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visual epilepsy - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:visual epilepsy
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Accession:DOID:11832 term browser browse the term
Definition:Visual seizures mainly present as epileptic auras, but can be simple hallucinations related with an occipital origin, or complex hallucinations associated with more anterior regions of the brain. The appearance of lateralised visual phenomena suggests an origin located in the contralateral hemisphere.
Synonyms:exact_synonym: COVE;   Childhood occipital visual epilepsy;   Gastaut syndrome;   Sensory Seizure;   Sensory Seizures;   Somatosensory Seizure;   idiopathic childhood occipital epilepsy, Gastaut type;   late onset benign occipital epilepsy;   somatosensory seizures;   visual seizure;   visual seizures
 xref: MONDO:0001386;   NCI:C3980
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
visual epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chrNW_004624774:15,048,825...15,099,443
Ensembl chrNW_004624774:15,048,627...15,101,856 		JBrowse link
G G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chr23:29,539,897...29,589,004 JBrowse link
G P ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,969...129,709,705 		JBrowse link
G S Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chrNW_004936575:6,467,224...6,506,052
Ensembl chrNW_004936575:6,467,340...6,506,006 		JBrowse link
G D ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516 		JBrowse link
G B ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chr 5:121,946,527...122,000,273
Ensembl chr 5:127,718,978...127,771,047 		JBrowse link
G C Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129 		JBrowse link
G R Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chr18:52,208,035...52,240,293
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G M Aldh7a1 aldehyde dehydrogenase family 7, member A1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chr18:56,657,794...56,706,112
Ensembl chr18:56,642,759...56,706,023 		JBrowse link
G M Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:hippocampus, vasculature (rat) RGD PMID:20940264 RGD:4889880 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344 		JBrowse link
G H CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:hippocampus, vasculature (rat) RGD PMID:20940264 RGD:4889880 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G M Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:20940264 RGD:4889880 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G H CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:20940264 RGD:4889880 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G N Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:10563623 PMID:10643924 PMID:11904236 PMID:12887446 PMID:14623738 More... NCBI chrNW_004624741:29,024,668...29,039,684
Ensembl chrNW_004624741:29,026,908...29,044,464 		JBrowse link
G G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:10563623 PMID:10643924 PMID:11904236 PMID:12887446 PMID:14623738 More... NCBI chr 2:851,790...862,685 JBrowse link
G P CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:10563623 PMID:10643924 PMID:11904236 PMID:12887446 PMID:14623738 More... NCBI chr17:62,424,672...62,436,646
Ensembl chr17:62,423,878...62,435,728 		JBrowse link
G S Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:10563623 PMID:10643924 PMID:11904236 PMID:12887446 PMID:14623738 More... NCBI chrNW_004936514:10,680,893...10,695,859
Ensembl chrNW_004936514:10,680,859...10,695,865 		JBrowse link
G D CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:10563623 PMID:10643924 PMID:11904236 PMID:12887446 PMID:14623738 More... NCBI chr24:47,024,948...47,036,507
Ensembl chr24:47,025,187...47,042,266 		JBrowse link
G B CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:10563623 PMID:10643924 PMID:11904236 PMID:12887446 PMID:14623738 More... NCBI chr20:59,730,759...59,748,678
Ensembl chr20:61,270,631...61,283,005 		JBrowse link
G C Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:10563623 PMID:10643924 PMID:11904236 PMID:12887446 PMID:14623738 More... NCBI chrNW_004955528:825,314...840,994
Ensembl chrNW_004955528:825,308...841,270 		JBrowse link
G R Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:10563623 PMID:10643924 PMID:11904236 PMID:12887446 PMID:14623738 More... NCBI chr 3:188,506,802...188,535,558
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G M Chrna4 cholinergic receptor, nicotinic, alpha polypeptide 4 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:10563623 PMID:10643924 PMID:11904236 PMID:12887446 PMID:14623738 More... NCBI chr 2:180,664,104...180,685,339
Ensembl chr 2:180,660,173...180,685,339 		JBrowse link
G N Cstb cystatin B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624745:30,152,988...30,155,704
Ensembl chrNW_004624745:30,153,023...30,155,712 		JBrowse link
G G CSTB cystatin B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:87,551,341...87,555,145 JBrowse link
G P CSTB cystatin B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646 		JBrowse link
G S Cstb cystatin B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936500:502,444...503,307
Ensembl chrNW_004936500:502,237...503,578 		JBrowse link
G D CSTB cystatin B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532
G B CSTB cystatin B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:30,030,359...30,032,899 JBrowse link
G C Cstb cystatin B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150 		JBrowse link
G R Cstb cystatin B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:10,245,157...10,247,199
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G M Cstb cystatin B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456 		JBrowse link
G N Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 More... NCBI chrNW_004624747:8,169,035...8,310,945
Ensembl chrNW_004624747:8,168,321...8,310,457 		JBrowse link
G G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 More... NCBI chr19:14,634,836...14,798,050
Ensembl chr19:14,635,947...14,787,591 		JBrowse link
G P DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 More... NCBI chr14:48,421,788...48,523,530
Ensembl chr14:48,421,880...48,523,593 		JBrowse link
G S Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 More... NCBI chrNW_004936755:871,935...1,024,538
Ensembl chrNW_004936755:872,815...1,024,057 		JBrowse link
G D DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 More... NCBI chr26:24,629,369...24,754,728
Ensembl chr26:24,630,295...24,754,256 		JBrowse link
G B DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 More... NCBI chr22:12,774,147...12,929,261
Ensembl chr22:30,630,110...30,781,578 		JBrowse link
G C Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 More... NCBI chrNW_004955455:5,881,631...6,005,514
Ensembl chrNW_004955455:5,881,691...6,003,035 		JBrowse link
G R Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 More... NCBI chr14:81,956,777...82,087,392
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G M Depdc5 DEP domain containing 5 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 More... NCBI chr 5:33,020,996...33,151,581
Ensembl chr 5:33,021,045...33,151,580 		JBrowse link
G N Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624741:29,515,338...29,562,619
Ensembl chrNW_004624741:29,515,298...29,562,617 		JBrowse link
G G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:303,195...310,618
Ensembl chr 2:307,988...310,475 		JBrowse link
G P DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:62,754,630...62,780,470
Ensembl chr17:62,754,802...62,780,468 		JBrowse link
G S Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936514:11,131,666...11,139,404
Ensembl chrNW_004936514:11,131,074...11,139,446 		JBrowse link
G D DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532
G B DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 Ensembl chr20:61,848,236...61,856,265 JBrowse link
G C Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955528:317,891...366,299
Ensembl chrNW_004955528:317,891...366,293 		JBrowse link
G R Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:188,999,508...189,033,455
Ensembl chr 3:168,621,969...168,655,935 		JBrowse link
G M Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:181,162,141...181,194,679
Ensembl chr 2:181,162,278...181,196,926 		JBrowse link
G N Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Focal seizures ClinVar NCBI chrNW_004624747:23,413,045...23,422,227
Ensembl chrNW_004624747:23,414,077...23,421,074 		JBrowse link
G G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Focal seizures ClinVar NCBI chr11:118,949,674...118,961,913
Ensembl chr11:118,950,409...118,961,687 		JBrowse link
G P EIF2B1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Focal seizures ClinVar NCBI chr14:29,355,497...29,367,918
Ensembl chr14:29,332,233...29,367,918 		JBrowse link
G S Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Focal seizures ClinVar NCBI chrNW_004936558:1,196,111...1,205,321
Ensembl chrNW_004936558:1,196,068...1,205,867 		JBrowse link
G D EIF2B1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Focal seizures ClinVar NCBI chr26:6,011,280...6,022,562
Ensembl chr26:6,011,301...6,022,518 		JBrowse link
G B EIF2B1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Focal seizures ClinVar NCBI chr12:121,206,380...121,218,749
Ensembl chr12:125,433,227...125,446,665 		JBrowse link
G C Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Focal seizures ClinVar NCBI chrNW_004955482:5,380,121...5,388,588
Ensembl chrNW_004955482:5,380,121...5,388,588 		JBrowse link
G R Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Focal seizures ClinVar NCBI chr12:37,686,149...37,694,830
Ensembl chr12:32,025,557...32,046,601 		JBrowse link
G N Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18514161 PMID:19935738 PMID:20550555 PMID:25726841 PMID:25741868 More... NCBI chrNW_004624896:962,253...1,173,842
Ensembl chrNW_004624896:966,487...1,173,625 		JBrowse link
G G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18514161 PMID:19935738 PMID:20550555 PMID:25726841 PMID:25741868 More... NCBI chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		JBrowse link
G P GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18514161 PMID:19935738 PMID:20550555 PMID:25726841 PMID:25741868 More... NCBI chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,540...140,905,623 		JBrowse link
G S Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18514161 PMID:19935738 PMID:20550555 PMID:25726841 PMID:25741868 More... NCBI chrNW_004936471:39,791,633...40,193,049
Ensembl chrNW_004936471:39,791,613...40,187,923 		JBrowse link
G B GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18514161 PMID:19935738 PMID:20550555 PMID:25726841 PMID:25741868 More... NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357 		JBrowse link
G R Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18514161 PMID:19935738 PMID:20550555 PMID:25726841 PMID:25741868 More... NCBI chr 1:117,602,772...117,838,230
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G N Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:19464834 More... NCBI chrNW_004624735:23,441,042...23,752,197
Ensembl chrNW_004624735:23,441,042...23,751,247 		JBrowse link
G G KCNQ3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:19464834 More... NCBI chr 8:126,566,288...126,921,354
Ensembl chr 8:126,566,545...126,622,712 		JBrowse link
G P KCNQ3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:19464834 More... NCBI chr 4:8,669,969...8,978,656
Ensembl chr 4:8,669,121...8,970,342 		JBrowse link
G S Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:19464834 More... NCBI chrNW_004936470:16,712,508...17,009,648
Ensembl chrNW_004936470:16,712,703...17,009,397 		JBrowse link
G D KCNQ3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:19464834 More... NCBI chr13:28,765,472...29,062,371
Ensembl chr13:28,773,738...29,062,370 		JBrowse link
G B KCNQ3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:19464834 More... NCBI chr 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237 		JBrowse link
G C Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:19464834 More... NCBI chrNW_004955461:6,793,877...7,119,859
Ensembl chrNW_004955461:6,797,018...7,119,569 		JBrowse link
G R Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:19464834 More... NCBI chr 7:99,614,089...99,914,736
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
G M Kcnq3 potassium voltage-gated channel, subfamily Q, member 3 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:19464834 More... NCBI chr15:65,858,223...66,158,485
Ensembl chr15:65,858,236...66,158,491 		JBrowse link
G N Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25339316 PMID:25741868 More... NCBI chrNW_004624760:1,167,489...1,209,155
Ensembl chrNW_004624760:1,167,641...1,209,802 		JBrowse link
G G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25339316 PMID:25741868 More... NCBI chr12:2,410,520...2,502,176
Ensembl chr12:2,408,751...2,486,858 		JBrowse link
G P KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25339316 PMID:25741868 More...
G S Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25339316 PMID:25741868 More... NCBI chrNW_004936669:1,834,879...1,867,572
Ensembl chrNW_004936669:1,834,582...1,871,791 		JBrowse link
G D KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25339316 PMID:25741868 More... NCBI chr 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633 		JBrowse link
G B KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25339316 PMID:25741868 More... NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482 		JBrowse link
G C Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25339316 PMID:25741868 More... NCBI chrNW_004955513:4,712,772...4,765,657
Ensembl chrNW_004955513:4,712,516...4,765,657 		JBrowse link
G R Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25339316 PMID:25741868 More... NCBI chr 3:29,081,071...29,136,902
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G N Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423 		JBrowse link
G P KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G S Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chrNW_004936512:6,819,240...6,860,852
Ensembl chrNW_004936512:6,822,057...6,854,451 		JBrowse link
G D KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490 		JBrowse link
G B KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661 		JBrowse link
G C Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067 		JBrowse link
G R Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G M Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
G N Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 More... NCBI chrNW_004624777:8,831,246...8,877,881
Ensembl chrNW_004624777:8,827,851...8,877,873 		JBrowse link
G G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 More... NCBI chr 7:75,043,740...75,096,894
Ensembl chr 7:75,046,545...75,072,258 		JBrowse link
G P MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 More... NCBI chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,081...96,972,383 		JBrowse link
G S Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 More... NCBI chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830 		JBrowse link
G D MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 More... NCBI chr19:12,905,336...13,030,901
Ensembl chr19:12,982,394...13,020,083 		JBrowse link
G B MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 More... NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590 		JBrowse link
G C Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 More... NCBI chrNW_004955428:13,519,285...13,548,007
Ensembl chrNW_004955428:13,519,277...13,544,695 		JBrowse link
G R Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G M Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 More... NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		JBrowse link
G N Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:15210538 More... NCBI chrNW_004624752:257,885...268,971
Ensembl chrNW_004624752:258,039...268,737 		JBrowse link
G G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:15210538 More... NCBI chr19:32,978,771...32,995,055
Ensembl chr19:32,978,562...32,997,160 		JBrowse link
G P NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:15210538 More... NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		JBrowse link
G S Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:15210538 More... NCBI chrNW_004936629:320,885...327,290
Ensembl chrNW_004936629:321,011...327,607 		JBrowse link
G D NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:15210538 More... NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824 		JBrowse link
G B NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:15210538 More... NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027 		JBrowse link
G C Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:15210538 More... NCBI chrNW_004955413:33,492,348...33,503,804 JBrowse link
G R Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:15210538 More... NCBI chr 7:122,302,550...122,319,570
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G M Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:15210538 More... NCBI chr15:89,239,920...89,257,030
Ensembl chr15:89,239,922...89,257,029 		JBrowse link
G R Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G M Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 4:43,016,964...43,026,369
Ensembl chr 4:43,017,635...43,025,819 		JBrowse link
G N Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:24747189 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624741:9,030,817...9,859,597
Ensembl chrNW_004624741:9,031,204...9,856,556 		JBrowse link
G G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:24747189 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:29,242,601...29,994,238
Ensembl chr 2:29,242,425...29,496,793 		JBrowse link
G P PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:24747189 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,313 		JBrowse link
G S Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:24747189 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936485:10,548,966...11,254,139
Ensembl chrNW_004936485:10,548,966...11,253,761 		JBrowse link
G D PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:24747189 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539 		JBrowse link
G B PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:24747189 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019 		JBrowse link
G C Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:24747189 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955415:18,210,608...18,915,099
Ensembl chrNW_004955415:18,210,662...18,915,158 		JBrowse link
G R Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:24747189 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:142,512,765...143,224,042
Ensembl chr 3:122,060,031...122,772,869 		JBrowse link
G M Plcb1 phospholipase C, beta 1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:24747189 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:134,628,084...135,317,178
Ensembl chr 2:134,627,987...135,317,178 		JBrowse link
G N Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chrNW_004624768:16,493,123...16,509,747
Ensembl chrNW_004624768:16,491,555...16,509,900 		JBrowse link
G G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G P POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G S Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258 		JBrowse link
G D POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
G B POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G C Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G R Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G M Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G N Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chrNW_004624794:8,439,609...8,449,731
Ensembl chrNW_004624794:8,439,600...8,450,179 		JBrowse link
G G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325 		JBrowse link
G P SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481 		JBrowse link
G S Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chrNW_004936570:1,187,916...1,195,423
Ensembl chrNW_004936570:1,186,711...1,195,388 		JBrowse link
G D SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727 		JBrowse link
G B SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052 		JBrowse link
G C Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502 		JBrowse link
G R Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
G M Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chr 7:30,815,949...30,826,436
Ensembl chr 7:30,815,949...30,826,428 		JBrowse link
G N Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26993267 PMID:28492532 PMID:29432985 PMID:31625145 More... NCBI chrNW_004624816:498,737...631,850
Ensembl chrNW_004624816:499,179...631,936 		JBrowse link
G G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26993267 PMID:28492532 PMID:29432985 PMID:31625145 More... NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399 		JBrowse link
G P SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26993267 PMID:28492532 PMID:29432985 PMID:31625145 More... NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543 		JBrowse link
G S Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26993267 PMID:28492532 PMID:29432985 PMID:31625145 More... NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688 		JBrowse link
G D SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26993267 PMID:28492532 PMID:29432985 PMID:31625145 More... NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482 		JBrowse link
G B SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26993267 PMID:28492532 PMID:29432985 PMID:31625145 More... NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357 		JBrowse link
G C Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26993267 PMID:28492532 PMID:29432985 PMID:31625145 More... NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971 		JBrowse link
G R Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26993267 PMID:28492532 PMID:29432985 PMID:31625145 More... NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G M Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26993267 PMID:28492532 PMID:29432985 PMID:31625145 More... NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		JBrowse link
G N Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28491533 More... NCBI chrNW_004624892:2,703,898...2,754,130
Ensembl chrNW_004624892:2,703,936...2,756,565 		JBrowse link
G G SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28491533 More... NCBI chr20:89,360,859...89,422,554 JBrowse link
G P SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28491533 More... NCBI chr 6:167,811,589...167,861,321
Ensembl chr 6:167,811,598...167,861,583 		JBrowse link
G S Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28491533 More... NCBI chrNW_004936474:24,788,175...24,837,471
Ensembl chrNW_004936474:24,788,195...24,837,395 		JBrowse link
G D SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28491533 More... NCBI chr15:16,729,068...16,780,549
Ensembl chr15:16,728,758...16,780,325 		JBrowse link
G B SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28491533 More... NCBI chr 1:42,691,292...42,754,046
Ensembl chr 1:44,068,998...44,129,456 		JBrowse link
G C Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28491533 More... NCBI chrNW_004955537:2,968,839...3,017,863
Ensembl chrNW_004955537:2,968,839...3,017,863 		JBrowse link
G R Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28491533 More... NCBI chr 5:137,182,648...137,229,349
Ensembl chr 5:131,897,275...131,943,904 		JBrowse link
G M Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28491533 More... NCBI chr 4:118,219,937...118,266,483
Ensembl chr 4:118,219,940...118,266,470 		JBrowse link
autosomal dominant intellectual developmental disorder 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004624752:25,139,100...25,144,958
Ensembl chrNW_004624752:25,140,932...25,145,333 		JBrowse link
G G APOLD1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr11:12,620,649...12,692,395 JBrowse link
G P APOLD1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 5:59,667,088...59,672,021
Ensembl chr 5:59,667,586...59,673,401 		JBrowse link
G S Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004936587:4,512,440...4,517,183
Ensembl chrNW_004936587:4,512,368...4,517,309 		JBrowse link
G D APOLD1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr27:33,542,646...33,548,897
Ensembl chr27:33,545,702...33,604,476 		JBrowse link
G B APOLD1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,750,822...12,816,439
Ensembl chr12:13,129,855...13,194,932 		JBrowse link
G C Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004955413:9,682,032...9,685,965
Ensembl chrNW_004955413:9,681,955...9,687,910 		JBrowse link
G R Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,768,437...167,825,706
Ensembl chr 4:167,818,271...167,825,706 		JBrowse link
G M Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 6:134,958,964...134,963,799
Ensembl chr 6:134,958,681...134,963,799 		JBrowse link
G H APOLD1 apolipoprotein L domain containing 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,725,917...12,791,466
Ensembl chr12:12,725,917...12,829,975 		JBrowse link
G N Arhgdib Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,074,249...23,090,866
Ensembl chrNW_004624752:23,073,680...23,091,313 		JBrowse link
G G ARHGDIB Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,839,349...14,859,237
Ensembl chr11:14,839,242...14,859,493 		JBrowse link
G P ARHGDIB Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,576,754...57,598,395
Ensembl chr 5:57,576,776...57,598,869 		JBrowse link
G S Arhgdib Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,471,344...2,549,765
Ensembl chrNW_004936587:2,470,867...2,549,861 		JBrowse link
G D ARHGDIB Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,662,817...31,681,951
Ensembl chr27:31,662,925...31,681,642 		JBrowse link
G B ARHGDIB Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,944,746...14,964,357
Ensembl chr12:15,341,491...15,361,160 		JBrowse link
G C Arhgdib Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,670,889...11,688,357
Ensembl chrNW_004955413:11,670,687...11,688,611 		JBrowse link
G R Arhgdib Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:171,554,139...171,573,057
Ensembl chr 4:169,822,952...169,841,658 		JBrowse link
G M Arhgdib Rho, GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,900,653...136,918,895
Ensembl chr 6:136,900,653...136,918,897 		JBrowse link
G H ARHGDIB Rho GDP dissociation inhibitor beta IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,942,015...14,961,601
Ensembl chr12:14,942,031...14,961,728 		JBrowse link
G N Art4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,177,850...23,192,586
Ensembl chrNW_004624752:23,177,830...23,192,642 		JBrowse link
G G ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,727,130...14,751,196
Ensembl chr11:14,725,977...14,741,061 		JBrowse link
G P ART4 ADP-ribosyltransferase 4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,708,463...57,727,678
Ensembl chr 5:57,708,852...57,735,586 		JBrowse link
G S Art4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,634,459...2,647,265
Ensembl chrNW_004936587:2,634,435...2,647,159 		JBrowse link
G D ART4 ADP-ribosyltransferase 4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,776,020...31,786,454
Ensembl chr27:31,776,130...31,785,945 		JBrowse link
G B ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,829,260...14,849,463
Ensembl chr12:15,232,155...15,246,355 		JBrowse link
G C Art4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,569,779...11,586,548
Ensembl chrNW_004955413:11,568,785...11,586,631 		JBrowse link
G R Art4 ADP-ribosyltransferase 4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,740,331...169,751,571
Ensembl chr 4:169,740,331...169,750,665 		JBrowse link
G M Art4 ADP-ribosyltransferase 4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,825,449...136,834,598
Ensembl chr 6:136,825,449...136,834,731 		JBrowse link
G H ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,825,569...14,843,526
Ensembl chr12:14,825,569...14,843,526 		JBrowse link
G N Atf7ip activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,469,237...23,605,803
Ensembl chrNW_004624752:23,470,201...23,573,648 		JBrowse link
G G ATF7IP activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,264,795...14,397,062
Ensembl chr11:14,264,706...14,392,206 		JBrowse link
G P ATF7IP activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:58,022,734...58,149,980
Ensembl chr 5:58,022,741...58,133,399 		JBrowse link
G S Atf7ip activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,922,855...3,026,773
Ensembl chrNW_004936587:2,919,666...3,026,837 		JBrowse link
G D ATF7IP activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:32,082,615...32,194,954
Ensembl chr27:32,086,675...32,177,364 		JBrowse link
G B ATF7IP activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,373,084...14,504,286
Ensembl chr12:14,789,794...14,900,411 		JBrowse link
G C Atf7ip activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,117,369...11,261,787
Ensembl chrNW_004955413:11,117,223...11,261,606 		JBrowse link
G R Atf7ip activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:171,117,122...171,202,871
Ensembl chr 4:169,385,872...169,471,650 		JBrowse link
G M Atf7ip activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,495,787...136,587,848
Ensembl chr 6:136,483,165...136,587,860 		JBrowse link
G H ATF7IP activating transcription factor 7 interacting protein IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,365,682...14,502,930
Ensembl chr12:14,365,676...14,502,931 		JBrowse link
G M BC049715 cDNA sequence BC049715 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,805,158...136,818,918
Ensembl chr 6:136,804,624...136,817,660 		JBrowse link
G N Bcl2l14 BCL2 like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:25,762,860...25,799,990
Ensembl chrNW_004624752:25,763,749...25,800,040 		JBrowse link
G G BCL2L14 BCL2 like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:11,961,329...12,001,903
Ensembl chr11:11,973,010...12,002,128 		JBrowse link
G P BCL2L14 BCL2 like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:60,334,813...60,357,935
Ensembl chr 5:60,332,451...60,357,897 		JBrowse link
G S Bcl2l14 BCL2 like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:5,160,085...5,174,855
Ensembl chrNW_004936587:5,160,085...5,174,855 		JBrowse link
G D BCL2L14 BCL2 like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:34,179,481...34,216,374
Ensembl chr27:34,180,064...34,200,095 		JBrowse link
G B BCL2L14 BCL2 like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,072,021...12,122,015
Ensembl chr12:12,444,839...12,492,777 		JBrowse link
G C Bcl2l14 BCL2 like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:9,040,272...9,069,266
Ensembl chrNW_004955413:9,055,126...9,069,007 		JBrowse link
G R Bcl2l14 Bcl2-like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:168,948,919...168,989,450
Ensembl chr 4:167,219,871...167,258,086 		JBrowse link
G M Bcl2l14 BCL2 like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,373,292...134,415,687
Ensembl chr 6:134,373,281...134,415,699 		JBrowse link
G H BCL2L14 BCL2 like 14 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,049,861...12,099,695
Ensembl chr12:12,049,844...12,211,084 		JBrowse link
G N Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:25,418,206...25,504,658
Ensembl chrNW_004624752:25,382,796...25,504,989 		JBrowse link
G G BORCS5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:12,259,080...12,363,576
Ensembl chr11:12,259,495...12,364,740 		JBrowse link
G P BORCS5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:59,969,806...60,072,976
Ensembl chr 5:59,970,260...60,072,942 		JBrowse link
G S Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:4,806,537...4,906,301
Ensembl chrNW_004936587:4,806,113...4,906,411 		JBrowse link
G D BORCS5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:33,839,345...33,949,056
Ensembl chr27:33,837,318...33,934,896 		JBrowse link
G B BORCS5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,380,071...12,488,735
Ensembl chr12:12,749,104...12,857,043 		JBrowse link
G C Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:9,309,766...9,399,378
Ensembl chrNW_004955413:9,309,861...9,399,378 		JBrowse link
G R Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,190,025...169,272,335
Ensembl chr 4:167,473,177...167,540,993 		JBrowse link
G M Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,616,475...134,688,147
Ensembl chr 6:134,616,473...134,688,150 		JBrowse link
G H BORCS5 BLOC-1 related complex subunit 5 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,357,078...12,471,233
Ensembl chr12:12,357,078...12,471,233 		JBrowse link
G B C10H12orf60 chromosome 10 C12orf60 homolog ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,828,266...14,830,706 JBrowse link
G H C12orf60 chromosome 12 open reading frame 60 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,803,670...14,824,415
Ensembl chr12:14,803,666...14,906,586 		JBrowse link
G D C27H12orf60 chromosome 27 C12orf60 homolog ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,774,850...31,805,601
Ensembl chr27:31,792,007...31,792,875 		JBrowse link
G R C4h12orf60 similar to human chromosome 12 open reading frame 60 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237 		JBrowse link
G P C5H12orf60 chromosome 5 C12orf60 homolog ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,734,455...57,735,612
Ensembl chr 5:57,734,665...57,735,396 		JBrowse link
G N Cdkn1b cyclin dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114 		JBrowse link
G G CDKN1B cyclin dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531 		JBrowse link
G P CDKN1B cyclin dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831 		JBrowse link
G S Cdkn1b cyclin dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461 		JBrowse link
G D CDKN1B cyclin dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906 		JBrowse link
G B CDKN1B cyclin dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541 		JBrowse link
G C Cdkn1b cyclin dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542 		JBrowse link
G R Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G M Cdkn1b cyclin dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476 		JBrowse link
G H CDKN1B cyclin dependent kinase inhibitor 1B IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G N Crebl2 cAMP responsive element binding protein like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:25,280,957...25,301,562 JBrowse link
G G CREBL2 cAMP responsive element binding protein like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:12,510,529...12,541,026
