligin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004936762:435,729...458,261
Ensembl chrNW_004936762:435,729...458,423

G

D

neuroligin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr X:55,510,729...55,532,396
Ensembl chr X:55,513,626...55,531,371

G

B

neuroligin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr X:60,413,098...60,439,359
Ensembl chr X:70,469,764...70,496,526

G

C

neuroligin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004955475:10,712,170...10,735,857
Ensembl chrNW_004955475:10,712,170...10,735,857

G

R

neuroligin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876

G

M

neuroligin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr X:100,342,785...100,364,956
Ensembl chr X:100,342,774...100,369,569

G

H

neuroligin 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr X:71,144,841...71,175,307
Ensembl chr X:71,144,821...71,175,255

G

N

nuclear receptor subfamily 4 group A member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004624732:9,572,160...9,589,624
Ensembl chrNW_004624732:9,581,779...9,589,942

G

G

nuclear receptor subfamily 4 group A member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr10:41,715,092...41,724,411
Ensembl chr10:41,715,086...41,723,685

G

P

nuclear receptor subfamily 4 group A member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr15:63,487,051...63,506,249
Ensembl chr15:63,487,731...63,495,299

G

S

nuclear receptor subfamily 4 group A member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004936469:21,912,118...21,920,486
Ensembl chrNW_004936469:21,912,047...21,920,486

G

D

nuclear receptor subfamily 4 group A member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr36:2,546,237...2,554,559
Ensembl chr36:2,547,421...2,552,780

G

B

nuclear receptor subfamily 4 group A member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr2B:43,584,835...43,593,118
Ensembl chr2B:160,826,091...160,837,162

G

C

nuclear receptor subfamily 4 group A member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004955449:16,928,780...16,944,536
Ensembl chrNW_004955449:16,937,794...16,945,731

G

R

nuclear receptor subfamily 4, group A, member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 3:62,098,739...62,115,926
Ensembl chr 3:41,689,851...41,697,877

G

M

nuclear receptor subfamily 4, group A, member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 2:56,996,845...57,014,152
Ensembl chr 2:56,996,842...57,014,015

G

H

nuclear receptor subfamily 4 group A member 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348

G

N

nudix hydrolase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:27431290 PMID:28492532 PMID:30059600 PMID:33058507

NCBI chrNW_004624736:38,745,476...38,761,156
Ensembl chrNW_004624736:38,744,895...38,761,499

G

P

nudix hydrolase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:27431290 PMID:28492532 PMID:30059600 PMID:33058507

NCBI chr10:32,450,986...32,466,893
Ensembl chr10:32,451,064...32,466,839

G

S

nudix hydrolase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:27431290 PMID:28492532 PMID:30059600 PMID:33058507

NCBI chrNW_004936524:2,438,947...2,452,647
Ensembl chrNW_004936524:2,441,860...2,454,174

G

D

nudix hydrolase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:27431290 PMID:28492532 PMID:30059600 PMID:33058507

NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178

G

B

nudix hydrolase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:27431290 PMID:28492532 PMID:30059600 PMID:33058507

NCBI chr 9:34,165,452...34,179,722
Ensembl chr 9:34,974,240...34,988,453

G

C

nudix hydrolase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:27431290 PMID:28492532 PMID:30059600 PMID:33058507

NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539

G

R

nudix hydrolase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:27431290 PMID:28492532 PMID:30059600 PMID:33058507

NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104

G

M

nudix hydrolase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:27431290 PMID:28492532 PMID:30059600 PMID:33058507

NCBI chr 4:41,465,085...41,480,926
Ensembl chr 4:41,465,151...41,480,926

G

H

nudix hydrolase 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:27431290 PMID:28492532 PMID:30059600 PMID:33058507

NCBI chr 9:34,329,569...34,343,699
Ensembl chr 9:34,329,506...34,343,713

G

N

SR-related CTD associated factor 4

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32730804

NCBI chrNW_004624745:20,040,416...20,097,764
Ensembl chrNW_004624745:20,040,770...20,097,835

G

G

SR-related CTD associated factor 4

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32730804

NCBI chr 2:60,397,173...60,459,295
Ensembl chr 2:60,397,233...60,458,553

G

P

SR-related CTD associated factor 4

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32730804

NCBI chr13:195,335,178...195,396,246
Ensembl chr13:195,333,260...195,396,204

G

S

SR-related CTD associated factor 4

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32730804

NCBI chrNW_004936500:10,307,868...10,342,952
Ensembl chrNW_004936500:10,307,835...10,342,588

G

D

SR-related CTD associated factor 4

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32730804

NCBI chr31:26,546,801...26,583,040
Ensembl chr31:26,547,108...26,636,811

G

B

SR-related CTD associated factor 4

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32730804

NCBI chr21:18,039,507...18,101,700
Ensembl chr21:31,421,160...31,482,543

G

C

SR-related CTD associated factor 4

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32730804

NCBI chrNW_004955407:31,269,673...31,303,823
Ensembl chrNW_004955407:31,270,035...31,303,823

G

R

SR-related CTD-associated factor 4

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32730804

NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153

G

M

SR-related CTD-associated factor 4

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32730804

NCBI chr16:90,021,504...90,082,074
Ensembl chr16:90,022,568...90,081,391

G

H

SR-related CTD associated factor 4

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:25741868 PMID:32730804

NCBI chr21:31,671,000...31,732,118
Ensembl chr21:31,671,000...31,732,118

G

N

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

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

G

P

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699

G

M

sodium channel, voltage-gated, type I, alpha

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

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

G

H

SCN1A and SCN9A antisense RNA 1

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771

G

G

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus

PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 More...

