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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


show annotations for term's descendants           Sort by:
 
Malformations of Cortical Development, Group II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm2 acyl-CoA synthetase medium-chain family member 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:119,554,340...119,600,694
Ensembl chr 7:119,554,340...119,600,690
JBrowse link
G Adam19 a disintegrin and metallopeptidase domain 19 (meltrin beta) ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr11:46,054,502...46,147,347
Ensembl chr11:46,055,992...46,147,343
JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr12:112,772,197...112,802,658
Ensembl chr12:112,772,194...112,802,657
JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr11:72,028,717...72,042,460
Ensembl chr11:72,027,963...72,037,509
JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:134,685,650...134,697,775
Ensembl chr  X:134,686,519...134,696,757
JBrowse link
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr14:13,961,283...14,107,316
Ensembl chr14:13,961,440...14,107,302
JBrowse link
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:136,213,972...136,215,513
Ensembl chr  X:136,213,972...136,215,513
JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:7,607,103...7,635,196
Ensembl chr  X:7,607,083...7,635,196
JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr15:85,898,758...86,034,223
Ensembl chr15:85,898,929...86,033,777
Ensembl chr15:85,898,929...86,033,777
JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:79,266,558...79,517,351
Ensembl chr  X:79,266,559...79,517,285
JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:113,297,496...113,836,386
Ensembl chr  X:113,297,510...113,836,386
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 2:5,896,219...5,942,829
Ensembl chr 2:5,896,115...5,942,792
JBrowse link
G Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr  X:82,814,664...85,205,050
Ensembl chr  X:82,948,870...85,206,141
JBrowse link
G Drosha drosha, ribonuclease type III ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr15:12,824,804...12,935,291
Ensembl chr15:12,824,815...12,935,291
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr12:110,601,395...110,666,944
Ensembl chr12:110,601,452...110,666,945
JBrowse link
G Dyrk1b dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1b ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:28,179,447...28,197,910
Ensembl chr 7:28,179,469...28,187,294
JBrowse link
G Evpl envoplakin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr11:116,220,559...116,238,165
Ensembl chr11:116,220,559...116,238,077
JBrowse link
G Fam205a1 family with sequence similarity 205, member A1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 4:42,848,067...42,859,820
Ensembl chr 4:42,848,071...42,853,888
JBrowse link
G Filip1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 9:79,805,018...80,012,851
Ensembl chr 9:79,805,094...80,012,851
JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:28492532 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:140,277,123...140,435,467
Ensembl chr  X:140,342,263...140,435,467
JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:100,729,836...100,738,901
Ensembl chr  X:100,729,873...100,738,895
JBrowse link
G Grid1 glutamate receptor, ionotropic, delta 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr14:34,820,003...35,583,387
Ensembl chr14:34,820,108...35,583,379
JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr17:35,320,525...35,328,142
Ensembl chr17:35,320,405...35,325,099
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:7,930,116...7,948,047
Ensembl chr  X:7,930,120...7,947,889
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr19:25,236,732...25,434,498
Ensembl chr19:25,236,975...25,434,496
JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 9:66,955,382...66,975,484
Ensembl chr 9:66,955,388...66,975,484
JBrowse link
G Lrrc66 leucine rich repeat containing 66 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 5:73,606,642...73,632,421
Ensembl chr 5:73,606,642...73,632,526
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:157,547,822...157,598,715
Ensembl chr  X:157,535,371...157,598,715
JBrowse link
G Meis3 Meis homeobox 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:16,174,012...16,186,510
Ensembl chr 7:16,175,090...16,186,504
JBrowse link
G Mettl1 methyltransferase like 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr10:127,041,549...127,046,365
Ensembl chr10:127,041,414...127,046,365
JBrowse link
G Mroh2a maestro heat-like repeat family member 2A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 1:88,226,991...88,262,289
Ensembl chr 1:88,226,986...88,262,289
JBrowse link
G Muc16 mucin 16 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 9:18,495,445...18,674,821
Ensembl chr 9:18,495,455...18,674,530
JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:103,184,176...103,186,653
