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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 ACSM2B acyl-CoA synthetase medium chain family member 2B ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 3:25,357,943...25,387,843 JBrowse link
G ADAM19 ADAM metallopeptidase domain 19 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr16:65,715,445...65,814,761
Ensembl chr16:65,715,622...65,814,760
JBrowse link
G AHNAK2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr12:50,903,358...50,917,187
Ensembl chr12:50,903,438...50,920,437
JBrowse link
G ARMCX4 armadillo repeat containing X-linked 4 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:83,092,592...83,130,725
Ensembl chr  X:83,092,682...83,103,838
JBrowse link
G ATXN7 ataxin 7 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr13:45,356,350...45,514,816
Ensembl chr13:45,401,127...45,498,067
JBrowse link
G BEX1 brain expressed, X-linked 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:84,223,041...84,224,583
Ensembl chr  X:84,222,954...84,224,613
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,246,786...43,283,990
JBrowse link
G CFAP47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:31,879,143...32,331,543 JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
G DACH2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:69,137,431...69,698,617
Ensembl chr  X:69,137,455...69,701,374
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,790,073...59,875,245
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,223...29,181,689
JBrowse link
G DROSHA drosha ribonuclease III ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr16:17,727,695...17,847,954
Ensembl chr16:17,565,137...17,848,073
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:48,305,837...48,314,523
Ensembl chr 6:48,305,844...48,314,886
JBrowse link
G EVPL envoplakin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr12:5,409,456...5,426,433
Ensembl chr12:5,409,577...5,426,435
JBrowse link
G FAM205A family with sequence similarity 205 member A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:32,062,243...32,071,394 JBrowse link
G FILIP1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:90,427,529...90,643,061
Ensembl chr 1:90,388,400...90,638,574
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
G FRMPD3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:87,980,635...88,053,070
Ensembl chr  X:87,960,668...88,053,073
JBrowse link
G GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:56,449,430...56,460,399
Ensembl chr  X:56,449,422...56,462,311
JBrowse link
G GRID1 glutamate ionotropic receptor delta type subunit 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr14:86,539,896...87,227,089
Ensembl chr14:86,539,896...87,227,394
JBrowse link
G GYG2 glycogenin 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:52,310...89,412
Ensembl chr  X:52,170...89,412
JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,960...42,941,890
JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:221,015,042...221,218,875
Ensembl chr 1:221,015,046...221,218,575
JBrowse link
G LACTB lactamase beta ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:108,909,690...108,924,509
Ensembl chr 1:108,909,690...108,924,511
JBrowse link
G LGALS13 lectin, galactoside-binding, soluble, 13 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:48,205,158...48,209,859
Ensembl chr 6:48,205,158...48,209,867
JBrowse link
G LOC100525798 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:58,969,577...59,176,807
Ensembl chr  X:58,966,830...58,972,091
JBrowse link
G LOC102159820 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 5:3,114,410...3,203,378
Ensembl chr 5:2,980,069...3,204,803
JBrowse link
G LRRC66 leucine rich repeat containing 66 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:39,104,727...39,127,021
Ensembl chr 8:39,106,912...39,148,747
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:18,013,360...18,054,250 JBrowse link
G MEIS3 Meis homeobox 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:53,175,920...53,188,455
Ensembl chr 6:53,175,928...53,188,406
JBrowse link
G METTL1 methyltransferase like 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 5:23,059,001...23,063,025
Ensembl chr 5:23,053,150...23,062,991
JBrowse link
G MROH2A maestro heat like repeat family member 2A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr15:134,053,884...134,103,255
Ensembl chr15:134,054,816...134,102,630
JBrowse link
G NAP1L3 nucleosome assembly protein 1 like 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:76,147,190...76,149,848 JBrowse link
G NXPE3 neurexophilin and PC-esterase domain family member 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr13:157,298,831...157,337,904
Ensembl chr13:157,298,816...157,337,838
JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr13:137,809,499...137,865,383
Ensembl chr13:137,809,503...137,865,383
JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,102...15,365,565
JBrowse link
G PI4K2B phosphatidylinositol 4-kinase type 2 beta ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:19,200,962...19,238,346
Ensembl chr 8:19,201,352...19,238,335
JBrowse link
G PLA2G4E phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:129,288,727...129,364,034
Ensembl chr 1:129,289,112...129,364,026
JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:48,069,532...48,080,001
Ensembl chr 6:48,069,564...48,079,672
JBrowse link
G PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr16:79,884,453...79,935,046 JBrowse link
G PNPLA4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:4,540,846...4,623,831
NCBI chr  Y:3,287,635...3,369,286
JBrowse link
G PRR12 proline rich 12 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:54,641,889...54,675,119
Ensembl chr 6:54,646,574...54,675,115
JBrowse link
G PTPRT protein tyrosine phosphatase receptor type T ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr17:44,717,539...45,880,822
