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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:Polymicrogyria
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Accession:DOID:9004861 term browser browse the term
Definition:Heterogeneous disorders of cortical malformation characterized by excessive and small fused gyri and shallow sulci of the CORTEX with abnormal cortical lamination. It is considered a malformation secondary to abnormal post-migrational development of the neurons during cerebral cortical development and is associated with EPILEPSY and learning difficulties.
Synonyms:exact_synonym: Cerebral Micropolygyria;   Cerebral Micropolygyrias;   Cerebral Polymicrogyria;   Cerebral Polymicrogyrias;   Micropolygyria;   Micropolygyrias;   Polymicrogyrias
 primary_id: MESH:D065706;   RDO:0015982
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.
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Polymicrogyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G V ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 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: Polymicrogyria ClinVar PMID:25741868 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,291,344...90,396,160 		JBrowse link
G S Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chrNW_004936740:489,357...514,235 JBrowse link
G B ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 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: Polymicrogyria ClinVar PMID:25741868 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: Polymicrogyria ClinVar PMID:25741868 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629 		JBrowse link
G M Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chr 1:172,271,709...172,298,064
Ensembl chr 1:172,271,709...172,298,064 		JBrowse link
G H ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 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: Polymicrogyria ClinVar PMID:25741868 NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604 		JBrowse link
G M Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chrNW_004624747:24,054,577...24,075,011 JBrowse link
G V DHX37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chr11:120,304,767...120,347,439
Ensembl chr11:120,304,314...120,347,227 		JBrowse link
G P DHX37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chr14:28,206,152...28,242,436
Ensembl chr14:28,206,160...28,243,427 		JBrowse link
G S Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chrNW_004936558:418,998...441,637 JBrowse link
G D DHX37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chr26:4,964,038...4,993,932
Ensembl chr26:4,964,088...4,993,930 		JBrowse link
G B DHX37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chr12:122,539,236...122,582,819
Ensembl chr12:126,823,006...126,865,933 		JBrowse link
G C Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chrNW_004955482:4,733,720...4,754,754
Ensembl chrNW_004955482:4,731,675...4,756,632 		JBrowse link
G R Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chr12:36,594,058...36,614,165
Ensembl chr12:36,594,047...36,614,210 		JBrowse link
G M Dhx37 DEAH (Asp-Glu-Ala-His) box polypeptide 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chr 5:125,413,747...125,434,139
Ensembl chr 5:125,413,858...125,434,121 		JBrowse link
G H DHX37 DEAH-box helicase 37 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chr12:124,946,824...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G M Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chrNW_004624753:3,194,678...3,794,145 JBrowse link
G V LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chr13:44,074,128...44,688,187
Ensembl chr13:44,073,525...44,531,889 		JBrowse link
G P LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,867,639...34,359,698 		JBrowse link
G S Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chrNW_004936639:259,662...825,170 JBrowse link
G D LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914 		JBrowse link
G B LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337 		JBrowse link
G C Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chrNW_004955436:9,829,777...10,400,101
Ensembl chrNW_004955436:9,830,030...10,399,891 		JBrowse link
G R Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269 		JBrowse link
G M Lama2 laminin, alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chr10:26,981,285...27,617,191
Ensembl chr10:26,980,036...27,619,758 		JBrowse link
G H LAMA2 laminin subunit alpha 2 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G M Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chrNW_004624741:28,156,956...28,217,133 JBrowse link
G V LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr 2:1,872,740...1,930,037
Ensembl chr 2:1,872,832...1,929,854 		JBrowse link
G P LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr17:61,698,370...61,747,795 JBrowse link
G S Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chrNW_004936514:9,928,234...9,973,425 JBrowse link
G D LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr24:46,315,008...46,351,279 JBrowse link
G B LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765 		JBrowse link
G C Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chrNW_004955528:1,713,110...1,753,374
Ensembl chrNW_004955528:1,713,125...1,753,116 		JBrowse link
G R Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127 		JBrowse link
G M Lama5 laminin, alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr 2:180,176,373...180,225,904
Ensembl chr 2:180,176,373...180,225,859 		JBrowse link