Ensembl chr  X:103,184,176...103,186,640
JBrowse link
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:122,394,560...122,397,385
Ensembl chr  X:122,394,565...122,397,401
JBrowse link
G Nxpe3 neurexophilin and PC-esterase domain family, member 3 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr16:55,839,953...55,897,104
Ensembl chr16:55,839,953...55,895,285
JBrowse link
G Parp14 poly (ADP-ribose) polymerase family, member 14 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr16:35,831,892...35,871,518
Ensembl chr16:35,832,874...35,871,544
JBrowse link
G Phka2 phosphorylase kinase alpha 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:160,501,904...160,598,879
Ensembl chr  X:160,502,166...160,598,878
JBrowse link
G Pi4k2b phosphatidylinositol 4-kinase type 2 beta ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 5:52,741,561...52,769,344
Ensembl chr 5:52,741,574...52,769,340
JBrowse link
G Pla2g4e phospholipase A2, group IVE ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 2:120,166,412...120,245,630
Ensembl chr 2:120,166,412...120,245,335
JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:28,359,603...28,372,681
Ensembl chr 7:28,359,604...28,372,599
JBrowse link
G Prr12 proline rich 12 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:45,027,701...45,053,334
Ensembl chr 7:45,027,563...45,052,881
JBrowse link
G Ptprt protein tyrosine phosphatase, receptor type, T ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 2:161,521,988...162,661,147
Ensembl chr 2:161,521,990...162,661,147
JBrowse link
G Rbmx2 RNA binding motif protein, X-linked 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:48,695,004...48,710,719
Ensembl chr  X:48,695,004...48,710,723
JBrowse link
G Rfx1 regulatory factor X, 1 (influences HLA class II expression) ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 8:84,063,564...84,097,001
Ensembl chr 8:84,066,834...84,096,992
JBrowse link
G Slc13a1 solute carrier family 13 (sodium/sulfate symporters), member 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 6:24,088,283...24,168,119
Ensembl chr 6:24,088,283...24,168,092
JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:8,271,381...8,280,179
Ensembl chr  X:8,271,133...8,280,179
JBrowse link
G Stx7 syntaxin 7 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:26395554 NCBI chr10:24,149,289...24,188,961
Ensembl chr10:24,149,302...24,190,222
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:8,154,470...8,176,181
Ensembl chr  X:8,154,472...8,176,181
JBrowse link
G Thada thyroid adenoma associated ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr17:84,190,056...84,466,246
Ensembl chr17:84,190,076...84,466,205
JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 5:64,953,092...64,970,942
Ensembl chr 5:64,952,031...64,960,097
JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr16:32,644,099...32,683,493
Ensembl chr16:32,643,874...32,683,493
JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:73,433,705...73,435,343
Ensembl chr  X:73,433,705...73,435,344
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:18414213 PMID:25741868 PMID:30744660 NCBI chr15:98,949,847...98,953,501
Ensembl chr15:98,949,837...98,953,703
JBrowse link
G Tubgcp2 tubulin, gamma complex associated protein 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar PMID:31630790 NCBI chr 7:139,995,955...140,036,674
Ensembl chr 7:139,995,955...140,036,669
JBrowse link
G Uri1 URI1, prefoldin-like chaperone ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:37,959,992...38,023,564
Ensembl chr 7:37,959,992...38,023,551
JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:30,240,138...30,281,908
Ensembl chr 7:30,240,138...30,280,419
JBrowse link
G Zmat1 zinc finger, matrin type 1 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr  X:134,971,372...135,009,209
Ensembl chr  X:134,971,372...135,009,209
JBrowse link
G Zscan2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Neuronal migration disorder ClinVar NCBI chr 7:80,860,737...80,878,675
Ensembl chr 7:80,860,920...80,876,537
JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISS
ISO
OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome
MouseDO
ClinVar
PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 PMID:28492532 NCBI chr 5:142,903,115...142,907,976
Ensembl chr 5:142,903,115...142,906,754
JBrowse link
G Actg1 actin, gamma, cytoplasmic 1 ISS OMIM:243310 | OMIM:614583 MouseDO NCBI chr11:120,345,687...120,348,495
Ensembl chr11:120,345,690...120,348,542
JBrowse link
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by OMIM:243310
OMIM
ClinVar
PMID:1415343 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:18414213 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29220674 PMID:29261186 PMID:32860008 NCBI chr 5:142,903,115...142,907,976
Ensembl chr 5:142,903,115...142,906,754
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, cytoplasmic 1 ISO ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2