Ensembl chr17:44,714,620...45,880,822
JBrowse link
G RBMX2 RNA binding motif protein X-linked 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:106,880,912...106,890,391
Ensembl chr  X:106,880,833...106,893,824
JBrowse link
G RFX1 regulatory factor X1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 2:65,173,559...65,205,551
Ensembl chr 2:65,173,574...65,205,548
JBrowse link
G SLC13A1 solute carrier family 13 member 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr18:24,136,391...24,213,445
Ensembl chr18:23,903,019...24,219,235
JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:42,590,608...42,601,537
Ensembl chr  X:42,585,013...42,605,511
JBrowse link
G STX7 syntaxin 7 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:26395554 NCBI chr 1:31,184,905...31,237,052
Ensembl chr 1:31,184,947...31,243,071
JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:42,682,267...42,696,579
Ensembl chr  X:42,682,268...42,696,579
JBrowse link
G THADA THADA armadillo repeat containing ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 3:96,872,178...97,197,051 JBrowse link
G TLR6 toll like receptor 6 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
JBrowse link
G TNK2 tyrosine kinase non receptor 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr13:134,082,266...134,124,826
Ensembl chr13:134,081,697...134,124,826
JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598
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 chr15:84,226,953...84,501,320 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 5:15,186,059...15,190,211
Ensembl chr 5:15,149,099...15,269,267
JBrowse link
G TUBGCP2 tubulin gamma complex associated protein 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:31630790 NCBI chr14:141,233,854...141,253,377
Ensembl chr14:141,233,856...141,253,370
JBrowse link
G URI1 URI1 prefoldin like chaperone ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:40,043,320...40,110,540
Ensembl chr 6:40,023,595...40,109,816
JBrowse link
G WDR62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:45,418,966...45,477,619
Ensembl chr 6:45,419,041...45,474,050
JBrowse link
G ZMAT1 zinc finger matrin-type 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:83,396,325...83,559,247
Ensembl chr  X:83,396,333...83,559,190
JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:41,931,036...41,984,439
Ensembl chr  X:41,934,977...41,984,711
JBrowse link
G ZNF75D zinc finger protein 75D ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:110,890,310...110,904,067
Ensembl chr  X:110,890,341...110,904,065
JBrowse link
G ZSCAN2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:52,910,839...52,958,007
Ensembl chr 7:52,910,849...52,957,983
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 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356
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 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356
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 chr12:1,320,355...1,323,219
Ensembl chr12:1,160,350...1,323,217
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:91,317,671...91,644,572
Ensembl chr  X:91,323,768...91,644,567
JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr12:48,469,230...48,486,737
Ensembl chr12:48,469,234...48,486,729
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 chr12:48,567,329...48,735,836
Ensembl chr12:48,567,337...48,735,838
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 1:246,852,387...246,916,650 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 chr13:32,246,471...32,253,162
Ensembl chr13:32,246,468...32,253,148
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 9:85,850,646...85,887,450
Ensembl chr 9:85,848,002...85,887,427
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 9:85,887,801...85,947,414
Ensembl chr 9:85,886,158...85,947,408
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,415,550...85,710,752
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 9:85,811,382...85,844,726
Ensembl chr 9:85,803,124...85,844,803
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 9:85,743,332...85,747,893
Ensembl chr 9:85,743,335...85,747,591
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 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
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 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
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 2:6,043,594...6,045,220
Ensembl chr 2:6,043,494...6,045,818
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 chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
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:30564623 PMID:31041397 PMID:31671740 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
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 chr 1:246,852,387...246,916,650 JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
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 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,417,173
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 chr 5:28,247,409...28,276,276
Ensembl chr 5:28,247,412...28,276,273
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 chr14:55,749,409...55,818,738
Ensembl chr14:55,749,472...55,818,012
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 chr14:55,816,663...55,901,215 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 chr17:11,928,327...11,953,139
Ensembl chr17:11,928,357...11,978,915
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 chr17:11,817,963...11,919,152
Ensembl chr17:11,817,987...11,924,884
JBrowse link
G POMK protein O-mannose kinase ISO OMIM NCBI chr17:11,957,615...11,978,919 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 chr17:11,777,942...11,817,920
Ensembl chr17:11,780,129...11,817,483
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 chr17:11,765,383...11,773,321
Ensembl chr17:11,765,148...11,817,795