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

G

P

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus

PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 More...

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

G

S

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus

PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 More...

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

G

D

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus

PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 More...

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

G

B

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus

PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 More...

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

G

C

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus

PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 More...

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

G

R

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus

PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 More...

NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214

G

M

sodium channel, voltage-gated, type II, alpha

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus

PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 More...

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

G

H

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: SCN2A-related disorder
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus
ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: SCN2A-related disorder

PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 More...

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

G

N

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004624732:222,657...330,959
Ensembl chrNW_004624732:251,860...328,917

G

G

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr10:50,563,560...50,679,179
Ensembl chr10:50,563,568...50,637,179

G

P

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160

G

S

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004936469:14,072,182...14,180,552
Ensembl chrNW_004936469:14,101,868...14,179,998

G

D

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr36:10,300,091...10,405,361
Ensembl chr36:10,302,191...10,377,923

G

B

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590

G

C

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004955449:8,896,454...9,009,304
Ensembl chrNW_004955449:8,896,454...9,009,304

G

R

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119

G

M

sodium channel, voltage-gated, type III, alpha

ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,288,607...65,397,971

G

H

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Complex neurodevelopmental disorder
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050

G

N

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More...

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: Complex neurodevelopmental disorder

PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More...

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

G

P

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More...

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

G

S

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More...

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

G

D

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More...

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

G

B

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More...

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

G

C

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More...

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

G

R

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More...

NCBI chr 7:131,982,152...132,156,075
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: Complex neurodevelopmental disorder

PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More...

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

G

H

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More...

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

G

N

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004624787:3,995,319...4,148,230
Ensembl chrNW_004624787:3,997,887...4,085,449

G

G

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr10:51,711,446...51,898,856
Ensembl chr10:51,714,931...51,829,621

G

P

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382

G

S

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004936469:13,063,971...13,153,030
Ensembl chrNW_004936469:13,064,043...13,152,974

G

D

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255

G

B

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013

G

C

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569

G

R

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516

G

M

sodium channel, voltage-gated, type IX, alpha

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306

G

H

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001

G

N

SH3 and multiple ankyrin repeat domains 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004624767:16,296,053...16,828,714
Ensembl chrNW_004624767:16,380,751...16,823,577

G

G

SH3 and multiple ankyrin repeat domains 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 1:3,453,268...4,104,515

G

P

SH3 and multiple ankyrin repeat domains 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 2:2,517,853...3,016,959
Ensembl chr 2:2,864,331...3,015,314

G

S

SH3 and multiple ankyrin repeat domains 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004936599:196,512...463,749
Ensembl chrNW_004936599:217,138...463,771

G

D

SH3 and multiple ankyrin repeat domains 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr18:47,477,625...47,915,557
Ensembl chr18:47,635,788...47,912,117

G

B

SH3 and multiple ankyrin repeat domains 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr11:65,570,677...66,268,139
Ensembl chr11:68,860,606...69,437,925

G

C

SH3 and multiple ankyrin repeat domains 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004955422:15,295,800...15,818,067
Ensembl chrNW_004955422:15,295,772...15,814,711

G

R

SH3 and multiple ankyrin repeat domains 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 1:199,146,210...199,590,962
Ensembl chr 1:199,169,429...199,589,394

G

M

SH3 and multiple ankyrin repeat domains 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 7:143,531,819...143,979,780
Ensembl chr 7:143,555,665...143,978,231

G

H

SH3 and multiple ankyrin repeat domains 2

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr11:70,467,854...71,253,228
Ensembl chr11:70,467,854...71,252,577

G

N

synaptic Ras GTPase activating protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More...

NCBI chrNW_004624754:23,367,585...23,396,643
Ensembl chrNW_004624754:23,366,912...23,396,575

G

G

synaptic Ras GTPase activating protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More...

NCBI chr17:38,612,777...38,646,382
Ensembl chr17:38,617,679...38,646,192

G

P

synaptic Ras GTPase activating protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More...

NCBI chr 7:29,723,745...29,752,351
Ensembl chr 7:29,723,588...29,753,933

G

S

synaptic Ras GTPase activating protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More...

NCBI chrNW_004936476:25,446,524...25,474,793
Ensembl chrNW_004936476:25,445,775...25,474,899

G

D

synaptic Ras GTPase activating protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More...

