Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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



show annotations for term's descendants           Sort by:
 
Malformations of Cortical Development, Group II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm2 acyl-CoA synthetase medium-chain family member 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:173,916,368...173,955,116
Ensembl chr 1:173,916,368...173,955,116
JBrowse link
G Adam19 ADAM metallopeptidase domain 19 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:30,491,362...30,583,115
Ensembl chr10:30,491,405...30,583,105
JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:131,830,668...131,876,311 JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912
JBrowse link
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr15:11,117,360...11,262,818
Ensembl chr15:11,118,886...11,263,106
JBrowse link
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:99,019,847...99,021,375
Ensembl chr  X:99,019,000...99,021,503
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:78,718,963...79,018,023
Ensembl chr  X:78,451,593...79,017,592
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
JBrowse link
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:31256877 NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 2:61,864,886...61,976,688
Ensembl chr 2:61,864,970...61,976,688
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:83,479,139...83,497,011
Ensembl chr 1:83,479,147...83,487,169
JBrowse link
G Evpl envoplakin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:101,458,421...101,474,687
Ensembl chr10:101,458,216...101,474,763
JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 5:57,065,739...57,071,880
Ensembl chr 5:57,065,747...57,071,738
JBrowse link
G Fam47a family with sequence similarity 47, member A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:42,762,231...42,763,887
Ensembl chr  X:42,762,229...42,763,883
JBrowse link
G Filip1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:80,761,283...80,956,556
Ensembl chr 8:80,764,604...80,922,549
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:103,964,168...104,113,864
Ensembl chr  X:104,043,194...104,111,968
JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:65,826,273...65,835,361
Ensembl chr  X:65,826,574...65,835,361
JBrowse link
G Grid1 glutamate ionotropic receptor delta type subunit 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr16:10,138,564...10,885,803
Ensembl chr16:10,138,925...10,885,808
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539
JBrowse link
G LOC684932 similar to Zinc finger protein 75 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:134,035,116...134,053,765
Ensembl chr  X:134,036,143...134,051,519
JBrowse link
G Lrrc66 leucine rich repeat containing 66 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr14:34,581,318...34,604,534
Ensembl chr14:34,581,240...34,604,541
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430
JBrowse link
G Meis3 Meis homeobox 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:76,861,267...76,872,691
Ensembl chr 1:76,861,924...76,872,691
JBrowse link
G Mettl1 methyltransferase like 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:62,864,816...62,869,202
Ensembl chr 7:62,864,853...62,869,202
JBrowse link
G Mroh2a maestro heat-like repeat family member 2A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607
JBrowse link
G Muc16 mucin 16, cell surface associated ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:68,174,051...68,176,449
Ensembl chr  X:68,173,987...68,176,666
JBrowse link
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:88,347,595...88,350,393
Ensembl chr  X:88,347,598...88,350,393
JBrowse link
G Nxpe3 neurexophilin and PC-esterase domain family, member 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr11:44,726,905...44,777,694
Ensembl chr11:44,727,069...44,777,694
JBrowse link
G Parp14 poly (ADP-ribose) polymerase family, member 14 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:34,170,959...34,293,498 JBrowse link
G Pi4k2b phosphatidylinositol 4-kinase type 2 beta ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr14:58,221,790...58,248,716
Ensembl chr14:58,220,437...58,248,673
JBrowse link
G Pla2g4e phospholipase A2, group IVE ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 3:107,132,540...107,198,609
Ensembl chr 3:107,132,541...107,198,233
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:83,651,856...83,666,046
Ensembl chr 1:83,647,748...83,665,063
JBrowse link
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:42,313,554...42,318,451
Ensembl chr  X:42,305,373...42,318,552
JBrowse link
G Prr12 proline rich 12 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:95,510,015...95,534,002
Ensembl chr 1:95,509,931...95,533,652
JBrowse link
G Ptprt protein tyrosine phosphatase, receptor type, T ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 3:150,189,343...151,287,977
Ensembl chr 3:150,194,859...151,288,124
JBrowse link
G Rbmx2 RNA binding motif protein, X-linked 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:127,888,514...127,896,239
Ensembl chr  X:127,888,438...127,896,869
JBrowse link
G Rfx1 regulatory factor X1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr19:24,061,336...24,092,044
Ensembl chr19:24,061,336...24,092,044
JBrowse link
G Slc13a1 solute carrier family 13 member 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 4:52,569,179...52,647,126
Ensembl chr 4:52,569,375...52,647,099
JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:14,213,727...14,222,498
Ensembl chr  X:14,213,729...14,222,498
JBrowse link
G Stx7 syntaxin 7 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:26395554 NCBI chr 1:21,197,075...21,237,320
Ensembl chr 1:21,197,075...21,237,279
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275
JBrowse link
G Thada THADA, armadillo repeat containing ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:10,183,942...10,488,007
Ensembl chr 6:10,183,982...10,487,159
JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:25326637 NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26395554 PMID:26467025 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:18414213 PMID:25741868 PMID:30744660 NCBI chr 7:130,113,214...130,116,880 JBrowse link
G Tubgcp2 tubulin, gamma complex associated protein 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:31630790 NCBI chr 1:194,791,113...194,817,807
Ensembl chr 1:194,792,142...194,817,619
JBrowse link
G Uri1 URI1, prefoldin-like chaperone ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:90,646,392...90,704,811
Ensembl chr 1:90,646,393...90,709,026
JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
JBrowse link
G Zmat1 zinc finger, matrin-type 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:98,168,388...98,199,415
Ensembl chr  X:98,168,456...98,199,733
JBrowse link
G Zscan2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:134,833,701...134,848,957
Ensembl chr 1:134,833,871...134,848,952
JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISS
ISO
OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome
MouseDO
ClinVar
PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
G Actg1 actin, gamma 1 ISS OMIM:243310 | OMIM:614583 MouseDO NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
JBrowse link
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by OMIM:243310
OMIM
ClinVar
PMID:1415343 PMID:9536098 PMID:10327243 PMID:10411937 PMID:10928857 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2
ClinVar Annotator: match by OMIM:614583
OMIM
ClinVar
PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 More... NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
JBrowse link
CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar
PMID:34077761 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
JBrowse link
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by OMIM:300067
ClinVar Annotator: match by term: Lissencephaly, X-linked
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
ClinVar
CTD
RGD
PMID:9489699 PMID:9489700 PMID:11468322 PMID:12552055 PMID:17111359 More... RGD:12904735, RGD:12904728, RGD:11568595 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
ClinVar Annotator: match by term: Lissencephaly classic
ClinVar Annotator: match by term: Type 1 lissencephaly
ClinVar PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 More... NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14
ClinVar Annotator: match by term: Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
ClinVar Annotator: match by OMIM:615350
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 More... NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:52,888,963...52,930,341
Ensembl chr 6:52,888,963...52,930,394
JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:52,828,069...52,888,599
Ensembl chr 6:52,827,661...52,888,628
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
ClinVar Annotator: match by term: ISPD-Related Disorder
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
ClinVar Annotator: match by OMIM:614643
OMIM
ClinVar
PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:9536098 More... NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:52,935,387...52,995,552
Ensembl chr 6:52,935,387...52,995,540
JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:53,051,336...53,055,510
Ensembl chr 6:53,051,354...53,055,579
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:16199547 PMID:16427280 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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:16199547 PMID:16427280 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar PMID:23877401 PMID:25558065 NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Fkrp fukutin related protein ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 More... NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
G Fktn fukutin ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:236670 MouseDO NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome
ClinVar
OMIM
PMID:9536098 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15037715 More... NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
OMIM:236670
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar
MouseDO
PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 More... NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
ClinVar Annotator: match by OMIM:615181
OMIM
ClinVar
PMID:16199547 PMID:23453667 PMID:25326635 PMID:25640679 PMID:25741868 More... NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:28492532 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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 chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
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 chr16:65,954,293...66,058,812 JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar Annotator: match by OMIM:615249
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 More... NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