ClinVar Annotator: match by OMIM:614583
OMIM
ClinVar
PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 NCBI chr11:120,345,687...120,348,495
Ensembl chr11:120,345,690...120,348,542
JBrowse link
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
ClinVar Annotator: match by OMIM:300067
OMIM
ClinVar
PMID:9489699 PMID:9489700 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 PMID:29706646 PMID:32238909, PMID:11071144, PMID:12838518, PMID:27292316 RGD:12904735, RGD:12904728, RGD:11568595 NCBI chr  X:143,855,842...143,933,396
Ensembl chr  X:143,855,842...143,933,311
JBrowse link
G Mnt max binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr11:74,830,806...74,845,725
Ensembl chr11:74,830,920...74,845,725
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
ClinVar Annotator: match by term: Type 1 lissencephaly
ClinVar Annotator: match by term: Lissencephaly classic
ClinVar PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 PMID:11502906 PMID:12885786 PMID:14581661 PMID:15007136 PMID:17664403 PMID:18414213 PMID:19667223 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:27891766 PMID:32238909 NCBI chr11:74,673,949...74,724,384
Ensembl chr11:74,673,949...74,724,670
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 4:53,714,107...53,765,785
Ensembl chr 4:53,713,998...53,777,890
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
ClinVar Annotator: match by term: Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14
ClinVar Annotator: match by OMIM:615350
OMIM
ClinVar
PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953 PMID:31211170 NCBI chr 9:108,049,239...108,051,923
Ensembl chr 9:108,049,242...108,052,801
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 chr12:36,157,124...36,197,291
Ensembl chr12:36,157,114...36,197,291
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 chr12:36,091,835...36,156,841
Ensembl chr12:36,091,835...36,158,080
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
ClinVar Annotator: match by term: ISPD-Related Disorder
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
ClinVar Annotator: match by OMIM:614643
OMIM
ClinVar
PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:10738921 PMID:18414213 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 PMID:24033266 PMID:24120487 PMID:25326635 PMID:25741868 PMID:26404900 PMID:26467025 PMID:27363342 PMID:28492532 PMID:28688748 PMID:28973083 PMID:29260090 PMID:29382405 NCBI chr12:36,380,575...36,689,503
Ensembl chr12:36,381,450...36,689,503
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 chr12:36,208,329...36,256,396
Ensembl chr12:36,208,345...36,253,398
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 chr12:36,314,169...36,318,452
Ensembl chr12:36,314,139...36,318,452
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 beta 1,2-N-acetylglucosaminyltransferase 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 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
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 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
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 chr19:5,038,826...5,041,134
Ensembl chr19:5,038,826...5,041,131
Ensembl chr19:5,038,826...5,041,131
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 9:108,204,861...108,263,977
Ensembl chr 9:108,204,634...108,263,958
JBrowse link
G Fkrp fukutin related protein ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27848944 PMID:28454995 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740 NCBI chr 7:16,809,267...16,816,732
Ensembl chr 7:16,809,246...16,816,732
JBrowse link
G Fktn fukutin ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26923585 PMID:27065010 PMID:28492532 PMID:28785732 PMID:30060766 NCBI chr 4:53,714,107...53,765,785
Ensembl chr 4:53,713,998...53,777,890
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:236670 MouseDO NCBI chr 8:72,814,598...73,353,721
Ensembl chr 8:72,814,599...73,353,540
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar
OMIM
PMID:11320179 PMID:12369018 PMID:15037715 PMID:15637732 PMID:16575835 PMID:17559086 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18752264 PMID:19222032 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25326635 PMID:25741868 PMID:28116189 PMID:28492532 PMID:28556411 PMID:31319225 PMID:32860008 NCBI chr 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
OMIM:236670
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar
MouseDO
PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr12:87,106,861...87,147,968
Ensembl chr12:87,106,861...87,147,968
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10
OMIM
ClinVar
PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:122,080,939...122,097,366
Ensembl chr10:122,078,114...122,097,371
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 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
ClinVar Annotator: match by OMIM:615181