Ensembl chr11:12,510,540...12,537,901 		JBrowse link
G P CREBL2 cAMP responsive element binding protein like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:59,804,348...59,831,197
Ensembl chr 5:59,805,600...59,831,183 		JBrowse link
G S Crebl2 cAMP responsive element binding protein like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:4,645,507...4,663,920
Ensembl chrNW_004936587:4,643,123...4,663,964 		JBrowse link
G D CREBL2 cAMP responsive element binding protein like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:33,684,376...33,711,625
Ensembl chr27:33,687,491...33,711,512 		JBrowse link
G B CREBL2 cAMP responsive element binding protein like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,632,763...12,665,646 JBrowse link
G C Crebl2 cAMP responsive element binding protein like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:9,513,625...9,535,817
Ensembl chrNW_004955413:9,513,625...9,535,817 		JBrowse link
G R Crebl2 cAMP responsive element binding protein-like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,404,630...169,430,618
Ensembl chr 4:167,673,315...167,699,292 		JBrowse link
G M Crebl2 cAMP responsive element binding protein-like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,807,090...134,835,894
Ensembl chr 6:134,807,117...134,835,894 		JBrowse link
G H CREBL2 cAMP responsive element binding protein like 2 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,611,876...12,645,108
Ensembl chr12:12,611,827...12,645,108 		JBrowse link
G N CUNH12orf60 chromosome unknown C12orf60 homolog ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,198,069...23,198,797 JBrowse link
G G CUNH12orf60 chromosome unknown C12orf60 homolog ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,704,531...14,724,074
Ensembl chr11:14,723,155...14,723,889 		JBrowse link
G S CUNH12orf60 chromosome unknown C12orf60 homolog ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,650,860...2,651,996 JBrowse link
G N Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004624752:25,114,639...25,131,601
Ensembl chrNW_004624752:25,117,016...25,131,911 		JBrowse link
G G DDX47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr11:12,716,375...12,734,494
Ensembl chr11:12,716,290...12,734,061 		JBrowse link
G P DDX47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 5:59,633,422...59,646,980
Ensembl chr 5:59,633,426...59,650,553 		JBrowse link
G S Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004936587:4,482,883...4,496,429
Ensembl chrNW_004936587:4,479,284...4,496,725 		JBrowse link
G D DDX47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr27:33,509,959...33,525,496
Ensembl chr27:33,509,958...33,525,516 		JBrowse link
G B DDX47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,838,201...12,854,874
Ensembl chr12:13,216,152...13,232,846 		JBrowse link
G C Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004955413:9,703,777...9,718,802
Ensembl chrNW_004955413:9,703,777...9,718,796 		JBrowse link
G R Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,845,652...167,858,115
Ensembl chr 4:167,845,640...167,859,115 		JBrowse link
G M Ddx47 DEAD box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 6:134,988,575...135,000,739
Ensembl chr 6:134,988,575...135,000,739 		JBrowse link
G H DDX47 DEAD-box helicase 47 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,813,346...12,829,981
Ensembl chr12:12,813,316...12,829,981 		JBrowse link
G N Dusp16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:25,340,997...25,413,561
Ensembl chrNW_004624752:25,340,448...25,413,561 		JBrowse link
G G DUSP16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:12,369,713...12,462,134
Ensembl chr11:12,372,449...12,419,136 		JBrowse link
G P DUSP16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:59,869,902...59,961,839
Ensembl chr 5:59,915,197...59,961,829 		JBrowse link
G S Dusp16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:4,711,085...4,801,030
Ensembl chrNW_004936587:4,711,388...4,801,382 		JBrowse link
G D DUSP16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:33,728,209...33,831,258
Ensembl chr27:33,789,557...33,832,075 		JBrowse link
G B DUSP16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,497,185...12,585,591
Ensembl chr12:12,865,400...12,912,502 		JBrowse link
G C Dusp16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:9,404,259...9,481,061
Ensembl chrNW_004955413:9,385,100...9,474,711 		JBrowse link
G R Dusp16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,278,118...169,361,508
Ensembl chr 4:167,548,155...167,629,980 		JBrowse link
G M Dusp16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,692,431...134,769,687
Ensembl chr 6:134,692,431...134,769,588 		JBrowse link
G H DUSP16 dual specificity phosphatase 16 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,473,282...12,562,863
Ensembl chr12:12,473,282...12,562,863 		JBrowse link
G N Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004624752:24,778,610...24,797,395
Ensembl chrNW_004624752:24,780,689...24,797,544 		JBrowse link
G G EMP1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr11:13,099,213...13,119,492
Ensembl chr11:13,114,132...13,119,541 		JBrowse link
G P EMP1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 5:59,245,317...59,267,466
Ensembl chr 5:59,244,691...59,268,025 		JBrowse link
G S Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004936587:4,104,414...4,108,446
Ensembl chrNW_004936587:4,104,679...4,108,448 		JBrowse link
G D EMP1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr27:33,177,874...33,199,048
Ensembl chr27:33,179,576...33,206,634 		JBrowse link
G B EMP1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 Ensembl chr12:13,610,060...13,630,819 JBrowse link
G C Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004955413:10,062,621...10,081,551
Ensembl chrNW_004955413:10,062,635...10,081,733 		JBrowse link
G R Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:169,931,537...169,964,366
Ensembl chr 4:168,212,861...168,232,904 		JBrowse link
G M Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 6:135,339,548...135,360,171
Ensembl chr 6:135,339,543...135,360,171 		JBrowse link
G H EMP1 epithelial membrane protein 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:13,196,726...13,219,941
Ensembl chr12:13,196,723...13,219,941 		JBrowse link
G N Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:22,250,988...22,424,957
Ensembl chrNW_004624752:22,295,413...22,426,717 		JBrowse link
G G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133 		JBrowse link
G P EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113 		JBrowse link
G S Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:1,785,721...1,951,474
Ensembl chrNW_004936587:1,785,303...1,951,332 		JBrowse link
G D EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770 		JBrowse link
G B EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:15,617,536...15,788,537
Ensembl chr12:16,013,276...16,076,117 		JBrowse link
G C Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:12,267,701...12,386,088
Ensembl chrNW_004955413:12,266,371...12,386,088 		JBrowse link
G R Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:172,119,497...172,291,670
Ensembl chr 4:170,388,378...170,486,873 		JBrowse link
G M Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874 		JBrowse link
G H EPS8 EGFR pathway substrate 8, signaling adaptor IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329 		JBrowse link
G N Erp27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,091,620...23,108,890
Ensembl chrNW_004624752:23,091,620...23,107,923 		JBrowse link
G G ERP27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,810,071...14,836,427
Ensembl chr11:14,811,473...14,826,652 		JBrowse link
G P ERP27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,599,497...57,626,638
Ensembl chr 5:57,599,802...57,626,628 		JBrowse link
G S Erp27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,550,649...2,567,213
Ensembl chrNW_004936587:2,550,604...2,567,150 		JBrowse link
G D ERP27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,682,586...31,702,959
Ensembl chr27:31,682,896...31,702,773 		JBrowse link
G B ERP27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,916,781...14,940,991
Ensembl chr12:15,313,546...15,337,989 		JBrowse link
G C Erp27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,650,920...11,670,127
Ensembl chrNW_004955413:11,650,991...11,669,968 		JBrowse link
G R Erp27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,804,656...169,821,660
Ensembl chr 4:169,804,658...169,821,660 		JBrowse link
G M Erp27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,884,312...136,899,465
Ensembl chr 6:136,884,309...136,899,178 		JBrowse link
G H ERP27 endoplasmic reticulum protein 27 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,914,039...14,938,537
Ensembl chr12:14,914,039...14,938,537 		JBrowse link
G N Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164 		JBrowse link
G G ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:11,567,522...11,812,292
Ensembl chr11:11,567,632...11,811,716 		JBrowse link
G P ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,523,433...60,776,750 		JBrowse link
G S Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:5,328,467...5,457,260
Ensembl chrNW_004936587:5,330,665...5,457,264 		JBrowse link
G D ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060 		JBrowse link
G B ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537 		JBrowse link
G C Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:8,698,412...8,912,011
Ensembl chrNW_004955413:8,698,415...8,909,299 		JBrowse link
G R Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G M Etv6 ets variant 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121 		JBrowse link
G H ETV6 ETS variant transcription factor 6 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377 		JBrowse link
G N Fam234b family with sequence similarity 234 member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004624752:24,916,838...24,955,567
Ensembl chrNW_004624752:24,915,436...24,955,879 		JBrowse link
G G FAM234B family with sequence similarity 234 member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr11:12,953,013...12,989,151
Ensembl chr11:12,952,976...12,989,305 		JBrowse link
G P FAM234B family with sequence similarity 234 member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 5:59,410,908...59,493,052
Ensembl chr 5:59,413,064...59,491,536 		JBrowse link
G S Fam234b family with sequence similarity 234 member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004936587:4,246,172...4,280,506
Ensembl chrNW_004936587:4,246,004...4,280,817 		JBrowse link
G D FAM234B family with sequence similarity 234 member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr27:33,302,816...33,337,751
Ensembl chr27:33,305,231...33,337,577 		JBrowse link
G B FAM234B family with sequence similarity 234 member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:13,056,208...13,095,200
Ensembl chr12:13,459,629...13,498,904 		JBrowse link
G C Fam234b family with sequence similarity 234 member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004955413:9,899,940...9,932,050
Ensembl chrNW_004955413:9,899,940...9,932,050 		JBrowse link
G R Fam234b family with sequence similarity 234, member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:168,048,313...168,124,017
Ensembl chr 4:168,048,396...168,097,338 		JBrowse link
G M Fam234b family with sequence similarity 234, member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 6:135,173,881...135,213,240
Ensembl chr 6:135,174,975...135,221,953 		JBrowse link
G H FAM234B family with sequence similarity 234 member B IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:13,044,381...13,083,449
Ensembl chr12:13,044,381...13,142,521 		JBrowse link
G N Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:25,225,750...25,268,547
Ensembl chrNW_004624752:25,237,710...25,268,693 		JBrowse link
G G GPR19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:12,556,503...12,581,565
Ensembl chr11:12,557,204...12,558,451 		JBrowse link
G P GPR19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:59,749,825...59,792,519
Ensembl chr 5:59,753,054...59,792,656 		JBrowse link
G S Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:4,596,231...4,633,792
Ensembl chrNW_004936587:4,596,418...4,633,762 		JBrowse link
G D GPR19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:33,633,048...33,672,824
Ensembl chr27:33,632,819...33,673,760 		JBrowse link
G B GPR19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,686,130...12,723,104
Ensembl chr12:13,064,485...13,065,732 		JBrowse link
G C Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:9,551,156...9,596,279
Ensembl chrNW_004955413:9,551,156...9,586,055 		JBrowse link
G R Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,442,278...169,468,805
Ensembl chr 4:167,710,666...167,741,036 		JBrowse link
G M Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,846,055...134,875,157
Ensembl chr 6:134,846,056...134,875,541 		JBrowse link
G H GPR19 G protein-coupled receptor 19 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,660,890...12,717,246
Ensembl chr12:12,660,890...12,696,207 		JBrowse link
G N Gprc5a G protein-coupled receptor class C group 5 member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004624752:25,061,475...25,077,029
Ensembl chrNW_004624752:25,061,379...25,065,560 		JBrowse link
G G GPRC5A G protein-coupled receptor class C group 5 member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr11:12,800,517...12,820,861
Ensembl chr11:12,816,729...12,820,805 		JBrowse link
G P GPRC5A G protein-coupled receptor class C group 5 member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 5:59,565,793...59,586,641
Ensembl chr 5:59,565,799...59,586,600 		JBrowse link
G S Gprc5a G protein-coupled receptor class C group 5 member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004936587:4,427,208...4,443,302
Ensembl chrNW_004936587:4,427,189...4,443,351 		JBrowse link
G D GPRC5A G protein-coupled receptor class C group 5 member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr27:33,438,196...33,460,062
Ensembl chr27:33,441,527...33,460,377 		JBrowse link
G B GPRC5A G protein-coupled receptor class C group 5 member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,905,682...12,928,596
Ensembl chr12:13,282,865...13,305,727 		JBrowse link
G C Gprc5a G protein-coupled receptor class C group 5 member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004955413:9,765,564...9,784,847
Ensembl chrNW_004955413:9,765,564...9,785,856 		JBrowse link
G R Gprc5a G protein-coupled receptor, class C, group 5, member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:169,634,896...169,653,627
Ensembl chr 4:167,903,542...167,922,260 		JBrowse link
G M Gprc5a G protein-coupled receptor, family C, group 5, member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 6:135,042,660...135,061,707
Ensembl chr 6:135,042,649...135,061,707 		JBrowse link
G H GPRC5A G protein-coupled receptor class C group 5 member A IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,891,562...12,917,937
Ensembl chr12:12,890,782...12,917,937 		JBrowse link
G N Gprc5d G protein-coupled receptor class C group 5 member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004624752:25,029,315...25,039,231
Ensembl chrNW_004624752:25,030,667...25,039,397 		JBrowse link
G G GPRC5D G protein-coupled receptor class C group 5 member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr11:12,846,623...12,869,310
Ensembl chr11:12,846,036...12,857,124 		JBrowse link
G P GPRC5D G protein-coupled receptor class C group 5 member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 5:59,534,913...59,545,417
Ensembl chr 5:59,527,895...59,545,857 		JBrowse link
G S Gprc5d G protein-coupled receptor class C group 5 member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004936587:4,396,912...4,405,416
Ensembl chrNW_004936587:4,395,405...4,405,424 		JBrowse link
G D GPRC5D G protein-coupled receptor class C group 5 member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr27:33,415,856...33,424,772
Ensembl chr27:33,286,571...33,426,458 		JBrowse link
G B GPRC5D G protein-coupled receptor class C group 5 member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,960,297...12,961,437
Ensembl chr12:13,332,090...13,341,470 		JBrowse link
G C Gprc5d G protein-coupled receptor class C group 5 member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004955413:9,805,848...9,815,616
Ensembl chrNW_004955413:9,805,839...9,815,616 		JBrowse link
G R Gprc5d G protein-coupled receptor, class C, group 5, member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,943,523...167,955,616
Ensembl chr 4:167,943,523...167,955,616 		JBrowse link
G M Gprc5d G protein-coupled receptor, family C, group 5, member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 6:135,082,989...135,095,281
Ensembl chr 6:135,082,989...135,095,281 		JBrowse link
G H GPRC5D G protein-coupled receptor class C group 5 member D IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,940,575...12,952,170
Ensembl chr12:12,940,575...12,952,170 		JBrowse link
G N Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chrNW_004624752:24,008,520...24,480,834
Ensembl chrNW_004624752:24,135,487...24,459,288 		JBrowse link
G G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr11:13,444,155...13,873,034
Ensembl chr11:13,456,968...13,873,202 		JBrowse link
G P GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558 		JBrowse link
G S Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664 		JBrowse link
G D GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680 		JBrowse link
G B GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799 		JBrowse link
G C Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145 		JBrowse link
G R Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G M Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) ISO ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509 		JBrowse link
G H GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G N Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004624752:24,898,998...24,916,096
Ensembl chrNW_004624752:24,900,087...24,917,442 		JBrowse link
G G GSG1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr11:12,990,515...13,009,239
Ensembl chr11:12,990,594...13,009,062 		JBrowse link
G P GSG1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 5:59,391,069...59,413,835
Ensembl chr 5:59,391,338...59,411,230 		JBrowse link
G S Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004936587:4,237,760...4,245,449
Ensembl chrNW_004936587:4,237,698...4,245,736 		JBrowse link
G D GSG1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr27:33,286,460...33,302,080
Ensembl chr27:33,286,571...33,426,458 		JBrowse link
G B GSG1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:13,094,993...13,115,653
Ensembl chr12:13,500,276...13,519,134 		JBrowse link
G C Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004955413:9,932,831...9,949,607 JBrowse link
G R Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:169,822,111...169,838,379
Ensembl chr 4:168,090,776...168,107,039 		JBrowse link
G M Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 6:135,214,327...135,231,334
Ensembl chr 6:135,214,324...135,231,349
Ensembl chr 6:135,214,324...135,231,349 		JBrowse link
G H GSG1 germ cell associated 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:13,083,532...13,103,667
Ensembl chr12:13,083,532...13,103,683 		JBrowse link
G N Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,285,987...23,357,662
Ensembl chrNW_004624752:23,286,093...23,357,662 		JBrowse link
G G GUCY2C guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,534,787...14,668,746
Ensembl chr11:14,534,883...14,613,255 		JBrowse link
G P GUCY2C guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,780,484...57,902,475
Ensembl chr 5:57,822,563...57,902,467 		JBrowse link
G S Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,742,911...2,811,139
Ensembl chrNW_004936587:2,742,911...2,810,969 		JBrowse link
G D GUCY2C guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,915,552...31,989,748
Ensembl chr27:31,917,604...31,989,551 		JBrowse link
G B GUCY2C guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,608,794...14,687,190
Ensembl chr12:15,008,099...15,091,647 		JBrowse link
G C Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,410,586...11,489,201
Ensembl chrNW_004955413:11,410,586...11,489,201 		JBrowse link
G R Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:171,299,715...171,380,296
Ensembl chr 4:169,568,529...169,649,092 		JBrowse link
G M Gucy2c guanylate cyclase 2c ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,674,282...136,758,740
Ensembl chr 6:136,674,282...136,758,763 		JBrowse link
G H GUCY2C guanylate cyclase 2C IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599 		JBrowse link
G G H2AFJ H2A histone family member J ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,673,850...14,674,530
Ensembl chr11:14,673,924...14,674,476 		JBrowse link
G P H2AJ H2A.J histone ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,777,008...57,777,673
Ensembl chr 5:57,777,010...57,777,654 		JBrowse link
G D H2AJ H2A.J histone ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,835,433...31,836,150
Ensembl chr27:31,835,623...31,836,012 		JBrowse link
G R H2aj H2A.J histone ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,675,718...169,676,202
Ensembl chr 4:169,675,752...169,677,006 		JBrowse link
G M H2aj H2J.A histone ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,785,246...136,787,072
Ensembl chr 6:136,785,242...136,787,072 		JBrowse link
G H H2AJ H2A.J histone IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,774,405...14,778,002
Ensembl chr12:14,774,405...14,778,002 		JBrowse link
G D H4C16 H4 histone 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,839,899...31,840,463
Ensembl chr27:31,840,011...31,840,322 		JBrowse link
G M H4c16 H4 histone 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,780,991...136,781,429
Ensembl chr 6:136,778,551...136,781,413 		JBrowse link
G H H4C16 H4 histone 16 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,770,720...14,771,131
Ensembl chr12:14,767,999...14,771,131 		JBrowse link
G P H4C20 H4 clustered histone 20 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 7:21,588,850...21,589,244 JBrowse link
G N Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004624752:24,990,615...25,013,194
Ensembl chrNW_004624752:24,989,751...25,014,132 		JBrowse link
G G HEBP1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr11:12,880,234...12,906,915
Ensembl chr11:12,880,203...12,906,895 		JBrowse link
G P HEBP1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 5:59,493,304...59,523,381
Ensembl chr 5:59,493,194...59,523,799 		JBrowse link
G S Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004936587:4,351,024...4,379,177
Ensembl chrNW_004936587:4,350,979...4,379,155 		JBrowse link
G D HEBP1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr27:33,373,682...33,398,356 JBrowse link
G B HEBP1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,985,690...13,012,298
Ensembl chr12:13,385,684...13,416,059 		JBrowse link
G C Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chrNW_004955413:9,832,441...9,856,733
Ensembl chrNW_004955413:9,830,680...9,856,829 		JBrowse link
G R Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:169,705,665...169,735,199
Ensembl chr 4:167,974,319...168,003,854 		JBrowse link
G M Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 6:135,114,517...135,145,213
Ensembl chr 6:135,114,520...135,175,020 		JBrowse link
G H HEBP1 heme binding protein 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr12:12,974,870...13,000,265
Ensembl chr12:12,974,870...13,000,265 		JBrowse link
G G HIST4H4 histone cluster 4, H4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,668,897...14,670,947 JBrowse link
G B LOC100976242 histone H2A.J ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,780,257...14,781,331 JBrowse link
G B LOC100976584 histone H4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,754,453...14,776,508
Ensembl chr12:15,173,609...15,173,920 		JBrowse link
G N LOC101719930 histone H4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,249,356...23,250,067
Ensembl chrNW_004624752:23,243,077...23,249,832 		JBrowse link
G N LOC101720535 histone H2A.J ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,246,253...23,246,912
Ensembl chrNW_004624752:23,246,383...23,246,772 		JBrowse link
G S LOC101977852 histone H2A.J ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,699,169...2,699,845 JBrowse link
G S LOC101978127 histone H4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,702,038...2,704,472 JBrowse link
G C LOC102027285 histone H2A.J ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,520,479...11,521,163
Ensembl chrNW_004955413:11,520,610...11,520,999 		JBrowse link
G C LOC102027630 histone H4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,517,229...11,517,609
Ensembl chrNW_004955413:11,517,245...11,517,556 		JBrowse link
G N Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:25,605,444...25,756,573
Ensembl chrNW_004624752:25,605,302...25,751,893 		JBrowse link
G G LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:12,016,542...12,170,496
Ensembl chr11:12,021,560...12,170,663 		JBrowse link
G P LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:60,149,041...60,318,719
Ensembl chr 5:60,149,028...60,314,662 		JBrowse link
G S Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:5,065,200...5,143,029
Ensembl chrNW_004936587:4,978,043...5,140,191 		JBrowse link
G D LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:34,003,334...34,166,334
Ensembl chr27:34,003,539...34,161,437 		JBrowse link
G B LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973 		JBrowse link
G C Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:9,080,901...9,237,644
Ensembl chrNW_004955413:9,080,914...9,237,650 		JBrowse link
G R Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:168,997,937...169,131,716
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G M Lrp6 low density lipoprotein receptor-related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928 		JBrowse link
G H LRP6 LDL receptor related protein 6 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G N Mansc1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:25,513,972...25,531,198
Ensembl chrNW_004624752:25,513,781...25,532,017 		JBrowse link
G G MANSC1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:12,232,129...12,246,361
Ensembl chr11:12,228,890...12,253,050 		JBrowse link
G P MANSC1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:60,082,414...60,098,111
Ensembl chr 5:60,082,128...60,098,189 		JBrowse link
G S Mansc1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:4,911,517...4,933,016
Ensembl chrNW_004936587:4,917,865...4,933,284 		JBrowse link
G D MANSC1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:33,943,529...33,961,779
Ensembl chr27:33,944,078...33,961,579 		JBrowse link
G B MANSC1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,349,595...12,380,014
Ensembl chr12:12,717,556...12,742,488 		JBrowse link
G C Mansc1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:9,288,565...9,309,762
Ensembl chrNW_004955413:9,286,500...9,309,549 		JBrowse link
G R Mansc1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,438,817...167,459,047
Ensembl chr 4:167,439,071...167,479,606 		JBrowse link
G M Mansc1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,586,170...134,609,451
Ensembl chr 6:134,586,170...134,609,451 		JBrowse link
G H MANSC1 MANSC domain containing 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,326,056...12,350,242
Ensembl chr12:12,326,056...12,350,242 		JBrowse link
G N Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,146,025...23,149,266
Ensembl chrNW_004624752:23,146,166...23,149,048 		JBrowse link
G G MGP matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,776,668...14,780,796
Ensembl chr11:14,776,209...14,780,947 		JBrowse link
G P MGP matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764 		JBrowse link
G S Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,601,419...2,605,848
Ensembl chrNW_004936587:2,601,312...2,605,870 		JBrowse link
G D MGP matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673 		JBrowse link
G B MGP matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523 		JBrowse link
G C Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,614,851...11,618,090
Ensembl chrNW_004955413:11,615,078...11,618,024 		JBrowse link
G R Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:169,766,279...169,769,667 		JBrowse link
G M Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,849,433...136,852,821
Ensembl chr 6:136,849,433...136,852,821 		JBrowse link
G H MGP matrix Gla protein IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G N Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,051,486...23,055,128
Ensembl chrNW_004624752:23,051,752...23,055,103 		JBrowse link
G G PDE6H phosphodiesterase 6H ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,869,864...14,880,307
Ensembl chr11:14,870,498...14,880,324 		JBrowse link
G P PDE6H phosphodiesterase 6H ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,555,448...57,582,324
Ensembl chr 5:57,556,149...57,594,423 		JBrowse link
G S Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,505,755...2,514,103
Ensembl chrNW_004936587:2,506,585...2,514,157 		JBrowse link
G D PDE6H phosphodiesterase 6H ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,640,731...31,664,494
Ensembl chr27:31,640,737...31,664,401 		JBrowse link
G B PDE6H phosphodiesterase 6H ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,890,192...14,984,542
Ensembl chr12:15,372,413...15,381,249 		JBrowse link
G C Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,654,252...11,711,799
Ensembl chrNW_004955413:11,703,378...11,712,075 		JBrowse link
G R Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969 		JBrowse link
G M Pde6h phosphodiesterase 6H, cGMP-specific, cone, gamma ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,929,216...136,940,483
Ensembl chr 6:136,900,830...136,945,863 		JBrowse link
G H PDE6H phosphodiesterase 6H IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865 		JBrowse link
G N Plbd1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,408,510...23,468,477
Ensembl chrNW_004624752:23,422,716...23,468,087 		JBrowse link
G G PLBD1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,397,766...14,468,292
Ensembl chr11:14,397,877...14,468,125 		JBrowse link
G P PLBD1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,950,872...58,022,059
Ensembl chr 5:57,948,779...58,022,058 		JBrowse link
G S Plbd1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,869,059...2,918,628
Ensembl chrNW_004936587:2,869,006...2,918,511 		JBrowse link
G D PLBD1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:32,031,073...32,081,910
Ensembl chr27:32,030,824...32,081,918 		JBrowse link
G B PLBD1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,509,377...14,573,087
Ensembl chr12:14,905,980...14,969,902 		JBrowse link
G C Plbd1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,266,589...11,326,565
Ensembl chrNW_004955413:11,266,696...11,326,055 		JBrowse link
G R Plbd1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,472,983...169,529,277
Ensembl chr 4:169,472,983...169,529,277 		JBrowse link
G M Plbd1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,589,069...136,639,301
Ensembl chr 6:136,589,068...136,638,926 		JBrowse link
G H PLBD1 phospholipase B domain containing 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,503,661...14,567,883
Ensembl chr12:14,503,661...14,567,883 		JBrowse link
G N Ptpro protein tyrosine phosphatase receptor type O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:22,446,203...22,700,925
Ensembl chrNW_004624752:22,445,311...22,700,904 		JBrowse link
G G PTPRO protein tyrosine phosphatase receptor type O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:15,225,375...15,494,559
Ensembl chr11:15,392,926...15,495,807 		JBrowse link
G P PTPRO protein tyrosine phosphatase receptor type O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,021,819...57,263,395
Ensembl chr 5:57,019,745...57,263,346 		JBrowse link
G S Ptpro protein tyrosine phosphatase receptor type O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:1,967,079...2,188,651
Ensembl chrNW_004936587:1,964,665...2,188,672 		JBrowse link
G D PTPRO protein tyrosine phosphatase receptor type O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,082,334...31,322,024
Ensembl chr27:31,084,544...31,322,022 		JBrowse link
G B PTPRO protein tyrosine phosphatase receptor type O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:15,329,314...15,594,787
Ensembl chr12:15,725,917...15,990,532 		JBrowse link
G C Ptpro protein tyrosine phosphatase receptor type O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:12,019,026...12,248,026
Ensembl chrNW_004955413:12,018,888...12,248,807 		JBrowse link
G R Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:171,895,104...172,105,911
Ensembl chr 4:170,164,431...170,374,771 		JBrowse link
G M Ptpro protein tyrosine phosphatase receptor type O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:137,229,189...137,440,251
Ensembl chr 6:137,229,317...137,440,231 		JBrowse link
G H PTPRO protein tyrosine phosphatase receptor type O IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:15,322,508...15,598,331
Ensembl chr12:15,322,257...15,602,175 		JBrowse link
G N Rerg RAS like estrogen regulated growth inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:22,780,248...22,929,395
Ensembl chrNW_004624752:22,783,519...22,928,070 		JBrowse link
G G RERG RAS like estrogen regulated growth inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:15,008,557...15,121,538
Ensembl chr11:15,008,524...15,121,233 		JBrowse link
G P RERG RAS like estrogen regulated growth inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,349,386...57,462,813
Ensembl chr 5:57,349,382...57,462,804 		JBrowse link
G S Rerg RAS like estrogen regulated growth inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,277,548...2,396,206
Ensembl chrNW_004936587:2,277,427...2,396,218 		JBrowse link
G D RERG RAS like estrogen regulated growth inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,413,464...31,526,838
Ensembl chr27:31,417,487...31,525,496 		JBrowse link
G B RERG RAS like estrogen regulated growth inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:15,116,892...15,229,737
Ensembl chr12:15,513,205...15,626,563 		JBrowse link
G C Rerg RAS like estrogen regulated growth inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,825,235...11,940,390
Ensembl chrNW_004955413:11,825,235...11,940,804 		JBrowse link