NCBI chr12:2,829,274...2,862,888
Ensembl chr12:2,829,306...2,851,432

G

B

synaptic Ras GTPase activating protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More...

NCBI chr 6:32,999,408...33,033,067
Ensembl chr 6:34,110,652...34,144,490

G

C

synaptic Ras GTPase activating protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More...

NCBI chrNW_004955437:1,950,559...1,981,004
Ensembl chrNW_004955437:1,950,602...1,979,251

G

R

synaptic Ras GTPase activating protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More...

NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672

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M

synaptic Ras GTPase activating protein 1 homolog (rat)

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More...

NCBI chr17:27,160,186...27,191,408
Ensembl chr17:27,160,227...27,191,408

G

H

synaptic Ras GTPase activating protein 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More...

NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689

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H

SYNGAP1 antisense RNA 1

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More...

NCBI chr 6:33,437,363...33,454,405
Ensembl chr 6:33,436,829...33,454,470

G

N

TATA-box binding protein associated factor, RNA polymerase I subunit C

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004624746:3,403,122...3,412,709
Ensembl chrNW_004624746:3,406,644...3,412,188

G

G

TATA-box binding protein associated factor, RNA polymerase I subunit C

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 5:69,587,592...69,596,312
Ensembl chr 5:69,587,769...69,593,814

G

P

TATA-box binding protein associated factor, RNA polymerase I subunit C

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 6:4,448,672...4,457,109
Ensembl chr 6:4,448,778...4,457,088

G

S

TATA-box binding protein associated factor, RNA polymerase I subunit C

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004936641:3,649,177...3,653,798

G

D

TATA-box binding protein associated factor, RNA polymerase I subunit C

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 5:68,175,196...68,184,267
Ensembl chr 5:68,175,014...68,184,277

G

B

TATA-box binding protein associated factor, RNA polymerase I subunit C

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr16:64,843,197...64,852,408
Ensembl chr16:84,184,928...84,194,147

G

C

TATA-box binding protein associated factor, RNA polymerase I subunit C

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004955564:121,988...132,347
Ensembl chrNW_004955564:87,452...134,650

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R

TATA-box binding protein associated factor, RNA polymerase 1 subunit C

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971

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M

TATA-box binding protein associated factor, RNA polymerase I, C

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 8:120,324,713...120,331,945
Ensembl chr 8:120,324,610...120,331,961

G

H

TATA-box binding protein associated factor, RNA polymerase I subunit C

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr16:84,177,855...84,187,057
Ensembl chr16:84,177,847...84,187,070

G

N

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004624787:3,685,700...3,745,018
Ensembl chrNW_004624787:3,686,088...3,744,895

G

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr10:51,365,156...51,449,207
Ensembl chr10:51,364,889...51,449,183

G

P

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491

G

S

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340

G

D

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674

G

B

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471

G

C

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562

G

R

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903

G

M

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961

G

H

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851

G

H

TTC21B antisense RNA 1

ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11

PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...

NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,749...165,949,891

G

R

zinc finger protein 292

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 5:49,384,177...49,468,177
Ensembl chr 5:49,387,893...49,468,265

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M

zinc finger protein 292

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 4:34,803,110...34,882,982
Ensembl chr 4:34,803,113...34,882,960

G

N

zinc finger protein 292

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004624799:7,092,429...7,183,892
Ensembl chrNW_004624799:7,086,078...7,180,234

G

G

zinc finger protein 292

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr13:11,648,871...11,760,029
Ensembl chr13:11,651,537...11,762,656

G

P

zinc finger protein 292

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 1:55,615,250...55,713,103
Ensembl chr 1:55,616,957...55,710,827

G

S

zinc finger protein 292

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004936510:4,555,806...4,633,146
Ensembl chrNW_004936510:4,554,181...4,633,169

G

D

zinc finger protein 292

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr12:46,685,570...46,781,693
Ensembl chr12:46,685,137...46,780,742

G

B

zinc finger protein 292

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 6:85,029,362...85,140,760
Ensembl chr 6:88,307,005...88,412,756

G

C

zinc finger protein 292

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chrNW_004955411:14,182,059...14,263,109
Ensembl chrNW_004955411:14,182,059...14,263,109

G

H

zinc finger protein 292

ClinVar Annotator: match by term: Complex neurodevelopmental disorder

NCBI chr 6:87,155,565...87,265,943
Ensembl chr 6:87,151,803...87,265,943

Term paths to the root

Path 1
Term	Annotations
disease	288179
syndrome	133013
electroclinical syndrome	15195
developmental and epileptic encephalopathy	11349
developmental and epileptic encephalopathy 11	313
Path 2
Term	Annotations
disease	288179
disease of anatomical entity	271815
nervous system disease	190640
central nervous system disease	157774
brain disease	148547
epilepsy	29636
electroclinical syndrome	15195
neonatal period electroclinical syndrome	11071
early infantile epileptic encephalopathy	10861
developmental and epileptic encephalopathy 11	313

paths to the root