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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:Malformations of Cortical Development, Group II
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Accession:DOID:9004667 term browser browse the term
Definition:Cortical malformations secondary to abnormal neuronal CELL MIGRATION in NEUROGENESIS. This group includes COBBLESTONE LISSENCEPHALY and PERIVENTRICULAR NODULAR HETEROTOPIA.
Synonyms:exact_synonym: Cortical Malformations, Group II;   Malformations Due to Abnormal Neuronal Migration;   Malformations Secondary to Abnormal Neuronal Migration;   Neuronal Migration Disorder;   Neuronal Migration Disorders
 primary_id: MESH:D054081;   RDO:0007654
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Malformations of Cortical Development, Group II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm2 acyl-CoA synthetase medium-chain family member 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:189,289,957...189,329,007
Ensembl chr 1:189,289,957...189,395,276 		JBrowse link
G Adam19 ADAM metallopeptidase domain 19 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:31,146,107...31,240,582
Ensembl chr10:31,146,107...31,240,582 		JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:137,335,273...137,380,219 JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:105,497,277...105,507,636
Ensembl chr  X:105,500,173...105,507,288 		JBrowse link
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr15:12,421,432...12,569,649
Ensembl chr15:12,425,175...12,513,931 		JBrowse link
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:106,556,838...106,558,366
Ensembl chr  X:106,556,838...106,558,366 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103 		JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:126,774,010...126,914,085
Ensembl chr 7:126,775,516...126,913,585 		JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:46,553,745...46,680,769
NCBI chr  X:46,701,342...46,767,826 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217 		JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:8195181 PMID:9093256 PMID:11763000 PMID:12012142 PMID:12172336 PMID:15168101 PMID:15205367 PMID:15590749 PMID:16024198 PMID:16044105 PMID:16772608 PMID:17625515 PMID:17697139 PMID:17900275 PMID:18004210 PMID:18323861 PMID:18346178 PMID:18394438 PMID:18482659 PMID:18532997 PMID:18577829 PMID:18781853 PMID:19106083 PMID:19106084 PMID:19108880 PMID:19193675 PMID:19268736 PMID:19444287 PMID:19463375 PMID:19531897 PMID:19576320 PMID:19624462 PMID:19706858 PMID:19926050 PMID:19934793 PMID:20351750 PMID:20492469 PMID:20510210 PMID:20531370 PMID:20620727 PMID:20650435 PMID:20708365 PMID:20724801 PMID:20801494 PMID:20801498 PMID:20833683 PMID:20845077 PMID:20924183 PMID:20979470 PMID:21099121 PMID:21163112 PMID:21168310 PMID:21178986 PMID:21192344 PMID:21392617 PMID:21426546 PMID:21474982 PMID:21527445 PMID:21628721 PMID:21689142 PMID:21700758 PMID:21786436 PMID:21806387 PMID:21831410 PMID:21881565 PMID:21918510 PMID:21972404 PMID:22028352 PMID:22088980 PMID:22190063 PMID:22228204 PMID:22285300 PMID:22427735 PMID:22462746 PMID:22624833 PMID:22940005 PMID:22990067 PMID:22992668 PMID:23364775 PMID:24353446 PMID:24710841 PMID:25730082 PMID:25860557 PMID:28589365 PMID:28806186 PMID:28914344 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007 		JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:84,924,570...85,484,150
Ensembl chr  X:85,338,928...85,483,719 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259 		JBrowse link
G Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 2:62,887,267...63,000,307
Ensembl chr 2:62,887,267...62,999,572 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:85,112,819...85,120,840
Ensembl chr 1:85,112,247...85,120,839 		JBrowse link
G Evpl envoplakin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:105,100,538...105,116,802
Ensembl chr10:105,100,336...105,116,916 		JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125 		JBrowse link
G Fam47a family with sequence similarity 47, member A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:45,965,258...45,966,930
Ensembl chr  X:45,965,301...45,966,934 		JBrowse link
G Filip1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:87,257,312...87,453,432
Ensembl chr 8:87,256,264...87,419,564 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 PMID:30311386 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:111,689,587...111,778,943 JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:70,563,381...70,572,295
Ensembl chr  X:70,563,570...70,572,295 		JBrowse link
G Grid1 glutamate ionotropic receptor delta type subunit 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr16:11,170,831...11,932,197
Ensembl chr16:11,599,753...11,932,324 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:243,201,073...243,398,531
Ensembl chr 1:243,276,403...243,398,536 		JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:72,750,174...72,766,307
Ensembl chr 8:72,750,171...72,766,389 		JBrowse link
G LOC100364500 RT1 class I, locus CE11-like ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120 		JBrowse link
G LOC684932 similar to Zinc finger protein 75 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:72,906,565...72,912,322 JBrowse link
