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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


show annotations for term's descendants           Sort by:
autosomal recessive intellectual developmental disorder 34 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: CRADD-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:28492532 PMID:30167849 More... NCBI chr 7:31,827,131...31,839,796
Ensembl chr 7:31,685,622...31,874,512 		JBrowse link
autosomal recessive intellectual developmental disorder 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | ClinVar Annotator: match by term: PIDD1-related disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chr 1:205,966,392...205,972,359
Ensembl chr 1:205,966,392...205,971,600 		JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:2786228 PMID:9714430 PMID:10327243 PMID:12325076 More... NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		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 OMIM
ClinVar		 PMID:1415343 PMID:2786228 PMID:3445035 PMID:9536098 PMID:9714430 More... NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:25741868 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		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 OMIM
ClinVar		 PMID:3351890 PMID:13680526 PMID:14684684 PMID:18414213 PMID:19419963 More... NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		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:25741868 PMID:34077761 NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552 		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 DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple 		CTD
RGD		 PMID:27292316 PMID:11071144 PMID:12838518 RGD:11568595, RGD:12904735, RGD:12904728 NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:112,227,455...112,304,161 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:53,563,073...53,630,760 		JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:60,197,654...60,213,221
Ensembl chr10:60,197,948...60,213,209 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar PMID:25741868 NCBI chr10:60,031,441...60,090,259
Ensembl chr10:60,032,514...60,090,196 		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 Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 More... NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:73,135,361...73,189,181 		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 A1 ClinVar PMID:23877401 PMID:25558065 NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:211,772,606...211,775,442 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:25741868 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 More... NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | 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 A1 ClinVar PMID:10545611 PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 More... NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:73,135,361...73,189,181 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 More... NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,609,004...12,054,707 		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 A1 OMIM
ClinVar		 PMID:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:35,918,188...35,936,364 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
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 A1 		ClinVar PMID:17559086 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 More... NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:112,486,416...112,525,799 		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 Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 ClinVar PMID:25741868 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257 		JBrowse link
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: RXYLT1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr 7:59,656,274...59,668,140
Ensembl chr 7:59,656,276...59,668,050 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23453667 PMID:24084573 More... NCBI chr17:56,030,409...56,072,952
Ensembl chr17:56,030,409...56,072,952 		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 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 term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 More... NCBI chr16:72,788,842...72,801,122
Ensembl chr16:72,794,831...72,801,103 		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: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23877401 PMID:25558065 PMID:25741868 More... NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:211,772,606...211,775,442 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type 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: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 More... NCBI chr 8:117,616,029...117,622,866 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 term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED OMIM
ClinVar		 PMID:9536098 PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 More... NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:112,486,416...112,525,799 		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 A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 OMIM
ClinVar		 PMID:12588800 PMID:16199547 PMID:19299310 PMID:20816175 PMID:21447391 More... NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:134,870,975...134,880,863 		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 A, 3 | 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 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:134,883,706...134,888,730 		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: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED OMIM
ClinVar		 PMID:6368217 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 More... NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257 		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 term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 OMIM
ClinVar		 PMID:12966029 PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 More... NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,609,004...12,054,707 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 OMIM
ClinVar		 PMID:2328832 PMID:2522420 PMID:7604843 PMID:9536098 PMID:10738921 More... NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:58,848,621...59,181,406 		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 term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED OMIM
ClinVar		 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26436962 PMID:26467025 More... NCBI chr 8:130,522,607...130,538,273
Ensembl chr 8:130,521,459...130,571,943 		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: DAG1-related condition | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 OMIM