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 chr16:65,928,886...65,954,092 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 chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
ClinVar
OMIM
PMID:23877401 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by OMIM:613150
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
ClinVar
OMIM
PMID:9536098 PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 More... NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar
OMIM
PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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: Muscular dystrophy-dystroglycanopathy (congenital 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:16199547 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
ClinVar Annotator: match by OMIM:613153
OMIM
ClinVar
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:12707439 More... NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 ClinVar PMID:25741868 NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by OMIM:613154
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
ClinVar
OMIM
PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More... NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar Annotator: match by OMIM:614830
OMIM
ClinVar
PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 More... NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 ClinVar
OMIM
PMID:24033266 PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 More... NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
OMIM
ClinVar
RGD
PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 More... RGD:11537476 NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
JBrowse link
lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:29671837 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
JBrowse link
G Arx aristaless related homeobox ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:16900296 PMID:25741868 NCBI chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Posterior Predominant Lissencephaly
ClinVar Annotator: match by term: Lissencephaly
ClinVar PMID:12910438 PMID:25741868 PMID:29706646 PMID:32097630 NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
JBrowse link
G Ctnna2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr 4:109,293,978...110,443,413
Ensembl chr 4:109,293,978...110,443,522
JBrowse link
G Dag1 dystroglycan 1 ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Dcx doublecortin ISS
ISO
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191
ClinVar Annotator: match by term: Lissencephaly
MouseDO
ClinVar
PMID:18414213 PMID:29671837 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22544365 PMID:23883322 PMID:25741868 NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:30471716 NCBI chr 5:135,623,729...135,949,097
Ensembl chr 5:135,623,742...135,945,905
JBrowse link
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar NCBI chr10:887,684...887,760 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 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9620777 PMID:10398434 PMID:10852373 PMID:11093281 More... NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 severity ISO ClinVar Annotator: match by OMIM:607432
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Agyria
ClinVar Annotator: match by term: Lissencephaly
ClinVar Annotator: match by term: Lissencephaly 1
ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
DNA:mutations::
ClinVar
CTD
RGD
PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 More... RGD:11073221 NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple RGD PMID:17559086 RGD:11065022 NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29671837 NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385
JBrowse link
G Tuba1a tubulin, alpha 1A ISO
ISS
DNA:missense mutations:cds:c.790C>T(p.R264C), c.1205G>A(p.R402H),c.1204C>T(p.R402C)(human)
ClinVar Annotator: match by term: Lissencephaly
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191
ClinVar
MouseDO
RGD
PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18728072 More... RGD:12859083 NCBI chr 7:130,113,214...130,116,880 JBrowse link
G Tuba3a tubulin, alpha 3A ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr 4:158,075,083...158,083,972
Ensembl chr 4:158,075,083...158,083,972
JBrowse link
G Tubb2b tubulin, beta 2B class IIb ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:11425694 PMID:23001566 PMID:25741868 PMID:29671837 NCBI chr17:30,747,734...30,750,781
Ensembl chr17:30,747,734...30,750,638
JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:29671837 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
JBrowse link
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:29671837 PMID:29706646 NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
JBrowse link
G Tubg1 tubulin, gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 NCBI chr10:86,052,845...86,059,436
Ensembl chr10:86,052,743...86,059,433
JBrowse link
lissencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO OMIM NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
JBrowse link
lissencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Lissencephaly 10
ClinVar Annotator: match by term: LISSENCEPHALY 10
OMIM
ClinVar
PMID:12910438 PMID:25741868 PMID:29706646 PMID:32097630 NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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 PMID:28492532 NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
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 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Tubulinopathies
