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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 ADAM19 ADAM metallopeptidase domain 19 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 4:52,650,077...52,733,299
Ensembl chr 4:52,650,162...52,729,843
JBrowse link
G AHNAK2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:72,423,322...72,446,388 JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128
JBrowse link
G ARMCX4 armadillo repeat containing X-linked 4 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:75,394,315...75,412,888
Ensembl chr  X:75,397,802...75,405,301
JBrowse link
G ATXN7 ataxin 7 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr20:27,226,957...27,335,327
Ensembl chr20:27,224,375...27,333,445
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:42,302,971...42,327,787
Ensembl chr  X:42,303,158...42,326,774
JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:19,704,104...19,836,886
Ensembl chr10:19,707,804...19,837,481
JBrowse link
G CFAP47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:30,880,335...31,390,675 JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
JBrowse link
G DACH2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:67,552,149...67,699,027
Ensembl chr  X:66,928,085...67,699,032
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899
JBrowse link
G DLA88 MHC class I DLA-88 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825
JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:113,644,191...113,652,441
Ensembl chr 1:113,644,100...113,828,488
JBrowse link
G EVPL envoplakin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 9:4,610,834...4,630,704
Ensembl chr 9:4,608,782...4,630,445
JBrowse link
G FAM205A family with sequence similarity 205 member A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr11:51,429,911...51,436,517
Ensembl chr11:51,430,091...51,435,019
JBrowse link
G FILIP1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr12:36,939,378...37,146,607
Ensembl chr12:36,942,790...37,166,589
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 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203
JBrowse link
G FRMPD3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:81,077,242...81,137,437
Ensembl chr  X:81,110,672...81,136,512
JBrowse link
G GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:54,865,674...54,875,536
Ensembl chr  X:54,865,818...54,875,530
JBrowse link
G GRID1 glutamate ionotropic receptor delta type subunit 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 4:33,516,893...34,155,573
Ensembl chr 4:33,516,911...34,156,416
JBrowse link
G GYG2 glycogenin 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:1,476,306...1,512,915
Ensembl chr  X:1,475,951...1,511,534
JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427
JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:89,446,340...89,618,716
Ensembl chr 1:89,480,399...89,618,143
JBrowse link
G LACTB lactamase beta ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr30:27,720,255...27,738,213
Ensembl chr30:27,719,821...27,737,959
JBrowse link
G LOC100684429 protein BEX1-like ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar
G LOC476718 mucin-16 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr20:51,790,036...51,876,801 JBrowse link
G LOC479822 acyl-coenzyme A synthetase ACSM2B, mitochondrial ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:24,864,952...24,893,830 JBrowse link
G LOC610636 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:18414213 PMID:25741868 PMID:30744660 NCBI chr37:25,811,491...25,818,838 JBrowse link
G LRRC66 leucine rich repeat containing 66 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr13:44,943,556...44,969,350
Ensembl chr13:44,942,441...44,966,861
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:17,655,295...17,718,960
Ensembl chr  X:17,655,363...17,710,288
JBrowse link
G MEIS3 Meis homeobox 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:108,591,759...108,602,635
Ensembl chr 1:108,591,589...108,604,040
JBrowse link
G METTL1 methyltransferase like 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:1,831,088...1,833,818
Ensembl chr10:1,831,091...1,833,868
JBrowse link
G MROH2A maestro heat like repeat family member 2A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr25:45,166,192...45,213,634
Ensembl chr25:45,167,254...45,213,044
JBrowse link
G NAP1L2 nucleosome assembly protein 1 like 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:57,085,962...57,088,235
Ensembl chr  X:57,086,769...57,088,157
JBrowse link
G NAP1L3 nucleosome assembly protein 1 like 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:69,231,981...69,233,827
Ensembl chr  X:69,232,078...69,233,499
JBrowse link
G NXPE3 neurexophilin and PC-esterase domain family member 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr33:8,073,254...8,120,253
Ensembl chr33:8,073,840...8,154,561
JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr33:25,763,282...25,798,284
Ensembl chr33:25,763,255...25,798,198
JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:14,911,511...14,989,923
Ensembl chr  X:14,896,206...14,989,283
JBrowse link
G PI4K2B phosphatidylinositol 4-kinase type 2 beta ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 3:84,981,785...85,001,702
Ensembl chr 3:84,983,899...84,999,771
JBrowse link
G PLA2G4E phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr30:9,018,238...9,077,258
Ensembl chr30:9,020,079...9,075,999
JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:113,800,620...113,811,478
Ensembl chr 1:113,800,305...113,810,683
JBrowse link
G PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr34:12,001,903...12,065,108
Ensembl chr34:11,987,474...12,065,171
JBrowse link
G PNPLA4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:4,775,702...4,925,027
Ensembl chr  X:4,874,240...4,924,976
JBrowse link
G PRR12 proline rich 12 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:106,904,562...106,931,053
Ensembl chr 1:106,904,557...106,930,990
JBrowse link
G PTPRT protein tyrosine phosphatase receptor type T ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr24:29,992,957...30,764,469
Ensembl chr24:30,000,637...30,820,835
JBrowse link
G RBMX2 RNA binding motif protein X-linked 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:101,533,732...101,547,147
Ensembl chr  X:101,533,835...101,544,552
JBrowse link