G Lrrc66 leucine rich repeat containing 66 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr14:37,128,715...37,153,890
Ensembl chr14:37,130,743...37,153,898 		JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563 		JBrowse link
G Meis3 Meis homeobox 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:78,065,617...78,079,698
Ensembl chr 1:78,068,931...78,079,862 		JBrowse link
G Mettl1 methyltransferase like 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:70,328,470...70,333,045
Ensembl chr 7:70,328,391...70,333,166 		JBrowse link
G Mroh2a maestro heat-like repeat family member 2A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 9:95,308,142...95,346,577
Ensembl chr 9:95,309,759...95,347,384 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:18,438,838...18,639,777 JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:73,997,274...73,999,677 JBrowse link
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:95,059,334...95,062,132
Ensembl chr  X:95,059,337...95,062,132 		JBrowse link
G Nxpe3 neurexophilin and PC-esterase domain family, member 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr11:47,188,332...47,238,372
Ensembl chr11:47,188,495...47,238,372 		JBrowse link
G Parp14 poly (ADP-ribose) polymerase family, member 14 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr11:68,105,442...68,137,509
Ensembl chr11:68,105,369...68,137,535 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:35,970,650...36,926,616 JBrowse link
G Pi4k2b phosphatidylinositol 4-kinase type 2 beta ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr14:60,567,968...60,594,821
Ensembl chr14:60,567,967...60,594,844 		JBrowse link
G Pla2g4e phospholipase A2, group IVE ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 3:111,952,396...112,018,470
Ensembl chr 3:111,952,348...111,994,337 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:85,386,492...85,399,699
Ensembl chr 1:85,386,470...85,399,699 		JBrowse link
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:45,519,406...45,522,988
Ensembl chr  X:45,519,228...45,522,665 		JBrowse link
G Prr12 proline rich 12 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:101,022,373...101,046,228
Ensembl chr 1:101,023,106...101,046,208 		JBrowse link
G Ptprt protein tyrosine phosphatase, receptor type, T ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 3:157,537,192...158,328,984
Ensembl chr 3:157,544,583...158,328,881 		JBrowse link
G Rbmx2 RNA binding motif protein, X-linked 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:135,550,931...135,558,440
Ensembl chr  X:135,550,834...135,558,440 		JBrowse link
G Rfx1 regulatory factor X1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr19:25,181,564...25,212,410
Ensembl chr19:25,181,564...25,212,410 		JBrowse link
G Slc13a1 solute carrier family 13 member 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 4:51,121,784...51,199,477
Ensembl chr 4:51,121,123...51,199,570 		JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:14,963,919...14,972,675
Ensembl chr  X:14,963,921...14,972,675 		JBrowse link
G Stx7 syntaxin 7 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:26395554 NCBI chr 1:22,241,655...22,281,850
Ensembl chr 1:22,241,661...22,281,788 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:15,064,733...15,088,579
Ensembl chr  X:15,064,594...15,088,589 		JBrowse link
G Thada THADA, armadillo repeat containing ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:7,423,555...7,741,431
Ensembl chr 6:7,423,520...7,741,414 		JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446 		JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr11:71,348,726...71,388,520
Ensembl chr11:71,348,717...71,387,992 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:157,374,305...157,375,913
Ensembl chr  X:157,374,305...157,375,913 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:18414213 PMID:25741868 PMID:30744660 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953 		JBrowse link
G Tubgcp2 tubulin, gamma complex associated protein 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:31630790 NCBI chr 1:212,333,740...212,359,352
Ensembl chr 1:212,333,741...212,354,273 		JBrowse link
G Uri1 URI1, prefoldin-like chaperone ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:94,346,513...94,404,362
Ensembl chr 1:94,346,514...94,404,211 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223 		JBrowse link
G Zmat1 zinc finger, matrin-type 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:105,804,603...105,836,410
Ensembl chr  X:105,805,902...105,835,327 		JBrowse link
G Zscan2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:142,679,308...142,695,232
Ensembl chr 1:142,679,345...142,695,475 		JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISS
ISO		 OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome		 MouseDO
ClinVar		 PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 PMID:28492532 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841 		JBrowse link
G Actg1 actin, gamma 1 ISS OMIM:243310 | OMIM:614583 MouseDO NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954 		JBrowse link
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by OMIM:243310		 OMIM