ClinVar Annotator: match by term: Lissencephaly 3
ClinVar Annotator: match by OMIM:611603
OMIM
ClinVar
PMID:3680207 PMID:6945576 PMID:17218254 PMID:17584854 PMID:18199681 More... NCBI chr 7:130,113,214...130,116,880 JBrowse link
lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar NCBI chr10:887,684...887,760 JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4
ClinVar Annotator: match by OMIM:614019
OMIM
ClinVar
PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link
lissencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Lissencephaly 5
ClinVar Annotator: match by OMIM:615191
OMIM
ClinVar
PMID:23472759 PMID:25326635 PMID:25741868 PMID:25925986 PMID:28492532 NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
JBrowse link
lissencephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Lissencephaly 6, with microcephaly OMIM
ClinVar
PMID:25521378 PMID:25521379 PMID:25741868 NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650
JBrowse link
lissencephaly 7 with cerebellar hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
JBrowse link
lissencephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: LISSENCEPHALY 8
ClinVar Annotator: match by term: Lissencephaly 8
ClinVar
OMIM
PMID:25741868 PMID:27773428 PMID:28097321 NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385
JBrowse link
lissencephaly 9 with complex brainstem malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION OMIM
ClinVar
PMID:24507697 PMID:25741868 PMID:30471716 NCBI chr 5:135,623,729...135,949,097
Ensembl chr 5:135,623,742...135,945,905
JBrowse link
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum
ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked
ClinVar Annotator: match by synonym: Subcortical laminar heterotopia, X-linked
ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:11468322 PMID:12552055 More... NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
ClinVar Annotator: match by OMIM:614499
OMIM
ClinVar
PMID:22279524 PMID:25741868 PMID:27773430 NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907
JBrowse link
microlissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
JBrowse link
Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISS OMIM:247200 MouseDO NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISS OMIM:247200 MouseDO NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475
JBrowse link
G Mnt MAX network transcriptional repressor ISS OMIM:247200 MouseDO NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISS OMIM:247200 MouseDO NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISS OMIM:247200 MouseDO NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589
JBrowse link
Norman-Roberts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reln reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome
ClinVar Annotator: match by term: Lissencephaly 2
ClinVar Annotator: match by OMIM:257320
ClinVar Annotator: match by term: Lissencephaly 2 (Norman-Roberts type)
OMIM
ClinVar
RGD
PMID:1451539 PMID:2564880 PMID:7682675 PMID:9536098 PMID:10973257 More... RGD:13207512 NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
JBrowse link
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp2 tubulin, gamma complex associated protein 2 ISO ClinVar Annotator: match by term: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES ClinVar
OMIM
PMID:31630790 NCBI chr 1:194,791,113...194,817,807
Ensembl chr 1:194,792,142...194,817,619
JBrowse link
periventricular nodular heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO
ISS
ClinVar Annotator: match by term: Periventricular Heterotopia
OMIM:300049 | OMIM:608097 | OMIM:608098 | OMIM:612881 | OMIM:615544
ClinVar
MouseDO
NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
JBrowse link
G Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657
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:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
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:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Ermard ER membrane-associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:55,983,312...56,004,569
Ensembl chr 1:55,983,403...56,002,687
JBrowse link
G Flna filamin A ISO
IMP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar Annotator: match by term: X-linked periventricular heterotopia
DNA:deletion:cds:c.7941_7942delCT (human)
ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300049
ClinVar
CTD
OMIM
RGD
PMID:3658675 PMID:8290091 PMID:9071288 PMID:9536098 PMID:9800904 More... RGD:1598953, RGD:11565137, RGD:11565112, RGD:11564351 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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:152,054,547...152,056,757
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
Periventricular Nodular Heterotopia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, autosomal recessive
ClinVar Annotator: match by OMIM:608097
DNA:missense mutations, deletion:exon:multiple
OMIM
ClinVar
RGD
PMID:12682315 PMID:14647276 PMID:18414213 PMID:23812912 PMID:25741868 More... RGD:1300288 NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
JBrowse link
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15668422 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
Periventricular Nodular Heterotopia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermard ER membrane-associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6
ClinVar Annotator: match by OMIM:615544
OMIM
ClinVar
PMID:24056535 PMID:25741868 NCBI chr 1:55,983,312...56,004,569