G RFX1 regulatory factor X1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr20:48,488,325...48,519,151
Ensembl chr20:48,488,661...48,519,370
JBrowse link
G SLC13A1 solute carrier family 13 member 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr14:60,666,666...60,762,065
Ensembl chr14:60,666,477...60,762,012
JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:41,709,441...41,718,702
Ensembl chr  X:41,709,467...41,717,080
JBrowse link
G STX7 syntaxin 7 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:26395554 NCBI chr 1:25,544,283...25,607,179
Ensembl chr 1:25,546,596...25,607,231
JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:41,782,774...41,799,083
Ensembl chr  X:41,782,671...41,798,828
JBrowse link
G THADA THADA armadillo repeat containing ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:45,754,873...46,084,496
Ensembl chr10:45,755,985...46,081,896
JBrowse link
G TLR6 toll like receptor 6 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 3:73,504,357...73,523,964
Ensembl chr 3:73,520,706...73,523,099
JBrowse link
G TNK2 tyrosine kinase non receptor 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr33:29,153,636...29,177,568
Ensembl chr33:29,152,851...29,179,718
JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:121,263,341...121,265,009
Ensembl chr  X:121,258,646...121,264,555
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 chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
G TUBGCP2 tubulin gamma complex associated protein 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:31630790 NCBI chr28:40,865,742...40,881,105
Ensembl chr28:40,865,748...40,881,119
JBrowse link
G URI1 URI1 prefoldin like chaperone ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:121,528,706...121,612,200
Ensembl chr 1:121,530,203...121,614,909
JBrowse link
G WDR62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:116,594,243...116,641,206
Ensembl chr 1:116,594,244...116,641,191
JBrowse link
G ZMAT1 zinc finger matrin-type 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:75,777,792...75,809,220
Ensembl chr  X:75,778,991...75,838,139
JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:41,031,507...41,072,759
Ensembl chr  X:41,032,742...41,071,949
JBrowse link
G ZNF75D zinc finger protein 75D ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:105,820,125...105,833,101
Ensembl chr  X:105,696,352...105,832,860
JBrowse link
G ZSCAN2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 3:53,864,823...53,905,236
Ensembl chr 3:53,866,294...53,884,685
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 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 PMID:28492532 NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845
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 OMIM NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845
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 OMIM NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328
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 OMIM NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827
JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr 9:46,466,879...46,482,467
Ensembl chr 9:46,469,426...46,482,705
JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly classic
ClinVar Annotator: match by term: Type 1 lissencephaly
ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
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 chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400
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 chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
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 OMIM NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
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 chr14:31,117,375...31,153,916
Ensembl chr14:31,118,013...31,153,874
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 chr14:31,154,285...31,217,193
Ensembl chr14:31,153,659...31,216,911
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
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 chr14:31,079,128...31,112,986
Ensembl chr14:31,079,220...31,112,982
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 chr14:31,022,599...31,027,155
Ensembl chr14:31,022,766...31,026,737
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 chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
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 chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
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 chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264
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 chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G FKRP fukutin related protein 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 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 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G FKTN fukutin ISO 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 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 chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
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 OMIM NCBI chr10:6,630,076...6,648,387 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 OMIM NCBI chr 4:4,434,987...4,489,844
Ensembl chr 4:4,433,871...4,490,903
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 chr 4:4,490,892...4,569,401
Ensembl chr 4:4,490,994...4,569,357
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 chr16:22,739,070...22,767,942
Ensembl chr16:22,739,079...22,767,914
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 chr16:22,791,198...22,940,168
Ensembl chr16:22,784,267...22,901,991
JBrowse link
G POMK protein O-mannose kinase ISO OMIM NCBI chr16:22,699,552...22,722,773
Ensembl chr16:22,701,736...22,719,229
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 chr16:22,901,224...22,929,990
Ensembl chr16:22,900,313...22,927,125
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 chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582
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 OMIM NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264
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 OMIM NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
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 OMIM NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
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 chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