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 chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,494...6,045,818
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 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,417,173
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 chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
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 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
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 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
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
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 chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133
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 chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
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 chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
JBrowse link
G FKTN fukutin ISO OMIM NCBI chr 1:246,852,387...246,916,650 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 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695
JBrowse link
G CTNNA2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr 3:63,205,073...64,417,990 JBrowse link
G EXOSC3 exosome component 3 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22544365 PMID:23883322 PMID:25741868 NCBI chr 1:238,536,341...238,541,756
Ensembl chr 1:238,536,343...238,541,333
JBrowse link
G LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269
JBrowse link
G MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:30471716 NCBI chr 6:94,960,385...95,318,126
Ensembl chr 6:94,960,457...95,317,145
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 3:7,002,667...7,143,093
Ensembl chr 3:7,002,733...7,143,094
JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Agyria 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:31173646 PMID:32295079 NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,659...46,903,999
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 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623
JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 severity ISO DNA:mutations:: OMIM
RGD
PMID:11115846 RGD:11073221 NCBI chr12:48,567,329...48,735,836
Ensembl chr12:48,567,337...48,735,838
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 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
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 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,417,173
JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 9:103,460,855...103,963,728
Ensembl chr 9:103,460,857...103,963,965
JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:94,328,452...94,384,266
Ensembl chr 5:94,276,769...94,384,142
JBrowse link
G TUBA1A tubulin alpha 1a 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 chr 5:15,186,059...15,190,211
Ensembl chr 5:15,149,099...15,269,267
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 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695
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 chr12:50,903,358...50,917,187
Ensembl chr12:50,903,438...50,920,437
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 chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,165
JBrowse link
G TUBA1A tubulin alpha 1a ISO OMIM NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,149,099...15,269,267
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 3:7,002,667...7,143,093
Ensembl chr 3:7,002,733...7,143,094
JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO OMIM NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623
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 chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269
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 6:19,630,355...19,659,039
Ensembl chr 6:19,630,350...19,667,676
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 chr18:6,166,914...6,171,157 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 chr 5:94,328,452...94,384,266
Ensembl chr 5:94,276,769...94,384,142
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 chr 6:94,960,385...95,318,126
Ensembl chr 6:94,960,457...95,317,145
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:91,317,671...91,644,572
Ensembl chr  X:91,323,768...91,644,567
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:21,067,631...21,079,850
Ensembl chr  X:21,067,613...21,079,524
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 chr 5:89,257,603...89,480,414
Ensembl chr 5:89,242,169...89,586,239
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 chr 9:103,460,855...103,963,728
Ensembl chr 9:103,460,857...103,963,965
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 chr14:141,233,854...141,253,377
Ensembl chr14:141,233,856...141,253,370
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 chr17:50,631,844...50,732,253
Ensembl chr17:50,631,092...50,732,243
JBrowse link
G BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr 7:23,756,897...23,768,659
Ensembl chr 7:23,756,897...23,775,893
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:124,931,410...124,937,569
Ensembl chr  X:124,931,408...124,939,965
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:124,883,047...124,885,429 JBrowse link
G ERMARD ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:513,364...540,948
Ensembl chr 1:512,676...540,898
JBrowse link
G FLNA filamin A ISO OMIM NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
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:25741868 PMID:29738522 PMID:30150678 NCBI chr16:48,403,338...48,501,453
Ensembl chr16:48,403,526...48,498,896
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,055...162,737,492
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:124,927,249...124,929,791
Ensembl chr  X:124,926,482...124,929,797
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:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,947,241