G R Rerg RAS-like, estrogen-regulated, growth-inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,981,634...170,089,777
Ensembl chr 4:169,982,279...170,089,715 		JBrowse link
G M Rerg RAS-like, estrogen-regulated, growth-inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:137,031,822...137,147,494
Ensembl chr 6:137,031,823...137,147,495 		JBrowse link
G H RERG RAS like estrogen regulated growth inhibitor IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:15,107,783...15,221,417
Ensembl chr12:15,107,783...15,348,675 		JBrowse link
G N Smco3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,208,960...23,217,980
Ensembl chrNW_004624752:23,209,102...23,217,898 		JBrowse link
G G SMCO3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,706,314...14,714,933
Ensembl chr11:14,706,660...14,707,337 		JBrowse link
G P SMCO3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,740,231...57,748,519
Ensembl chr 5:57,740,226...57,746,997 		JBrowse link
G S Smco3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,664,782...2,671,045
Ensembl chrNW_004936587:2,669,782...2,670,459 		JBrowse link
G D SMCO3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,795,400...31,803,692
Ensembl chr27:31,802,393...31,803,070 		JBrowse link
G B SMCO3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,810,020...14,820,160
Ensembl chr12:15,208,856...15,209,533 		JBrowse link
G C Smco3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,551,720...11,560,566
Ensembl chrNW_004955413:11,551,720...11,560,559 		JBrowse link
G R Smco3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,719,962...169,728,849
Ensembl chr 4:169,719,949...169,728,133 		JBrowse link
G M Smco3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,806,929...136,812,448
Ensembl chr 6:136,806,925...136,812,450 		JBrowse link
G H SMCO3 single-pass membrane protein with coiled-coil domains 3 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,804,650...14,814,182
Ensembl chr12:14,804,650...14,814,182 		JBrowse link
G N Wbp11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624752:23,220,021...23,235,739 JBrowse link
G G WBP11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr11:14,686,047...14,704,172
Ensembl chr11:14,686,636...14,704,127 		JBrowse link
G P WBP11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 5:57,749,948...57,766,788 JBrowse link
G S Wbp11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004936587:2,673,206...2,687,298 JBrowse link
G D WBP11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr27:31,805,590...31,822,602
Ensembl chr27:31,805,590...31,821,147 		JBrowse link
G B WBP11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,791,495...14,809,460
Ensembl chr12:15,189,323...15,206,377 		JBrowse link
G C Wbp11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004955413:11,533,303...11,549,067 JBrowse link
G R Wbp11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,680,984...169,694,431
Ensembl chr 4:169,680,983...169,694,443 		JBrowse link
G M Wbp11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,790,652...136,805,214
Ensembl chr 6:136,790,652...136,805,231 		JBrowse link
G H WBP11 WW domain binding protein 11 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chrNW_004624786:10,795,848...10,819,029
Ensembl chrNW_004624786:10,795,193...10,819,613 		JBrowse link
G G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr16:7,594,493...7,618,202
Ensembl chr16:7,594,219...7,615,754 		JBrowse link
G P CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr12:53,427,807...53,454,149
Ensembl chr12:53,428,367...53,454,126 		JBrowse link
G S Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593 		JBrowse link
G D CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142 		JBrowse link
G B CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537 		JBrowse link
G C Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165 		JBrowse link
G R Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome		 CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr10:54,212,537...54,234,146
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G M Ctc1 CTS telomere maintenance complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome		 CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299 		JBrowse link
G H CTC1 CST telomere replication complex component 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome		 CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G N Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624831:2,999,061...3,030,447
Ensembl chrNW_004624831:2,999,800...3,030,443 		JBrowse link
G G STN1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:96,919,584...96,967,941
Ensembl chr 9:96,915,951...96,967,394 		JBrowse link
G P STN1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:114,808,217...114,851,130
Ensembl chr14:114,810,201...114,851,025 		JBrowse link
G S Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936600:2,230,754...2,266,956
Ensembl chrNW_004936600:2,230,705...2,266,968 		JBrowse link
G D STN1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr28:16,203,607...16,246,468
Ensembl chr28:16,204,073...16,246,058 		JBrowse link
G B STN1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:100,456,589...100,518,010
Ensembl chr10:103,942,422...103,977,847 		JBrowse link
G C Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955485:6,748,682...6,784,119
Ensembl chrNW_004955485:6,748,234...6,784,762 		JBrowse link
G R Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:246,395,613...246,429,531 		JBrowse link
G M Stn1 STN1, CST complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946 		JBrowse link
G H STN1 STN1 subunit of CST complex EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chrNW_004624786:10,795,848...10,819,029
Ensembl chrNW_004624786:10,795,193...10,819,613 		JBrowse link
G G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chr16:7,594,493...7,618,202
Ensembl chr16:7,594,219...7,615,754 		JBrowse link
G P CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chr12:53,427,807...53,454,149
Ensembl chr12:53,428,367...53,454,126 		JBrowse link
G S Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593 		JBrowse link
G D CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142 		JBrowse link
G B CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537 		JBrowse link
G C Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165 		JBrowse link
G R Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chr10:54,212,537...54,234,146
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G M Ctc1 CTS telomere maintenance complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299 		JBrowse link
G H CTC1 CST telomere replication complex component 1 IAGP ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G N Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624786:10,831,287...10,854,526
Ensembl chrNW_004624786:10,836,943...10,853,274 		JBrowse link
G G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr16:7,618,952...7,639,700
Ensembl chr16:7,623,817...7,638,594 		JBrowse link
G P PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr12:53,458,401...53,477,254 JBrowse link
G S Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936595:1,483,688...1,499,716
Ensembl chrNW_004936595:1,483,689...1,501,364 		JBrowse link
G D PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G B PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720 		JBrowse link
G C Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979 		JBrowse link
G R Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr10:54,189,157...54,210,685
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G M Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr11:68,876,527...68,899,286
Ensembl chr11:68,876,523...68,899,286 		JBrowse link
G H PFAS phosphoribosylformylglycinamidine synthase IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
ClinVar Annotator: match by term: CTC1-related condition		 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr17:8,247,608...8,270,486
Ensembl chr17:8,247,618...8,270,491 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chrNW_004624831:2,999,061...3,030,447
Ensembl chrNW_004624831:2,999,800...3,030,443 		JBrowse link
G G STN1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chr 9:96,919,584...96,967,941
Ensembl chr 9:96,915,951...96,967,394 		JBrowse link
G P STN1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chr14:114,808,217...114,851,130
Ensembl chr14:114,810,201...114,851,025 		JBrowse link
G S Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chrNW_004936600:2,230,754...2,266,956
Ensembl chrNW_004936600:2,230,705...2,266,968 		JBrowse link
G D STN1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chr28:16,203,607...16,246,468
Ensembl chr28:16,204,073...16,246,058 		JBrowse link
G B STN1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chr10:100,456,589...100,518,010
Ensembl chr10:103,942,422...103,977,847 		JBrowse link
G C Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chrNW_004955485:6,748,682...6,784,119
Ensembl chrNW_004955485:6,748,234...6,784,762 		JBrowse link
G R Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:246,395,613...246,429,531 		JBrowse link
G M Stn1 STN1, CST complex subunit ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946 		JBrowse link
G H STN1 STN1 subunit of CST complex IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition		 OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25741868 PMID:26467025 More... NCBI chrNW_004624783:11,138,222...11,223,329
Ensembl chrNW_004624783:11,138,303...11,223,044 		JBrowse link
G G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25741868 PMID:26467025 More... NCBI chr21:93,572,139...93,688,374
Ensembl chr21:93,571,272...93,655,869 		JBrowse link
G P POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25741868 PMID:26467025 More... NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890 		JBrowse link
G S Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201 		JBrowse link
G D POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25741868 PMID:26467025 More... NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956 		JBrowse link
G B POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25741868 PMID:26467025 More... NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558 		JBrowse link
G C Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955479:6,140,599...6,230,512
Ensembl chrNW_004955479:6,140,501...6,209,031 		JBrowse link
G R Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25741868 PMID:26467025 More... NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G H POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25741868 PMID:26467025 More... NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
G M Pot1a protection of telomeres 1A ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25741868 PMID:26467025 More... NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245 		JBrowse link
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ARHGAP11B Rho GTPase activating protein 11B IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,626,128...30,649,229
Ensembl chr15:30,624,494...30,649,529 		JBrowse link
G N Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624768:908,907...1,024,953
Ensembl chrNW_004624768:909,099...1,024,902 		JBrowse link
G G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803 		JBrowse link
G P CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123 		JBrowse link
G S Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004937351:32,324...46,871
Ensembl chrNW_004937351:34,921...47,246 		JBrowse link
G D CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399 		JBrowse link
G C Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955416:30,687,518...30,798,700
Ensembl chrNW_004955416:30,687,478...30,798,700 		JBrowse link
G R Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome		 CTD
ClinVar		 PMID:25741868 PMID:31690835 NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G M Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome		 CTD
ClinVar		 PMID:25741868 PMID:31690835 NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317 		JBrowse link
G H CHRNA7 cholinergic receptor nicotinic alpha 7 subunit IAGP
EXP		 ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:31690835 NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018 		JBrowse link
G N Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:1,923,777...1,955,255 JBrowse link
G G FAN1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:51,720,822...51,759,652
Ensembl chr26:51,725,017...51,759,413 		JBrowse link
G P FAN1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:143,919,695...143,961,678
Ensembl chr 1:143,913,551...143,961,646 		JBrowse link
G S Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:916,377...949,833
Ensembl chrNW_004936483:912,346...949,833 		JBrowse link
G D FAN1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 3:38,013,744...38,053,096
Ensembl chr 3:38,013,739...38,052,202 		JBrowse link
G B FAN1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,395,348...9,435,434
Ensembl chr15:28,433,749...28,473,211 		JBrowse link
G C Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:29,722,280...29,757,960
Ensembl chrNW_004955416:29,722,280...29,757,742 		JBrowse link
G R Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:127,327,098...127,356,807
Ensembl chr 1:117,917,099...117,944,977 		JBrowse link
G M Fan1 FANCD2/FANCI-associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:63,994,627...64,023,874
Ensembl chr 7:63,996,506...64,023,843 		JBrowse link
G H FAN1 FANCD2 and FANCI associated nuclease 1 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108 		JBrowse link
G N Klf13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:1,568,168...1,612,324
Ensembl chrNW_004624768:1,573,326...1,612,211 		JBrowse link
G G KLF13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:51,308,233...51,359,433
Ensembl chr26:51,313,743...51,359,340 		JBrowse link
G P KLF13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:143,499,136...143,540,233
Ensembl chr 1:143,493,527...143,540,563 		JBrowse link
G S Klf13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:477,490...575,143
Ensembl chrNW_004936483:532,736...575,237 		JBrowse link
G D KLF13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835
G B KLF13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,818,294...9,964,912 JBrowse link
G C Klf13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:30,087,705...30,137,437 JBrowse link
G R Klf13 KLF transcription factor 13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome		 CTD
ClinVar		 PMID:31690835 NCBI chr 1:126,917,671...126,948,436
Ensembl chr 1:117,503,602...117,551,227 		JBrowse link
G M Klf13 Kruppel-like transcription factor 13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome		 CTD
ClinVar		 PMID:31690835 NCBI chr 7:63,536,099...63,588,663
Ensembl chr 7:63,536,099...63,588,663 		JBrowse link
G H KLF13 KLF transcription factor 13 IAGP
EXP		 ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:31690835 NCBI chr15:31,326,835...31,435,665
Ensembl chr15:31,326,835...31,435,665 		JBrowse link
G H LINC02352 long intergenic non-protein coding RNA 2352 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,216,021...31,225,007
Ensembl chr15:31,214,784...31,225,007 		JBrowse link
G H LINC03034 long intergenic non-protein coding RNA 3034 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,222,767...31,230,862
Ensembl chr15:31,202,931...31,230,886 		JBrowse link
G B LOC100977072 neuronal acetylcholine receptor subunit alpha-7 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194 		JBrowse link
G H LOC106736476 proximal CHRNA7 low-copy repeat recombination region IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,696,739...30,736,191 JBrowse link
G H LOC106736477 distal CHRNA7 low-copy repeat recombination region IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,669,429...31,708,953 JBrowse link
G H LOC106736480 15q13 proximal microdeletion recombination region IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,614,939...30,628,733 JBrowse link
G H LOC106783506 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:30917238-30918231 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,625,035...30,626,187 JBrowse link
G H LOC110121498 VISTA enhancer hs2231 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,303,587...31,308,005 JBrowse link
G H LOC112272582 Sharpr-MPRA regulatory region 5138 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,236,506...31,236,800 JBrowse link
G H LOC121847941 Sharpr-MPRA regulatory region 8183 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,024,406...31,024,700 JBrowse link
G H LOC125078053 Sharpr-MPRA regulatory region 11410 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,867,846...31,868,140 JBrowse link
G H LOC126862088 BRD4-independent group 4 enhancer GRCh37_chr15:31318084-31319283 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,025,881...31,027,080 JBrowse link
G H LOC126862089 MED14-independent group 3 enhancer GRCh37_chr15:31442413-31443612 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,150,210...31,151,777 JBrowse link
G H LOC127829159 KLF13 promoter region IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,325,960...31,327,016 JBrowse link
G H LOC128899998 KLF13-II enhancer IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,298,793...31,299,108 JBrowse link
G H LOC128899999 KLF13-III enhancer IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,303,190...31,303,492 JBrowse link
G H LOC129390679 MPRA-validated peak2284 silencer IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,839,892...30,840,092 JBrowse link
G H LOC129390680 MPRA-validated peak2285 silencer IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,885,893...30,886,093 JBrowse link
G H LOC130056726 ATAC-STARR-seq lymphoblastoid silent region 6267 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,392,497...31,392,546 JBrowse link
G H LOC130056727 ATAC-STARR-seq lymphoblastoid silent region 6268 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,870,636...31,870,705 JBrowse link
G D MIR211 microRNA mir-211 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 3:37,882,660...37,882,759
Ensembl chr 3:37,882,660...37,882,759 		JBrowse link
G R Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:127,189,328...127,189,433
Ensembl chr 1:117,777,539...117,777,644 		JBrowse link
G M Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:63,855,554...63,855,659
Ensembl chr 7:63,855,554...63,855,659 		JBrowse link
G H MIR211 microRNA 211 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,065,032...31,065,141
Ensembl chr15:31,065,032...31,065,141 		JBrowse link
G N Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:1,880,930...1,923,685
Ensembl chrNW_004624768:1,881,210...1,923,685 		JBrowse link
G G MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:51,670,086...51,723,401
Ensembl chr26:51,670,132...51,724,226 		JBrowse link
G P MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:143,867,746...143,917,881
Ensembl chr 1:143,867,839...143,917,878 		JBrowse link
G S Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:863,667...915,579
Ensembl chrNW_004936483:863,639...916,843 		JBrowse link
G D MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 3:37,958,771...38,012,893
Ensembl chr 3:37,960,004...38,011,344 		JBrowse link
G B MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,431,261...9,484,107
Ensembl chr15:28,469,039...28,521,997 		JBrowse link
G C Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:29,758,048...29,803,701
Ensembl chrNW_004955416:29,758,048...29,805,029 		JBrowse link
G R Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:127,271,139...127,322,621
Ensembl chr 1:117,859,267...117,910,849 		JBrowse link
G M Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:63,937,443...63,990,556
Ensembl chr 7:63,937,401...63,990,554 		JBrowse link
G H MTMR10 myotubularin related protein 10 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,918,716...30,991,628
Ensembl chr15:30,938,941...30,991,628 		JBrowse link
G N Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:1,326,417...1,482,474
Ensembl chrNW_004624768:1,348,377...1,482,158 		JBrowse link
G G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:50,842,957...51,213,515 JBrowse link
G P OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:143,109,177...143,426,305
Ensembl chr 1:143,280,174...143,419,237 		JBrowse link
G S Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:113,611...432,439
Ensembl chrNW_004936483:302,953...430,825 		JBrowse link
G D OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 3:37,348,167...37,548,357
Ensembl chr 3:37,348,170...37,548,885 		JBrowse link
G B OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,974,737...10,360,991 JBrowse link
G C Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:30,244,875...30,427,829 JBrowse link
G R Otud7a OTU deubiquitinase 7A ISS
ISO		 OMIM:612001
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome		 MouseDO
ClinVar		 PMID:31690835 NCBI chr 1:126,476,275...126,800,037
Ensembl chr 1:117,064,496...117,386,480 		JBrowse link
G M Otud7a OTU domain containing 7A IAGP
ISO		 OMIM:612001
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome		 MouseDO
ClinVar		 PMID:31690835 NCBI chr 7:63,094,493...63,415,980
Ensembl chr 7:63,094,499...63,408,776 		JBrowse link
G H OTUD7A OTU deubiquitinase 7A IAGP
ISS		 ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
OMIM:612001		 ClinVar
MouseDO		 PMID:31690835 NCBI chr15:31,475,398...31,870,673
Ensembl chr15:31,475,398...31,870,789 		JBrowse link
G N Trpm1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:1,802,601...1,873,627
Ensembl chrNW_004624768:1,757,293...1,873,627 		JBrowse link
G G TRPM1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:51,560,992...51,660,857
Ensembl chr26:51,586,041...51,660,171 		JBrowse link
G P TRPM1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:143,718,295...143,856,968
Ensembl chr 1:143,709,864...143,855,984 		JBrowse link
G S Trpm1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:723,784...856,839
Ensembl chrNW_004936483:724,018...858,855 		JBrowse link
G D TRPM1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 3:37,860,730...37,949,108
Ensembl chr 3:37,817,339...37,949,108 		JBrowse link
G B TRPM1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,492,500...9,653,644
Ensembl chr15:28,530,878...28,690,947 		JBrowse link
G C Trpm1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:29,846,374...29,880,922
Ensembl chrNW_004955416:29,814,077...29,939,344 		JBrowse link
G R Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:127,130,686...127,247,219
Ensembl chr 1:117,718,896...117,834,605 		JBrowse link
G M Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523 		JBrowse link
G H TRPM1 transient receptor potential cation channel subfamily M member 1 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,001,065...31,161,160
Ensembl chr15:31,001,065...31,161,160 		JBrowse link
craniosynostosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome OMIM
ClinVar		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chrNW_004624733:15,288,417...15,294,481
Ensembl chrNW_004624733:15,288,326...15,294,568 		JBrowse link
G G MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome OMIM
ClinVar		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr23:76,873,499...76,879,935
Ensembl chr23:76,873,669...76,879,553 		JBrowse link
G P MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome OMIM
ClinVar		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr16:49,765,587...49,771,745
Ensembl chr16:49,765,910...49,771,789 		JBrowse link
G S Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome OMIM
ClinVar		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chrNW_004936609:1,216,436...1,221,528
Ensembl chrNW_004936609:1,216,436...1,221,561 		JBrowse link
G D MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome OMIM
ClinVar		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr 4:38,002,724...38,007,407
Ensembl chr 4:38,002,428...38,007,407 		JBrowse link
G B MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome OMIM
ClinVar		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr 5:170,063,137...170,070,226
Ensembl chr 5:176,967,902...176,976,609 		JBrowse link
G C Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome OMIM
ClinVar		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chrNW_004955408:27,323,405...27,329,484
Ensembl chrNW_004955408:27,323,360...27,329,755 		JBrowse link
G R Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
G M Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
G H MSX2 msh homeobox 2 IAGP
EXP		 ClinVar Annotator: match by term: Craniosynostosis 2
ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		JBrowse link
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chrNW_004624766:21,799,282...21,832,267
Ensembl chrNW_004624766:21,799,119...21,833,631 		JBrowse link
G G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chr 1:487,497...510,440 JBrowse link
G P DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chr 2:404,514...427,584
Ensembl chr 2:404,533...427,542 		JBrowse link
G S Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chrNW_004936888:473,651...497,152
Ensembl chrNW_004936888:473,974...497,158 		JBrowse link
G D DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chr18:25,711,683...25,733,144
Ensembl chr18:25,711,706...25,733,069 		JBrowse link
G B DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chr11:652,337...709,854 JBrowse link
G C Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chrNW_004955476:11,398,187...11,422,633
Ensembl chrNW_004955476:11,398,448...11,423,654 		JBrowse link
G R Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chr 1:205,831,428...205,865,106
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
G M Deaf1 DEAF1, transcription factor ISO ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chr 7:140,877,089...140,918,758
Ensembl chr 7:140,877,093...140,907,603 		JBrowse link
G H DEAF1 DEAF1 transcription factor IAGP ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder
ClinVar Annotator: match by term: DEAF1-related disorder
ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G H LOC126861109 BRD4-independent group 4 enhancer GRCh37_chr11:673917-675116 IAGP ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder
ClinVar Annotator: match by term: DEAF1-related disorder		 ClinVar PMID:25741868 PMID:28492532 PMID:30923367 PMID:36368308 NCBI chr11:673,917...675,116 JBrowse link
EAST syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr20:3,801,044...3,828,680
Ensembl chr20:3,802,887...3,828,692 		JBrowse link
G P ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996 		JBrowse link
G S Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:489,357...514,235
Ensembl chrNW_004936740:488,154...514,308 		JBrowse link
G B ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303 		JBrowse link
G C Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400 		JBrowse link
G R Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:87,261,964...87,286,911
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G M Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631 		JBrowse link
G H ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G D ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604 		JBrowse link
G N Igsf8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chrNW_004624794:1,155,452...1,162,191
Ensembl chrNW_004624794:1,155,270...1,164,960 		JBrowse link
G G IGSF8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr20:3,845,767...3,853,077
Ensembl chr20:3,848,946...3,852,609 		JBrowse link
G P IGSF8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 4:90,393,614...90,401,380
Ensembl chr 4:90,393,624...90,401,369 		JBrowse link
G S Igsf8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:528,826...535,776
Ensembl chrNW_004936740:528,821...535,776 		JBrowse link
G D IGSF8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr38:22,093,463...22,100,009
Ensembl chr38:22,062,591...22,100,020 		JBrowse link
G B IGSF8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:135,445,180...135,452,684
Ensembl chr 1:139,366,228...139,374,732 		JBrowse link
G C Igsf8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:11,877,369...11,883,962
Ensembl chrNW_004955468:11,877,369...11,883,962 		JBrowse link
G R Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:87,282,015...87,314,018
Ensembl chr13:84,770,279...84,778,576 		JBrowse link
G M Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:172,139,934...172,147,410
Ensembl chr 1:172,089,208...172,147,408 		JBrowse link
G H IGSF8 immunoglobulin superfamily member 8 IAGP ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:160,091,339...160,099,468
Ensembl chr 1:160,091,340...160,098,943 		JBrowse link
G N Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome OMIM
ClinVar		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... NCBI chrNW_004624794:1,180,822...1,211,781
Ensembl chrNW_004624794:1,180,834...1,212,456 		JBrowse link
G G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome OMIM
ClinVar		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... NCBI chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652 		JBrowse link
G P KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome OMIM
ClinVar		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406 		JBrowse link
G S Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome OMIM
ClinVar		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... NCBI chrNW_004936740:555,948...589,219
Ensembl chrNW_004936740:555,998...586,353 		JBrowse link
G D KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO
IAGP		 ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
Ataxia, cerebellar, KCNJ10-related		 OMIM
ClinVar
OMIA		 PMID:2061870 PMID:4747697 PMID:15320590 PMID:19289823 PMID:19420365 More... NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		JBrowse link
G B KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome OMIM
ClinVar		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... NCBI chr 1:135,391,321...135,424,100 JBrowse link
G C Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome OMIM
ClinVar		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... NCBI chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365 		JBrowse link
G R Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO
ISS		 ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
OMIM:612780
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G M Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO
IAGP		 ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
CTD Direct Evidence: marker/mechanism
OMIM:612780
DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		JBrowse link
G H KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP
ISS
EXP		 DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)
ClinVar Annotator: match by term: EAST syndrome
ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome
ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
OMIM:612780
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G N Kcnj9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chrNW_004624794:1,161,336...1,171,321
Ensembl chrNW_004624794:1,159,930...1,170,838 		JBrowse link
G G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr20:3,853,906...3,913,049
Ensembl chr20:3,856,705...3,860,665 		JBrowse link
G P KCNJ9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 4:90,402,042...90,412,426
Ensembl chr 4:90,397,850...90,412,373 		JBrowse link
G S Kcnj9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:536,397...545,137
Ensembl chrNW_004936740:538,688...545,247 		JBrowse link
G D KCNJ9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr38:22,100,627...22,104,165
Ensembl chr38:22,100,621...22,104,167 		JBrowse link
G B KCNJ9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:135,433,895...135,447,397
Ensembl chr 1:139,356,387...139,365,444 		JBrowse link
G C Kcnj9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:11,868,358...11,877,298
Ensembl chrNW_004955468:11,868,535...11,877,298 		JBrowse link
G R Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:87,313,191...87,320,293
Ensembl chr13:84,779,741...84,787,928 		JBrowse link
G M Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:172,148,075...172,156,889
Ensembl chr 1:172,148,068...172,156,885 		JBrowse link
G H KCNJ9 potassium inwardly rectifying channel subfamily J member 9 IAGP ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:160,081,538...160,090,563
Ensembl chr 1:160,081,538...160,090,563 		JBrowse link
G H LOC129931687 ATAC-STARR-seq lymphoblastoid silent region 1457 IAGP ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome ClinVar NCBI chr 1:160,070,122...160,070,351 JBrowse link
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC130058793 ATAC-STARR-seq lymphoblastoid active region 10682 IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,825,128...29,825,207 JBrowse link
G H LOC130058794 ATAC-STARR-seq lymphoblastoid active region 10683 IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,825,268...29,825,397 JBrowse link
G N Mvp major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chrNW_004624782:13,363,121...13,386,961
Ensembl chrNW_004624782:13,363,000...13,387,086 		JBrowse link
G G MVP major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr 5:26,805,070...26,833,043
Ensembl chr 5:26,801,753...26,833,199 		JBrowse link
G P MVP major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr 3:18,056,548...18,081,169
Ensembl chr 3:18,057,177...18,081,155 		JBrowse link
G S Mvp major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chrNW_004936501:12,598,907...12,610,306
Ensembl chrNW_004936501:12,599,036...12,655,910 		JBrowse link
G D MVP major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr 6:17,879,687...17,903,184
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G B MVP major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 Ensembl chr16:30,190,090...30,219,070 JBrowse link
G C Mvp major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chrNW_004955493:7,113,194...7,141,944
Ensembl chrNW_004955493:7,113,319...7,143,582 		JBrowse link
G R Mvp major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr 1:191,025,259...191,052,866
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G M Mvp major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr 7:126,586,036...126,613,729
Ensembl chr 7:126,586,032...126,613,793 		JBrowse link
G H MVP major vault protein IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,820,394...29,848,039
Ensembl chr16:29,820,394...29,848,039 		JBrowse link
G B MVP-DT MVP divergent transcript ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS ClinVar PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More...