ClinVar		 PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 More... NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199 		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 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257 		JBrowse link
G Fktn fukutin ISO
ISS 		ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | 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: Walker-Warburg Syndrome, Fktn-Related | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related
OMIM:253800 		OMIM
ClinVar
MouseDO
RGD		 PMID:9 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 More... RGD:11537476 NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:73,135,361...73,189,181 		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:27240540 PMID:28492532 PMID:29671837 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Macrogyria ClinVar PMID:34863467 NCBI chr19:10,009,983...10,047,138
Ensembl chr19:10,010,031...10,047,124 		JBrowse link
G Arx aristaless related homeobox ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:62,010,097...62,022,009
Ensembl chr  X:62,010,097...62,022,002 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chr13:53,625,584...53,674,489
Ensembl chr13:53,625,584...53,674,489 		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:25741868 PMID:29706646 PMID:32097629 PMID:32097630 NCBI chr20:33,111,114...33,282,182
Ensembl chr20:33,115,438...33,282,238 		JBrowse link
G Cpap centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chr15:34,742,838...34,806,020
Ensembl chr15:34,742,838...34,802,421 		JBrowse link
G Ctnna2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr 4:110,852,265...112,001,351
Ensembl chr 4:110,852,265...112,001,365 		JBrowse link
G Dag1 dystroglycan 1 ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199 		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:10369164 PMID:11175293 PMID:18414213 PMID:23365099 PMID:25741868 More... NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:112,227,455...112,304,161 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Macrogyria ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:135,430,750...135,502,116 		JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Macrogyria ClinVar PMID:25741868 NCBI chr13:50,127,842...50,177,822
Ensembl chr13:50,127,842...50,177,822 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:53,563,073...53,630,760 		JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chr 5:140,908,829...141,234,127
Ensembl chr 5:140,908,837...141,233,890 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:34,256,627...34,291,162 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar Annotator: match by term: Lissencephaly, Recessive | ClinVar Annotator: match by term: Macrogyria
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive 		CTD
ClinVar		 PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... NCBI chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 severity ISO
ISS 		DNA:mutations::
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:1115846 PMID:1671808 PMID:9063735 PMID:9147889 PMID:9536098 More... RGD:11073221 NCBI chr10:60,031,441...60,090,259
Ensembl chr10:60,032,514...60,090,196 		JBrowse link
G Pdzd2 PDZ domain containing 2 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 NCBI chr 2:63,111,650...63,497,520
Ensembl chr 2:63,111,650...63,497,478 		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 5:134,870,971...134,880,864
Ensembl chr 5:134,870,975...134,880,863 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:35,918,188...35,936,364 		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 6:112,486,416...112,525,799
Ensembl chr 6:112,486,416...112,525,799 		JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29671837 NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:13,628,399...14,055,162 		JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:37,151,456...37,196,550
Ensembl chr 7:37,151,456...37,196,540 		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: Isolated Lissencephaly Sequence | 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 7:131,992,151...131,996,850
Ensembl chr 7:131,968,770...131,996,035 		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 chr17:30,953,086...30,956,133
Ensembl chr17:30,952,923...30,955,990 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:29671837 NCBI chr19:68,365,687...68,374,741
Ensembl chr19:68,365,587...68,374,740 		JBrowse link
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chr20:2,917,577...2,921,726
Ensembl chr20:2,917,539...2,921,726 		JBrowse link
G Tubg1 tubulin, gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:28492532 PMID:29671837 PMID:29706637 PMID:31086189 NCBI chr10:86,553,143...86,559,733
Ensembl chr10:86,552,499...86,559,730 		JBrowse link
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: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:112,227,455...112,304,161 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:53,563,073...53,630,760 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia | ClinVar Annotator: match by term: PAFAH1B1-related condition | ClinVar Annotator: match by term: Subcortical band heterotopia OMIM
ClinVar		 PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 More... NCBI chr10:60,031,441...60,090,259
Ensembl chr10:60,032,514...60,090,196 		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: CEP85L-related condition | ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID:25741868 PMID:28492532 PMID:29706646 PMID:32097629 More... NCBI chr20:33,111,114...33,282,182
Ensembl chr20:33,115,438...33,282,238 		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 due to TUBA1A mutation ClinVar PMID:10873396 PMID:22412862 PMID:25741868 PMID:28492532 NCBI chr10:57,154,226...57,163,455
Ensembl chr10:57,154,226...57,163,455 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More... NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,848,582...16,851,452 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Lissencephaly 3 | ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: Lissencephaly type 3 | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: TUBA1A-related condition | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds 		OMIM
ClinVar
CTD
RGD		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... RGD:11067701 NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:131,968,770...131,996,035 		JBrowse link
lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) | ClinVar Annotator: match by term: NDE1-related condition OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		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: LAMB1-related condition | ClinVar Annotator: match by term: Lissencephaly 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23472759 PMID:25326635 More... NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:53,563,073...53,630,760 		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: KATNB1-related condition | ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly OMIM
ClinVar		 PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532 NCBI chr19:9,927,249...9,946,750
Ensembl chr19:9,927,249...9,946,738 		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 PMID:25741868 NCBI chr 4:11,647,098...11,651,606
Ensembl chr 4:11,647,141...11,652,777 		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: TMTC3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr 7:37,151,456...37,196,550
Ensembl chr 7:37,151,456...37,196,540 		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 | ClinVar Annotator: match by term: MACF1-related condition | ClinVar Annotator: match by term: Spectraplakinopathy type I | ClinVar Annotator: match by term: lissencephaly with brainstem hypoplasia OMIM
ClinVar		 PMID:24507697 PMID:25741868 PMID:28492532 PMID:29706646 PMID:30471716 More... NCBI chr 5:140,908,829...141,234,127
Ensembl chr 5:140,908,837...141,233,890 		JBrowse link
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:9618162 PMID:10441340 PMID:10749977 More... NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:112,227,455...112,304,161 		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 chr10:60,780,268...60,793,671
Ensembl chr10:60,780,268...60,793,592 		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 chr10:60,526,417...60,538,102
Ensembl chr10:60,527,680...60,535,816 		JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISS OMIM:247200 MouseDO NCBI chr10:60,512,855...60,517,812
Ensembl chr10:60,500,565...60,523,448 		JBrowse link
G Mnt MAX network transcriptional repressor ISS OMIM:247200 MouseDO NCBI chr10:60,197,654...60,213,221
Ensembl chr10:60,197,948...60,213,209 		JBrowse link
G Myo1c myosin 1C ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chr10:60,996,642...61,019,022
Ensembl chr10:60,996,638...61,019,022 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISS OMIM:247200 MouseDO NCBI chr10:60,031,441...60,090,259
Ensembl chr10:60,032,514...60,090,196 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISS OMIM:247200 MouseDO NCBI chr10:61,082,934...61,120,618
Ensembl chr10:61,106,716...61,114,291 		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: Lissencephaly 2 (Norman-Roberts type) | ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 More... RGD:13207512 NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:13,628,399...14,055,162 		JBrowse link
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csmd3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: PACHYGYRIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT, SEIZURES, AND ARACHNOID CYSTS ClinVar PMID:25741868 NCBI chr 7:80,637,341...81,956,469
Ensembl chr 7:80,638,143...81,956,162 		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 component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | ClinVar Annotator: match by term: TUBGCP2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr 1:204,220,725...204,247,460
Ensembl chr 1:204,221,603...204,242,329 		JBrowse link
Periventricular Laminar Heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef2 ARF guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:175,966,575...176,052,715
Ensembl chr 3:175,966,579...176,052,713 		JBrowse link
periventricular nodular heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr20:3,680,607...3,693,329
Ensembl chr20:3,680,607...3,693,329 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:35420638 NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763 		JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:23105115 PMID:25401298 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 5:13,309,660...13,671,429
Ensembl chr 5:13,309,660...13,671,429 		JBrowse link
G Ermard ER membrane-associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:64,656,414...64,675,803
Ensembl chr 1:64,656,529...64,675,806 		JBrowse link
G Flna filamin A ISO
ISS
IMP 		DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar Annotator: match by term: X-linked periventricular heterotopia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | 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)
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:3265608 PMID:3658675 PMID:6019437 PMID:8230166 PMID:8290091 More... RGD:1598953, RGD:11565137, RGD:11565112, RGD:11564351 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		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 2:32,551,423...32,644,471
Ensembl chr 2:32,551,423...32,657,094 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:25741868 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:14,078,679...14,125,681 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia ClinVar PMID:28492532 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:157,076,609...157,093,768 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:25741868 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		JBrowse link
Periventricular Nodular Heterotopia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef2 ARF guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: ARFGEF2-related condition | ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, deletion:exon:multiple 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... RGD:1300288 NCBI chr 3:175,966,575...176,052,715
Ensembl chr 3:175,966,579...176,052,713 		JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 1:169,516,758...169,550,789
Ensembl chr 1:169,516,762...169,536,639 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		JBrowse link
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 		CTD
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
Periventricular Nodular Heterotopia 5 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: Chromosome 5Q14.3 deletion syndrome, distal ClinVar PMID:25741868 NCBI chr 2:32,551,423...32,644,471
Ensembl chr 2:32,551,423...32,657,094 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 5Q14.3 deletion syndrome, distal ClinVar PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824 		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: ERMARD-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chr 1:64,656,414...64,675,803
Ensembl chr 1:64,656,529...64,675,806 		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: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More... NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824 		JBrowse link