OMIM
ClinVar
PMID:23453667 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29273094 PMID:29302074 NCBI chr13:13,954,474...13,999,103
Ensembl chr13:13,954,469...13,999,103
JBrowse link
G Tbce tubulin-specific chaperone 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 chr13:13,997,947...14,039,650
Ensembl chr13:13,997,949...14,039,638
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 chr 8:25,998,688...26,015,610
Ensembl chr 8:25,998,722...26,015,650
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 chr 8:26,021,421...26,119,618
Ensembl chr 8:26,021,421...26,119,224
JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar Annotator: match by OMIM:615249
OMIM
ClinVar
PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 NCBI chr 8:25,980,604...25,994,121
Ensembl chr 8:25,980,604...25,994,133
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 chr 8:26,119,368...26,143,875
Ensembl chr 8:26,119,368...26,151,790
JBrowse link
G Thap1 THAP domain containing, apoptosis associated protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:26,158,169...26,164,151
Ensembl chr 8:26,158,141...26,164,151
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 chr19:5,038,826...5,041,134
Ensembl chr19:5,038,826...5,041,131
Ensembl chr19:5,038,826...5,041,131
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by OMIM:613150
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
ClinVar
OMIM
PMID:15894594 PMID:16701995 PMID:17559086 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22958903 PMID:24002165 PMID:25267602 PMID:25741868 PMID:26467025 PMID:26495167 PMID:27854218 PMID:28492532 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 NCBI chr12:87,106,861...87,147,968
Ensembl chr12:87,106,861...87,147,968
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 beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar
OMIM
PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27493216 PMID:28492532 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
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 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
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: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
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:14647208 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20236121 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:28492532 NCBI chr 7:16,809,267...16,816,732
Ensembl chr 7:16,809,246...16,816,732
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by OMIM:613154
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
ClinVar
OMIM
PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:72,814,598...73,353,721
Ensembl chr 8:72,814,599...73,353,540
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 beta 1,4-N-acetylglucosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar Annotator: match by OMIM:614830
OMIM
ClinVar
PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 PMID:27066570 PMID:28492532 NCBI chr 9:121,981,606...121,996,053
Ensembl chr 9:121,981,606...121,997,110
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 ClinVar
OMIM
PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 NCBI chr 9:108,204,861...108,263,977
Ensembl chr 9:108,204,634...108,263,958
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 9:108,204,861...108,263,977
Ensembl chr 9:108,204,634...108,263,958
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr 7:16,809,267...16,816,732
Ensembl chr 7:16,809,246...16,816,732
JBrowse link
G Fktn fukutin ISO
IEA
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
OMIM:253800
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
OMIM
ClinVar
MouseDO
PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:30060766, PMID:11445638 RGD:11537476 NCBI chr 4:53,714,107...53,765,785
Ensembl chr 4:53,713,998...53,777,890
JBrowse link
lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox IEA
ISS
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:93,286,507...93,298,357
Ensembl chr  X:93,286,445...93,298,357
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Lissencephaly
ClinVar Annotator: match by term: Posterior Predominant Lissencephaly
ClinVar PMID:12910438 PMID:29706646 PMID:32097630 NCBI chr10:53,273,441...53,379,883
Ensembl chr10:53,273,443...53,379,947
JBrowse link
G Ctnna2 catenin (cadherin associated protein), alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr 6:76,881,637...77,979,815
Ensembl chr 6:76,881,637...77,979,699
JBrowse link
G Dag1 dystroglycan 1 IEA OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr 9:108,204,861...108,263,977
Ensembl chr 9:108,204,634...108,263,958
JBrowse link
G Dcx doublecortin IEA
ISS
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:143,855,842...143,933,396
Ensembl chr  X:143,855,842...143,933,311
JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22544365 PMID:23883322 PMID:25741868 NCBI chr 4:45,316,613...45,320,616