G H MVP-DT MVP divergent transcript IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial
ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS		 ClinVar PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252 		JBrowse link
G N Prrt2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS OMIM
ClinVar		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chrNW_004624782:13,390,347...13,393,775 JBrowse link
G G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS OMIM
ClinVar		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr 5:26,838,280...26,841,918
Ensembl chr 5:26,839,454...26,841,916 		JBrowse link
G P PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS OMIM
ClinVar		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr 3:18,048,614...18,052,481
Ensembl chr 3:18,048,618...18,052,480 		JBrowse link
G S Prrt2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS OMIM
ClinVar		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chrNW_004936501:12,660,181...12,663,788
Ensembl chrNW_004936501:12,659,905...12,663,110 		JBrowse link
G D PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS OMIM
ClinVar		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G B PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS OMIM
ClinVar		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... Ensembl chr16:30,183,352...30,187,862 JBrowse link
G C Prrt2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS OMIM
ClinVar		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chrNW_004955493:7,144,389...7,148,613 JBrowse link
G R Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr 1:191,054,962...191,059,632
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
G M Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383 		JBrowse link
G H PRRT2 proline rich transmembrane protein 2 IAGP
EXP		 ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial
ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Adk adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chrNW_004624754:7,612,817...8,156,038
Ensembl chrNW_004624754:7,612,881...8,156,681 		JBrowse link
G G ADK adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr 9:56,659,284...57,222,279
Ensembl chr 9:56,660,129...57,222,147 		JBrowse link
G P ADK adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr14:76,836,072...77,320,586
Ensembl chr14:76,836,095...77,322,416 		JBrowse link
G S Adk adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chrNW_004936521:4,560,078...5,023,780
Ensembl chrNW_004936521:4,557,971...5,023,800 		JBrowse link
G D ADK adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr 4:24,540,626...25,047,032
Ensembl chr 4:24,540,659...25,046,464 		JBrowse link
G B ADK adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr10:70,672,967...71,236,950
Ensembl chr10:73,342,900...73,902,490 		JBrowse link
G C Adk adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chrNW_004955437:17,279,541...17,786,140
Ensembl chrNW_004955437:17,279,240...17,786,079 		JBrowse link
G R Adk adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr15:2,912,543...3,295,745
Ensembl chr15:2,863,244...3,246,510 		JBrowse link
G M Adk adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr14:21,102,622...21,498,637
Ensembl chr14:21,102,642...21,498,637 		JBrowse link
G H ADK adenosine kinase IAGP ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency		 ClinVar
OMIM		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963 		JBrowse link
G H LOC102723439 uncharacterized LOC102723439 IAGP ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
ClinVar Annotator: match by term: ADK-related condition		 ClinVar PMID:21963049 PMID:25741868 PMID:26642971 PMID:28492532 NCBI chr10:74,506,498...74,529,324 JBrowse link
hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624775:14,992,189...15,066,787
Ensembl chrNW_004624775:14,992,335...15,065,970 		JBrowse link
G G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr25:72,614,998...72,677,383
Ensembl chr25:72,611,475...72,677,356 		JBrowse link
G P B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:55,749,409...55,818,738
Ensembl chr14:55,749,473...55,818,004 		JBrowse link
G S B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936484:17,012,403...17,049,519
Ensembl chrNW_004936484:17,012,537...17,049,511 		JBrowse link
G D B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:4,434,987...4,489,844
Ensembl chr 4:4,433,871...4,490,903 		JBrowse link
G B B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060 		JBrowse link
G C B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531 		JBrowse link
G R B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G M B3galnt2 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:14,129,059...14,173,688
Ensembl chr13:14,129,054...14,173,688 		JBrowse link
G H B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G H LOC126806060 MED14-independent group 3 enhancer GRCh37_chr1:235605546-235606745 IAGP ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:235,442,231...235,443,430 JBrowse link
G N Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome OMIM
ClinVar		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chrNW_004624775:15,067,044...15,132,690
Ensembl chrNW_004624775:15,067,044...15,133,008 		JBrowse link
G G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome OMIM
ClinVar		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chr25:72,544,942...72,616,716
Ensembl chr25:72,545,012...72,612,622 		JBrowse link
G P TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome OMIM
ClinVar		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chr14:55,816,663...55,901,215
Ensembl chr14:55,816,668...55,901,171 		JBrowse link
G S Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome OMIM
ClinVar		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chrNW_004936484:17,048,187...17,097,414
Ensembl chrNW_004936484:17,046,284...17,095,744 		JBrowse link
G D TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome OMIM
ClinVar		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chr 4:4,490,892...4,569,401
Ensembl chr 4:4,490,994...4,569,357 		JBrowse link
G B TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome OMIM
ClinVar		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613 		JBrowse link
G C Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome OMIM
ClinVar		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chrNW_004955492:4,502,705...4,573,126
Ensembl chrNW_004955492:4,502,897...4,558,697 		JBrowse link
G R Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chr17:55,983,627...56,031,578
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G M Tbce tubulin-specific chaperone E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chr13:14,172,532...14,214,235
Ensembl chr13:14,172,534...14,214,223 		JBrowse link
G H TBCE tubulin folding cofactor E IAGP
EXP		 ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Eefsec eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar PMID:25741868 PMID:39753114 NCBI chrNW_004624961:195,904...414,552
Ensembl chrNW_004624961:196,552...414,545 		JBrowse link
G G EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar PMID:25741868 PMID:39753114 NCBI chr22:52,633,932...52,887,812
Ensembl chr22:52,633,274...52,887,838 		JBrowse link
G P EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar PMID:25741868 PMID:39753114 NCBI chr13:72,041,409...72,196,345
Ensembl chr13:72,020,305...72,195,930 		JBrowse link
G S Eefsec eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar PMID:25741868 PMID:39753114 NCBI chrNW_004936798:448,114...512,234
Ensembl chrNW_004936798:448,105...512,256 		JBrowse link
G D EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar PMID:25741868 PMID:39753114 NCBI chr20:2,138,475...2,405,420
Ensembl chr20:2,155,822...2,405,418 		JBrowse link
G B EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar PMID:25741868 PMID:39753114 NCBI chr 3:125,199,895...125,456,133
Ensembl chr 3:132,564,877...132,819,647 		JBrowse link
G C Eefsec eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar PMID:25741868 PMID:39753114 NCBI chrNW_004955429:15,381,257...15,598,355
Ensembl chrNW_004955429:15,380,601...15,585,866 		JBrowse link
G R Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar PMID:25741868 PMID:39753114 NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779 		JBrowse link
G M Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar PMID:25741868 PMID:39753114 NCBI chr 6:88,234,318...88,423,489
Ensembl chr 6:88,234,316...88,423,521 		JBrowse link
G H EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific IAGP ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar PMID:25741868 PMID:39753114 NCBI chr 3:128,153,481...128,426,223
Ensembl chr 3:128,153,481...128,408,646 		JBrowse link
G H LOC112136095 Sharpr-MPRA regulatory region 5970 IAGP ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar NCBI chr11:93,784,103...93,784,558 JBrowse link
G H LOC130006596 ATAC-STARR-seq lymphoblastoid silent region 3840 IAGP ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition		 ClinVar PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:28492532 More... NCBI chr11:93,784,689...93,784,818 JBrowse link
G N Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chrNW_004624735:38,427,854...38,450,625
Ensembl chrNW_004624735:38,427,918...38,451,198 		JBrowse link
G G MED17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chr 1:85,031,407...85,060,562
Ensembl chr 1:85,031,716...85,059,285 		JBrowse link
G P MED17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chr 9:26,192,206...26,214,177
Ensembl chr 9:26,192,201...26,228,612 		JBrowse link
G S Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chrNW_004936674:998,036...1,019,937
Ensembl chrNW_004936674:997,259...1,019,953 		JBrowse link
G D MED17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chr21:6,967,304...6,990,542
Ensembl chr21:6,967,481...6,990,547 		JBrowse link
G B MED17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chr11:88,806,209...88,835,138
Ensembl chr11:92,292,947...92,321,913 		JBrowse link
G C Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chrNW_004955414:755,975...779,934
Ensembl chrNW_004955414:755,975...777,480 		JBrowse link
G R Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chr 8:20,382,995...20,401,993
Ensembl chr 8:12,101,594...12,120,592 		JBrowse link
G M Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chr 9:15,171,647...15,194,576
Ensembl chr 9:15,171,647...15,191,227 		JBrowse link
G H MED17 mediator complex subunit 17 IAGP ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition
ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy
ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy		 ClinVar
OMIM		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chr11:93,784,282...93,814,963
Ensembl chr11:93,784,227...93,814,963 		JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chrNW_004624804:8,510,628...8,541,007
Ensembl chrNW_004624804:8,510,739...8,540,306 		JBrowse link
G G NUSAP1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr26:41,624,507...41,667,568
Ensembl chr26:41,624,894...41,667,548 		JBrowse link
G P NUSAP1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr 1:129,992,797...130,065,641
Ensembl chr 1:129,992,804...130,065,605 		JBrowse link
G S Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chrNW_004936471:4,705,757...4,732,446
Ensembl chrNW_004936471:4,705,866...4,731,903 		JBrowse link
G D NUSAP1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr30:8,358,737...8,435,039
Ensembl chr30:8,396,399...8,434,179 		JBrowse link
G B NUSAP1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr15:20,273,953...20,322,512
Ensembl chr15:38,517,591...38,564,695 		JBrowse link
G C Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chrNW_004955416:8,178,493...8,208,336
Ensembl chrNW_004955416:8,178,826...8,207,747 		JBrowse link
G R Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr 3:127,057,220...127,092,779
Ensembl chr 3:106,603,289...106,633,624 		JBrowse link
G M Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr 2:119,449,205...119,480,646
Ensembl chr 2:119,448,779...119,481,725 		JBrowse link
G H NUSAP1 nucleolar and spindle associated protein 1 IAGP ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr15:41,332,881...41,381,046
Ensembl chr15:41,320,794...41,381,050 		JBrowse link
G N Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chrNW_004624832:4,462,675...4,467,676
Ensembl chrNW_004624832:4,462,766...4,467,616 		JBrowse link
G G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr 6:43,018,763...43,025,506
Ensembl chr 6:43,018,807...43,025,292 		JBrowse link
G P PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr 6:54,870,359...54,880,814
Ensembl chr 6:54,867,637...54,881,088 		JBrowse link
G S Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chrNW_004936664:3,649,020...3,656,545
Ensembl chrNW_004936664:3,649,833...3,656,035 		JBrowse link
G D PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr 1:106,695,649...106,707,229
Ensembl chr 1:106,694,589...106,702,150 		JBrowse link
G B PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762 		JBrowse link
G C Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chrNW_004955559:1,064,924...1,070,120 JBrowse link
G R Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr 1:104,476,801...104,483,409
Ensembl chr 1:95,341,620...95,346,920 		JBrowse link
G M Pnkp polynucleotide kinase 3'- phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416 		JBrowse link
G H PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay		 ClinVar
OMIM		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC126862785 MED14-independent group 3 enhancer GRCh37_chr18:67714790-67715989 IAGP ClinVar Annotator: match by term: RTTN-related condition ClinVar PMID:28492532 NCBI chr18:70,047,554...70,048,753 JBrowse link
G N Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chrNW_004624806:11,058,138...11,266,639
Ensembl chrNW_004624806:11,058,880...11,266,289 		JBrowse link
G G RTTN rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr18:9,574,647...9,770,940
Ensembl chr18:9,575,159...9,772,596 		JBrowse link
G P RTTN rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr 1:152,688,305...152,833,969
Ensembl chr 1:152,689,504...152,833,946 		JBrowse link
G S Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chrNW_004936964:1,369...71,142 JBrowse link
G D RTTN rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr 1:8,180,831...8,326,947
Ensembl chr 1:8,180,888...8,323,346 		JBrowse link
G B RTTN rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104 		JBrowse link
G C Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chrNW_004955402:53,600,985...53,753,218
Ensembl chrNW_004955402:53,600,985...53,753,459 		JBrowse link
G R Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333 		JBrowse link
G M Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr18:88,989,860...89,149,140
Ensembl chr18:88,989,914...89,149,140 		JBrowse link
G H RTTN rotatin IAGP ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Pign phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chrNW_004624792:7,713,042...7,916,177
Ensembl chrNW_004624792:7,712,113...7,916,160 		JBrowse link
G G PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chr18:17,589,582...17,725,823
Ensembl chr18:17,589,631...17,725,823 		JBrowse link
G P PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chr 1:159,317,734...159,417,335
Ensembl chr 1:159,317,734...159,417,327 		JBrowse link
G S Pign phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chrNW_004936497:3,121,184...3,230,912
Ensembl chrNW_004936497:3,124,557...3,234,061 		JBrowse link
G D PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chr 1:14,684,026...14,791,221
Ensembl chr 1:14,685,694...14,805,691 		JBrowse link
G B PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chr18:55,415,182...55,557,092
Ensembl chr18:58,733,740...58,875,183 		JBrowse link
G C Pign phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chrNW_004955402:45,979,577...46,114,634
Ensembl chrNW_004955402:45,983,826...46,114,752 		JBrowse link
G R Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790 		JBrowse link
G M Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chr 1:105,446,147...105,591,466
Ensembl chr 1:105,446,147...105,591,402 		JBrowse link
G H PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bcl2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G G BCL2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G P BCL2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G S Bcl2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921 		JBrowse link
G D BCL2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G B BCL2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G C Bcl2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485 		JBrowse link
G R Bcl2 BCL2, apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G M Bcl2 B cell leukemia/lymphoma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G H BCL2 BCL2 apoptosis regulator IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G B HMSD histocompatibility minor serpin domain containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:57,306,835...57,315,231 JBrowse link
G H HMSD histocompatibility minor serpin domain containing IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,949,301...63,969,648
Ensembl chr18:63,949,301...63,981,774 		JBrowse link
G N Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,038,076...9,081,650
Ensembl chrNW_004624792:9,040,999...9,082,154 		JBrowse link
G G KDSR 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:16,392,714...16,429,912
Ensembl chr18:16,392,756...16,434,035 		JBrowse link
G P KDSR 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:158,288,544...158,329,898
Ensembl chr 1:158,288,544...158,329,881 		JBrowse link
G S Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:2,169,982...2,199,600
Ensembl chrNW_004936497:2,169,712...2,203,150 		JBrowse link
G D KDSR 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,682,838...13,726,872
Ensembl chr 1:13,689,246...13,723,528 		JBrowse link
G B KDSR 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:56,686,914...56,727,681
Ensembl chr18:60,001,637...60,036,292 		JBrowse link
G C Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132 		JBrowse link
G R Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,374,101...23,408,779
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
G M Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:106,648,140...106,689,544
Ensembl chr 1:106,648,189...106,687,457 		JBrowse link
G H KDSR 3-ketodihydrosphingosine reductase IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G S LOC101971699 serpin B10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:1,782,142...1,797,968
Ensembl chrNW_004936497:1,782,116...1,800,307 		JBrowse link
G G LOC103244145 serpin B8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:15,766,510...15,787,350
Ensembl chr18:15,765,671...15,787,370 		JBrowse link
G G LOC103244151 serpin B6 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:15,799,445...15,844,430 JBrowse link
G P LOC110261636 serpin B3-like ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:158,073,431...158,079,267 JBrowse link
G H LOC130062624 ATAC-STARR-seq lymphoblastoid active region 13429 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,187,361...62,187,570 JBrowse link
G H LOC130062625 ATAC-STARR-seq lymphoblastoid silent region 9502 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,187,721...62,187,940 JBrowse link
G H LOC130062626 ATAC-STARR-seq lymphoblastoid silent region 9503 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,249,595...62,249,644 JBrowse link
G H LOC130062627 ATAC-STARR-seq lymphoblastoid silent region 9504 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,324,942...62,325,151 JBrowse link
G H LOC130062628 ATAC-STARR-seq lymphoblastoid silent region 9505 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,325,202...62,325,401 JBrowse link
G H LOC130062629 ATAC-STARR-seq lymphoblastoid silent region 9506 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,368,285...62,368,434 JBrowse link
G H LOC130062630 ATAC-STARR-seq lymphoblastoid active region 13430 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,418,385...62,418,434 JBrowse link
G H LOC130062631 ATAC-STARR-seq lymphoblastoid silent region 9507 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,420,709...62,420,758 JBrowse link
G H LOC132090496 Neanderthal introgressed variant-containing enhancer experimental_48670 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:24253414 PMID:25640679 PMID:27038415 PMID:28492532 NCBI chr18:62,096,279...62,096,448 JBrowse link
G H LOC132090497 Neanderthal introgressed variant-containing enhancer experimental_48690 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:24253414 PMID:27038415 PMID:28492532 PMID:35179230 NCBI chr18:62,105,608...62,105,777 JBrowse link
G H LOC132090498 Neanderthal introgressed variant-containing enhancer experimental_48738 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1		 ClinVar PMID:16199547 PMID:24253414 PMID:27038415 PMID:28492532 NCBI chr18:62,114,637...62,114,806 JBrowse link
G H LOC132090499 Neanderthal introgressed variant-containing enhancer experimental_48746 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,117,761...62,117,930 JBrowse link
G H LOC132090500 Neanderthal introgressed variant-containing enhancer experimental_48887 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,227,446...62,227,615 JBrowse link
G H LOC132090501 Neanderthal introgressed variant-containing enhancer experimental_48897 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,250,610...62,250,779 JBrowse link
G H LOC132090899 Neanderthal introgressed variant-containing enhancer experimental_48726/48728 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,110,934...62,111,103 JBrowse link
G D LOC483954 serpin B4 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,471,412...13,472,089 JBrowse link
G N Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:8,448,245...8,680,845
Ensembl chrNW_004624792:8,448,013...8,681,053 		JBrowse link
G G PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:16,786,128...17,051,250 JBrowse link
G P PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:158,642,810...158,863,643
Ensembl chr 1:158,642,818...158,862,106 		JBrowse link
G S Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:2,467,776...2,683,794
Ensembl chrNW_004936497:2,467,684...2,683,799 		JBrowse link
G D PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:14,027,741...14,234,229
Ensembl chr 1:14,028,652...14,234,229 		JBrowse link
G B PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:56,084,851...56,338,551 JBrowse link
G C Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:46,563,918...46,773,349
Ensembl chrNW_004955402:46,666,599...46,772,387 		JBrowse link
G R Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,823,132...23,045,619
Ensembl chr13:22,308,548...22,530,977 		JBrowse link
G M Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:106,099,599...106,321,975
Ensembl chr 1:106,099,482...106,321,980 		JBrowse link
G H PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:62,715,541...62,980,433
Ensembl chr18:62,715,541...62,980,433 		JBrowse link
G N Pign phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624792:7,713,042...7,916,177
Ensembl chrNW_004624792:7,712,113...7,916,160 		JBrowse link
G G PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr18:17,589,582...17,725,823
Ensembl chr18:17,589,631...17,725,823 		JBrowse link
G P PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr 1:159,317,734...159,417,335
Ensembl chr 1:159,317,734...159,417,327 		JBrowse link
G S Pign phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936497:3,121,184...3,230,912
Ensembl chrNW_004936497:3,124,557...3,234,061 		JBrowse link
G D PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr 1:14,684,026...14,791,221
Ensembl chr 1:14,685,694...14,805,691 		JBrowse link
G B PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr18:55,415,182...55,557,092
Ensembl chr18:58,733,740...58,875,183 		JBrowse link
G C Pign phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955402:45,979,577...46,114,634
Ensembl chrNW_004955402:45,983,826...46,114,752 		JBrowse link
G R Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790 		JBrowse link
G M Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr 1:105,446,147...105,591,466
Ensembl chr 1:105,446,147...105,591,402 		JBrowse link
G H PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1		 ClinVar
OMIM		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G N Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:7,916,354...8,012,976
Ensembl chrNW_004624792:7,916,395...8,014,167 		JBrowse link
G G RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:17,467,242...17,589,433
Ensembl chr18:17,466,750...17,589,413 		JBrowse link
G P RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:159,207,951...159,317,675
Ensembl chr 1:159,207,616...159,317,675 		JBrowse link
G S Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:3,021,962...3,121,028
Ensembl chrNW_004936497:3,021,875...3,121,013 		JBrowse link
G D RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:14,573,377...14,683,795
Ensembl chr 1:14,579,381...14,683,555 		JBrowse link
G B RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:55,557,276...55,677,161
Ensembl chr18:58,875,013...58,995,036 		JBrowse link
G C Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:46,114,835...46,226,330
Ensembl chrNW_004955402:46,115,066...46,224,752 		JBrowse link
G R Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807 		JBrowse link
G M Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:105,591,570...105,682,856
Ensembl chr 1:105,591,586...105,682,916 		JBrowse link
G H RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:62,187,255...62,310,249
Ensembl chr18:62,187,255...62,310,249 		JBrowse link
G G SERPINB10 serpin family B member 10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:15,878,552...15,903,891
Ensembl chr18:15,878,191...15,894,609 		JBrowse link
G P SERPINB10 serpin family B member 10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:157,841,487...157,866,913
Ensembl chr 1:157,841,510...157,866,913 		JBrowse link
G D SERPINB10 serpin family B member 10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,233,715...13,256,289
Ensembl chr 1:13,234,402...13,256,238 		JBrowse link
G B SERPINB10 serpin family B member 10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:57,262,514...57,289,744
Ensembl chr18:60,573,580...60,599,697 		JBrowse link
G R Serpinb10 serpin family B member 10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:24,067,971...24,085,814
Ensembl chr13:23,553,430...23,571,182 		JBrowse link
G M Serpinb10 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:107,456,724...107,488,469
Ensembl chr 1:107,456,757...107,477,001 		JBrowse link
G H SERPINB10 serpin family B member 10 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,907,958...63,936,111
Ensembl chr18:63,907,958...63,936,111 		JBrowse link
G N Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,679,310...9,712,474
Ensembl chrNW_004624792:9,679,211...9,712,970 		JBrowse link
G G SERPINB11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:16,075,310...16,096,437
Ensembl chr18:16,075,796...16,088,987 		JBrowse link
G P SERPINB11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:158,015,714...158,030,833
Ensembl chr 1:158,015,718...158,030,763 		JBrowse link
G S Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:1,931,500...1,950,256
Ensembl chrNW_004936497:1,930,201...1,950,494 		JBrowse link
G D SERPINB11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,395,127...13,486,974
Ensembl chr 1:13,410,079...13,487,008 		JBrowse link
G B SERPINB11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:57,061,477...57,083,031
Ensembl chr18:60,373,142...60,394,132 		JBrowse link
G C Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:47,564,631...47,585,486
Ensembl chrNW_004955402:47,564,492...47,585,054 		JBrowse link
G R Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,819,416...23,859,240
Ensembl chr13:23,304,456...23,344,604 		JBrowse link
G M Serpinb11 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:107,290,044...107,308,205
Ensembl chr 1:107,288,928...107,308,205 		JBrowse link
G H SERPINB11 serpin family B member 11 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,702,304...63,723,893
Ensembl chr18:63,647,579...63,726,432 		JBrowse link
G N Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,326,061...9,344,870
Ensembl chrNW_004624792:9,326,066...9,343,959 		JBrowse link
G G SERPINB12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:16,193,673...16,208,866
Ensembl chr18:16,194,694...16,206,029 		JBrowse link
G P SERPINB12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:158,120,724...158,143,085
Ensembl chr 1:158,120,868...158,143,128 		JBrowse link
G S Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:2,014,871...2,024,575 JBrowse link
G D SERPINB12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,516,993...13,539,834
Ensembl chr 1:13,518,850...13,539,956 		JBrowse link
G B SERPINB12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:56,915,588...56,926,603
Ensembl chr18:60,190,661...60,240,704 		JBrowse link
G C Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:47,338,874...47,361,485
Ensembl chrNW_004955402:47,342,151...47,360,030 		JBrowse link
G R Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,567,023...23,598,329
Ensembl chr13:23,052,448...23,083,691 		JBrowse link
G M Serpinb12 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:106,862,179...106,884,810
Ensembl chr 1:106,862,179...106,884,810 		JBrowse link
G H SERPINB12 serpin family B member 12 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,519,110...63,569,329
Ensembl chr18:63,542,369...63,569,329 		JBrowse link
G N Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,388,994...9,406,618
Ensembl chrNW_004624792:9,391,297...9,406,424 		JBrowse link
G G SERPINB13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:16,163,247...16,175,953
Ensembl chr18:16,165,054...16,173,438 		JBrowse link
G P SERPINB13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:158,099,811...158,113,526
Ensembl chr 1:158,099,975...158,113,501 		JBrowse link
G D SERPINB13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,492,998...13,505,716
Ensembl chr 1:13,493,301...13,505,001 		JBrowse link
G B SERPINB13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:56,946,828...56,958,702
Ensembl chr18:60,258,085...60,270,607 		JBrowse link
G C Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:47,376,973...47,395,267 JBrowse link
G R Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,633,220...23,665,100
Ensembl chr13:23,118,584...23,150,760 		JBrowse link
G M Serpinb13 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:106,908,714...106,928,925
Ensembl chr 1:106,908,714...106,928,925 		JBrowse link
G H SERPINB13 serpin family B member 13 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,587,343...63,599,192
Ensembl chr18:63,586,989...63,604,639 		JBrowse link
G G SERPINB2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:15,906,461...15,922,636
Ensembl chr18:15,906,469...15,922,594 		JBrowse link
G P SERPINB2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:157,871,919...157,886,525
Ensembl chr 1:157,872,212...157,886,602 		JBrowse link
G S Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:1,805,957...1,814,911
Ensembl chrNW_004936497:1,805,957...1,814,911 		JBrowse link
G D SERPINB2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,260,288...13,276,727
Ensembl chr 1:13,260,387...13,272,980 		JBrowse link
G B SERPINB2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:57,242,498...57,258,676
Ensembl chr18:60,553,323...60,569,594 		JBrowse link
G C Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:47,707,182...47,720,688
Ensembl chrNW_004955402:47,711,215...47,720,755 		JBrowse link
G R Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:24,051,933...24,065,032
Ensembl chr13:23,541,400...23,550,408 		JBrowse link
G M Serpinb2 serine (or cysteine) peptidase inhibitor, clade B, member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:107,439,153...107,453,330
Ensembl chr 1:107,439,153...107,463,208 		JBrowse link
G H SERPINB2 serpin family B member 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,887,705...63,903,888
Ensembl chr18:63,871,692...63,903,888 		JBrowse link
G R Serpinb3 serpin family B member 3 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,788,758...23,795,298
Ensembl chr13:23,274,484...23,313,682 		JBrowse link
G H SERPINB3 serpin family B member 3 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,655,197...63,661,893
Ensembl chr18:63,655,197...63,661,893 		JBrowse link
G R Serpinb3a serpin family B member 3A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,755,690...23,766,188
Ensembl chr13:23,236,972...23,246,985 		JBrowse link
G M Serpinb3a serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:106,973,317...106,980,033
Ensembl chr 1:106,973,317...106,980,033 		JBrowse link
G M Serpinb3d serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:107,005,893...107,011,210
Ensembl chr 1:107,005,897...107,011,236 		JBrowse link
G B SERPINB4 serpin family B member 4 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:56,996,437...57,003,489 JBrowse link
G H SERPINB4 serpin family B member 4 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,637,259...63,644,256
Ensembl chr18:63,637,259...63,644,256 		JBrowse link
G N Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,196,932...9,220,147
Ensembl chrNW_004624792:9,198,657...9,221,264 		JBrowse link
G G SERPINB5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:16,256,700...16,284,410
Ensembl chr18:16,256,552...16,283,764 		JBrowse link
G P SERPINB5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:158,167,756...158,195,896
Ensembl chr 1:158,167,646...158,195,796 		JBrowse link
G S Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:2,067,796...2,089,965
Ensembl chrNW_004936497:2,069,035...2,089,745 		JBrowse link
G D SERPINB5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,566,982...13,638,839
Ensembl chr 1:13,568,376...13,638,781 		JBrowse link
G B SERPINB5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:56,836,403...56,864,533
Ensembl chr18:60,148,552...60,176,624 		JBrowse link
G C Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:47,248,665...47,276,017
Ensembl chrNW_004955402:47,248,932...47,276,834 		JBrowse link
G R Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,500,203...23,520,401
Ensembl chr13:22,985,557...23,005,756 		JBrowse link
G M Serpinb5 serine (or cysteine) peptidase inhibitor, clade B, member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:106,788,905...106,811,078
Ensembl chr 1:106,788,903...106,811,078 		JBrowse link
G H SERPINB5 serpin family B member 5 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,476,958...63,505,085