ClinVar		 PMID:1415343 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:18414213 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29220674 PMID:29261186 PMID:32860008 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841 		JBrowse link
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2
ClinVar Annotator: match by OMIM:614583		 OMIM
ClinVar		 PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954 		JBrowse link
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
ClinVar Annotator: match by OMIM:300067		 OMIM
ClinVar		 PMID:9489699 PMID:9489700 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 PMID:29706646 PMID:32238909, PMID:11071144, PMID:12838518, PMID:27292316 RGD:12904735, RGD:12904728, RGD:11568595 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299 		JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
ClinVar Annotator: match by term: Type 1 lissencephaly
ClinVar Annotator: match by term: Lissencephaly classic		 ClinVar PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 PMID:11502906 PMID:12885786 PMID:14581661 PMID:15007136 PMID:17664403 PMID:18414213 PMID:19667223 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:27891766 PMID:32238909 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412 		JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26923585 PMID:27065010 PMID:28492532 PMID:30060766 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
ClinVar Annotator: match by term: Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14
ClinVar Annotator: match by OMIM:615350		 OMIM
ClinVar		 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30311386 PMID:30684953 PMID:31211170 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,646,905...55,689,223
Ensembl chr 6:55,648,021...55,689,218 		JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,586,754...55,647,650
Ensembl chr 6:55,586,346...55,647,665 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
ClinVar Annotator: match by term: ISPD-Related Disorder
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
ClinVar Annotator: match by OMIM:614643		 OMIM
ClinVar		 PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:10738921 PMID:18414213 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 PMID:24033266 PMID:24120487 PMID:25326635 PMID:25741868 PMID:26404900 PMID:26467025 PMID:27363342 PMID:28492532 PMID:28688748 PMID:28973083 PMID:29260090 PMID:29382405 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464 		JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,694,269...55,757,234
Ensembl chr 6:55,694,470...55,711,146 		JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,812,820...55,816,994
Ensembl chr 6:55,812,747...55,817,066 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar PMID:23877401 PMID:25558065 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193 		JBrowse link
G Fkrp fukutin related protein ISO
ISS		 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670		 ClinVar
MouseDO		 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27848944 PMID:28454995 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30311386 PMID:30564623 PMID:31041397 PMID:31671740 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107 		JBrowse link
G Fktn fukutin ISO
ISS		 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670		 ClinVar
MouseDO		 PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26923585 PMID:27065010 PMID:28492532 PMID:28785732 PMID:30060766 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:236670 MouseDO NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED		 ClinVar
OMIM		 PMID:11320179 PMID:12369018 PMID:15037715 PMID:15637732 PMID:16575835 PMID:17559086 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18752264 PMID:19222032 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25326635 PMID:25741868 PMID:28116189 PMID:28492532 PMID:28556411 PMID:30311386 PMID:31319225 PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO
ISS		 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
OMIM:236670
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1		 ClinVar
MouseDO		 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10		 OMIM
ClinVar		 PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 7:64,329,341...64,341,201
Ensembl chr 7:64,326,465...64,341,207 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
ClinVar Annotator: match by OMIM:615181		 OMIM
ClinVar		 PMID:23453667 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29273094 PMID:29302074 NCBI chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:28492532 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724 		JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,710,347...70,818,789 JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar Annotator: match by OMIM:615249		 OMIM
ClinVar		 PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13		 ClinVar
OMIM		 PMID:23877401 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by OMIM:613150
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED		 ClinVar
OMIM		 PMID:15894594 PMID:16701995 PMID:17559086 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22958903 PMID:24002165 PMID:25267602 PMID:25741868 PMID:26467025 PMID:26495167 PMID:27854218 PMID:28492532 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		 ClinVar