Ensembl chr 4:45,316,613...45,342,732
JBrowse link
G Lamb1 laminin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:31,265,146...31,329,644
Ensembl chr12:31,265,234...31,329,644
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:30471716 NCBI chr 4:123,349,633...123,687,802
Ensembl chr 4:123,349,633...123,684,360
JBrowse link
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar NCBI chr16:14,159,626...14,159,692
Ensembl chr16:14,159,626...14,159,692
JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 PMID:28492532 NCBI chr16:14,194,527...14,292,188
Ensembl chr16:14,194,535...14,291,372
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 4:15,957,587...15,992,589
Ensembl chr 4:15,957,925...15,992,589
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 PMID:28492532 NCBI chr16:14,163,275...14,192,928
Ensembl chr16:14,163,275...14,192,928
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 severity ISO
IEA
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence
ClinVar Annotator: match by term: Lissencephaly 1
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191
ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
DNA:mutations::
ClinVar Annotator: match by OMIM:607432
OMIM
ClinVar
MouseDO
PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 PMID:11502906 PMID:12885786 PMID:14581661 PMID:15007136 PMID:17664403 PMID:18414213 PMID:19667223 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:27891766 PMID:32238909, PMID:11115846 RGD:11073221 NCBI chr11:74,673,949...74,724,384
Ensembl chr11:74,673,949...74,724,670
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple RGD PMID:17559086 RGD:11065022 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr12:87,106,861...87,147,968
Ensembl chr12:87,106,861...87,147,968
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 5:21,884,454...22,344,705
Ensembl chr 5:21,884,454...22,344,702
JBrowse link
G Tmtc3 transmembrane and tetratricopeptide repeat containing 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:100,443,902...100,487,365
Ensembl chr10:100,443,902...100,487,350
JBrowse link
G Tuba1a tubulin, alpha 1A ISO
ISS
IEA
DNA:missense mutations:cds:c.790C>T(p.R264C), c.1205G>A(p.R402H),c.1204C>T(p.R402C)(human)
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191
MouseDO PMID:17584854 RGD:12859083 NCBI chr15:98,949,847...98,953,501
Ensembl chr15:98,949,837...98,953,703
JBrowse link
Lissencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: LISSENCEPHALY 10 OMIM
ClinVar
PMID:12910438 PMID:32097630 NCBI chr10:53,273,441...53,379,883
Ensembl chr10:53,273,443...53,379,947
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 chr11:72,028,717...72,042,460
Ensembl chr11:72,027,963...72,037,509
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 chr17:26,838,664...26,844,988
Ensembl chr17:26,838,664...26,845,009
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Tubulinopathies
ClinVar Annotator: match by term: Lissencephaly 3
ClinVar Annotator: match by OMIM:611603
OMIM
ClinVar
PMID:3680207 PMID:6945576 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18728072 PMID:18954413 PMID:20466733 PMID:20603323 PMID:21403111 PMID:24088041 PMID:24860126 PMID:25059107 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26633545 PMID:26663670 PMID:28492532 PMID:29706646 PMID:29907476 PMID:30087272 PMID:30744660 PMID:31474318 PMID:32581362 NCBI chr15:98,949,847...98,953,501
Ensembl chr15:98,949,837...98,953,703
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 chr16:14,159,626...14,159,692
Ensembl chr16:14,159,626...14,159,692
JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:14,194,527...14,292,188
Ensembl chr16:14,194,535...14,291,372
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4
ClinVar Annotator: match by OMIM:614019
OMIM
ClinVar
PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26206584 PMID:26467025 PMID:28492532 NCBI chr16:14,163,275...14,192,928
Ensembl chr16:14,163,275...14,192,928
JBrowse link
Lissencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb1 laminin B1 ISO ClinVar Annotator: match by term: Lissencephaly 5
ClinVar Annotator: match by OMIM:615191
OMIM
ClinVar
PMID:23472759 PMID:25326635 PMID:25741868 PMID:25925986 NCBI chr12:31,265,146...31,329,644
Ensembl chr12:31,265,234...31,329,644
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 p80 (WD40-containing) subunit B 1 ISO ClinVar Annotator: match by term: Lissencephaly 6, with microcephaly OMIM
ClinVar
PMID:25521378 PMID:25521379 NCBI chr 8:95,081,175...95,099,874
Ensembl chr 8:95,081,186...95,103,149
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 5:24,407,597...24,423,587
Ensembl chr 5:24,418,241...24,423,530
JBrowse link
Lissencephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc3 transmembrane and tetratricopeptide repeat containing 3 ISO ClinVar Annotator: match by term: LISSENCEPHALY 8
ClinVar Annotator: match by term: Lissencephaly 8
ClinVar
OMIM