Periventricular Nodular Heterotopia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf1 ARF GTPase 1 ISO ClinVar Annotator: match by term: ARF1-related disorder | ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar		 PMID:25741868 PMID:28868155 PMID:36345169 PMID:37185208 NCBI chr10:44,497,543...44,513,994 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: MAP1B-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 9 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29738522 PMID:30150678 PMID:30979967 More... NCBI chr 2:32,551,423...32,644,471
Ensembl chr 2:32,551,423...32,657,094 		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)
ClinVar Annotator: match by term: Subcortical band heterotopia 		ClinVar
RGD		 PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 PMID:10369164 RGD:12904717 NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:112,227,455...112,304,161 		JBrowse link
G Eml1 EMAP like 1 ISO
IAGP
ISS 		DNA:mutation:exon:
DNA:mutations:cds:
ClinVar Annotator: match by term: Band heterotopia of brain | ClinVar Annotator: match by term: EML1-related condition
OMIM:600348
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 PMID:9236234 More... RGD:597538480, RGD:597538487, RGD:11553226 NCBI chr 6:133,048,271...133,221,642
Ensembl chr 6:133,048,427...133,221,642 		JBrowse link
G Eml1tish EMAP like 1, tish mutant IAGP RGD PMID:9236234 RGD:597538480
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 More... NCBI chr10:60,031,441...60,090,259
Ensembl chr10:60,032,514...60,090,196 		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:112,227,455...112,370,291
Ensembl chr  X:112,227,455...112,304,161 		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 chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:56,030,409...56,072,952
Ensembl chr17:56,030,409...56,072,952 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:211,772,606...211,775,442 		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 7:118,867,450...119,004,859
Ensembl chr 7:118,867,450...119,004,856 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISS OMIM:236670 | OMIM:253280 MouseDO NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:58,848,621...59,181,406 		JBrowse link
G Dag1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18923033 PMID:24824861 RGD:11537405, RGD:11537406 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Chemke syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:12,152,346...12,165,983 		JBrowse link
G Fkrp fukutin related protein ISO DNA:missense mutation:exon:p.M1V (c.1A>G) (human)
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | 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 OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1464708 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 More... RGD:11667969 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | 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 congenital muscular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation, insertions: :multiple
DNA:insertion:exon:c.1167insA (human) 		ClinVar
CTD
RGD		 PMID:9 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 More... RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:73,135,361...73,189,181 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:117,616,029...117,622,866 JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Pagon syndrome ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 More... NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy 		CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,609,004...12,054,707 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO
ISS 		DNA:missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | 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 congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
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 		ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... RGD:11532772, RGD:11071487, RGD:1554293, RGD:11065512 NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:134,870,975...134,880,863 		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 8:130,522,607...130,538,273
Ensembl chr 8:130,521,459...130,571,943 		JBrowse link
G Pomk protein-O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:72,788,842...72,801,122
Ensembl chr16:72,794,831...72,801,103 		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 congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg 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:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:35,918,188...35,936,364 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:nonsense mutations, splice-site mutation:exon:p.T433X (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
RGD		 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... RGD:11532761 NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:112,486,416...112,525,799 		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:23519211 PMID:24033266 PMID:25741868 PMID:27733679 More... NCBI chr 7:59,656,274...59,668,140
Ensembl chr 7:59,656,276...59,668,050 		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: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | 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 congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome 		ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:134,883,706...134,888,730 		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: DCX-related condition | ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation OMIM
ClinVar		 PMID:9489699 PMID:9489700 PMID:9618162 PMID:9989615 PMID:10369164 More... NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:112,227,455...112,304,161 		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: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... RGD:11565832 NCBI chr  X:62,010,097...62,022,009
Ensembl chr  X:62,010,097...62,022,002 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        Nervous System Malformations 907
          complex cortical dysplasia with other brain malformations 572
            Malformations of Cortical Development, Group II 79
              Periventricular Laminar Heterotopia 1
              lissencephaly + 64
              periventricular nodular heterotopia + 15
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        Congenital Abnormalities 3298
          Nervous System Malformations 907
            complex cortical dysplasia with other brain malformations 572
              Malformations of Cortical Development, Group II 79
                Periventricular Laminar Heterotopia 1
                lissencephaly + 64
                periventricular nodular heterotopia + 15
paths to the root