Ensembl chr18:63,476,958...63,505,085 		JBrowse link
G N Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,730,223...9,794,673 JBrowse link
G G SERPINB7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:15,992,154...16,020,001
Ensembl chr18:15,992,186...16,044,650 		JBrowse link
G P SERPINB7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:157,953,872...157,999,242
Ensembl chr 1:157,953,877...157,998,842 		JBrowse link
G S Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:1,865,540...1,887,695
Ensembl chrNW_004936497:1,866,166...1,887,690 		JBrowse link
G D SERPINB7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,336,067...13,392,674
Ensembl chr 1:13,336,837...13,358,125 		JBrowse link
G B SERPINB7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165 		JBrowse link
G C Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:47,599,503...47,649,537
Ensembl chrNW_004955402:47,599,150...47,649,885 		JBrowse link
G R Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205 		JBrowse link
G M Serpinb7 serine (or cysteine) peptidase inhibitor, clade B, member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:107,350,418...107,380,419
Ensembl chr 1:107,327,385...107,380,419 		JBrowse link
G H SERPINB7 serpin family B member 7 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,753,057...63,805,370
Ensembl chr18:63,752,935...63,805,376 		JBrowse link
G P SERPINB8 serpin family B member 8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:157,820,641...157,836,922
Ensembl chr 1:157,820,657...157,836,904 		JBrowse link
G D SERPINB8 serpin family B member 8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,213,506...13,223,489
Ensembl chr 1:13,200,602...13,222,943 		JBrowse link
G B SERPINB8 serpin family B member 8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:57,313,562...57,373,502
Ensembl chr18:60,634,206...60,669,118 		JBrowse link
G C Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:47,761,900...47,781,281
Ensembl chrNW_004955402:47,763,322...47,781,523 		JBrowse link
G R Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:24,141,557...24,164,894
Ensembl chr13:23,626,945...23,650,835 		JBrowse link
G M Serpinb8 serine (or cysteine) peptidase inhibitor, clade B, member 8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:107,517,668...107,536,708
Ensembl chr 1:107,517,736...107,538,214 		JBrowse link
G H SERPINB8 serpin family B member 8 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,970,081...64,019,779
Ensembl chr18:63,970,029...64,019,779 		JBrowse link
G N Tnfrsf11a TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424 		JBrowse link
G G TNFRSF11A TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:17,385,251...17,446,442 JBrowse link
G P TNFRSF11A TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481 		JBrowse link
G S Tnfrsf11a TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:2,944,841...2,986,113
Ensembl chrNW_004936497:2,945,010...2,995,207 		JBrowse link
G D TNFRSF11A TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:14,504,595...14,555,956
Ensembl chr 1:14,503,033...14,556,041 		JBrowse link
G B TNFRSF11A TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044 		JBrowse link
G C Tnfrsf11a TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:46,242,329...46,298,157
Ensembl chrNW_004955402:46,264,164...46,296,368 		JBrowse link
G R Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,442,930...22,501,257
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G M Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709 		JBrowse link
G H TNFRSF11A TNF receptor superfamily member 11a IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288 		JBrowse link
G N Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,098,291...9,128,931 JBrowse link
G G VPS4B vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:16,336,959...16,370,208
Ensembl chr18:16,336,921...16,370,291 		JBrowse link
G P VPS4B vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:158,233,039...158,273,533
Ensembl chr 1:158,233,070...158,270,679 		JBrowse link
G S Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:2,126,064...2,161,451
Ensembl chrNW_004936497:2,126,061...2,161,485 		JBrowse link
G D VPS4B vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:13,638,965...13,673,295
Ensembl chr 1:13,639,004...13,669,072 		JBrowse link
G B VPS4B vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:56,749,439...56,782,660
Ensembl chr18:60,060,285...60,095,109 		JBrowse link
G C Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:47,154,350...47,183,979
Ensembl chrNW_004955402:47,154,007...47,184,021 		JBrowse link
G R Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,421,758...23,446,848
Ensembl chr13:22,907,109...22,932,229 		JBrowse link
G M Vps4b vacuolar protein sorting 4B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:106,698,518...106,724,455
Ensembl chr 1:106,691,801...106,724,458 		JBrowse link
G H VPS4B vacuolar protein sorting 4 homolog B IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,389,190...63,422,476
Ensembl chr18:63,389,190...63,422,483 		JBrowse link
G N Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:8,239,931...8,298,508 JBrowse link
G G ZCCHC2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:17,186,456...17,244,639
Ensembl chr18:17,177,964...17,244,574 		JBrowse link
G P ZCCHC2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:158,964,816...159,022,143
Ensembl chr 1:158,964,819...159,022,271 		JBrowse link
G S Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004936497:2,785,508...2,844,181
Ensembl chrNW_004936497:2,787,525...2,844,187 		JBrowse link
G D ZCCHC2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:14,335,727...14,393,157
Ensembl chr 1:14,337,065...14,393,158 		JBrowse link
G B ZCCHC2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:55,893,099...55,948,648
Ensembl chr18:59,209,993...59,265,634 		JBrowse link
G C Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004955402:46,426,432...46,466,064
Ensembl chrNW_004955402:46,426,432...46,464,063 		JBrowse link
G R Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373 		JBrowse link
G M Zcchc2 zinc finger, CCHC domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr 1:105,916,929...105,961,807
Ensembl chr 1:105,918,136...105,961,804 		JBrowse link
G H ZCCHC2 zinc finger CCHC-type containing 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:62,523,025...62,586,729
Ensembl chr18:62,523,025...62,587,709 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:344,823...391,451
Ensembl chrNW_004624829:344,933...391,527 		JBrowse link
G G ACE2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,032,231...14,094,163
Ensembl chr  X:14,030,233...14,077,785 		JBrowse link
G P ACE2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,093,242...12,151,286 		JBrowse link
G S Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:4,964,526...5,011,808
Ensembl chrNW_004936470:4,965,332...5,011,702 		JBrowse link
G D ACE2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,798,839...11,839,591
Ensembl chr  X:11,798,839...11,900,594 		JBrowse link
G B ACE2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,189,267...8,229,415
Ensembl chr  X:15,470,896...15,510,891 		JBrowse link
G C Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495 		JBrowse link
G R Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,925,458...33,972,851
Ensembl chr  X:30,293,589...30,340,977 		JBrowse link
G M Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:162,922,338...162,971,414
Ensembl chr  X:162,922,328...162,971,416 		JBrowse link
G H ACE2 angiotensin converting enzyme 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G N Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:608,065...637,096
Ensembl chrNW_004624829:608,065...634,479 		JBrowse link
G G AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,283,175...14,310,453 JBrowse link
G P AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,367,785...12,397,672
Ensembl chr  X:12,367,795...12,397,677 		JBrowse link
G S Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:5,260,984...5,301,552
Ensembl chrNW_004936470:5,257,542...5,289,469 		JBrowse link
G D AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,075,797...12,105,911
Ensembl chr  X:12,076,724...12,103,654 		JBrowse link
G B AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,449,885...8,478,932
Ensembl chr  X:15,807,476...15,836,172 		JBrowse link
G C Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:2,351,754...2,370,650 JBrowse link
G R Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:34,204,601...34,230,819
Ensembl chr  X:30,572,751...30,597,262 		JBrowse link
G M Ap1s2 adaptor-related protein complex 1, sigma 2 subunit ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:162,691,427...162,716,662
Ensembl chr  X:162,692,013...162,716,662 		JBrowse link
G H AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G N Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:104,065...122,955
Ensembl chrNW_004624829:103,969...123,033 		JBrowse link
G G ASB11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:13,752,138...13,784,368
Ensembl chr  X:13,749,385...13,783,846 		JBrowse link
G P ASB11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,842,855...11,871,040
Ensembl chr  X:11,842,855...11,868,793 		JBrowse link
G S Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:4,701,670...4,728,527
Ensembl chrNW_004936470:4,701,681...4,728,555 		JBrowse link
G D ASB11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,542,466...11,567,633
Ensembl chr  X:11,542,466...11,582,983 		JBrowse link
G B ASB11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:7,909,843...7,942,277
Ensembl chr  X:15,192,234...15,225,022 		JBrowse link
G C Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:2,875,287...2,896,122
Ensembl chrNW_004955519:2,875,212...2,896,191 		JBrowse link
G R Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,646,389...33,669,790
Ensembl chr  X:29,992,416...30,037,807 		JBrowse link
G M Asb11 ankyrin repeat and SOCS box-containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:163,219,976...163,242,166
Ensembl chr  X:163,219,990...163,242,166 		JBrowse link
G H ASB11 ankyrin repeat and SOCS box containing 11 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,281,697...15,315,640
Ensembl chr  X:15,281,697...15,315,640 		JBrowse link
G N Asb9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:63,524...86,042
Ensembl chrNW_004624829:63,605...78,016 		JBrowse link
G G ASB9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:13,708,256...13,738,740
Ensembl chr  X:13,708,259...13,737,790 		JBrowse link
G P ASB9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,800,546...11,828,251
Ensembl chr  X:11,799,636...11,828,000 		JBrowse link
G S Asb9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:4,660,417...4,692,175
Ensembl chrNW_004936470:4,660,443...4,692,173 		JBrowse link
G D ASB9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,505,941...11,533,335
Ensembl chr  X:11,505,941...11,533,135 		JBrowse link
G B ASB9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:7,869,174...7,896,783
Ensembl chr  X:15,152,698...15,179,182 		JBrowse link
G C Asb9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:2,902,802...2,941,358
Ensembl chrNW_004955519:2,902,802...2,941,433 		JBrowse link
G R Asb9 ankyrin repeat and SOCS box-containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,588,484...33,633,285
Ensembl chr  X:29,956,576...30,001,105 		JBrowse link
G M Asb9 ankyrin repeat and SOCS box-containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:163,280,899...163,322,748
Ensembl chr  X:163,289,323...163,322,748 		JBrowse link
G H ASB9 ankyrin repeat and SOCS box containing 9 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,243,987...15,270,467
Ensembl chr  X:15,235,288...15,270,467 		JBrowse link
G N Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:297,187...344,555
Ensembl chrNW_004624829:297,351...344,164 		JBrowse link
G G BMX BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:13,973,078...14,028,492
Ensembl chr  X:13,981,472...14,028,122 		JBrowse link
G P BMX BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,044,110...12,096,042
Ensembl chr  X:12,044,386...12,096,039 		JBrowse link
G S Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:4,914,643...4,962,134
Ensembl chrNW_004936470:4,914,756...4,962,129 		JBrowse link
G D BMX BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,742,805...11,795,437
Ensembl chr  X:11,738,365...11,795,436 		JBrowse link
G B BMX BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,129,158...8,184,910
Ensembl chr  X:15,410,655...15,466,415 		JBrowse link
G C Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:2,638,081...2,689,601
Ensembl chrNW_004955519:2,638,081...2,689,650 		JBrowse link
G R Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,859,128...33,921,876
Ensembl chr  X:30,227,251...30,289,993 		JBrowse link
G M Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:162,975,838...163,041,189
Ensembl chr  X:162,975,838...163,041,189 		JBrowse link
G H BMX BMX non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,500,807...15,556,519
Ensembl chr  X:15,464,246...15,556,529 		JBrowse link
G N Ca5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:455,731...572,603
Ensembl chrNW_004624829:457,244...571,168 		JBrowse link
G G CA5B carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,197,561...14,240,294
Ensembl chr  X:14,197,651...14,243,626 		JBrowse link
G P CA5B carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,295,393...12,332,283
Ensembl chr  X:12,224,159...12,365,025 		JBrowse link
G S Ca5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:5,184,489...5,227,855
Ensembl chrNW_004936470:5,184,483...5,230,214 		JBrowse link
G D CA5B carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,908,426...12,042,327
Ensembl chr  X:11,930,884...12,040,221 		JBrowse link
G B CA5B carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,325,881...8,410,506
Ensembl chr  X:15,658,816...15,764,323
Ensembl chr  X:15,658,816...15,764,323 		JBrowse link
G C Ca5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:2,415,722...2,455,052
Ensembl chrNW_004955519:2,412,289...2,455,280 		JBrowse link
G H CA5B carbonic anhydrase 5B IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,738,270...15,788,411
Ensembl chr  X:15,688,830...15,788,411 		JBrowse link
G R Car5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:30,474,697...30,534,797
Ensembl chr  X:30,474,784...30,533,837 		JBrowse link
G M Car5b carbonic anhydrase 5b, mitochondrial ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:162,759,818...162,811,006
Ensembl chr  X:162,759,818...162,810,993 		JBrowse link
G N Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:412,797...447,076
Ensembl chrNW_004624829:412,532...446,938 		JBrowse link
G G CLTRN collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,103,046...14,154,936
Ensembl chr  X:14,102,497...14,154,123 		JBrowse link
G P CLTRN collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,183,793...12,215,474
Ensembl chr  X:12,183,796...12,224,964 		JBrowse link
G S Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:5,040,831...5,124,611
Ensembl chrNW_004936470:5,040,795...5,124,192 		JBrowse link
G D CLTRN collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,863,479...11,908,361
Ensembl chr  X:11,798,839...11,900,594 		JBrowse link
G B CLTRN collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,255,666...8,293,354
Ensembl chr  X:15,535,069...15,575,268 		JBrowse link
G C Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:2,522,154...2,569,722
Ensembl chrNW_004955519:2,522,155...2,570,972 		JBrowse link
G R Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,993,825...34,027,124
Ensembl chr  X:30,361,967...30,395,349 		JBrowse link
G M Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:162,873,183...162,901,855
Ensembl chr  X:162,871,826...162,901,856 		JBrowse link
G H CLTRN collectrin, amino acid transport regulator IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012 		JBrowse link
G N Fancb FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624944:358,836...383,161
Ensembl chrNW_004624944:364,563...383,098 		JBrowse link
G G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:13,321,304...13,352,368
Ensembl chr  X:13,321,527...13,342,478 		JBrowse link
G P FANCB FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
G S Fancb FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:4,305,220...4,323,456
Ensembl chrNW_004936470:4,305,740...4,323,374 		JBrowse link
G D FANCB FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029 		JBrowse link
G B FANCB FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:7,470,574...7,500,958
Ensembl chr  X:14,752,934...14,781,817 		JBrowse link
G C Fancb FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814 		JBrowse link
G R Fancb FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G M Fancb Fanconi anemia, complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G H FANCB FA complementation group B IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G H INE2 inactivation escape 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,785,716...15,787,589
Ensembl chr  X:15,785,716...15,787,589 		JBrowse link
G N Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624944:314,787...358,570
Ensembl chrNW_004624944:314,638...359,085 		JBrowse link
G G MOSPD2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:13,350,639...13,399,157
Ensembl chr  X:13,350,639...13,399,311 		JBrowse link
G P MOSPD2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,409,157...11,473,969
Ensembl chr  X:11,409,107...11,473,964 		JBrowse link
G S Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:4,330,400...4,373,790
Ensembl chrNW_004936470:4,330,323...4,374,755 		JBrowse link
G D MOSPD2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,147,782...11,200,838
Ensembl chr  X:11,147,958...11,200,117 		JBrowse link
G B MOSPD2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:7,501,222...7,549,523
Ensembl chr  X:14,785,436...14,828,978 		JBrowse link
G C Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:3,290,137...3,336,817
Ensembl chrNW_004955519:3,286,847...3,337,286 		JBrowse link
G R Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,052,063...33,105,550
Ensembl chr  X:29,420,586...29,462,398 		JBrowse link
G M Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:163,719,165...163,763,501
Ensembl chr  X:163,719,165...163,763,371 		JBrowse link
G H MOSPD2 motile sperm domain containing 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,873,421...14,922,327
Ensembl chr  X:14,873,421...14,922,327 		JBrowse link
G N Piga phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chrNW_004624829:128,161...143,378
Ensembl chrNW_004624829:128,586...142,150 		JBrowse link
G G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:13,787,658...13,803,575
Ensembl chr  X:13,787,646...13,803,405 		JBrowse link
G P PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:11,871,746...11,886,519
Ensembl chr  X:11,871,750...11,886,438 		JBrowse link
G S Piga phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chrNW_004936470:4,730,955...4,746,958
Ensembl chrNW_004936470:4,730,961...4,746,985 		JBrowse link
G D PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:11,570,327...11,583,401 JBrowse link
G B PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:7,946,158...7,962,320
Ensembl chr  X:15,228,881...15,244,949 		JBrowse link
G C Piga phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chrNW_004955519:2,852,605...2,865,848
Ensembl chrNW_004955519:2,852,555...2,867,600 		JBrowse link
G R Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:33,672,832...33,687,747
Ensembl chr  X:30,042,343...30,055,804 		JBrowse link
G M Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:163,202,814...163,216,912
Ensembl chr  X:163,202,783...163,216,912 		JBrowse link
G H PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2		 ClinVar
OMIM		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G N Pir pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:181,918...286,348
Ensembl chrNW_004624829:180,129...286,429 		JBrowse link
G G PIR pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:13,854,356...13,966,554
Ensembl chr  X:13,854,236...13,966,506 		JBrowse link
G P PIR pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,934,157...12,034,629
Ensembl chr  X:11,934,163...12,033,746 		JBrowse link
G S Pir pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:4,794,803...4,902,211
Ensembl chrNW_004936470:4,793,823...4,902,471 		JBrowse link
G D PIR pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,627,337...11,733,489
Ensembl chr  X:11,627,337...11,733,489 		JBrowse link
G B PIR pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,011,382...8,121,994
Ensembl chr  X:15,294,099...15,404,004 		JBrowse link
G C Pir pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:2,698,207...2,813,201
Ensembl chrNW_004955519:2,698,172...2,813,206 		JBrowse link
G R Pir pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,740,428...33,851,049
Ensembl chr  X:30,108,538...30,219,218 		JBrowse link
G M Pir pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:163,052,427...163,156,009
Ensembl chr  X:163,052,367...163,156,007 		JBrowse link
G H PIR pirin IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,384,799...15,493,333
Ensembl chr  X:15,384,799...15,493,564 		JBrowse link
G N Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:148,371...181,742
Ensembl chrNW_004624829:148,317...181,098 		JBrowse link
G G VEGFD vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:13,813,472...13,854,253
Ensembl chr  X:13,813,403...13,854,057 		JBrowse link
G P VEGFD vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,893,254...11,933,923
Ensembl chr  X:11,893,259...11,933,809 		JBrowse link
G S Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:4,761,827...4,794,751
Ensembl chrNW_004936470:4,762,332...4,793,938 		JBrowse link
G D VEGFD vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,590,097...11,627,199
Ensembl chr  X:11,590,089...11,626,486 		JBrowse link
G B VEGFD vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:7,972,227...8,011,263
Ensembl chr  X:15,254,945...15,293,704 		JBrowse link
G C Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:2,813,475...2,845,856
Ensembl chrNW_004955519:2,813,438...2,845,915 		JBrowse link
G R Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,704,582...33,740,305
Ensembl chr  X:30,074,163...30,108,295 		JBrowse link
G M Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:163,156,282...163,185,643
Ensembl chr  X:163,156,374...163,185,646 		JBrowse link
G H VEGFD vascular endothelial growth factor D IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,345,596...15,384,413
Ensembl chr  X:15,345,596...15,384,413 		JBrowse link
G N Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:578,380...605,119
Ensembl chrNW_004624829:578,326...604,594 		JBrowse link
G G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,247,231...14,279,466
Ensembl chr  X:14,247,287...14,279,448 		JBrowse link
G P ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,336,635...12,365,071
Ensembl chr  X:12,336,677...12,367,227 		JBrowse link
G S Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004936470:5,233,798...5,258,266
Ensembl chrNW_004936470:5,233,740...5,258,266 		JBrowse link
G D ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,046,163...12,073,617
Ensembl chr  X:12,046,921...12,073,440 		JBrowse link
G B ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,413,483...8,447,340
Ensembl chr  X:15,772,064...15,804,913 		JBrowse link
G C Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004955519:2,377,955...2,402,446
Ensembl chrNW_004955519:2,378,246...2,394,561 		JBrowse link
G R Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:34,179,279...34,201,989
Ensembl chr  X:30,547,536...30,570,125 		JBrowse link
G M Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:162,719,268...162,741,662
Ensembl chr  X:162,718,439...162,741,657 		JBrowse link
G H ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,156...15,830,694 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H MIR6812 microRNA 6812 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 ClinVar PMID:28492532 NCBI chr20:45,425,510...45,425,573
Ensembl chr20:45,425,510...45,425,573 		JBrowse link
G N Pigt phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chrNW_004624790:9,075,733...9,084,961
Ensembl chrNW_004624790:9,075,773...9,084,959 		JBrowse link
G G PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr 2:18,408,789...18,419,186
Ensembl chr 2:18,408,758...18,419,103 		JBrowse link
G P PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr17:47,735,339...47,750,052
Ensembl chr17:47,735,088...47,750,195 		JBrowse link
G S Pigt phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199 		JBrowse link
G D PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168 		JBrowse link
G B PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr20:41,749,034...41,759,131
Ensembl chr20:42,838,789...42,870,907 		JBrowse link
G C Pigt phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chrNW_004955445:11,916,898...11,925,578
Ensembl chrNW_004955445:11,915,225...11,925,820 		JBrowse link
G R Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:153,227,420...153,236,887 		JBrowse link
G M Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221 		JBrowse link
G H PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7		 ClinVar
OMIM		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624913:1,380,178...1,397,399
Ensembl chrNW_004624913:1,383,624...1,397,396 		JBrowse link
G G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 5:492,997...505,084
Ensembl chr 5:496,568...505,997 		JBrowse link
G P PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 3:41,164,399...41,177,453
Ensembl chr 3:41,160,657...41,176,318 		JBrowse link
G S Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936501:415,232...429,902
Ensembl chrNW_004936501:414,905...429,600 		JBrowse link
G D PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 6:39,971,069...39,980,128
Ensembl chr 6:39,971,057...39,981,039 		JBrowse link
G B PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... Ensembl chr16:585,901...600,482 JBrowse link
G C Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955442:16,620,009...16,635,308
Ensembl chrNW_004955442:16,620,009...16,631,343 		JBrowse link
G R Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr10:15,447,080...15,463,088
Ensembl chr10:14,942,577...14,958,584 		JBrowse link
G M Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr17:26,145,398...26,161,855
Ensembl chr17:26,145,395...26,163,910 		JBrowse link
G H PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: PIGQ-related condition		 OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
myoclonic-atonic epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G ARPC4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,799,225...45,814,343
Ensembl chr22:45,799,645...45,814,870 		JBrowse link
G P ARPC4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,075,926...66,093,986
Ensembl chr13:66,056,890...66,123,977 		JBrowse link
G D ARPC4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,441,994...8,453,131
Ensembl chr20:8,442,788...8,453,057 		JBrowse link
G B ARPC4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,744,055...9,758,627
Ensembl chr 3:9,981,934...9,996,250 		JBrowse link
G C Arpc4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,314,299...1,327,300
Ensembl chrNW_004955561:1,314,299...1,327,300 		JBrowse link
G R Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,077,799...148,088,427
Ensembl chr 4:146,522,176...146,532,785 		JBrowse link
G M Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,355,074...113,367,408
Ensembl chr 6:113,355,076...113,367,409 		JBrowse link
G H ARPC4 actin related protein 2/3 complex subunit 4 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G H ARPC4-TTLL3 ARPC4-TTLL3 readthrough IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,792,548...9,836,356
Ensembl chr 3:9,793,082...9,835,401 		JBrowse link
G N Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004624907:715,109...736,040
Ensembl chrNW_004624907:715,094...736,432 		JBrowse link
G G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 6:36,166,586...36,195,343
Ensembl chr 6:36,166,262...36,195,363 		JBrowse link
G P ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633 		JBrowse link
G S Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525 		JBrowse link
G D ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G B ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716 		JBrowse link
G C Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542 		JBrowse link
G R Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G M Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
G H ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G N Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996 		JBrowse link
G G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220 		JBrowse link
G P ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128 		JBrowse link
G S Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:2,744,757...3,011,051
Ensembl chrNW_004936602:2,744,759...3,007,940 		JBrowse link
G D ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474 		JBrowse link
G B ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006 		JBrowse link
G C Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,727,935...1,851,907
Ensembl chrNW_004955561:1,727,935...1,851,907 		JBrowse link
G R Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:146,896,332...147,140,665 		JBrowse link
G M Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		JBrowse link
G H ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G N Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,679,060...4,685,892
Ensembl chrNW_004624731:4,678,731...4,687,617 		JBrowse link
G G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546 		JBrowse link
G P BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641 		JBrowse link
G S Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,147,773...3,155,739
Ensembl chrNW_004936602:3,148,567...3,155,736 		JBrowse link
G D BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258 		JBrowse link
G B BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545 		JBrowse link
G C Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618 		JBrowse link
G R Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,306,436...148,321,668
Ensembl chr 4:146,750,821...146,768,856 		JBrowse link
G M Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912 		JBrowse link
G H BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190 		JBrowse link
G N Brpf1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,364,870...4,381,581
Ensembl chrNW_004624731:4,364,565...4,383,157 		JBrowse link
G G BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,740,192...45,756,327
Ensembl chr22:45,740,351...45,756,390 		JBrowse link
G P BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,021,047...66,037,446
Ensembl chr13:66,021,325...66,037,445 		JBrowse link
G S Brpf1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,419,873...3,436,119
Ensembl chrNW_004936602:3,420,445...3,436,119 		JBrowse link
G D BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,493,183...8,508,785
Ensembl chr20:8,493,167...8,506,449 		JBrowse link
G B BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,684,091...9,700,376
Ensembl chr 3:9,922,769...9,939,016 		JBrowse link
G C Brpf1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,260,237...1,275,953
Ensembl chrNW_004955561:1,259,700...1,276,015 		JBrowse link
G R Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649 		JBrowse link
G M Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,283,824...113,301,823
Ensembl chr 6:113,284,098...113,301,821 		JBrowse link
G H BRPF1 bromodomain and PHD finger containing 1 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G N Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More... NCBI chr 6:11,883,353...12,307,023 JBrowse link
G P CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G D CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G B CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G C Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G R Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G M Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G H CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G N Camk1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,388,373...4,399,762
Ensembl chrNW_004624731:4,383,927...4,399,369 		JBrowse link
G G CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,763,799...45,776,792
Ensembl chr22:45,762,499...45,774,597 		JBrowse link
G P CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,044,713...66,055,290
Ensembl chr13:66,044,720...66,055,295 		JBrowse link
G S Camk1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,402,559...3,413,323
Ensembl chrNW_004936602:3,401,005...3,414,935 		JBrowse link
G D CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,475,902...8,486,214
Ensembl chr20:8,475,716...8,486,214 		JBrowse link
G B CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,708,782...9,721,433
Ensembl chr 3:9,945,609...9,959,560 		JBrowse link
G C Camk1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,282,970...1,292,710
Ensembl chrNW_004955561:1,282,970...1,294,972 		JBrowse link
G R Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,036,843...148,047,675
Ensembl chr 4:146,481,196...146,492,081 		JBrowse link
G M Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,311,085...113,320,883
Ensembl chr 6:113,311,085...113,320,945 		JBrowse link
G H CAMK1 calcium/calmodulin dependent protein kinase I IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,757,347...9,769,947
Ensembl chr 3:9,757,347...9,769,992 		JBrowse link
G N Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004624893:824,834...841,786
Ensembl chrNW_004624893:831,833...841,884 		JBrowse link
G G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:46,161,238...46,178,128
Ensembl chr  X:46,170,651...46,177,244 		JBrowse link
G P CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:43,128,938...43,146,777
Ensembl chr  X:43,134,275...43,146,775 		JBrowse link
G S Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004936721:954,188...971,507
Ensembl chrNW_004936721:964,603...969,992 		JBrowse link
G D CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:42,206,553...42,217,607
Ensembl chr  X:42,210,804...42,216,993 		JBrowse link
G B CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:41,341,834...41,367,761
Ensembl chr  X:49,207,391...49,223,552 		JBrowse link
G C Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544 		JBrowse link
G R Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743 		JBrowse link
G M Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:7,597,953...7,607,563