PMID:25741868 PMID:27773428 NCBI chr10:100,443,902...100,487,365
Ensembl chr10:100,443,902...100,487,350
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 4:123,349,633...123,687,802
Ensembl chr 4:123,349,633...123,684,360
JBrowse link
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum
ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked
ClinVar Annotator: match by synonym: Subcortical laminar heterotopia, X-linked
ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 NCBI chr  X:143,855,842...143,933,396
Ensembl chr  X:143,855,842...143,933,311
JBrowse link
Lissencephaly, X-Linked, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Lissencephaly 2, X-linked
ClinVar Annotator: match by term: X-linked lissencephaly 2
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:300215
OMIM
ClinVar
PMID:11891829 PMID:11971879 PMID:12379852 PMID:12874405 PMID:12874418 PMID:14722918 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID:19606478 PMID:20300201 PMID:22252899 PMID:22922607 PMID:23246292 PMID:23757202 PMID:24781210 PMID:25741868 PMID:26029707 PMID:28492532, PMID:12379852 RGD:11565832 NCBI chr  X:93,286,507...93,298,357
Ensembl chr  X:93,286,445...93,298,357
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 chr10:95,174,739...95,324,138
Ensembl chr10:95,174,746...95,324,133
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 IEA OMIM:247200 MouseDO NCBI chr11:75,177,643...75,190,483
Ensembl chr11:75,177,643...75,191,241
JBrowse link
G Hic1 hypermethylated in cancer 1 IEA OMIM:247200 MouseDO NCBI chr11:75,161,377...75,170,255
Ensembl chr11:75,164,565...75,169,519
JBrowse link
G Mnt max binding protein IEA OMIM:247200 MouseDO NCBI chr11:74,830,806...74,845,725
Ensembl chr11:74,830,920...74,845,725
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 IEA OMIM:247200 MouseDO NCBI chr11:74,673,949...74,724,384
Ensembl chr11:74,673,949...74,724,670
JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide IEA OMIM:247200 MouseDO NCBI chr11:75,732,887...75,765,841
Ensembl chr11:75,732,869...75,765,845
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
IMP
ClinVar Annotator: match by term: Norman-Roberts syndrome
ClinVar Annotator: match by term: Lissencephaly 2
ClinVar Annotator: match by OMIM:257320
ClinVar Annotator: match by term: Lissencephaly 2 (Norman-Roberts type)
OMIM
ClinVar
PMID:1451539 PMID:2564880 PMID:7682675 PMID:10973257 PMID:14515139 PMID:14593429 PMID:16311013 PMID:18414213 PMID:19319887 PMID:19435634 PMID:20697953 PMID:23287318 PMID:23334996 PMID:23757202 PMID:24385848 PMID:24467814 PMID:24828792 PMID:25167861 PMID:25620207 PMID:25648840 PMID:25741868 PMID:26046367 PMID:26302956 PMID:26459092 PMID:26467025 PMID:26544041 PMID:26901136 PMID:27064498 PMID:28419454 PMID:28492532 PMID:28677532 PMID:29056246 PMID:29358611 PMID:29706646 PMID:29969175 PMID:30891068 PMID:31134136, PMID:28123028 RGD:13207512 NCBI chr 5:21,884,454...22,344,705
Ensembl chr 5:21,884,454...22,344,702
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 7:139,995,955...140,036,674
Ensembl chr 7:139,995,955...140,036,669
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 (brefeldin A-inhibited) ISO
ISS
ClinVar Annotator: match by term: Periventricular Heterotopia
OMIM:300049 | OMIM:608097 | OMIM:608098 | OMIM:612881 | OMIM:615544
ClinVar
MouseDO
NCBI chr 2:166,805,451...166,898,052
Ensembl chr 2:166,805,588...166,898,052
JBrowse link
G Bag6 BCL2-associated athanogene 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr17:35,135,156...35,147,321
Ensembl chr17:35,135,178...35,147,322
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:74,273,217...74,282,333
Ensembl chr  X:74,273,217...74,282,337
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:74,254,674...74,261,563
Ensembl chr  X:74,261,032...74,261,374
Ensembl chr  X:74,261,032...74,261,374
JBrowse link
G Ermard ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:15,041,551...15,090,045
Ensembl chr17:15,041,208...15,090,044
JBrowse link
G Flna filamin, alpha ISO
IEA
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar Annotator: match by term: X-linked periventricular heterotopia
OMIM:300049 | OMIM:608097 | OMIM:608098 | OMIM:612881 | OMIM:615544
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
MouseDO
CTD
OMIM
PMID:3658675 PMID:8290091 PMID:9071288 PMID:9800904 PMID:9883725 PMID:10982489 PMID:10982965 PMID:11532987 PMID:11914408 PMID:12410386 PMID:12612583 PMID:14988809 PMID:15194946 PMID:15523633 PMID:15668422 PMID:15864382 PMID:15917206 PMID:15994863 PMID:16299064 PMID:16303888 PMID:16417552 PMID:16596676 PMID:16684786 PMID:16822260 PMID:16835913 PMID:17152064 PMID:17264970 PMID:17546640 PMID:17632775 PMID:18414213 PMID:18805826 PMID:18854860 PMID:20014127 PMID:20598277 PMID:20730588 PMID:20844545 PMID:21520333 PMID:21836662 PMID:21960593 PMID:22366253 PMID:22522697 PMID:23873601 PMID:24088041 PMID:24098143 PMID:25167861 PMID:25614868 PMID:25649377 PMID:25741868 PMID:25817843 PMID:26059211 PMID:26188975 PMID:26404489 PMID:26467025 PMID:26471271 PMID:26633545 PMID:26686323 PMID:26804200 PMID:27193221 PMID:28133863 PMID:28425981 PMID:28428218 PMID:28454995 PMID:28492532 PMID:28798025 PMID:29024177 PMID:29706646 PMID:30561107 PMID:30986657 PMID:31064749, PMID:9883725, PMID:23873601, PMID:11532987, PMID:22076441 RGD:1598953, RGD:11565137, RGD:11565112, RGD:11564351 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