OMIM		 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27493216 PMID:28492532 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		 ClinVar PMID:11709191 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:27493216 PMID:28492532 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
ClinVar Annotator: match by OMIM:613153		 OMIM
ClinVar		 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20236121 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:28492532 PMID:30311386 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by OMIM:613154
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED		 ClinVar
OMIM		 PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar Annotator: match by OMIM:614830		 OMIM
ClinVar		 PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 PMID:27066570 PMID:28492532 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 ClinVar
OMIM		 PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193 		JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		 OMIM
ClinVar		 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:30060766, PMID:11445638 RGD:11537476 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273 		JBrowse link
lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143 		JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Lissencephaly
ClinVar Annotator: match by term: Posterior Predominant Lissencephaly		 ClinVar PMID:12910438 PMID:29706646 PMID:32097630 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418 		JBrowse link
G Ctnna2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr 4:107,880,611...109,042,724
Ensembl chr 4:107,881,826...108,008,484 		JBrowse link
G Dag1 dystroglycan 1 ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193 		JBrowse link
G Dcx doublecortin ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22544365 PMID:23883322 PMID:25741868 NCBI chr 5:60,866,498...60,871,734
Ensembl chr 5:60,868,502...60,871,705 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:7635482 PMID:10090473 PMID:11916007 PMID:15823288 PMID:19208450 PMID:25741868 PMID:30311386 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903 		JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:30471716 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524 		JBrowse link
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar NCBI chr10:27,845...27,921
Ensembl chr10:27,845...27,921 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184 		JBrowse link
G Myt1l myelin transcription factor 1-like ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:30311386 NCBI chr 6:48,452,385...48,843,443
Ensembl chr 6:48,452,369...48,857,936 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9620777 PMID:10398434 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11953735 PMID:12123493 PMID:12505263 PMID:12833396 PMID:14973119 PMID:15185344 PMID:16033915 PMID:16544999 PMID:17103455 PMID:18606567 PMID:18940477 PMID:19635536 PMID:19908051 PMID:20444919 PMID:22131123 PMID:22293976 PMID:22941933 PMID:23317186 PMID:23765759 PMID:24033266 PMID:24113799 PMID:25186627 PMID:25485873 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:27150568 PMID:27616075 PMID:28492532 PMID:30311386 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 severity ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence
ClinVar Annotator: match by term: Lissencephaly 1
ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
DNA:mutations::
ClinVar Annotator: match by OMIM:607432		 OMIM
ClinVar		 PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 PMID:11502906 PMID:12885786 PMID:14581661 PMID:15007136 PMID:17664403 PMID:18414213 PMID:19667223 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:27891766 PMID:32238909, PMID:11115846 RGD:11073221 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple RGD PMID:17559086 RGD:11065022 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918 		JBrowse link
G Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:28492532 PMID:30311386 NCBI chr 8:118,628,777...118,651,238
Ensembl chr 8:118,628,777...118,651,238 		JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670 		JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:40,171,957...40,217,056
Ensembl chr 7:40,171,963...40,217,056 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO
ISS		 DNA:missense mutations:cds:c.790C>T(p.R264C), c.1205G>A(p.R402H),c.1204C>T(p.R402C)(human)
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191		 MouseDO PMID:17584854 RGD:12859083 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953 		JBrowse link
G Tuba3a tubulin, alpha 3A ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr 4:157,789,874...157,798,763
Ensembl chr 4:157,789,874...157,798,868 		JBrowse link
Lissencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: LISSENCEPHALY 10 OMIM
ClinVar		 PMID:12910438 PMID:32097630 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418 		JBrowse link
Lissencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Lissencephaly 3 ClinVar PMID:10873396 PMID:22412862 PMID:25741868 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Tubulinopathies ClinVar PMID:25741868 PMID:26467025 NCBI chr 6:124,905,811...125,028,011