Ensembl chr  X:7,597,953...7,617,144 		JBrowse link
G H CCDC120 coiled-coil domain containing 120 IAGP ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:49,053,572...49,069,858
Ensembl chr  X:49,053,572...49,069,857 		JBrowse link
G N Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar 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 		JBrowse link
G G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar 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 		JBrowse link
G P CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar 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 		JBrowse link
G S Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar 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 		JBrowse link
G D CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar 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 		JBrowse link
G B CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar 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 		JBrowse link
G C Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar 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 		JBrowse link
G R Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar 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 		JBrowse link
G M Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar 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 		JBrowse link
G H CHD2 chromodomain helicase DNA binding protein 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset
ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure		 ClinVar 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 		JBrowse link
G N Cidec cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,474,912...4,484,866
Ensembl chrNW_004624731:4,474,689...4,484,894 		JBrowse link
G G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658 		JBrowse link
G P CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703 		JBrowse link
G S Cidec cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,312,146...3,323,009
Ensembl chrNW_004936602:3,313,208...3,322,604 		JBrowse link
G D CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774 		JBrowse link
G B CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,811,995...9,836,069
Ensembl chr 3:10,048,554...10,173,107 		JBrowse link
G C Cidec cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,363,907...1,376,144 JBrowse link
G R Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,124,924...148,137,806
Ensembl chr 4:146,569,289...146,582,173 		JBrowse link
G M Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721 		JBrowse link
G H CIDEC cell death inducing DFFA like effector c IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G N Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,341,091...4,363,112
Ensembl chrNW_004624731:4,342,172...4,362,931 		JBrowse link
G G CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,714,168...45,738,368 JBrowse link
G P CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:65,994,369...66,019,080
Ensembl chr13:65,995,534...66,019,077 		JBrowse link
G S Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,439,172...3,462,951
Ensembl chrNW_004936602:3,438,888...3,463,510 		JBrowse link
G D CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,511,267...8,529,630
Ensembl chr20:8,511,350...8,529,473 		JBrowse link
G B CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,655,280...9,682,266
Ensembl chr 3:9,893,662...9,920,728 		JBrowse link
G C Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,238,916...1,258,000
Ensembl chrNW_004955561:1,238,862...1,258,045 		JBrowse link
G R Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,429,961...146,454,335
Ensembl chr 4:146,430,792...146,454,333 		JBrowse link
G M Cpne9 copine family member IX ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,259,244...113,282,532
Ensembl chr 6:113,259,268...113,282,588 		JBrowse link
G H CPNE9 copine family member 9 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,703,833...9,729,908
Ensembl chr 3:9,703,826...9,729,908 		JBrowse link
G N Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,537,073...4,544,256
Ensembl chrNW_004624731:4,537,089...4,544,256 		JBrowse link
G G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712 		JBrowse link
G P CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412 		JBrowse link
G S Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,258,029...3,267,231
Ensembl chrNW_004936602:3,255,227...3,267,187 		JBrowse link
G D CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,333,911...8,342,429 JBrowse link
G B CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,878,265...9,889,826 JBrowse link
G C Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,423,229...1,430,679
Ensembl chrNW_004955561:1,423,405...1,433,314 		JBrowse link
G R Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,187,510...148,197,120
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G M Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304 		JBrowse link
G H CRELD1 cysteine rich with EGF like domains 1 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G N Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chrNW_004624760:6,605,902...6,646,575
Ensembl chrNW_004624760:6,604,787...6,646,622 		JBrowse link
G G DNM1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr12:9,874,098...9,927,737
Ensembl chr12:9,878,966...9,927,744 		JBrowse link
G P DNM1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,070...268,702,222 		JBrowse link
G S Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chrNW_004936487:15,767,897...15,797,722
Ensembl chrNW_004936487:15,767,897...15,801,211 		JBrowse link
G D DNM1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 9:55,252,802...55,298,244
Ensembl chr 9:55,252,347...55,298,244 		JBrowse link
G B DNM1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690 		JBrowse link
G C Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770 		JBrowse link
G R Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:15,604,784...15,648,538 		JBrowse link
G M Dnm1 dynamin 1 IAGP RGD PMID:27363778 RGD:11557016 NCBI chr 2:32,198,483...32,243,361
Ensembl chr 2:32,198,483...32,243,350 		JBrowse link
G H DNM1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G N Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,556,481...4,577,612
Ensembl chrNW_004624731:4,557,842...4,577,602 		JBrowse link
G G EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,990,708...46,015,697
Ensembl chr22:45,987,731...46,015,712 		JBrowse link
G P EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935 		JBrowse link
G S Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,220,545...3,239,913
Ensembl chrNW_004936602:3,220,253...3,240,050 		JBrowse link
G D EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,297,263...8,316,405
Ensembl chr20:8,297,274...8,315,426 		JBrowse link
G B EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,907,446...9,932,140
Ensembl chr 3:10,256,276...10,280,626 		JBrowse link
G C Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,442,953...1,459,988
Ensembl chrNW_004955561:1,442,953...1,459,988 		JBrowse link
G R Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,218,686...148,234,595
Ensembl chr 4:146,663,067...146,679,029 		JBrowse link
G M Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,491,848...113,508,599
Ensembl chr 6:113,491,835...113,508,613 		JBrowse link
G H EMC3 ER membrane protein complex subunit 3 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,962,682...10,011,118
Ensembl chr 3:9,962,682...10,011,202 		JBrowse link
G N Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,577,663...4,671,086
Ensembl chrNW_004624731:4,611,963...4,671,765 		JBrowse link
G G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713 		JBrowse link
G P FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433 		JBrowse link
G S Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868 		JBrowse link
G D FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568 		JBrowse link
G B FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190 		JBrowse link
G C Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045 		JBrowse link
G R Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G M Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G H FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G N Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,672,192...4,675,326
Ensembl chrNW_004624731:4,672,535...4,673,071 		JBrowse link
G G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392 		JBrowse link
G P FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166 		JBrowse link
G S Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,160,505...3,161,374
Ensembl chrNW_004936602:3,160,508...3,161,044 		JBrowse link
G D FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193 		JBrowse link
G B FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702 		JBrowse link
G C Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130 		JBrowse link
G R Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,296,478...148,303,037
Ensembl chr 4:146,740,863...146,747,569 		JBrowse link
G M Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
G H FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G N Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar 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 		JBrowse link
G G FGF12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More... NCBI chr15:86,252,816...86,836,363 JBrowse link
G P FGF12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar 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 		JBrowse link
G S Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar 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 		JBrowse link
G D FGF12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar 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 		JBrowse link
G B FGF12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar 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 		JBrowse link
G C Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar 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 		JBrowse link
G R Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar 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 		JBrowse link
G M Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar 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 		JBrowse link
G H FGF12 fibroblast growth factor 12 IAGP ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar 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 		JBrowse link
G N Fmr1 Fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chrNW_004624883:645,524...681,705
Ensembl chrNW_004624883:645,449...682,292 		JBrowse link
G G FMR1 Fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:122,635,383...122,674,298
Ensembl chr  X:122,635,439...122,674,355 		JBrowse link
G P FMR1 Fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:120,361,232...120,400,282
Ensembl chr  X:120,361,367...120,399,831 		JBrowse link
G S Fmr1 Fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chrNW_004936513:1,290,038...1,327,850
Ensembl chrNW_004936513:1,289,558...1,327,856 		JBrowse link
G D FMR1 Fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:116,249,079...116,287,008
Ensembl chr  X:116,249,142...116,321,439 		JBrowse link
G B FMR1 fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:136,937,889...136,976,828
Ensembl chr  X:147,365,748...147,405,321 		JBrowse link
G C Fmr1 Fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chrNW_004955498:566,741...594,837
Ensembl chrNW_004955498:566,688...595,360 		JBrowse link
G R Fmr1 fragile X messenger ribonucleoprotein 1 IEP protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G M Fmr1 fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:67,722,144...67,761,569
Ensembl chr  X:67,722,147...67,761,569 		JBrowse link
G H FMR1 fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G N Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:5,257,813...5,262,878
Ensembl chrNW_004624731:5,257,830...5,262,473 		JBrowse link
G G GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962 		JBrowse link
G P GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917 		JBrowse link
G S Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,037,862...3,044,863
Ensembl chrNW_004936602:3,038,549...3,042,506 		JBrowse link
G D GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510 		JBrowse link
G B GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723 		JBrowse link
G C Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812 		JBrowse link
G R Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G M Ghrl ghrelin ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841 		JBrowse link
G H GHRL ghrelin and obestatin prepropeptide IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947 		JBrowse link
G H GHRLOS ghrelin opposite strand/antisense RNA IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,280,952...10,293,449
Ensembl chr 3:10,285,754...10,294,903 		JBrowse link
G N Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,524,090...4,536,879
Ensembl chrNW_004624731:4,525,556...4,536,858 		JBrowse link
G G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,944,385...45,960,188
Ensembl chr22:45,944,669...45,960,164 		JBrowse link
G P IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,179,298...66,194,750 JBrowse link
G S Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,267,397...3,281,985
Ensembl chrNW_004936602:3,267,425...3,282,040 		JBrowse link
G D IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,342,622...8,355,996
Ensembl chr20:8,334,345...8,355,387 		JBrowse link
G B IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,861,423...9,878,154
Ensembl chr 3:10,210,241...10,226,796 		JBrowse link
G C Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,410,100...1,423,041
Ensembl chrNW_004955561:1,410,941...1,423,023 		JBrowse link
G R Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,174,573...148,187,071
Ensembl chr 4:146,619,004...146,631,442 		JBrowse link
G M Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101 		JBrowse link
G H IL17RC interleukin 17 receptor C IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,929,339...45,943,749 JBrowse link
G P IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,164,492...66,177,967 JBrowse link
G S Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,282,792...3,294,396
Ensembl chrNW_004936602:3,283,294...3,294,324 		JBrowse link
G D IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,356,150...8,376,175
Ensembl chr20:8,356,728...8,367,658 		JBrowse link
G B IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,846,319...9,860,735
Ensembl chr 3:10,195,209...10,208,958 		JBrowse link
G C Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,397,286...1,409,999
Ensembl chrNW_004955561:1,397,287...1,409,999 		JBrowse link
G R Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,160,384...148,173,830
Ensembl chr 4:146,605,526...146,618,206 		JBrowse link
G M Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719 		JBrowse link
G H IL17RE interleukin 17 receptor E IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402 		JBrowse link
G N Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004624909:462,724...564,989
Ensembl chrNW_004624909:460,626...565,133 		JBrowse link
G G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:49,363,569...49,452,872
Ensembl chr  X:49,364,909...49,387,050 		JBrowse link
G P IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:46,011,386...46,094,978
Ensembl chr  X:46,011,388...46,094,817 		JBrowse link
G S Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004936751:210,800...294,358
Ensembl chrNW_004936751:210,761...294,399 		JBrowse link
G D IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:44,861,813...44,915,011
Ensembl chr  X:44,872,888...44,913,704 		JBrowse link
G B IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:45,447,977...45,535,836
Ensembl chr  X:53,557,563...53,644,737 		JBrowse link
G C Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004955475:285,977...369,380
Ensembl chrNW_004955475:284,168...369,400 		JBrowse link
G R Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:24,734,202...24,816,566
Ensembl chr  X:21,254,914...21,336,584 		JBrowse link
G M Iqsec2 IQ motif and Sec7 domain 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:150,927,179...151,008,233
Ensembl chr  X:150,927,193...151,008,232 		JBrowse link
G H IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G N Irak2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:5,294,464...5,348,426
Ensembl chrNW_004624731:5,294,431...5,348,481 		JBrowse link
G G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260 		JBrowse link
G P IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827 		JBrowse link
G S Irak2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,073,910...3,129,344
Ensembl chrNW_004936602:3,073,889...3,129,408 		JBrowse link
G D IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,133,987...8,197,009
Ensembl chr20:8,134,970...8,196,910 		JBrowse link
G B IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629 		JBrowse link
G C Irak2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,585,842...1,650,268
Ensembl chrNW_004955561:1,585,827...1,653,197 		JBrowse link
G R Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,341,704...148,398,211
Ensembl chr 4:146,786,100...146,842,602 		JBrowse link
G M Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987 		JBrowse link
G H IRAK2 interleukin 1 receptor associated kinase 2 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745 		JBrowse link
G G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250 		JBrowse link
G P JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,154,855...66,158,329 JBrowse link
G S Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,300,685...3,303,509
Ensembl chrNW_004936602:3,298,348...3,303,555 		JBrowse link
G D JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085 		JBrowse link
G B JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064 		JBrowse link
G C Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,388,592...1,392,107
Ensembl chrNW_004955561:1,388,592...1,392,107 		JBrowse link
G R Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,147,213...148,151,915
Ensembl chr 4:146,591,510...146,596,288 		JBrowse link
G M Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190 		JBrowse link
G H JAGN1 jagunal homolog 1 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349 		JBrowse link
G H KYAT1-SPOUT1 KYAT1-SPOUT1 readthrough IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:38260255 NCBI chr 9:128,819,651...128,881,950 JBrowse link
G N Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chrNW_004624740:13,824,930...13,847,605
Ensembl chrNW_004624740:13,823,437...13,847,808 		JBrowse link
G G LIMK1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr28:8,953,095...8,988,848
Ensembl chr28:8,952,957...8,988,672 		JBrowse link
G P LIMK1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr 3:11,252,820...11,279,286
Ensembl chr 3:11,252,648...11,279,284 		JBrowse link
G D LIMK1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr 6:6,263,374...6,285,734
Ensembl chr 6:6,264,548...6,286,026 		JBrowse link
G B LIMK1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar Ensembl chr 7:81,231,876...81,271,282 JBrowse link
G C Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chrNW_004955456:13,751,135...13,773,722
Ensembl chrNW_004955456:13,750,889...13,774,021 		JBrowse link
G R Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr12:27,663,177...27,697,085
Ensembl chr12:22,026,672...22,060,606 		JBrowse link
G M Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr 5:134,684,893...134,718,713
Ensembl chr 5:134,684,893...134,717,452 		JBrowse link
G H LIMK1 LIM domain kinase 1 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G S LOC101960999 voltage-dependent P/Q-type calcium channel subunit alpha-1A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G S LOC101971716 eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G N Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,290,107...4,340,978
Ensembl chrNW_004624731:4,289,938...4,340,980 		JBrowse link
G G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,650,544...45,704,237
Ensembl chr22:45,650,556...45,713,176 		JBrowse link
G P MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:65,948,520...65,994,231
Ensembl chr13:65,948,544...65,994,820 		JBrowse link
G S Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,466,547...3,513,628
Ensembl chrNW_004936602:3,466,549...3,513,628 		JBrowse link
G D MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,530,682...8,576,911
Ensembl chr20:8,530,711...8,576,913 		JBrowse link
G B MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,600,866...9,653,860
Ensembl chr 3:9,839,821...9,892,055 		JBrowse link
G C Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,195,689...1,237,852
Ensembl chrNW_004955561:1,195,650...1,237,997 		JBrowse link
G R Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990 		JBrowse link
G M Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,214,596...113,258,353
Ensembl chr 6:113,214,804...113,258,353 		JBrowse link
G H MTMR14 myotubularin related protein 14 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G N Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196 		JBrowse link
G G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,757,414...45,763,690 JBrowse link
G P OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,038,669...66,045,478 JBrowse link
G S Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831 		JBrowse link
G D OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264 		JBrowse link
G B OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335 		JBrowse link
G C Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793 		JBrowse link
G R Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G M Ogg1 8-oxoguanine DNA-glycosylase 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G H OGG1 8-oxoguanine DNA glycosylase IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G N Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624737:8,021,478...8,154,543
Ensembl chrNW_004624737:8,022,836...8,154,422 		JBrowse link
G G PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:89,750,792...89,875,309 JBrowse link
G P PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr14:108,038,396...108,303,942
Ensembl chr14:108,039,431...108,303,929 		JBrowse link
G S Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936636:2,822,100...2,935,252
Ensembl chrNW_004936636:2,821,939...2,938,082 		JBrowse link
G D PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr28:9,977,463...10,095,363
Ensembl chr28:9,978,900...10,095,284 		JBrowse link
G B PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr10:93,210,174...93,339,545
Ensembl chr10:96,714,159...96,841,131 		JBrowse link
G C Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955507:2,805,782...2,918,664
Ensembl chrNW_004955507:2,801,970...2,918,670 		JBrowse link
G R Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:250,040,250...250,194,364
Ensembl chr 1:240,093,065...240,204,828 		JBrowse link
G M Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr19:41,260,980...41,373,541
Ensembl chr19:41,260,816...41,373,541 		JBrowse link
G H PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 IAGP ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr10:96,593,315...96,720,514
Ensembl chr10:96,593,315...96,720,514 		JBrowse link
G N Praf2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004624893:842,293...845,494
Ensembl chrNW_004624893:842,071...846,170 		JBrowse link
G G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:46,179,842...46,182,769
Ensembl chr  X:46,179,835...46,183,552 		JBrowse link
G P PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:43,147,473...43,150,350 JBrowse link
G S Praf2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004936721:972,095...974,738
Ensembl chrNW_004936721:971,744...975,580 		JBrowse link
G D PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:42,218,038...42,221,075
Ensembl chr  X:42,218,046...42,226,422 		JBrowse link
G B PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:41,369,432...41,372,322
Ensembl chr  X:49,224,864...49,233,960 		JBrowse link
G C Praf2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264 		JBrowse link
G R Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909 		JBrowse link
G M Praf2 PRA1 domain family 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:7,594,810...7,597,302
Ensembl chr  X:7,594,678...7,597,303 		JBrowse link
G H PRAF2 PRA1 domain family member 2 IAGP ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:49,071,161...49,074,002
Ensembl chr  X:49,071,161...49,074,002 		JBrowse link
G N Prrt3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,544,664...4,552,890
Ensembl chrNW_004624731:4,544,936...4,548,677 		JBrowse link
G G PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,970,474...45,978,764
Ensembl chr22:45,971,148...45,975,076 		JBrowse link
G P PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449 		JBrowse link
G S Prrt3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,252,655...3,257,400
Ensembl chrNW_004936602:3,248,628...3,257,291 		JBrowse link
G D PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,325,232...8,333,155
Ensembl chr20:8,328,943...8,332,954 		JBrowse link
G B PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,890,336...9,897,263
Ensembl chr 3:10,238,720...10,246,127 		JBrowse link
G C Prrt3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,430,767...1,437,981
Ensembl chrNW_004955561:1,431,375...1,435,670 		JBrowse link
G R Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317 		JBrowse link
G M Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,470,599...113,479,071
Ensembl chr 6:113,470,600...113,478,892 		JBrowse link
G H PRRT3 proline rich transmembrane protein 3 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,945,542...9,952,408
Ensembl chr 3:9,939,450...9,952,408 		JBrowse link
G N Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chrNW_004624838:1,040,108...1,269,000
Ensembl chrNW_004624838:1,040,525...1,258,151 		JBrowse link
G G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr24:12,344,951...12,615,669
Ensembl chr24:12,344,934...12,615,622 		JBrowse link
G P RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr 7:64,140,977...64,372,683
Ensembl chr 7:64,141,014...64,372,694 		JBrowse link
G S Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chrNW_004936494:9,649,444...9,866,942
Ensembl chrNW_004936494:9,659,285...9,866,408 		JBrowse link
G D RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr 8:14,221,516...14,463,481
Ensembl chr 8:14,222,749...14,462,998 		JBrowse link
G B RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430 		JBrowse link
G C Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chrNW_004955409:25,336,503...25,582,881
Ensembl chrNW_004955409:25,337,699...25,583,657 		JBrowse link
G R Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr 6:78,712,554...78,987,486
Ensembl chr 6:72,977,432...73,252,378 		JBrowse link
G M Ralgapa1 Ral GTPase activating protein, alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr12:55,649,673...55,868,522
Ensembl chr12:55,649,681...55,867,952 		JBrowse link
G H RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304 		JBrowse link
G N Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004624824:2,997,980...5,113,744
Ensembl chrNW_004624824:4,550,670...5,113,842 		JBrowse link
G G RBFOX1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 5:4,896,225...7,365,137 JBrowse link
G P RBFOX1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 3:34,938,703...37,209,772
Ensembl chr 3:34,939,573...37,300,810 		JBrowse link
G S Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004936530:5,259,612...6,843,668
Ensembl chrNW_004936530:6,306,877...6,845,073 		JBrowse link
G D RBFOX1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 6:34,218,276...36,255,529
Ensembl chr 6:34,220,648...36,255,384 		JBrowse link
G B RBFOX1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr16:4,162,659...6,640,962
Ensembl chr16:5,418,607...7,889,215 		JBrowse link
G C Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004955442:10,345,261...10,694,602
Ensembl chrNW_004955442:10,344,365...10,908,434 		JBrowse link
G R Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr10:8,658,809...10,754,648
Ensembl chr10:8,152,198...9,686,659 		JBrowse link
G M Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr16:5,702,566...7,230,344
Ensembl chr16:5,124,665...7,229,391 		JBrowse link
G H RBFOX1 RNA binding fox-1 homolog 1 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr16:5,239,721...7,713,340
Ensembl chr16:5,239,802...7,713,340 		JBrowse link
G N Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,463,848...4,467,541
Ensembl chrNW_004624731:4,463,980...4,467,491 		JBrowse link
G G RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,848,749...45,857,122
Ensembl chr22:45,848,788...45,857,117 		JBrowse link
G P RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,126,126...66,133,774
Ensembl chr13:66,126,124...66,133,747 		JBrowse link
G S Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,330,160...3,355,805
Ensembl chrNW_004936602:3,330,142...3,335,697 		JBrowse link
G D RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,406,549...8,414,029
Ensembl chr20:8,406,571...8,413,004 		JBrowse link
G B RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,788,950...9,795,189
Ensembl chr 3:10,025,320...10,031,639 		JBrowse link
G C Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,358,003...1,361,634
Ensembl chrNW_004955561:1,358,197...1,361,619 		JBrowse link
G R Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,553,743...146,562,789
Ensembl chr 4:146,558,562...146,562,794 		JBrowse link
G M Rpusd3 RNA pseudouridylate synthase domain containing 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,392,280...113,396,309
Ensembl chr 6:113,392,280...113,396,301 		JBrowse link
G H RPUSD3 RNA pseudouridine synthase D3 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,837,849...9,844,008
Ensembl chr 3:9,837,849...9,844,602 		JBrowse link
G N Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chr10:51,490,204...51,653,916 JBrowse link
G P SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G S Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G D SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G B SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G C Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G R Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G M Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G H SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G H SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G N Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G P SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G S Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G D SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G B SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G C Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G R Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G M Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G H SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145 		JBrowse link
G P SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211 		JBrowse link
G S Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005 		JBrowse link
G D SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685 		JBrowse link
G B SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509 		JBrowse link
G C Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200 		JBrowse link
G R Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G M Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		JBrowse link
G H SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G N Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624816:498,737...631,850
Ensembl chrNW_004624816:499,179...631,936 		JBrowse link
G G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399 		JBrowse link
G P SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543 		JBrowse link
G S Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688 		JBrowse link
G D SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482 		JBrowse link
G B SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357 		JBrowse link
G C Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971 		JBrowse link
G R Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G M Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		JBrowse link
G H SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G N Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:5,194,852...5,217,821
Ensembl chrNW_004624731:5,194,961...5,217,821 		JBrowse link
G G SEC13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,336,909...46,357,435
Ensembl chr22:46,336,829...46,355,723 		JBrowse link
G P SEC13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,483,620...66,524,411
Ensembl chr13:66,480,169...66,524,384 		JBrowse link
G S Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,013,490...3,030,489
Ensembl chrNW_004936602:3,013,337...3,030,486 		JBrowse link
G D SEC13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,041,485...8,075,078
Ensembl chr20:8,041,544...8,075,076 		JBrowse link
G B SEC13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,237,101...10,257,694
Ensembl chr 3:10,588,644...10,608,754 		JBrowse link
G C Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,707,053...1,723,715
Ensembl chrNW_004955561:1,707,053...1,723,862 		JBrowse link
G R Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,433,344...148,446,735
Ensembl chr 4:146,875,524...146,891,173 		JBrowse link
G M Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,705,013...113,717,642
Ensembl chr 6:113,705,023...113,717,704 		JBrowse link
G H SEC13 SEC13 homolog, nuclear pore and COPII coat complex component IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,300,931...10,321,112
Ensembl chr 3:10,293,131...10,321,112 		JBrowse link
G N Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chrNW_004624828:5,170,745...5,193,568
Ensembl chrNW_004624828:5,182,812...5,192,486 		JBrowse link
G G SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr 6:4,276,548...4,304,738 JBrowse link
G P SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr 2:74,262,303...74,296,386
Ensembl chr 2:74,258,439...74,296,385 		JBrowse link
G S Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chrNW_004936588:2,642,730...2,654,520
Ensembl chrNW_004936588:2,642,859...2,653,742 		JBrowse link
G D SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr20:55,151,913...55,173,434
Ensembl chr20:55,161,818...55,173,135 		JBrowse link
G B SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr19:3,562,673...3,600,981 JBrowse link
G C Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chrNW_004955495:4,387,147...4,399,430