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 chr13:99,421,464...99,516,602
Ensembl chr13:99,421,446...99,516,540
JBrowse link
G Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:64,884,480...65,217,826
Ensembl chr18:64,887,705...65,217,828
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:74,270,816...74,273,135
Ensembl chr  X:74,270,812...74,273,135
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:74,281,900...74,295,319
Ensembl chr  X:74,281,912...74,290,151
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 (brefeldin A-inhibited) ISO ClinVar Annotator: match by term: Heterotopia, periventricular, autosomal recessive
ClinVar Annotator: match by OMIM:608097
DNA:missense mutations, deletion:exon:multiple
OMIM
ClinVar
PMID:14647276 PMID:18414213 PMID:23812912 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532, PMID:14647276 RGD:1300288 NCBI chr 2:166,805,451...166,898,052
Ensembl chr 2:166,805,588...166,898,052
JBrowse link
G Dchs1 dachsous cadherin related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 7:105,752,989...105,788,355
Ensembl chr 7:105,752,990...105,787,654
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 3:38,884,667...39,011,992
Ensembl chr 3:38,886,940...39,011,985
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, alpha ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15668422 PMID:15917206 PMID:16299064 PMID:16417552 PMID:16822260 PMID:17264970 PMID:17632775 PMID:18414213 PMID:18805826 PMID:20598277 PMID:20844545 PMID:21520333 PMID:21836662 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:31064749 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
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 OMIM
ClinVar
PMID:24056535 PMID:25741868 NCBI chr17:15,041,551...15,090,045
Ensembl chr17:15,041,208...15,090,044
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like 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 chr18:64,884,480...65,217,826
Ensembl chr18:64,887,705...65,217,828
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 chr11:59,211,412...59,228,267
Ensembl chr11:59,211,412...59,228,270
JBrowse link
Periventricular Nodular Heterotopia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 9 OMIM
ClinVar
PMID:25741868 PMID:29738522 PMID:30150678 PMID:31317654 NCBI chr13:99,421,464...99,516,602
Ensembl chr13:99,421,446...99,516,540
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:143,855,842...143,933,396
Ensembl chr  X:143,855,842...143,933,311
JBrowse link
G Eml1 echinoderm microtubule associated protein like 1 ISO
IEA
ClinVar Annotator: match by term: Band heterotopia of brain
OMIM:600348
ClinVar
MouseDO
OMIM
PMID:24859200 PMID:28556411 NCBI chr12:108,371,002...108,539,576
Ensembl chr12:108,370,957...108,539,617
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10441340 PMID:11502906 PMID:14581661 PMID:18414213 PMID:25741868 NCBI chr11:74,673,949...74,724,384
Ensembl chr11:74,673,949...74,724,670
JBrowse link
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)
RGD PMID:19050731, PMID:9618162, PMID:19098909 RGD:12904718, RGD:12904762, RGD:12904725 NCBI chr  X:143,855,842...143,933,396
Ensembl chr  X:143,855,842...143,933,311
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 IGI RGD PMID:20680099 RGD:5148028 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G B3galnt2 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:13,954,474...13,999,103
Ensembl chr13:13,954,469...13,999,103
JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:5,038,826...5,041,134
Ensembl chr19:5,038,826...5,041,131
Ensembl chr19:5,038,826...5,041,131
JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:16,915,379...16,924,032
Ensembl chr 7:16,915,379...16,924,114
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 chr15:85,898,758...86,034,223
Ensembl chr15:85,898,929...86,033,777
Ensembl chr15:85,898,929...86,033,777
JBrowse link
G Col4a1 collagen, type IV, alpha 1 IEA OMIM:236670 | OMIM:253280 MouseDO NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr12:36,380,575...36,689,503
Ensembl chr12:36,381,450...36,689,503
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 7:16,875,317...16,887,301
Ensembl chr 7:16,875,317...16,887,462
JBrowse link
G Dag1 dystroglycan 1 IMP
ISO
IGI
CTD Direct Evidence: marker/mechanism CTD PMID:18923033, PMID:24824861 RGD:11537405, RGD:11537406 NCBI chr 9:108,204,861...108,263,977
Ensembl chr 9:108,204,634...108,263,958
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
ClinVar
CTD