Ensembl chr 6:124,905,808...125,027,553 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Lissencephaly 3 ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 PMID:22995991 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Tubulinopathies
ClinVar Annotator: match by term: Lissencephaly 3
ClinVar Annotator: match by OMIM:611603		 OMIM
ClinVar		 PMID:3680207 PMID:6945576 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18728072 PMID:18954413 PMID:20466733 PMID:20603323 PMID:21403111 PMID:24088041 PMID:24860126 PMID:25059107 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26633545 PMID:26663670 PMID:28492532 PMID:29706646 PMID:29907476 PMID:30087272 PMID:30311386 PMID:30744660 PMID:31474318 PMID:32581362 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953 		JBrowse link
Lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar NCBI chr10:27,845...27,921
Ensembl chr10:27,845...27,921 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4
ClinVar Annotator: match by OMIM:614019		 OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26206584 PMID:26467025 PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938 		JBrowse link
Lissencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Lissencephaly 5
ClinVar Annotator: match by OMIM:615191		 OMIM
ClinVar		 PMID:23472759 PMID:25326635 PMID:25741868 PMID:25925986 NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079 		JBrowse link
Lissencephaly 6, with Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Lissencephaly 6, with microcephaly OMIM
ClinVar		 PMID:25521378 PMID:25521379 NCBI chr19:10,340,027...10,360,319
Ensembl chr19:10,340,307...10,360,310 		JBrowse link
Lissencephaly 7 with Cerebellar Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383 		JBrowse link
Lissencephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: LISSENCEPHALY 8
ClinVar Annotator: match by term: Lissencephaly 8		 ClinVar
OMIM		 PMID:25741868 PMID:27773428 NCBI chr 7:40,171,957...40,217,056
Ensembl chr 7:40,171,963...40,217,056 		JBrowse link
Lissencephaly 9 with Complex Brainstem Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION OMIM
ClinVar		 PMID:24507697 PMID:25741868 PMID:30471716 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524 		JBrowse link
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum
ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked
ClinVar Annotator: match by synonym: Subcortical laminar heterotopia, X-linked		 ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299 		JBrowse link
Lissencephaly, X-Linked, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Lissencephaly 2, X-linked
ClinVar Annotator: match by term: X-linked lissencephaly 2
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:300215		 OMIM
ClinVar		 PMID:11891829 PMID:11971879 PMID:12379852 PMID:12874405 PMID:12874418 PMID:14722918 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID:19606478 PMID:20300201 PMID:22252899 PMID:22922607 PMID:23246292 PMID:23757202 PMID:24781210 PMID:25741868 PMID:26029707 PMID:28492532, PMID:12379852 RGD:11565832 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143 		JBrowse link
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
ClinVar Annotator: match by OMIM:614499		 OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 NCBI chr 7:36,395,665...36,408,588
Ensembl chr 7:36,395,665...36,408,588 		JBrowse link
Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISS OMIM:247200 MouseDO NCBI chr10:62,019,379...62,032,384
Ensembl chr10:62,019,379...62,032,407 		JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISS OMIM:247200 MouseDO NCBI chr10:62,007,150...62,010,774
Ensembl chr10:62,007,150...62,009,582 		JBrowse link
G Mnt MAX network transcriptional repressor ISS OMIM:247200 MouseDO NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISS OMIM:247200 MouseDO NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISS OMIM:247200 MouseDO NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709 		JBrowse link
Norman-Roberts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reln reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome
ClinVar Annotator: match by term: Lissencephaly 2
ClinVar Annotator: match by OMIM:257320
ClinVar Annotator: match by term: Lissencephaly 2 (Norman-Roberts type)		 OMIM
ClinVar		 PMID:1451539 PMID:2564880 PMID:7682675 PMID:10973257 PMID:14515139 PMID:14593429 PMID:16311013 PMID:18414213 PMID:19319887 PMID:19435634 PMID:20697953 PMID:23287318 PMID:23334996 PMID:23757202 PMID:24385848 PMID:24467814 PMID:24828792 PMID:25167861 PMID:25620207 PMID:25648840 PMID:25741868 PMID:26046367 PMID:26302956 PMID:26459092 PMID:26467025 PMID:26544041 PMID:26901136 PMID:27064498 PMID:28419454 PMID:28492532 PMID:28677532 PMID:29056246 PMID:29358611 PMID:29706646 PMID:29969175 PMID:30311386 PMID:30891068 PMID:31134136, PMID:28123028 RGD:13207512 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670 		JBrowse link
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp2 tubulin, gamma complex associated protein 2 ISO ClinVar Annotator: match by term: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES ClinVar
OMIM		 PMID:31630790 NCBI chr 1:212,333,740...212,359,352
Ensembl chr 1:212,333,741...212,354,273 		JBrowse link