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 OMIM NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
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 OMIM NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787
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 OMIM NCBI chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214
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 OMIM NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
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 chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G FKTN fukutin ISO OMIM NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
lissencephaly 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
ClinVar Annotator: match by term: Posterior Predominant Lissencephaly
ClinVar PMID:12910438 PMID:29706646 PMID:32097630 NCBI chr 1:58,494,552...58,643,105
Ensembl chr 1:58,494,560...58,691,054
JBrowse link
G CTNNA2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr17:43,472,346...44,504,881
Ensembl chr17:43,472,923...44,557,766
JBrowse link
G EXOSC3 exosome component 3 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22544365 PMID:23883322 PMID:25741868 NCBI chr11:54,072,993...54,079,024
Ensembl chr11:54,073,313...54,078,598
JBrowse link
G LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308
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 chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355
JBrowse link
G LOC477570 tubulin alpha-3 chain-like ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr26:30,485,958...30,497,638 JBrowse link
G LOC610636 tubulin alpha-1B chain ISO DNA:missense mutations:cds:c.790C>T(p.R264C), c.1205G>A(p.R402H),c.1204C>T(p.R402C)(human) RGD PMID:17584854 RGD:12859083 NCBI chr37:25,811,491...25,818,838 JBrowse link
G MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:30471716 NCBI chr15:3,361,887...3,703,891
Ensembl chr15:3,362,867...3,573,325
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 chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184
JBrowse link
G MYT1L myelin transcription factor 1 like ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:30311386 NCBI chr17:920,727...1,325,335
Ensembl chr17:922,276...1,057,585
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 chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563
JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lissencephaly, Recessive
CTD
ClinVar
PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 PMID:28492532 NCBI chr 6:28,143,244...28,186,069
Ensembl chr 6:28,143,244...28,186,051
JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 severity ISO DNA:mutations:: OMIM
RGD
PMID:11115846 RGD:11073221 NCBI chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400
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 chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
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 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:28492532 PMID:30311386 NCBI chr20:41,485,959...41,511,250
Ensembl chr20:41,485,195...41,587,003
JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875
JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:29,280,423...29,350,449
Ensembl chr15:29,298,078...29,350,553
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 OMIM NCBI chr 1:58,494,552...58,643,105
Ensembl chr 1:58,494,560...58,691,054
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 chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128
JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Tubulinopathies ClinVar PMID:25741868 PMID:26467025 NCBI chr 8:62,123,934...62,245,485
Ensembl chr 8:62,143,029...62,245,491
JBrowse link
G LOC610636 tubulin alpha-1B chain ISO OMIM NCBI chr37:25,811,491...25,818,838 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 chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592
JBrowse link
Lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184
JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO OMIM NCBI chr 6:28,143,244...28,186,069
Ensembl chr 6:28,143,244...28,186,051
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 OMIM NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308
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 OMIM NCBI chr 2:58,734,875...58,755,515
Ensembl chr 2:58,734,893...58,755,477
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 OMIM NCBI chr16:15,105,177...15,113,085
Ensembl chr16:15,101,230...15,109,269
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 OMIM NCBI chr15:29,280,423...29,350,449
Ensembl chr15:29,298,078...29,350,553
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 OMIM NCBI chr15:3,361,887...3,703,891
Ensembl chr15:3,362,867...3,573,325
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: Subcortical laminar heterotopia, X-linked
ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum
ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827
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 OMIM NCBI chr  X:20,545,346...20,556,206
Ensembl chr  X:20,545,346...20,556,206
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 OMIM NCBI chr15:33,873,600...34,052,498
Ensembl chr15:33,878,467...34,092,094
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 OMIM NCBI chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875
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 OMIM NCBI chr28:40,865,742...40,881,105
Ensembl chr28:40,865,748...40,881,119
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 ClinVar Annotator: match by term: Periventricular Heterotopia ClinVar NCBI chr24:35,648,650...35,744,815
Ensembl chr24:35,648,431...35,744,584
JBrowse link
G BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr12:1,126,730...1,141,978
Ensembl chr12:1,126,732...1,137,896
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:122,101,992...122,109,240
Ensembl chr  X:122,101,992...122,109,165
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:122,050,309...122,052,629
Ensembl chr  X:122,050,455...122,052,524
JBrowse link
G ERMARD ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:71,998,431...72,024,726
Ensembl chr12:71,998,437...72,023,512
JBrowse link
G FLNA filamin A ISO OMIM NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203
JBrowse link
G MAP1B microtubule associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia
ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar PMID:29738522 PMID:30150678 PMID:30311386 NCBI chr 2:55,175,000...55,258,160
Ensembl chr 2:55,174,837...55,253,975
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072
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:122,098,020...122,100,719
Ensembl chr  X:122,098,020...122,100,719
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:122,111,608...122,125,714
Ensembl chr  X:122,111,434...122,125,506
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 OMIM NCBI chr24:35,648,650...35,744,815
Ensembl chr24:35,648,431...35,744,584
JBrowse link
G DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr21:29,927,713...29,955,742
Ensembl chr21:29,928,176...29,948,713
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
CTD
ClinVar
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:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203
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 OMIM NCBI chr12:71,998,431...72,024,726
Ensembl chr12:71,998,437...72,023,512
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 OMIM NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072
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 OMIM NCBI chr14:835,476...836,424
Ensembl chr14:835,476...836,424
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 OMIM NCBI chr 2:55,175,000...55,258,160
Ensembl chr 2:55,174,837...55,253,975
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:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827
JBrowse link
G EML1 EMAP like 1 ISO OMIM NCBI chr 8:68,139,741...68,295,363
Ensembl chr 8:68,216,857...68,294,080
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 chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400
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 DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)
RGD PMID:9618162 PMID:19050731 PMID:19098909 RGD:12904718 RGD:12904725 RGD:12904762 NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827
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 chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:4,434,987...4,489,844
Ensembl chr 4:4,433,871...4,490,903
JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264
JBrowse link
G CALM3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:109,284,729...109,294,491
Ensembl chr 1:109,286,155...109,294,391
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 chr10:19,704,104...19,836,886
Ensembl chr10:19,707,804...19,837,481
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
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 1:109,247,743...109,264,655
Ensembl chr 1:109,248,556...109,255,975
JBrowse link
G DAG1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G FKRP fukutin related protein ISO CTD Direct Evidence: marker/mechanism
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
DNA:missense mutation:exon:p.M1V (c.1A>G) (human)
CTD
ClinVar
RGD
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:20236121 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 RGD:11667969 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
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)
RGD
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:24824861 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 RGD:11062579 RGD:11537406 RGD:11576320 RGD:1598929 NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
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 chr11:61,316,132...61,389,205
Ensembl chr11:61,316,148...61,388,368
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
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 1:109,266,884...109,268,515
Ensembl chr 1:109,268,056...109,268,453
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg Syndrome
CTD
ClinVar
NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)
ClinVar Annotator: match by term: Muscle eye brain disease
DNA:deletions, splice-site mutation:exon, intron:multiple
DNA:missense mutations, nonsense mutation: :multiple
DNA:missense mutations, splice-site mutations, deletions: :multiple
CTD Direct Evidence: marker/mechanism
RGD
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 RGD:11065512 RGD:11071487 RGD:11532772 RGD:1554293 NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26060116 RGD:11532770 NCBI chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214
JBrowse link
G POMK protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:22,699,552...22,722,773
Ensembl chr16:22,701,736...22,719,229
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
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
CTD Direct Evidence: marker/mechanism
RGD
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 RGD:11073321 RGD:11532686 RGD:731235 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
CTD
RGD
PMID:15894594 RGD:11532761 NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
JBrowse link
G PRKD2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:109,206,400...109,241,529
Ensembl chr 1:109,207,067...109,330,007
JBrowse link
G PTGIR prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:109,275,198...109,279,463
Ensembl chr 1:109,274,988...109,277,584
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 chr10:6,630,076...6,648,387 JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:109,176,955...109,203,875
Ensembl chr 1:109,176,983...109,202,591
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscle eye brain disease 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 chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12733
    disease of anatomical entity 12275
      nervous system disease 10047
        Nervous System Malformations 1072
          complex cortical dysplasia with other brain malformations 737
            Malformations of Cortical Development, Group II 135
              lissencephaly + 62
              periventricular nodular heterotopia + 13
Path 2
Term Annotations click to browse term
  disease 12733
    Developmental Diseases 9026
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7893
        genetic disease 7450
          monogenic disease 5469
            autosomal genetic disease 4536
              autosomal dominant disease 2909
                complex cortical dysplasia with other brain malformations 737
                  Malformations of Cortical Development, Group II 135
                    lissencephaly + 62
                    periventricular nodular heterotopia + 13
paths to the root