Ensembl chrNW_004955495:4,388,516...4,399,313 		JBrowse link
G R Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:950,939...961,521 		JBrowse link
G M Sema6b sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr17:56,430,085...56,447,343
Ensembl chr17:56,430,085...56,447,343 		JBrowse link
G H SEMA6B semaphorin 6B IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr19:4,542,593...4,559,684
Ensembl chr19:4,542,588...4,581,776 		JBrowse link
G N Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More... NCBI chr16:6,060,445...6,089,867 JBrowse link
G P SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G S Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G D SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G B SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G C Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G R Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More... NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945 		JBrowse link
G M Slc13a5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G H SLC13A5 solute carrier family 13 member 5 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar 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 		JBrowse link
G N Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037 		JBrowse link
G G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		JBrowse link
G P SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867 		JBrowse link
G S Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713 		JBrowse link
G D SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		JBrowse link
G B SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143 		JBrowse link
G C Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511 		JBrowse link
G R Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G M Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
G H SLC2A1 solute carrier family 2 member 1 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G N Slc6a1 solute carrier family 6 member 1 ISO 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		 OMIM
ClinVar		 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 		JBrowse link
G G SLC6A1 solute carrier family 6 member 1 ISO 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		 OMIM
ClinVar		 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 		JBrowse link
G P SLC6A1 solute carrier family 6 member 1 ISO 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		 OMIM
ClinVar		 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 		JBrowse link
G S Slc6a1 solute carrier family 6 member 1 ISO 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		 OMIM
ClinVar		 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 		JBrowse link
G D SLC6A1 solute carrier family 6 member 1 ISO 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		 OMIM
ClinVar		 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 		JBrowse link
G B SLC6A1 solute carrier family 6 member 1 ISO 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		 OMIM
ClinVar		 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 		JBrowse link
G C Slc6a1 solute carrier family 6 member 1 ISO 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		 OMIM
ClinVar		 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 		JBrowse link
G R Slc6a1 solute carrier family 6 member 1 ISO 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		 OMIM
ClinVar		 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 		JBrowse link
G M Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 ISO 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		 OMIM
ClinVar		 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 		JBrowse link
G H SLC6A1 solute carrier family 6 member 1 IAGP 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		 OMIM
ClinVar		 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 		JBrowse link
G H SLC6A1-AS1 SLC6A1 antisense RNA 1 IAGP 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		 ClinVar 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 		JBrowse link
G N Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624943:694,447...803,993
Ensembl chrNW_004624943:692,513...804,023 		JBrowse link
G G SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,857,117...46,978,652
Ensembl chr22:46,857,569...46,978,088 		JBrowse link
G P SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,998,113...67,115,918
Ensembl chr13:66,998,336...67,115,907 		JBrowse link
G S Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:2,437,653...2,564,309
Ensembl chrNW_004936602:2,439,813...2,564,313 		JBrowse link
G D SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:7,431,015...7,559,903
Ensembl chr20:7,433,194...7,560,564 		JBrowse link
G B SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,753,412...10,878,333
Ensembl chr 3:11,101,336...11,222,948 		JBrowse link
G C Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955429:13,774,455...13,880,690
Ensembl chrNW_004955429:13,774,455...13,880,690 		JBrowse link
G R Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,853,557...148,968,895
Ensembl chr 4:147,297,969...147,413,443 		JBrowse link
G M Slc6a11 solute carrier family 6 (neurotransmitter transporter, GABA), member 11 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:114,108,202...114,226,847
Ensembl chr 6:114,108,202...114,226,913 		JBrowse link
G H SLC6A11 solute carrier family 6 member 11 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,816,228...10,940,714
Ensembl chr 3:10,816,201...10,940,714 		JBrowse link
G N Spout1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:38260255 NCBI chrNW_004624760:6,186,779...6,193,519
Ensembl chrNW_004624760:6,186,901...6,196,374 		JBrowse link
G G SPOUT1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:38260255 NCBI chr12:9,314,991...9,323,455 JBrowse link
G P SPOUT1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:38260255 NCBI chr 1:269,157,173...269,167,154
Ensembl chr 1:269,157,176...269,167,087 		JBrowse link
G S Spout1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:38260255 NCBI chrNW_004936487:16,284,921...16,291,572
Ensembl chrNW_004936487:16,285,546...16,291,534 		JBrowse link
G D SPOUT1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:38260255 NCBI chr 9:54,802,145...54,811,709
Ensembl chr 9:54,802,214...54,810,039 		JBrowse link
G B SPOUT1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:38260255 NCBI chr 9:99,945,345...99,953,692
Ensembl chr 9:128,613,437...128,620,450 		JBrowse link
G C Spout1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:38260255 NCBI chrNW_004955570:1,202,987...1,211,052
Ensembl chrNW_004955570:1,204,040...1,211,020 		JBrowse link
G R Spout1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:38260255 NCBI chr 3:13,451,191...13,458,918
Ensembl chr 3:13,451,202...13,493,355 		JBrowse link
G M Spout1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:38260255 NCBI chr 2:30,063,458...30,068,506
Ensembl chr 2:30,063,465...30,068,471 		JBrowse link
G H SPOUT1 SPOUT domain containing methyltransferase 1 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:38260255 NCBI chr 9:128,819,651...128,829,794
Ensembl chr 9:128,819,651...128,829,794 		JBrowse link
G N Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004624807:4,937,573...5,169,104
Ensembl chrNW_004624807:4,935,472...5,169,050 		JBrowse link
G G SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr25:22,897,699...23,147,097
Ensembl chr25:22,897,469...23,145,218 		JBrowse link
G P SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 9:66,838,062...67,117,315
Ensembl chr 9:66,838,123...67,117,315 		JBrowse link
G S Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004936557:6,096,258...6,338,024
Ensembl chrNW_004936557:6,096,246...6,338,108 		JBrowse link
G D SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr38:2,506,617...2,741,866 JBrowse link
G B SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:181,808,318...182,064,583
Ensembl chr 1:186,092,113...186,346,019 		JBrowse link
G C Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004955406:41,801,235...42,050,731
Ensembl chrNW_004955406:41,801,235...42,050,731 		JBrowse link
G R Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr13:45,298,192...45,519,330
Ensembl chr13:42,745,947...42,967,058 		JBrowse link
G M Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:131,212,989...131,455,269
Ensembl chr 1:131,212,989...131,455,090 		JBrowse link
G H SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:206,203,541...206,464,436
Ensembl chr 1:206,203,346...206,464,436 		JBrowse link
G N Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G P STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G S Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G D STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G B STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G C Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G R Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G M Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar 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 		JBrowse link
G H STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Infantile spasm
ClinVar Annotator: match by term: Early onset epileptic encephalopathy		 ClinVar 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 		JBrowse link
G N Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:4,409,550...4,420,498
Ensembl chrNW_004624731:4,408,918...4,419,545 		JBrowse link
G G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,787,945...45,799,529
Ensembl chr22:45,786,012...45,798,019 		JBrowse link
G P TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,067,623...66,080,170
Ensembl chr13:66,067,632...66,080,023 		JBrowse link
G S Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,375,971...3,388,787
Ensembl chrNW_004936602:3,376,033...3,388,820 		JBrowse link
G D TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,453,269...8,464,921
Ensembl chr20:8,453,489...8,464,913 		JBrowse link
G B TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,731,462...9,744,513
Ensembl chr 3:9,969,550...9,982,389 		JBrowse link
G C Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,304,222...1,314,092
Ensembl chrNW_004955561:1,304,232...1,348,121 		JBrowse link
G R Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,065,859...148,077,347
Ensembl chr 4:146,510,246...146,521,590 		JBrowse link
G M Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,343,594...113,354,799
Ensembl chr 6:113,342,986...113,354,844 		JBrowse link
G H TADA3 transcriptional adaptor 3 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,779,967...9,793,011
Ensembl chr 3:9,779,967...9,793,011 		JBrowse link
G N Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:5,263,741...5,289,601
Ensembl chrNW_004624731:5,262,848...5,289,717 		JBrowse link
G G TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,284,624...46,321,473
Ensembl chr22:46,284,685...46,321,710 		JBrowse link
G P TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,421,472...66,441,978
Ensembl chr13:66,422,345...66,441,980 		JBrowse link
G S Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,047,798...3,072,216
Ensembl chrNW_004936602:3,048,006...3,072,684 		JBrowse link
G D TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,101,994...8,131,578 JBrowse link
G B TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,184,220...10,217,099
Ensembl chr 3:10,536,852...10,568,824 		JBrowse link
G C Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,653,471...1,673,260
Ensembl chrNW_004955561:1,653,471...1,671,407 		JBrowse link
G R Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,845,156...146,865,708
Ensembl chr 4:146,845,156...146,860,897 		JBrowse link
G M Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,674,090...113,688,030
Ensembl chr 6:113,674,011...113,688,030 		JBrowse link
G H TATDN2 TatD DNase domain containing 2 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,248,459...10,281,218
Ensembl chr 3:10,248,023...10,281,218 		JBrowse link
G N Tbc1d24 TBC1 domain family member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249 		JBrowse link
G G TBC1D24 TBC1 domain family member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr 5:2,353,543...2,378,950 JBrowse link
G P TBC1D24 TBC1 domain family member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277 		JBrowse link
G S Tbc1d24 TBC1 domain family member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201 		JBrowse link
G D TBC1D24 TBC1 domain family member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr 6:38,531,547...38,557,472 JBrowse link
G B TBC1D24 TBC1 domain family member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912 		JBrowse link
G C Tbc1d24 TBC1 domain family member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224 		JBrowse link
G R Tbc1d24 TBC1 domain family, member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G M Tbc1d24 TBC1 domain family, member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		JBrowse link
G H TBC1D24 TBC1 domain family member 24 IAGP DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G G TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,817,048...45,843,878 JBrowse link
G P TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,094,069...66,123,984
Ensembl chr13:66,056,890...66,123,977 		JBrowse link
G D TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,414,289...8,439,071
Ensembl chr20:8,415,723...8,439,056 		JBrowse link
G B TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,759,871...9,786,690
Ensembl chr 3:9,999,144...10,035,633 		JBrowse link
G C Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,330,378...1,353,217 JBrowse link
G R Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,088,575...148,113,526
Ensembl chr 4:146,533,953...146,557,889 		JBrowse link
G M Ttll3 tubulin tyrosine ligase-like family, member 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,366,221...113,391,553
Ensembl chr 6:113,366,221...113,391,548 		JBrowse link
G H TTLL3 tubulin tyrosine ligase like 3 IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:9,809,727...9,836,365
Ensembl chr 3:9,808,086...9,855,138 		JBrowse link
G N Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004624731:5,350,912...5,359,286 JBrowse link
G G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
G P VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		JBrowse link
G S Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004936602:3,135,790...3,140,622 JBrowse link
G D VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
G B VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
G C Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		JBrowse link
G R Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
G M Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
G H VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
G N Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004624893:845,689...852,221
Ensembl chrNW_004624893:845,701...852,244 		JBrowse link
G G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:46,183,278...46,188,564
Ensembl chr  X:46,183,443...46,188,536 		JBrowse link
G P WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
G S Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004936721:975,113...981,149
Ensembl chrNW_004936721:975,104...981,731 		JBrowse link
G D WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:42,221,261...42,237,535
Ensembl chr  X:42,218,046...42,226,422 		JBrowse link
G B WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:41,372,722...41,400,441
Ensembl chr  X:49,224,864...49,233,960 		JBrowse link
G C Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963 		JBrowse link
G R Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
G M Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:7,588,212...7,594,439
Ensembl chr  X:7,580,572...7,594,445 		JBrowse link
G H WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Adarb1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chrNW_004624745:30,549,195...30,635,081
Ensembl chrNW_004624745:30,549,257...30,635,269 		JBrowse link
G G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr 2:88,780,954...88,915,672
Ensembl chr 2:88,833,707...88,918,066 		JBrowse link
G P ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr13:207,746,915...207,791,809
Ensembl chr13:207,691,174...207,791,802 		JBrowse link
G S Adarb1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chrNW_004936778:1,056,259...1,137,772
Ensembl chrNW_004936778:1,053,871...1,137,828 		JBrowse link
G D ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr31:38,715,529...38,799,353
Ensembl chr31:38,678,184...38,796,521 		JBrowse link
G B ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr21:31,374,841...31,532,721
Ensembl chr21:44,715,931...44,815,748 		JBrowse link
G C Adarb1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chrNW_004955407:41,886,286...41,962,846
Ensembl chrNW_004955407:41,886,286...41,962,897 		JBrowse link
G R Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr20:11,222,171...11,350,416
Ensembl chr20:11,222,583...11,350,852 		JBrowse link
G M Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104 		JBrowse link
G H ADARB1 adenosine deaminase RNA specific B1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560 		JBrowse link
G N Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chrNW_004624969:265,457...290,514
Ensembl chrNW_004624969:265,117...290,361 		JBrowse link
G G CPSF3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr14:98,174,022...98,226,486
Ensembl chr14:98,173,117...98,226,907 		JBrowse link
G P CPSF3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr 3:126,868,519...126,905,699
Ensembl chr 3:126,868,467...126,905,746 		JBrowse link
G S Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chrNW_004936532:5,814,331...5,850,188
Ensembl chrNW_004936532:5,814,329...5,850,352 		JBrowse link
G D CPSF3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr17:6,537,404...6,576,121
Ensembl chr17:6,537,465...6,575,825 		JBrowse link
G B CPSF3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr2A:9,413,517...9,462,758
Ensembl chr2A:9,576,871...9,626,193 		JBrowse link
G C Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chrNW_004955487:5,146,541...5,170,077
Ensembl chrNW_004955487:5,146,541...5,170,077 		JBrowse link
G R Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr 6:40,836,121...40,864,129
Ensembl chr 6:40,836,097...40,864,128 		JBrowse link
G M Cpsf3 cleavage and polyadenylation specificity factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr12:21,336,298...21,365,057
Ensembl chr12:21,335,392...21,365,057 		JBrowse link
G H CPSF3 cleavage and polyadenylation specific factor 3 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ankrd44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chrNW_004624889:2,883,639...3,126,011
Ensembl chrNW_004624889:2,883,624...3,124,709 		JBrowse link
G G ANKRD44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr10:82,476,650...82,817,635
Ensembl chr10:82,501,795...82,817,629 		JBrowse link
G P ANKRD44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr15:100,868,469...101,211,172
Ensembl chr15:100,868,472...101,211,242 		JBrowse link
G S Ankrd44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chrNW_004936506:1,880,001...2,167,663
Ensembl chrNW_004936506:1,879,955...2,167,675 		JBrowse link
G D ANKRD44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr37:6,500,741...6,756,505
Ensembl chr37:6,541,554...6,753,028 		JBrowse link
G B ANKRD44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr2B:84,230,570...84,554,326
Ensembl chr2B:202,128,829...202,331,534 		JBrowse link
G C Ankrd44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chrNW_004955403:3,228,360...3,476,988
Ensembl chrNW_004955403:3,299,083...3,462,661 		JBrowse link
G R Ankrd44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr 9:56,126,746...56,427,661
Ensembl chr 9:56,126,747...56,427,508 		JBrowse link
G M Ankrd44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr 1:54,684,499...54,968,142
Ensembl chr 1:54,684,499...54,965,546 		JBrowse link
G H ANKRD44 ankyrin repeat domain 44 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr 2:196,967,014...197,310,780
Ensembl chr 2:196,967,017...197,311,173 		JBrowse link
G N Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chrNW_004624854:475,098...831,202
Ensembl chrNW_004624854:618,262...824,178 		JBrowse link
G G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chr10:81,739,680...82,127,332
Ensembl chr10:81,743,021...81,974,689 		JBrowse link
G P HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chr15:100,086,724...100,499,566
Ensembl chr15:100,092,882...100,498,157 		JBrowse link
G S Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chrNW_004936506:2,704,885...2,913,663
Ensembl chrNW_004936506:2,558,249...2,909,110 		JBrowse link
G D HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chr37:5,850,518...6,213,353
Ensembl chr37:5,856,513...6,213,820 		JBrowse link
G B HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chr2B:83,445,401...83,838,065
Ensembl chr2B:201,351,023...201,584,044 		JBrowse link
G C Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chrNW_004955403:3,902,881...4,096,189
Ensembl chrNW_004955403:3,752,461...4,090,041 		JBrowse link
G R Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chr 9:62,853,904...63,247,472
Ensembl chr 9:55,365,203...55,580,327 		JBrowse link
G M Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chr 1:53,846,031...54,234,193
Ensembl chr 1:53,846,035...54,234,327 		JBrowse link
G H HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language
ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language		 ClinVar
OMIM		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684 		JBrowse link
G N Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chrNW_004624760:4,016,441...4,067,325
Ensembl chrNW_004624760:4,016,441...4,067,126 		JBrowse link
G G NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr12:5,897,613...5,978,129
Ensembl chr12:5,899,459...5,972,660 		JBrowse link
G P NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 1:272,007,513...272,077,105
Ensembl chr 1:272,012,112...272,077,018 		JBrowse link
G S Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chrNW_004936487:18,779,470...18,838,245
Ensembl chrNW_004936487:18,783,058...18,837,481 		JBrowse link
G D NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 9:51,994,593...52,004,620 JBrowse link
G B NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 9:103,281,915...103,362,786
Ensembl chr 9:131,917,760...131,998,107 		JBrowse link
G C Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chrNW_004955513:1,654,398...1,701,062 JBrowse link
G R Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 3:32,889,856...32,949,032
Ensembl chr 3:12,492,639...12,545,890 		JBrowse link
G M Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 2:29,084,738...29,138,111
Ensembl chr 2:29,084,553...29,143,017 		JBrowse link
G H NTNG2 netrin G2 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526 		JBrowse link
Occipital Cortical Malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chrNW_004624760:4,759,680...4,807,720
Ensembl chrNW_004624760:4,760,351...4,807,720 		JBrowse link
G G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chr12:7,048,396...7,134,405 JBrowse link
G P LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chr 1:271,004,423...271,071,223
Ensembl chr 1:271,004,433...271,071,223 		JBrowse link
G S Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chrNW_004936487:17,910,673...17,958,641
Ensembl chrNW_004936487:17,915,104...17,957,596 		JBrowse link
G D LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chr 9:52,970,313...53,028,817
Ensembl chr 9:52,970,306...53,028,821 		JBrowse link
G B LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chr 9:102,131,594...102,213,829
Ensembl chr 9:130,777,182...130,861,292 		JBrowse link
G C Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chrNW_004955513:872,301...934,234
Ensembl chrNW_004955513:881,092...934,458 		JBrowse link
G R Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chr 3:35,562,989...35,624,460
Ensembl chr 3:15,165,220...15,226,697 		JBrowse link
G M Lamc3 laminin gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chr 2:31,777,293...31,839,095
Ensembl chr 2:31,777,303...31,836,551 		JBrowse link
G H LAMC3 laminin subunit gamma 3 IAGP ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chr 9:131,009,174...131,094,473
Ensembl chr 9:131,009,174...131,094,473 		JBrowse link
G H LOC126860777 BRD4-independent group 4 enhancer GRCh37_chr9:133927058-133928257 IAGP ClinVar Annotator: match by term: Cortical malformations, occipital
ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:131,051,671...131,052,870 JBrowse link
optic atrophy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chrNW_004624780:15,606,146...15,705,320
Ensembl chrNW_004624780:15,664,836...15,705,320 		JBrowse link
G G RTN4IP1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr13:67,188,707...67,243,288
Ensembl chr13:67,189,318...67,243,925 		JBrowse link
G P RTN4IP1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr 1:72,763,453...72,816,450
Ensembl chr 1:72,762,855...72,815,540 		JBrowse link
G S Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chrNW_004936564:3,104,652...3,149,100
Ensembl chrNW_004936564:3,104,163...3,149,072 		JBrowse link
G D RTN4IP1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr12:63,926,803...63,972,417
Ensembl chr12:63,926,799...63,972,369 		JBrowse link
G B RTN4IP1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr 6:104,368,222...104,444,583
Ensembl chr 6:108,258,745...108,315,214 		JBrowse link
G C Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chrNW_004955411:31,902,848...31,950,645
Ensembl chrNW_004955411:31,902,848...31,950,645 		JBrowse link
G R Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr20:48,964,903...49,004,235
Ensembl chr20:47,382,234...47,422,338 		JBrowse link
G M Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr10:43,777,772...43,823,860
Ensembl chr10:43,777,803...43,833,197 		JBrowse link
G H RTN4IP1 reticulon 4 interacting protein 1 IAGP ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr 6:106,570,771...106,630,491
Ensembl chr 6:106,570,771...106,629,498 		JBrowse link
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Csmd3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chrNW_004624763:11,031,016...12,184,254
Ensembl chrNW_004624763:11,032,803...12,183,447 		JBrowse link
G G CSMD3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chr 8:106,913,123...108,143,655
Ensembl chr 8:106,914,976...107,393,443 		JBrowse link
G P CSMD3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chr 4:24,647,864...25,871,456
Ensembl chr 4:24,648,200...25,870,856 		JBrowse link
G S Csmd3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chrNW_004936470:32,244,712...33,323,374
Ensembl chrNW_004936470:32,245,093...33,324,814 		JBrowse link
G D CSMD3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chr13:12,401,118...13,570,464
Ensembl chr13:12,401,565...13,569,798 		JBrowse link
G B CSMD3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chr 8:108,866,817...110,077,727
Ensembl chr 8:111,423,262...112,630,306 		JBrowse link
G C Csmd3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chrNW_004955417:19,040,692...20,125,790
Ensembl chrNW_004955417:19,042,490...20,125,546 		JBrowse link
G R Csmd3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chr 7:78,747,322...80,066,466
Ensembl chr 7:78,748,480...80,066,369 		JBrowse link
G M Csmd3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chr15:47,444,034...48,655,954
Ensembl chr15:47,444,033...48,655,459 		JBrowse link
G H CSMD3 CUB and Sushi multiple domains 3 IAGP ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chr 8:112,222,928...113,436,939
Ensembl chr 8:112,222,928...113,436,939 		JBrowse link
Partington syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chrNW_004624897:1,279,138...1,303,210 JBrowse link
G G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:23,499,791...23,518,333
Ensembl chr  X:23,500,454...23,511,524 		JBrowse link
G P ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
G S Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chrNW_004936836:295,090...306,756
Ensembl chrNW_004936836:295,664...306,756 		JBrowse link
G D ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:20,545,346...20,556,206
Ensembl chr  X:20,545,346...20,556,206 		JBrowse link
G B ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:17,598,858...17,612,544 JBrowse link
G C Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chrNW_004955509:5,326,145...5,338,250 JBrowse link
G R Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome
DNA:duplication:exon:c.428-451dup (human)		 OMIM
CTD
ClinVar
RGD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... RGD:11565843 NCBI chr  X:62,010,097...62,022,009
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
G M Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome
DNA:duplication:exon:c.428-451dup (human)		 OMIM
CTD
ClinVar
RGD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... RGD:11565843 NCBI chr  X:92,330,113...92,341,963
Ensembl chr  X:92,330,051...92,341,963 		JBrowse link
G H ARX aristaless related homeobox IAGP
EXP		 DNA:duplication:exon:c.428-451dup (human)
ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... RGD:11565843 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G H LOC109610631 aristaless related homeobox polyalanine expansion region IAGP ClinVar Annotator: match by term: Partington syndrome ClinVar PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:25,013,530...25,013,697 JBrowse link
PHGDH deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G ADAM30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr20:13,887,509...13,890,543
Ensembl chr20:13,887,666...13,890,095 		JBrowse link
G P ADAM30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 4:101,314,710...101,316,974
Ensembl chr 4:101,314,710...101,316,893 		JBrowse link
G S Adam30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004936872:578,616...580,853 JBrowse link
G B ADAM30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:82,630,734...82,633,448
Ensembl chr 1:117,628,573...117,631,026 		JBrowse link
G R Adam30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:188,440,918...188,444,358
Ensembl chr 2:185,752,072...185,755,599 		JBrowse link
G M Adam30 a disintegrin and metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 3:98,067,950...98,071,485
Ensembl chr 3:98,067,946...98,071,485 		JBrowse link
G H ADAM30 ADAM metallopeptidase domain 30 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:119,893,533...119,896,515
Ensembl chr 1:119,893,533...119,896,515 		JBrowse link
G N Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004624772:14,981,777...15,022,699
Ensembl chrNW_004624772:14,981,666...15,023,173 		JBrowse link
G G HAO2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr20:14,376,096...14,408,753
Ensembl chr20:14,374,543...14,407,992 		JBrowse link
G P HAO2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 4:101,588,510...101,787,818
Ensembl chr 4:101,588,861...101,732,304 		JBrowse link
G S Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004936627:4,167,501...4,179,596
Ensembl chrNW_004936627:4,159,214...4,179,806 		JBrowse link
G D HAO2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr17:56,505,463...56,529,441
Ensembl chr17:56,505,506...56,528,954 		JBrowse link
G B HAO2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:83,160,326...83,185,688
Ensembl chr 1:118,157,037...118,182,957 		JBrowse link
G C Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004955435:22,380,395...22,404,426
Ensembl chrNW_004955435:22,380,388...22,404,052 		JBrowse link
G R Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:188,888,848...188,921,567
Ensembl chr 2:186,200,504...186,224,425 		JBrowse link
G M Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 3:98,781,835...98,802,692
Ensembl chr 3:98,781,837...98,800,555 		JBrowse link
G H HAO2 hydroxyacid oxidase 2 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:119,368,785...119,394,130
Ensembl chr 1:119,368,779...119,394,130 		JBrowse link
G N Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624772:15,432,612...15,464,343
Ensembl chrNW_004624772:15,432,198...15,467,797 		JBrowse link
G G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:14,018,669...14,040,934
Ensembl chr20:14,019,692...14,041,016 		JBrowse link
G P HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:101,420,941...101,440,302
Ensembl chr 4:101,420,872...101,438,126 		JBrowse link
G S Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936627:4,451,847...4,473,163
Ensembl chrNW_004936627:4,451,823...4,473,223 		JBrowse link
G D HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G B HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679 		JBrowse link
G C Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482 		JBrowse link
G R Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:188,564,348...188,590,872
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G M Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:98,187,747...98,218,054
Ensembl chr 3:98,187,751...98,218,054 		JBrowse link
G H HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905 		JBrowse link
G P HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 4:101,565,229...101,574,110 JBrowse link
G R Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:188,858,574...188,864,694
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G M Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 3:98,749,672...98,767,110
Ensembl chr 3:98,759,510...98,767,110 		JBrowse link
G H HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:119,507,203...119,515,058
Ensembl chr 1:119,507,198...119,515,054 		JBrowse link
G D HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062 		JBrowse link
G B HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124 		JBrowse link
G C Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004955435:22,414,605...22,421,682 JBrowse link
G R Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:188,784,614...188,812,535
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G H HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G D LOC100682600 disintegrin and metalloproteinase domain-containing protein 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr17:56,768,324...56,772,594 JBrowse link
G S LOC101965998 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321 		JBrowse link
G D LOC480786 regenerating islet-derived protein 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr17:56,728,398...56,772,734 JBrowse link
G N Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:15,572,350...15,726,312
Ensembl chrNW_004624772:15,571,998...15,726,426 		JBrowse link
G G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784 		JBrowse link
G P NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		JBrowse link
G D NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857 		JBrowse link