periventricular nodular heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO
ISS		 ClinVar Annotator: match by term: Periventricular Heterotopia
OMIM:300049 | OMIM:608097 | OMIM:608098 | OMIM:612881 | OMIM:615544		 ClinVar
MouseDO		 NCBI chr 3:163,570,435...163,656,612
Ensembl chr 3:163,570,532...163,656,626 		JBrowse link
G Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr20:5,124,512...5,138,084
Ensembl chr20:5,125,349...5,138,084 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:18854860 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035 		JBrowse link
G Ermard ER membrane-associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:56,982,742...57,008,076
Ensembl chr 1:56,982,821...57,001,665 		JBrowse link
G Flna filamin A ISO
IMP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar Annotator: match by term: X-linked periventricular heterotopia
DNA:deletion:cds:c.7941_7942delCT (human)
ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300049		 ClinVar
CTD
OMIM		 PMID:3658675 PMID:8290091 PMID:9071288 PMID:9800904 PMID:9883725 PMID:10982489 PMID:10982965 PMID:11532987 PMID:11914408 PMID:12410386 PMID:12612583 PMID:14988809 PMID:15194946 PMID:15523633 PMID:15668422 PMID:15864382 PMID:15917206 PMID:15994863 PMID:16299064 PMID:16303888 PMID:16417552 PMID:16596676 PMID:16684786 PMID:16822260 PMID:16835913 PMID:17152064 PMID:17264970 PMID:17546640 PMID:17632775 PMID:18414213 PMID:18805826 PMID:18854860 PMID:20014127 PMID:20598277 PMID:20730588 PMID:20844545 PMID:21520333 PMID:21836662 PMID:21960593 PMID:22366253 PMID:22522697 PMID:23873601 PMID:24088041 PMID:24098143 PMID:25167861 PMID:25614868 PMID:25649377 PMID:25741868 PMID:25817843 PMID:26059211 PMID:26188975 PMID:26404489 PMID:26467025 PMID:26471271 PMID:26633545 PMID:26686323 PMID:26804200 PMID:27193221 PMID:28133863 PMID:28425981 PMID:28428218 PMID:28454995 PMID:28492532 PMID:28798025 PMID:29024177 PMID:29706646 PMID:30311386 PMID:30561107 PMID:30986657 PMID:31064749, PMID:9883725, PMID:23873601, PMID:11532987, PMID:22076441 RGD:1598953, RGD:11565137, RGD:11565112, RGD:11564351 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:29738522 PMID:30150678 PMID:30311386 NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461 		JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593 		JBrowse link
Periventricular Nodular Heterotopia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, autosomal recessive
ClinVar Annotator: match by OMIM:608097
DNA:missense mutations, deletion:exon:multiple		 OMIM
ClinVar		 PMID:14647276 PMID:18414213 PMID:23812912 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532, PMID:14647276 RGD:1300288 NCBI chr 3:163,570,435...163,656,612
Ensembl chr 3:163,570,532...163,656,626 		JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 1:170,594,981...170,629,062
Ensembl chr 1:170,594,822...170,628,915 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387 		JBrowse link
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15668422 PMID:15917206 PMID:16299064 PMID:16417552 PMID:16822260 PMID:17264970 PMID:17632775 PMID:18414213 PMID:18805826 PMID:20598277 PMID:20844545 PMID:21520333 PMID:21836662 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:30311386 PMID:31064749 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		JBrowse link
Periventricular Nodular Heterotopia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermard ER membrane-associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6
ClinVar Annotator: match by OMIM:615544		 OMIM
ClinVar		 PMID:24056535 PMID:25741868 NCBI chr 1:56,982,742...57,008,076
Ensembl chr 1:56,982,821...57,001,665 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 7
ClinVar Annotator: match by term: Periventricular nodular heterotopia 7		 ClinVar
OMIM		 PMID:25741868 PMID:27694961 PMID:32238909 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720 		JBrowse link
Periventricular Nodular Heterotopia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 8 ClinVar
OMIM		 PMID:25741868 PMID:28868155 NCBI chr10:45,562,700...45,579,214
Ensembl chr10:45,563,547...45,579,029 		JBrowse link
Periventricular Nodular Heterotopia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 9 OMIM
ClinVar		 PMID:25741868 PMID:29738522 PMID:30150678 PMID:30311386 PMID:31317654 NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750 		JBrowse link
subcortical band heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO DNA:missense mutation, nonsense mutations:exon:p.R186C (556C>T), p.R272X (814C>T), p.R303X (907C>T) (human) RGD PMID:10369164 RGD:12904717 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299 		JBrowse link
G Eml1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain ClinVar
OMIM		 PMID:24859200 PMID:28556411 NCBI chr 6:132,367,342...132,450,488
Ensembl chr 6:132,383,337...132,450,393 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10441340 PMID:11502906 PMID:14581661 PMID:18414213 PMID:25741868 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412 		JBrowse link
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO
IMP		 DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)		 RGD PMID:19050731, PMID:9618162, PMID:19098909 RGD:12904718, RGD:12904762, RGD:12904725 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299 		JBrowse link