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17055682 PMID:17113772 PMID:17336067 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19299310 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20623375 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21293871 PMID:21296577 PMID:21816046 PMID:22264518 PMID:22908982 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26320847 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27142102 PMID:27363342 PMID:27439679 PMID:27671536 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28492532 PMID:28629604 PMID:28688748 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740, PMID:20236121 RGD:11667969 NCBI chr 7:16,809,267...16,816,732
Ensembl chr 7:16,809,246...16,816,732
JBrowse link
G Fktn fukutin ISO
IMP
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation, insertions: :multiple
DNA:insertion:exon:c.1167insA (human)
ClinVar
CTD
PMID:9690476 PMID:10545611 PMID:11165248 PMID:14627679 PMID:15833426 PMID:17034757 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26633542 PMID:26636822 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:30060766, PMID:9690476, PMID:24824861, PMID:10545611, PMID:19266496 RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 NCBI chr 4:53,714,107...53,765,785
Ensembl chr 4:53,713,998...53,777,890
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 4:53,631,383...53,707,009
Ensembl chr 4:53,631,471...53,707,009
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:108,049,239...108,051,923
Ensembl chr 9:108,049,242...108,052,801
JBrowse link
G Gng8 guanine nucleotide binding protein (G protein), gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:16,891,737...16,895,451
Ensembl chr 7:16,891,786...16,895,436
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 chr 8:72,814,598...73,353,721
Ensembl chr 8:72,814,599...73,353,540
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO
IEA
ClinVar Annotator: match by OMIM:253280
ClinVar Annotator: match by term: Muscle eye brain disease
CTD Direct Evidence: marker/mechanism
OMIM:236670 | OMIM:253280
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
MouseDO
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, PMID:15236414, PMID:11709191, PMID:22554691, PMID:23689641 RGD:11071487, RGD:1554293, RGD:11065512, RGD:11532772 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Pomgnt2 protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:26060116 RGD:11532770 NCBI chr 9:121,981,606...121,996,053
Ensembl chr 9:121,981,606...121,997,110
JBrowse link
G Pomk protein-O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:25,980,604...25,994,121
Ensembl chr 8:25,980,604...25,994,133
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple
ClinVar Annotator: match by term: Pagon syndrome
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)
DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple
ClinVar
CTD
PMID:12369018 PMID:15637732 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:28116189 PMID:28492532 PMID:32860008, PMID:12369018, PMID:15637732, PMID:16575835 RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15894594 RGD:11532761 NCBI chr12:87,106,861...87,147,968
Ensembl chr12:87,106,861...87,147,968
JBrowse link
G Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:16,842,902...16,870,461
Ensembl chr 7:16,842,902...16,870,464
JBrowse link
G Ptgir prostaglandin I receptor (IP) ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:16,906,490...16,910,905
Ensembl chr 7:16,906,490...16,910,905
JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD
ClinVar
PMID:23217329 PMID:24033266 PMID:28492532 NCBI chr10:122,080,939...122,097,366
Ensembl chr10:122,078,114...122,097,371
JBrowse link
G Strn4 striatin, calmodulin binding protein 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:16,815,889...16,840,931
Ensembl chr 7:16,815,889...16,840,931
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: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 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13465
    disease of anatomical entity 12944
      nervous system disease 10487
        Nervous System Malformations 1051
          complex cortical dysplasia with other brain malformations 710
            Malformations of Cortical Development, Group II 131
              lissencephaly + 62
              periventricular nodular heterotopia + 13
Path 2
Term Annotations click to browse term
  disease 13465
    Developmental Diseases 9468
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8289
        genetic disease 7839
          monogenic disease 5724
            autosomal genetic disease 4746
              autosomal dominant disease 3025
                complex cortical dysplasia with other brain malformations 710
                  Malformations of Cortical Development, Group II 131
                    lissencephaly + 62
                    periventricular nodular heterotopia + 13
paths to the root