G H LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr20:62,309,060...62,367,318
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G M Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chrNW_004624772:19,470,853...19,474,959 JBrowse link
G V LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr20:11,881,186...11,886,931
Ensembl chr20:11,884,472...11,886,253 		JBrowse link
G P LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 4:97,399,660...97,415,720
Ensembl chr 4:97,400,876...97,406,473 		JBrowse link
G S Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chrNW_004936580:1,991,218...1,993,210 JBrowse link
G D LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr17:60,814,948...60,820,517
Ensembl chr17:60,815,499...60,817,448 		JBrowse link
G B LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 1:127,154,152...127,164,591
Ensembl chr 1:130,803,557...130,805,338 		JBrowse link
G C Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chrNW_004955589:618,959...623,915
Ensembl chrNW_004955589:618,998...623,239 		JBrowse link
G R Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 2:195,617,044...195,643,502
Ensembl chr 2:195,617,044...195,643,502 		JBrowse link
G M Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 3:94,399,219...94,404,501
Ensembl chr 3:94,398,517...94,404,501 		JBrowse link
G H LINGO4 leucine rich repeat and Ig domain containing 4 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 1:151,800,264...151,805,419
Ensembl chr 1:151,800,264...151,806,154
Ensembl chr 1:151,800,264...151,806,154 		JBrowse link
G M Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chrNW_004624732:222,657...330,959 JBrowse link
G V SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chr10:50,563,560...50,679,179
Ensembl chr10:50,563,568...50,637,179 		JBrowse link
G P SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160 		JBrowse link
G S Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chrNW_004936469:14,072,182...14,180,552 JBrowse link
G D SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chr36:10,300,091...10,405,361
Ensembl chr36:10,302,191...10,377,923 		JBrowse link
G B SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590 		JBrowse link
G C Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chrNW_004955449:8,896,454...9,009,304
Ensembl chrNW_004955449:8,896,454...9,009,304 		JBrowse link
G R Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140 		JBrowse link
G M Scn3a sodium channel, voltage-gated, type III, alpha ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chr 2:65,457,118...65,567,591
Ensembl chr 2:65,457,118...65,567,627 		JBrowse link
G H SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chr 2:165,087,526...165,204,295
Ensembl chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G M Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chrNW_004624731:4,098,137...4,170,889 JBrowse link
G V SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217 		JBrowse link
G P SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,954...65,850,531 		JBrowse link
G S Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chrNW_004936602:3,577,543...3,654,179 JBrowse link
G D SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674 		JBrowse link
G B SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306 		JBrowse link
G C Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691 		JBrowse link
G R Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr 4:145,017,549...145,095,247
Ensembl chr 4:145,017,608...145,095,245 		JBrowse link
G M Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr 6:113,077,262...113,153,432
Ensembl chr 6:113,077,365...113,153,435 		JBrowse link
G H SETD5 SET domain containing 5 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G M Wdr62 WD repeat domain 62 ISO DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chrNW_004624794:10,309,855...10,358,018 JBrowse link
G V WDR62 WD repeat domain 62 ISO DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chr 6:30,964,219...31,010,692
Ensembl chr 6:30,964,319...31,011,403 		JBrowse link
G P WDR62 WD repeat domain 62 ISO DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chr 6:45,418,966...45,477,619
Ensembl chr 6:45,419,041...45,474,050 		JBrowse link
G S Wdr62 WD repeat domain 62 ISO DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chrNW_004936922:80,136...119,702 JBrowse link
G D WDR62 WD repeat domain 62 ISO DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chr 1:116,594,243...116,641,206
Ensembl chr 1:116,594,244...116,641,191 		JBrowse link
G B WDR62 WD repeat domain 62 ISO DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038 		JBrowse link
G C Wdr62 WD repeat domain 62 ISO DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chrNW_004955468:2,504,181...2,545,982
Ensembl chrNW_004955468:2,503,885...2,545,255 		JBrowse link
G R Wdr62 WD repeat domain 62 ISO DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223 		JBrowse link
G M Wdr62 WD repeat domain 62 ISO DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chr 7:30,240,138...30,281,908
Ensembl chr 7:30,240,138...30,280,419 		JBrowse link
G H WDR62 WD repeat domain 62 IAGP DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chr19:36,054,881...36,111,145
Ensembl chr19:36,054,881...36,105,108
Ensembl chr19:36,054,881...36,105,108 		JBrowse link