Walker-Warburg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240 		JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719 		JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 7:126,774,010...126,914,085
Ensembl chr 7:126,775,516...126,913,585 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISS OMIM:236670 | OMIM:253280 MouseDO NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464 		JBrowse link
G Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,800,754...78,812,483
Ensembl chr 1:78,800,754...78,812,483 		JBrowse link
G Dag1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18923033, PMID:24824861 RGD:11537405, RGD:11537406 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193 		JBrowse link
G Fkrp fukutin related protein ISO DNA:missense mutation:exon:p.M1V (c.1A>G) (human)
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Pagon syndrome
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17055682 PMID:17113772 PMID:17336067 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19299310 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20623375 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21293871 PMID:21296577 PMID:21816046 PMID:22264518 PMID:22908982 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26320847 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27142102 PMID:27363342 PMID:27439679 PMID:27671536 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28492532 PMID:28629604 PMID:28688748 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30311386 PMID:30564623 PMID:31041397 PMID:31671740, PMID:20236121 RGD:11667969 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation, insertions: :multiple
DNA:insertion:exon:c.1167insA (human)		 ClinVar
CTD		 PMID:9690476 PMID:10545611 PMID:11165248 PMID:14627679 PMID:15833426 PMID:17034757 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26633542 PMID:26636822 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:30060766, PMID:9690476, PMID:24824861, PMID:10545611, PMID:19266496 RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273 		JBrowse link
G Fsd1l fibronectin type III and SPRY domain containing 1-like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:70,441,075...70,517,131
Ensembl chr 5:70,441,123...70,511,659 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159 		JBrowse link
G Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,818,360...78,822,224
Ensembl chr 1:78,818,404...78,822,224 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg Syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by OMIM:253280
ClinVar Annotator: match by term: Muscle eye brain disease
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)
DNA:missense mutations, splice-site mutations, deletions: :multiple
DNA:deletions, splice-site mutation:exon, intron:multiple
DNA:missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		 ClinVar
CTD		 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:30311386 PMID:30961548, PMID:15236414, PMID:11709191, PMID:22554691, PMID:23689641 RGD:11071487, RGD:1554293, RGD:11065512, RGD:11532772 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218 		JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD PMID:26060116 RGD:11532770 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833 		JBrowse link
G Pomk protein-O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple
ClinVar Annotator: match by term: Pagon syndrome
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)
DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple		 ClinVar
CTD		 PMID:12369018 PMID:15637732 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:28116189 PMID:28492532 PMID:30311386 PMID:32860008, PMID:12369018, PMID:15637732, PMID:16575835 RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:15894594 RGD:11532761 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918 		JBrowse link
G Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,767,911...78,796,223
Ensembl chr 1:78,767,911...78,796,231 		JBrowse link
G Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,833,449...78,835,832
Ensembl chr 1:78,833,157...78,837,623 		JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy		 CTD
ClinVar		 PMID:23217329 PMID:24033266 PMID:28492532 NCBI chr 7:64,329,341...64,341,201
Ensembl chr 7:64,326,465...64,341,207 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,739,930...78,765,696
Ensembl chr 1:78,735,678...78,765,692 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		 ClinVar PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:30311386 PMID:30961548 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        Nervous System Malformations 1102
          complex cortical dysplasia with other brain malformations 754
            Malformations of Cortical Development, Group II 140
              lissencephaly + 67
              periventricular nodular heterotopia + 13
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                complex cortical dysplasia with other brain malformations 754
                  Malformations of Cortical Development, Group II 140
                    lissencephaly + 67
                    periventricular nodular heterotopia + 13
paths to the root