G B NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840 		JBrowse link
G C Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173 		JBrowse link
G R Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G M Notch2 notch 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677 		JBrowse link
G H NOTCH2 notch receptor 2 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G N Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chrNW_004624772:15,473,609...15,514,392
Ensembl chrNW_004624772:15,473,221...15,514,637 		JBrowse link
G G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr20:14,045,395...14,075,935
Ensembl chr20:14,045,346...14,076,177 		JBrowse link
G P PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,444,693...101,478,144 		JBrowse link
G S Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chrNW_004936627:4,414,122...4,448,347
Ensembl chrNW_004936627:4,414,122...4,448,623 		JBrowse link
G D PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr17:56,806,912...56,833,765 JBrowse link
G B PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462 		JBrowse link
G C Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chrNW_004955435:22,757,473...22,803,123
Ensembl chrNW_004955435:22,757,454...22,803,123 		JBrowse link
G R Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 2:188,595,700...188,624,789
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G M Phgdh 3-phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 3:98,220,487...98,247,285
Ensembl chr 3:98,220,486...98,247,306 		JBrowse link
G H PHGDH phosphoglycerate dehydrogenase IAGP
EXP		 ClinVar Annotator: match by term: PHGDH deficiency
ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G N Reg4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:15,385,265...15,399,281
Ensembl chrNW_004624772:15,386,024...15,398,761 		JBrowse link
G G REG4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr20:13,975,721...13,995,645
Ensembl chr20:13,978,512...13,993,678 		JBrowse link
G P REG4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 4:101,337,295...101,354,550
Ensembl chr 4:101,337,282...101,357,025 		JBrowse link
G S Reg4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004936627:4,512,726...4,520,080
Ensembl chrNW_004936627:4,512,726...4,520,080 		JBrowse link
G B REG4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:82,735,390...82,753,262
Ensembl chr 1:117,733,515...117,751,044 		JBrowse link
G C Reg4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004955435:22,886,351...22,895,884 JBrowse link
G R Reg4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,818,946...185,833,252
Ensembl chr 2:185,821,210...185,833,353 		JBrowse link
G M Reg4 regenerating islet-derived family, member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 3:98,129,454...98,144,064
Ensembl chr 3:98,129,472...98,144,064 		JBrowse link
G H REG4 regenerating family member 4 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:119,794,017...119,811,460
Ensembl chr 1:119,794,017...119,811,580 		JBrowse link
G N Tbx15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004624772:14,483,951...14,611,602
Ensembl chrNW_004624772:14,482,948...14,611,452 		JBrowse link
G G TBX15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr20:14,762,073...14,870,417
Ensembl chr20:14,818,525...14,871,196 		JBrowse link
G P TBX15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 4:101,918,891...102,032,280 JBrowse link
G S Tbx15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004936627:3,745,399...3,852,861
Ensembl chrNW_004936627:3,745,287...3,853,309 		JBrowse link
G D TBX15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr17:56,079,739...56,190,417
Ensembl chr17:56,081,411...56,204,192 		JBrowse link
G B TBX15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:83,556,763...83,663,453
Ensembl chr 1:118,553,638...118,659,379 		JBrowse link
G C Tbx15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004955435:21,874,154...21,993,510
Ensembl chrNW_004955435:21,872,201...21,993,772 		JBrowse link
G R Tbx15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:189,265,373...189,376,466
Ensembl chr 2:186,576,676...186,687,663 		JBrowse link
G M Tbx15 T-box 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 3:99,147,671...99,261,576
Ensembl chr 3:99,147,697...99,261,575 		JBrowse link
G H TBX15 T-box transcription factor 15 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G N Wars2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004624772:14,652,874...14,735,732
Ensembl chrNW_004624772:14,654,403...14,735,315 		JBrowse link
G G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr20:14,614,902...14,726,630
Ensembl chr20:14,615,349...14,726,780 		JBrowse link
G P WARS2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 4:101,787,585...101,881,231
Ensembl chr 4:101,787,583...101,883,070 		JBrowse link
G S Wars2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004936627:3,890,629...3,963,169
Ensembl chrNW_004936627:3,890,629...3,962,899 		JBrowse link
G D WARS2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr17:56,229,175...56,322,688
Ensembl chr17:56,229,769...56,322,638 		JBrowse link
G B WARS2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:83,405,595...83,515,718
Ensembl chr 1:118,402,385...118,516,099 		JBrowse link
G C Wars2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004955435:22,032,230...22,115,138
Ensembl chrNW_004955435:22,032,230...22,115,138 		JBrowse link
G R Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571 		JBrowse link
G M Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 3:99,047,423...99,128,546
Ensembl chr 3:99,048,384...99,146,502 		JBrowse link
G H WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G R Zfp697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:185,970,562...186,003,884
Ensembl chr 2:185,970,576...186,001,041 		JBrowse link
G M Zfp697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 3:98,289,278...98,508,893
Ensembl chr 3:98,289,777...98,661,128 		JBrowse link
G N Znf697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004624772:15,135,558...15,171,490
Ensembl chrNW_004624772:15,135,564...15,142,086 		JBrowse link
G G ZNF697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr20:14,144,704...14,173,417
Ensembl chr20:14,144,990...14,170,099 		JBrowse link
G P ZNF697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 4:101,520,252...101,552,266
Ensembl chr 4:101,521,763...101,552,753 		JBrowse link
G S Znf697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004936627:4,330,997...4,357,575
Ensembl chrNW_004936627:4,328,407...4,334,969 		JBrowse link
G D ZNF697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr17:56,573,771...56,604,278
Ensembl chr17:56,576,916...56,578,898
Ensembl chr17:56,576,916...56,578,898 		JBrowse link
G B ZNF697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:82,898,848...82,927,622 JBrowse link
G C Znf697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004955435:22,660,287...22,693,591
Ensembl chrNW_004955435:22,660,234...22,680,527 		JBrowse link
G H ZNF697 zinc finger protein 697 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:119,619,377...119,648,266
Ensembl chr 1:119,619,377...119,648,266 		JBrowse link
Primary Aldosteronism, Seizures, and Neurologic Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624822:3,391,045...3,734,258
Ensembl chrNW_004624822:3,392,044...3,919,415 		JBrowse link
G G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr22:14,868,459...15,195,002
Ensembl chr22:15,027,565...15,197,101 		JBrowse link
G P CACNA1D calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662 		JBrowse link
G S Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936473:4,164,633...4,479,866
Ensembl chrNW_004936473:4,037,533...4,478,073 		JBrowse link
G D CACNA1D calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686 		JBrowse link
G B CACNA1D calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444 		JBrowse link
G C Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955430:3,450,151...3,796,983
Ensembl chrNW_004955430:3,268,953...3,794,592 		JBrowse link
G R Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,228,306...5,668,215 		JBrowse link
G M Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412 		JBrowse link
G H CACNA1D calcium voltage-gated channel subunit alpha1 D IAGP ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities
ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G H LOC129936904 ATAC-STARR-seq lymphoblastoid active region 19969 IAGP ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities
ClinVar Annotator: match by term: CACNA1D-related disorder		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:53,749,273...53,749,472 JBrowse link
PSAT deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency OMIM
ClinVar		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chrNW_004624811:5,727,912...5,751,921
Ensembl chrNW_004624811:5,727,685...5,751,607 		JBrowse link
G G PSAT1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency OMIM
ClinVar		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr12:89,223,463...89,256,017
Ensembl chr12:89,223,526...89,256,022 		JBrowse link
G P PSAT1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency OMIM
ClinVar		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr 1:231,142,673...231,172,364
Ensembl chr 1:231,142,625...231,172,360 		JBrowse link
G S Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency OMIM
ClinVar		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chrNW_004936632:4,392,165...4,422,670
Ensembl chrNW_004936632:4,391,459...4,423,264 		JBrowse link
G D PSAT1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency OMIM
ClinVar		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162 		JBrowse link
G B PSAT1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency OMIM
ClinVar		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439 		JBrowse link
G C Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency OMIM
ClinVar		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chrNW_004955512:1,132,452...1,155,405
Ensembl chrNW_004955512:1,132,390...1,155,412 		JBrowse link
G R Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr 1:222,623,553...222,646,187
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G M Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr19:15,882,487...15,902,423
Ensembl chr19:15,882,042...15,924,701 		JBrowse link
G H PSAT1 phosphoserine aminotransferase 1 IAGP
EXP		 ClinVar Annotator: match by term: PSAT deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093 		JBrowse link
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Brat1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More... NCBI chrNW_004624740:30,282,829...30,296,748
Ensembl chrNW_004624740:30,284,652...30,296,771 		JBrowse link
G G BRAT1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More... NCBI chr28:18,945,857...18,964,077
Ensembl chr28:18,946,072...18,961,182 		JBrowse link
G P BRAT1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More... NCBI chr 3:1,905,648...1,918,229
Ensembl chr 3:1,905,656...1,918,227 		JBrowse link
G S Brat1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More... NCBI chrNW_004936823:393,878...404,348
Ensembl chrNW_004936823:393,842...404,366 		JBrowse link
G D BRAT1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More...
G B BRAT1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More... NCBI chr 7:2,797,551...2,815,847
Ensembl chr 7:2,892,302...2,910,143 		JBrowse link
G C Brat1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More... NCBI chrNW_004955460:12,662,005...12,674,223
Ensembl chrNW_004955460:12,662,779...12,673,287 		JBrowse link
G R Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More... NCBI chr12:19,043,004...19,065,686
Ensembl chr12:13,928,898...13,941,248 		JBrowse link
G M Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More... NCBI chr 5:140,688,222...140,705,134
Ensembl chr 5:140,690,766...140,705,134 		JBrowse link
G H BRAT1 BRCA1 associated ATM activator 1 IAGP ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More... NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G N Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chrNW_004624740:30,392,342...30,404,003
Ensembl chrNW_004624740:30,392,079...30,404,068 		JBrowse link
G G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chr28:19,084,527...19,092,305 JBrowse link
G P LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chr 3:1,721,044...1,819,426
Ensembl chr 3:1,810,892...1,820,048 		JBrowse link
G S Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chrNW_004936823:283,207...290,970
Ensembl chrNW_004936823:283,205...290,986 		JBrowse link
G D LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chr 6:14,631,638...14,640,147
Ensembl chr 6:14,632,691...14,635,485 		JBrowse link
G B LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chr 7:2,781,493...2,790,936 JBrowse link
G C Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chrNW_004955460:12,773,975...12,784,512
Ensembl chrNW_004955460:12,773,975...12,784,512 		JBrowse link
G R Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chr12:19,144,474...19,152,951
Ensembl chr12:14,018,333...14,039,008 		JBrowse link
G M Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chr 5:140,593,096...140,601,300
Ensembl chr 5:140,593,075...140,601,300 		JBrowse link
G H LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G B MVP-DT MVP divergent transcript ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832
G H MVP-DT MVP divergent transcript IAGP ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252 		JBrowse link
G N Pagr1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chrNW_004624782:13,387,155...13,390,153
Ensembl chrNW_004624782:13,387,376...13,389,740 		JBrowse link
G G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chr 5:26,833,333...26,837,655
Ensembl chr 5:26,833,675...26,837,640 		JBrowse link
G P PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chr 3:18,052,679...18,056,920
Ensembl chr 3:18,052,935...18,056,837 		JBrowse link
G S Pagr1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chrNW_004936501:12,657,092...12,660,106
Ensembl chrNW_004936501:12,656,435...12,660,067 		JBrowse link
G D PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chr 6:17,876,740...17,879,546 JBrowse link
G B PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 Ensembl chr16:30,186,326...30,190,654 JBrowse link
G C Pagr1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chrNW_004955493:7,142,048...7,144,836
Ensembl chrNW_004955493:7,142,272...7,144,389 		JBrowse link
G R Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chr 1:191,053,228...191,055,554 JBrowse link
G H PAGR1 PAXIP1 associated glutamate rich protein 1 IAGP ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chr16:29,816,152...29,822,489
Ensembl chr16:29,816,152...29,822,489 		JBrowse link
G M Pagr1a PAXIP1 associated glutamate rich protein 1A ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chr 7:126,614,223...126,616,524
Ensembl chr 7:126,614,205...126,616,524
Ensembl chr 7:126,614,205...126,616,524 		JBrowse link
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC130059279 ATAC-STARR-seq lymphoblastoid active region 11013 IAGP ClinVar Annotator: match by term: PRMT7-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr16:68,356,592...68,356,751 JBrowse link
G N Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures OMIM
ClinVar		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chrNW_004624746:17,949,443...18,017,344
Ensembl chrNW_004624746:17,948,085...18,001,259 		JBrowse link
G G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures OMIM
ClinVar		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chr 5:59,058,827...59,106,177
Ensembl chr 5:59,058,846...59,106,106 		JBrowse link
G P PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures OMIM
ClinVar		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chr 6:28,883,148...28,945,904
Ensembl chr 6:28,883,646...28,945,905 		JBrowse link
G S Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures OMIM
ClinVar		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chrNW_004936475:18,632,022...18,667,515
Ensembl chrNW_004936475:18,632,052...18,672,247 		JBrowse link
G D PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures OMIM
ClinVar		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chr 5:81,172,085...81,216,708
Ensembl chr 5:81,173,147...81,216,669 		JBrowse link
G B PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures OMIM
ClinVar		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chr16:48,687,324...48,734,883
Ensembl chr16:68,086,620...68,127,953 		JBrowse link
G C Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures OMIM
ClinVar		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chrNW_004955484:8,299,427...8,352,465
Ensembl chrNW_004955484:8,299,427...8,340,287 		JBrowse link
G R Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures OMIM
ClinVar		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chr19:51,020,596...51,071,401
Ensembl chr19:34,110,747...34,162,577 		JBrowse link
G M Prmt7 protein arginine N-methyltransferase 7 ISO ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures OMIM
ClinVar		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426 		JBrowse link
G H PRMT7 protein arginine methyltransferase 7 IAGP ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures
ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures		 ClinVar
OMIM		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
Smith-Kingsmore Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259 		JBrowse link
G G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020 		JBrowse link
G P MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G S Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342 		JBrowse link
G D MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114 		JBrowse link
G B MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841 		JBrowse link
G C Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694 		JBrowse link
G R Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G M Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G H MTOR mechanistic target of rapamycin kinase IAGP ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome
ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome
ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related		 OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G H MTOR-AS1 MTOR antisense RNA 1 IAGP ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:11,143,898...11,149,538
Ensembl chr 1:11,143,898...11,149,537 		JBrowse link
G N Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610 		JBrowse link
G G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519 		JBrowse link
G P PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609 		JBrowse link
G S Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537 		JBrowse link
G D PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970 		JBrowse link
G B PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960 		JBrowse link
G C Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820 		JBrowse link
G R Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G M Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		JBrowse link
G H PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G N Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chrNW_004624908:1,513,916...1,523,723
Ensembl chrNW_004624908:1,513,969...1,523,295 		JBrowse link
G G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 6:16,620,673...16,637,511
Ensembl chr 6:16,621,606...16,636,937 		JBrowse link
G P PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 2:59,637,363...59,652,075
Ensembl chr 2:59,637,371...59,652,073 		JBrowse link
G S Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chrNW_004936596:3,010,526...3,021,848
Ensembl chrNW_004936596:3,010,488...3,021,920 		JBrowse link
G D PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr20:44,826,037...44,838,449
Ensembl chr20:44,826,339...44,836,558 		JBrowse link
G B PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177 		JBrowse link
G C Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chrNW_004955524:3,234,111...3,241,445
Ensembl chrNW_004955524:3,234,111...3,241,173 		JBrowse link
G R Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr16:18,699,389...18,708,045
Ensembl chr16:18,665,457...18,674,065 		JBrowse link
G M Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 8:71,220,820...71,229,356
Ensembl chr 8:71,220,820...71,229,357 		JBrowse link
G H PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540 		JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome OMIM
ClinVar		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chrNW_004624829:608,065...637,096
Ensembl chrNW_004624829:608,065...634,479 		JBrowse link
G G AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome OMIM
ClinVar		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:14,283,175...14,310,453 JBrowse link
G P AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome OMIM
ClinVar		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:12,367,785...12,397,672
Ensembl chr  X:12,367,795...12,397,677 		JBrowse link
G S Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome OMIM
ClinVar		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chrNW_004936470:5,260,984...5,301,552
Ensembl chrNW_004936470:5,257,542...5,289,469 		JBrowse link
G D AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome OMIM
ClinVar		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:12,075,797...12,105,911
Ensembl chr  X:12,076,724...12,103,654 		JBrowse link
G B AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome OMIM
ClinVar		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:8,449,885...8,478,932
Ensembl chr  X:15,807,476...15,836,172 		JBrowse link
G C Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome OMIM
ClinVar		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chrNW_004955519:2,351,754...2,370,650 JBrowse link
G R Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO
ISS		 ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome
OMIM:304340
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:34,204,601...34,230,819
Ensembl chr  X:30,572,751...30,597,262 		JBrowse link
G M Ap1s2 adaptor-related protein complex 1, sigma 2 subunit ISO
IAGP		 ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome
OMIM:304340
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:162,691,427...162,716,662
Ensembl chr  X:162,692,013...162,716,662 		JBrowse link
G H AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Pettigrew syndrome
ClinVar Annotator: match by term: AP1S2-related condition
OMIM:304340
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G N Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chrNW_004624931:431,835...568,609 JBrowse link
G G CUL4B cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868
G P CUL4B cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:98,668,945...98,730,582
Ensembl chr  X:98,668,953...98,730,565 		JBrowse link
G S Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chrNW_004936479:9,490,717...9,535,998
Ensembl chrNW_004936479:9,479,133...9,534,262 		JBrowse link
G D CUL4B cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:92,489,981...92,538,199
Ensembl chr  X:92,491,114...92,537,672 		JBrowse link
G B CUL4B cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:109,798,279...109,870,469
Ensembl chr  X:119,985,116...120,034,702 		JBrowse link
G C Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chrNW_004955572:1,308,491...1,365,147 JBrowse link
G R Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:122,154,332...122,192,299
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
G M Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:37,620,493...37,665,073
Ensembl chr  X:37,622,151...37,665,073 		JBrowse link
G H CUL4B cullin 4B IAGP ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
White-Sutton syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452 		JBrowse link
G G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115 		JBrowse link
G P GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		JBrowse link
G S Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213 		JBrowse link
G D GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658 		JBrowse link
G B GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		JBrowse link
G C Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499 		JBrowse link
G R Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G M Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
G H GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G N Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:18,961,395...19,238,760
Ensembl chrNW_004624740:18,975,596...19,235,900 		JBrowse link
G G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr21:16,386,700...16,665,648
Ensembl chr21:16,549,789...16,662,238 		JBrowse link
G P GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G S Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011 		JBrowse link
G D GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132 		JBrowse link
G B GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865 		JBrowse link
G C Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918 		JBrowse link
G R Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G M Gli3 GLI-Kruppel family member GLI3 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611 		JBrowse link
G H GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G N Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition OMIM
ClinVar		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chrNW_004624772:19,127,702...19,184,151
Ensembl chrNW_004624772:19,127,702...19,184,048 		JBrowse link
G G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition OMIM
ClinVar		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chr20:12,236,036...12,290,937
Ensembl chr20:12,236,145...12,290,956 		JBrowse link
G P POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition OMIM
ClinVar		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chr 4:97,776,579...97,833,287
Ensembl chr 4:97,776,589...97,833,282 		JBrowse link
G S Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition OMIM
ClinVar		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chrNW_004936580:1,613,425...1,650,849
Ensembl chrNW_004936580:1,615,713...1,650,874 		JBrowse link
G D POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition OMIM
ClinVar		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chr17:60,464,609...60,511,735
Ensembl chr17:60,465,230...60,511,934 		JBrowse link
G B POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition OMIM
ClinVar		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chr 1:126,761,777...126,818,262
Ensembl chr 1:130,407,426...130,463,909 		JBrowse link
G C Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition OMIM
ClinVar		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chrNW_004955589:920,729...975,242
Ensembl chrNW_004955589:920,508...976,366 		JBrowse link
G R Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition OMIM
ClinVar		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chr 2:185,069,492...185,129,741
Ensembl chr 2:182,380,768...182,440,707 		JBrowse link
G M Pogz pogo transposable element with ZNF domain ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition OMIM
ClinVar		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chr 3:94,730,289...94,790,888
Ensembl chr 3:94,744,878...94,789,637 		JBrowse link
G H POGZ pogo transposable element derived with ZNF domain IAGP ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition		 OMIM
ClinVar		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
X-linked mental retardation Gustavson type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Rbmx RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004624808:10,176,695...10,185,847
Ensembl chrNW_004624808:10,176,293...10,182,079 		JBrowse link
G G RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked OMIM
ClinVar		 PMID:25741868 NCBI chr  X:111,880,859...111,892,660 JBrowse link
G P RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked OMIM
ClinVar		 PMID:25741868 NCBI chr  X:111,965,859...111,974,544
Ensembl chr  X:111,962,633...111,974,472 		JBrowse link
G S Rbmx RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004936513:10,429,862...10,442,509
Ensembl chrNW_004936513:10,429,824...10,437,108 		JBrowse link
G D RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked OMIM
ClinVar		 PMID:25741868 NCBI chr  X:107,173,599...107,182,404
Ensembl chr  X:107,175,634...107,182,347 		JBrowse link
G B RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked OMIM
ClinVar		 PMID:25741868 NCBI chr  X:125,997,989...126,009,525
Ensembl chr  X:136,264,406...136,275,360 		JBrowse link
G C Rbmx RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004955489:8,280,842...8,286,252
Ensembl chrNW_004955489:8,280,794...8,286,252 		JBrowse link
G R Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr  X:140,342,544...140,352,121
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G M Rbmx RNA binding motif protein, X chromosome ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr  X:56,428,708...56,438,405
Ensembl chr  X:56,428,890...56,438,396 		JBrowse link
G H RBMX RNA binding motif protein X-linked IAGP
EXP		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          visual epilepsy 1955
            Adams Nance Syndrome 0
            Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 0
            Baraitser Rodeck Garner syndrome 0
            Cerebroretinal Microangiopathy with Calcifications and Cysts + 40
            Copper Deficiency, Familial Benign 0
            Dyskinesias, Seizures, and Intellectual Developmental Disorder 11
            Dysmyelination with Jaundice 0
            EAST syndrome 40
            Familial Convulsive Disorder with Prenatal or Early Onset 0
            Familial Infantile Convulsions and Paroxysmal Choreoathetosis 24
            Hyper-Beta-Alaninemia 0
            Hyperleucine-Isoleucinemia 0
            Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 0
            Methionine Malabsorption Syndrome 0
            Microcephaly Seizures Genital Hypoplasia 0
            Microcephaly Seizures Mental Retardation Heart Disorders 0
            Microcephaly Sparse Hair Mental Retardation Seizures 0
            Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 11
            Muller Barth Menger Syndrome 0
            NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 30
            Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 20
            Occipital Cortical Malformations 11
            PHGDH deficiency 97
            PSAT deficiency 10
            Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 10
            Partington syndrome 11
            Perniola Krajewska Carnevale Syndrome 0
            Primary Aldosteronism, Seizures, and Neurologic Abnormalities 11
            Qazi Markouizos syndrome 0
            Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 32
            Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 11
            Smith-Kingsmore Syndrome 31
            Tranebjaerg Svejgaard syndrome 0
            White-Sutton syndrome 30
            X-linked mental retardation Gustavson type 10
            autosomal dominant intellectual developmental disorder 6 338
            chromosome 15q13.3 microdeletion syndrome 84
            craniosynostosis 2 10
            hypermethioninemia due to adenosine kinase deficiency 11
            hypoparathyroidism-retardation-dysmorphism syndrome 21
            infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 22
            microcephaly, seizures, and developmental delay 20
            multiple congenital anomalies-hypotonia-seizures syndrome + 333
            myoclonic-atonic epilepsy 518
            optic atrophy 10 10
            syndromic X-linked intellectual disability 5 20
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              visual pathway disease 1997
                visual cortex disease 1967
                  visual epilepsy 1955
                    Adams Nance Syndrome 0
                    Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 0
                    Baraitser Rodeck Garner syndrome 0
                    Cerebroretinal Microangiopathy with Calcifications and Cysts + 40
                    Copper Deficiency, Familial Benign 0
                    Dyskinesias, Seizures, and Intellectual Developmental Disorder 11
                    Dysmyelination with Jaundice 0
                    EAST syndrome 40
                    Familial Convulsive Disorder with Prenatal or Early Onset 0
                    Familial Infantile Convulsions and Paroxysmal Choreoathetosis 24
                    Hyper-Beta-Alaninemia 0
                    Hyperleucine-Isoleucinemia 0
                    Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 0
                    Methionine Malabsorption Syndrome 0
                    Microcephaly Seizures Genital Hypoplasia 0
                    Microcephaly Seizures Mental Retardation Heart Disorders 0
                    Microcephaly Sparse Hair Mental Retardation Seizures 0
                    Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 11
                    Muller Barth Menger Syndrome 0
                    NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 30
                    Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 20
                    Occipital Cortical Malformations 11
                    PHGDH deficiency 97
                    PSAT deficiency 10
                    Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 10
                    Partington syndrome 11
                    Perniola Krajewska Carnevale Syndrome 0
                    Primary Aldosteronism, Seizures, and Neurologic Abnormalities 11
                    Qazi Markouizos syndrome 0
                    Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 32
                    Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 11
                    Smith-Kingsmore Syndrome 31
                    Tranebjaerg Svejgaard syndrome 0
                    White-Sutton syndrome 30
                    X-linked mental retardation Gustavson type 10
                    autosomal dominant intellectual developmental disorder 6 338
                    chromosome 15q13.3 microdeletion syndrome 84
                    craniosynostosis 2 10
                    hypermethioninemia due to adenosine kinase deficiency 11
                    hypoparathyroidism-retardation-dysmorphism syndrome 21
                    infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 22
                    microcephaly, seizures, and developmental delay 20
                    multiple congenital anomalies-hypotonia-seizures syndrome + 333
                    myoclonic-atonic epilepsy 518
                    optic atrophy 10 10
                    syndromic X-linked intellectual disability 5 20
paths to the root