Ensembl chr 1:55,983,403...56,002,687
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 7
ClinVar Annotator: match by term: Periventricular nodular heterotopia 7
ClinVar
OMIM
PMID:25741868 PMID:27694961 PMID:32238909 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
JBrowse link
Periventricular Nodular Heterotopia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 8 ClinVar
OMIM
PMID:25741868 PMID:28868155 NCBI chr10:43,997,983...44,014,543
Ensembl chr10:43,997,986...44,014,434
JBrowse link
Periventricular Nodular Heterotopia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 9
ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 9
OMIM
ClinVar
PMID:25741868 PMID:29738522 PMID:30150678 PMID:31317654 NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
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:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Eml1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain ClinVar
OMIM
PMID:24859200 PMID:25741868 PMID:28556411 NCBI chr 6:127,283,968...127,457,246
Ensembl chr 6:127,284,029...127,457,246
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 More... NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
JBrowse link
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO
IMP
DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)
RGD PMID:19050731 PMID:19098909 PMID:9618162 RGD:12904718, RGD:12904725, RGD:12904762 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
Walker-Warburg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207
JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISS OMIM:236670 | OMIM:253280 MouseDO NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
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 1:77,546,900...77,558,631
Ensembl chr 1:77,546,900...77,558,630
JBrowse link
G Dag1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18923033 PMID:24824861 RGD:11537405, RGD:11537406 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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: Muscle eye brain disease
ClinVar Annotator: match by term: Pagon syndrome
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 More... RGD:11667969 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation, insertions: :multiple
DNA:insertion:exon:c.1167insA (human)
ClinVar
CTD
RGD
PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:14627679 More... RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
JBrowse link
G Fsd1l fibronectin type III and SPRY domain containing 1-like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:68,258,877...68,334,931
Ensembl chr 5:68,258,932...68,334,928
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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 1:77,564,512...77,568,371
Ensembl chr 1:77,564,515...77,568,371
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by OMIM:253280
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)
DNA:missense mutations, splice-site mutations, deletions: :multiple
DNA:deletions, splice-site mutation:exon, intron:multiple
DNA:missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar
CTD
RGD
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... RGD:11071487, RGD:1554293, RGD:11065512, RGD:11532772 NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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 chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
JBrowse link
G Pomk protein-O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple
ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Pagon syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)
DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple
ClinVar
CTD
RGD
PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16199547 More... RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15894594 RGD:11532761 NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
JBrowse link
G Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376
JBrowse link
G Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979
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:27733679 PMID:28492532 NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858
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 Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
JBrowse link
X-linked lissencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: LISSENCEPHALY, X-LINKED, 1 ClinVar
OMIM
PMID:9489699 PMID:9489700 PMID:11468322 PMID:17111359 PMID:18414213 More... NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Type 1 lissencephaly ClinVar PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 More... NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
JBrowse link
X-linked lissencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Lissencephaly 2, X-linked
ClinVar Annotator: match by term: X-linked lissencephaly 2
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:300215
OMIM
ClinVar
RGD
PMID:11891829 PMID:11971879 PMID:12379852 PMID:12874405 PMID:12874418 More... RGD:11565832 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        Nervous System Malformations 1653
          complex cortical dysplasia with other brain malformations 1195
            Malformations of Cortical Development, Group II 142
              lissencephaly + 71
              periventricular nodular heterotopia + 13
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group II 142
                    lissencephaly + 71
                    periventricular nodular heterotopia + 13
paths to the root