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 chr17:50,631,844...50,732,253
Ensembl chr17:50,631,092...50,732,243
JBrowse link
G DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 8:99,141,967...99,312,131 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:31064749 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
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 chr 1:513,364...540,948
Ensembl chr 1:512,676...540,898
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 1:162,364,053...162,736,515
Ensembl chr 1:162,364,055...162,737,492
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 chr 2:51,219,597...51,237,640
Ensembl chr 2:51,219,667...51,237,639
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 chr16:48,403,338...48,501,453
Ensembl chr16:48,403,526...48,498,896
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:91,317,671...91,644,572
Ensembl chr  X:91,323,768...91,644,567
JBrowse link
G EML1 EMAP like 1 ISO OMIM NCBI chr 7:120,703,282...120,890,792
Ensembl chr 7:120,703,313...120,890,794
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 chr12:48,567,329...48,735,836
Ensembl chr12:48,567,337...48,735,838
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:nonsense mutation: :p.R186C (971C>T) (human)
DNA:deletions
RGD PMID:9618162 PMID:19050731 PMID:19098909 RGD:12904718 RGD:12904725 RGD:12904762 NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,768...91,644,567
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 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:55,749,409...55,818,738
Ensembl chr14:55,749,472...55,818,012
JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,494...6,045,818
JBrowse link
G CALM3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,506,979...52,516,704
Ensembl chr 6:52,506,674...52,516,703
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,415,550...85,710,752
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 6:52,543,737...52,554,258
Ensembl chr 6:52,543,161...52,554,082
JBrowse link
G DAG1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
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: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
RGD
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: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:30564623 PMID:31041397 PMID:31671740 RGD:11667969 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
JBrowse link
G FKTN fukutin ISO DNA:insertion:exon:c.1167insA (human)
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
DNA:missense mutation, nonsense mutation, insertions: :multiple
CTD Direct Evidence: marker/mechanism
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 chr 1:246,852,387...246,916,650 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 1:246,768,098...246,847,084
Ensembl chr 1:246,768,150...246,916,650
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,246,468...32,253,148
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 6:52,534,952...52,541,115
Ensembl chr 6:52,534,954...52,536,910
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
G LOC102159820 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 5:3,114,410...3,203,378
Ensembl chr 5:2,980,069...3,204,803
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
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
DNA:missense mutations, splice-site mutations, deletions: :multiple
DNA:deletions, splice-site mutation:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation: :multiple
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:30937090 PMID:30961548 RGD:11065512 RGD:11071487 RGD:11532772 RGD:1554293 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:26060116 RGD:11532770 NCBI chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133
JBrowse link
G POMK protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:11,957,615...11,978,919 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 mutations, nonsense mutation, frameshift mutation: :multiple
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)
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:32860008 RGD:11073321 RGD:11532686 RGD:731235 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
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 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,417,173
JBrowse link
G PRKD2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,559,066...52,599,174
Ensembl chr 6:52,559,393...52,599,132
JBrowse link
G PTGIR prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,522,639...52,527,338
Ensembl chr 6:52,522,630...52,527,613
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 5:28,247,409...28,276,276
Ensembl chr 5:28,247,412...28,276,273
JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,601,934...52,627,910
Ensembl chr 6:52,601,934...52,627,902
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
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:30937090 PMID:30961548 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12682
    disease of anatomical entity 12220
      nervous system disease 9962
        Nervous System Malformations 1012
          complex cortical dysplasia with other brain malformations 693
            Malformations of Cortical Development, Group II 130
              lissencephaly + 57
              periventricular nodular heterotopia + 13
Path 2
Term Annotations click to browse term
  disease 12682
    Developmental Diseases 8987
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7859
        genetic disease 7426
          monogenic disease 5461
            autosomal genetic disease 4533
              autosomal dominant disease 2900
                complex cortical dysplasia with other brain malformations 693
                  Malformations of Cortical Development, Group II 130
                    lissencephaly + 57
                    periventricular nodular heterotopia + 13
paths to the root