Asymmetric Polymicrogyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D LOC478702 tubulin beta-2B chain ISO ClinVar Annotator: match by term: Polymicrogyria, asymmetric ClinVar PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 PMID:23001566 PMID:25059107 PMID:25741868 PMID:26732629 PMID:29671837 NCBI chr35:3,494,982...3,498,274
Ensembl chr35:3,495,277...3,498,248 		JBrowse link
G R Tubb2b tubulin, beta 2B class IIb ISO ClinVar Annotator: match by term: Polymicrogyria, asymmetric ClinVar PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 PMID:23001566 PMID:25059107 PMID:25741868 PMID:26732629 PMID:29671837 NCBI chr17:31,441,640...31,444,687
Ensembl chr17:31,441,630...31,482,759 		JBrowse link
G M Tubb2b tubulin, beta 2B class IIB ISO ClinVar Annotator: match by term: Polymicrogyria, asymmetric ClinVar PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 PMID:23001566 PMID:25059107 PMID:25741868 PMID:26732629 PMID:29671837 NCBI chr13:34,127,008...34,130,354
Ensembl chr13:34,126,748...34,130,466 		JBrowse link
G H TUBB2B tubulin beta 2B class IIb IAGP ClinVar Annotator: match by term: Polymicrogyria, asymmetric ClinVar PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 PMID:23001566 PMID:25059107 PMID:25741868 PMID:26732629 PMID:29671837 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,224,277...3,231,730
Ensembl chr 6:3,224,277...3,231,730 		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 M Rttn rotatin ISO OMIM NCBI chrNW_004624806:11,058,138...11,266,639 JBrowse link
G V RTTN rotatin ISO OMIM NCBI chr18:9,574,647...9,770,940
Ensembl chr18:9,575,159...9,772,596 		JBrowse link
G P RTTN rotatin ISO OMIM NCBI chr 1:152,688,305...152,833,969
Ensembl chr 1:152,689,504...152,892,975 		JBrowse link
G S Rttn rotatin ISO OMIM NCBI chrNW_004936964:1,369...71,142 JBrowse link
G D RTTN rotatin ISO OMIM 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 OMIM NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104 		JBrowse link
G C Rttn rotatin ISO OMIM 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: Polymicrogyria with seizures
ClinVar Annotator: match by OMIM:614833		 OMIM
ClinVar		 PMID:22939636 PMID:25326635 PMID:25741868 PMID:26608784 PMID:26940245 PMID:28492532 PMID:30121372 NCBI chr18:86,071,884...86,247,486
Ensembl chr18:86,071,662...86,247,486 		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 OMIM:614833
ClinVar Annotator: match by term: Polymicrogyria with seizures		 OMIM
ClinVar		 PMID:22939636 PMID:25326635 PMID:25741868 PMID:26608784 PMID:26940245 PMID:28492532 PMID:30121372 NCBI chr18:88,971,736...89,131,014
Ensembl chr18:88,971,790...89,131,016 		JBrowse link
G H RTTN rotatin IAGP ClinVar Annotator: match by term: Polymicrogyria with seizures
ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures
ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES		 ClinVar
OMIM		 PMID:22939636 PMID:25326635 PMID:25741868 PMID:26608784 PMID:26940245 PMID:28492532 PMID:30121372 NCBI chr18:70,003,031...70,205,726
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
Perisylvian Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Adgrg1 adhesion G protein-coupled receptor G1 ISO OMIM NCBI chrNW_004624746:28,439,855...28,476,551 JBrowse link
G V ADGRG1 adhesion G protein-coupled receptor G1 ISO OMIM NCBI chr 5:43,559,792...43,595,906
Ensembl chr 5:43,570,189...43,596,087 		JBrowse link
G P ADGRG1 adhesion G protein-coupled receptor G1 ISO OMIM NCBI chr 6:19,523,618...19,570,891
Ensembl chr 6:19,527,648...19,570,893 		JBrowse link
G S Adgrg1 adhesion G protein-coupled receptor G1 ISO OMIM NCBI chrNW_004936475:9,653,233...9,683,258 JBrowse link
G D ADGRG1 adhesion G protein-coupled receptor G1 ISO OMIM NCBI chr 2:58,805,737...58,842,618
Ensembl chr 2:58,805,834...58,852,684 		JBrowse link
G B ADGRG1 adhesion G protein-coupled receptor G1 ISO OMIM NCBI chr16:37,896,177...37,942,040
Ensembl chr16:57,036,425...57,074,221 		JBrowse link
G C Adgrg1 adhesion G protein-coupled receptor G1 ISO OMIM NCBI chrNW_004955433:15,253,196...15,288,982
Ensembl chrNW_004955433:15,259,720...15,289,151 		JBrowse link
G R Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive OMIM
ClinVar		 PMID:25741868 NCBI chr19:10,423,534...10,460,674
Ensembl chr19:10,423,501...10,460,674 		JBrowse link
G M Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive OMIM
ClinVar		 PMID:25741868 NCBI chr 8:94,974,756...95,014,208
Ensembl chr 8:94,974,751...95,014,217 		JBrowse link
G H ADGRG1 adhesion G protein-coupled receptor G1 IAGP ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive OMIM
ClinVar		 PMID:25741868 NCBI chr16:57,619,535...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G M Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chrNW_004624860:1,383,015...1,405,107 JBrowse link
G V CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr11:4,307,419...4,339,003
Ensembl chr11:4,307,401...4,333,661 		JBrowse link
G P CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G S Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chrNW_004936606:4,474,801...4,496,158 JBrowse link
G D CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255 		JBrowse link
G B CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551 		JBrowse link
G C Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chrNW_004955413:2,083,351...2,108,450
Ensembl chrNW_004955413:2,083,351...2,103,430 		JBrowse link
G R Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207 		JBrowse link
G M Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 6:127,125,162...127,152,188
Ensembl chr 6:127,125,162...127,152,193 		JBrowse link
G H CCND2 cyclin D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G S LOC101972766 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chrNW_004936512:6,959,656...6,964,299 JBrowse link
G V LOC103238261 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr11:45,419,046...45,423,574
Ensembl chr11:45,418,748...45,423,685 		JBrowse link
G D LOC610636 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr37:25,811,491...25,818,838 JBrowse link
G P TUBA1A tubulin alpha 1a ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,149,099...15,269,267 		JBrowse link
G R Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953 		JBrowse link
G M Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr15:98,949,847...98,953,501
Ensembl chr15:98,949,837...98,953,703 		JBrowse link
G H TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,795...49,189,080
Ensembl chr12:49,184,795...49,189,080 		JBrowse link
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Col3a1 collagen type III alpha 1 chain ISO OMIM NCBI chrNW_004624899:1,192,078...1,230,528 JBrowse link
G V COL3A1 collagen type III alpha 1 chain ISO OMIM NCBI chr10:74,455,133...74,493,392 JBrowse link
G P COL3A1 collagen type III alpha 1 chain ISO OMIM NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815 		JBrowse link
G S Col3a1 collagen type III alpha 1 chain ISO OMIM NCBI chrNW_004936506:8,886,494...8,923,921 JBrowse link
G D COL3A1 collagen type III alpha 1 chain ISO OMIM NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765 		JBrowse link
G B COL3A1 collagen type III alpha 1 chain ISO OMIM NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956 		JBrowse link
G C Col3a1 collagen type III alpha 1 chain ISO OMIM NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G R Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome
ClinVar Annotator: match by term: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME		 OMIM
ClinVar		 PMID:9050868 PMID:11577371 PMID:19455184 PMID:25205403 PMID:25741868 PMID:25758994 PMID:28258187 PMID:28492532 PMID:28742248 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217 		JBrowse link
G M Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome
ClinVar Annotator: match by term: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME		 OMIM
ClinVar		 PMID:9050868 PMID:11577371 PMID:19455184 PMID:25205403 PMID:25741868 PMID:25758994 PMID:28258187 PMID:28492532 PMID:28742248 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706 		JBrowse link
G H COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome
ClinVar Annotator: match by term: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME		 OMIM
ClinVar		 PMID:9050868 PMID:11577371 PMID:19455184 PMID:25205403 PMID:25741868 PMID:25758994 PMID:28258187 PMID:28492532 PMID:28742248 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Pi4ka phosphatidylinositol 4-kinase alpha ISO OMIM NCBI chrNW_004624945:837,877...1,016,041 JBrowse link
G V PI4KA phosphatidylinositol 4-kinase alpha ISO OMIM NCBI chr19:4,648,184...4,797,573
Ensembl chr19:4,648,183...4,797,396 		JBrowse link
G P PI4KA phosphatidylinositol 4-kinase alpha ISO OMIM NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,408...50,491,950 		JBrowse link
G S Pi4ka phosphatidylinositol 4-kinase alpha ISO OMIM NCBI chrNW_004936619:2,240,641...2,377,088 JBrowse link
G D PI4KA phosphatidylinositol 4-kinase alpha ISO OMIM NCBI chr26:30,630,693...30,749,158
Ensembl chr26:30,630,261...30,749,126 		JBrowse link
G B PI4KA phosphatidylinositol 4-kinase alpha ISO OMIM NCBI chr22:2,931,523...3,082,475 JBrowse link
G C Pi4ka phosphatidylinositol 4-kinase alpha ISO OMIM NCBI chrNW_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725 		JBrowse link
G R Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM		 PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422 		JBrowse link
G M Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM		 PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 NCBI chr16:17,280,351...17,406,314
Ensembl chr16:17,280,351...17,406,314 		JBrowse link
G H PI4KA phosphatidylinositol 4-kinase alpha IAGP ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM		 PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 NCBI chr22:20,707,691...20,858,812
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 116979
    disease of anatomical entity 112926
      nervous system disease 90900
        Nervous System Malformations 11891
          complex cortical dysplasia with other brain malformations 9289
            Malformations of Cortical Development, Group III 166
              Polymicrogyria 114
                Asymmetric Polymicrogyria 4
                Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 8
                Perisylvian Syndrome + 30
                Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 8
Path 2
Term Annotations click to browse term
  disease 116979
    Developmental Disease 83056
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 68997
        genetic disease 65376
          monogenic disease 49994
            autosomal genetic disease 43374
              autosomal dominant disease 70285
                complex cortical dysplasia with other brain malformations 9289
                  Malformations of Cortical Development, Group III 166
                    Polymicrogyria 114
                      Asymmetric Polymicrogyria 4
                      Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 8
                      Perisylvian Syndrome + 30
                      Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 8
paths to the root