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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:lissencephaly
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Accession:DOID:0050453 term browser browse the term
Definition:A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
Synonyms:exact_synonym: Agyria;   Broad Gyri of Cerebrum;   ILS;   LIS1;   LISSENCEPHALY 1;   LISSENCEPHALY SEQUENCE, ISOLATED;   Large Gyri of Cerebrum;   Lissencephalia;   Lissencephalies;   Macrogyria;   Macrogyrias;   Pachygyria;   Pachygyrias;   agyrias
 narrow_synonym: LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA;   LISSENCEPHALY, DOMINANT;   LISSENCEPHALY, RECESSIVE;   LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA;   SBH;   SCLH;   subcortical band heterotopia
 primary_id: MESH:D054082
 alt_id: OMIM:607432
 xref: GARD:12291;   ICD10CM:Q04.3;   ICD10CM:Q04.8;   NCI:C103921;   OMIM:PS607432;   ORDO:102009;   ORDO:48471
For additional species annotation, visit the Alliance of Genome Resources.


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lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:29706646 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Ctnna2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr 4:107,880,611...109,042,724
Ensembl chr 4:107,881,826...108,008,484
JBrowse link
G Dag1 dystroglycan 1 ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dcx doublecortin ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22544365, PMID:23883322, PMID:25741868 NCBI chr 5:60,866,498...60,871,734
Ensembl chr 5:60,868,502...60,871,705
JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:7635482, PMID:10090473, PMID:11916007, PMID:15823288, PMID:19208450, PMID:25741868, PMID:30311386 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:30471716 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar NCBI chr10:27,845...27,921
Ensembl chr10:27,845...27,921
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:18391202, PMID:24033266, PMID:25741868, PMID:26017485, PMID:26436109, PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Myt1l myelin transcription factor 1-like ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:30311386 NCBI chr 6:48,452,385...48,843,443
Ensembl chr 6:48,452,369...48,857,936
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180, PMID:9620777, PMID:10398434, PMID:10852373, PMID:11093281, PMID:11279524, PMID:11953735, PMID:12123493, PMID:12505263, PMID:12833396, PMID:14973119, PMID:15185344, PMID:16033915, PMID:16544999, PMID:17103455, PMID:18606567, PMID:18940477, PMID:19635536, PMID:19908051, PMID:20444919, PMID:22131123, PMID:22293976, PMID:22941933, PMID:23317186, PMID:23765759, PMID:24033266, PMID:24113799, PMID:25186627, PMID:25485873, PMID:25741868, PMID:25980754, PMID:26083025, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:27150568, PMID:27616075, PMID:28492532, PMID:30311386 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
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 chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 severity ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence
ClinVar Annotator: match by term: Lissencephaly 1
ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
DNA:mutations::
ClinVar Annotator: match by OMIM:607432
OMIM
ClinVar
PMID:9063735, PMID:9147889, PMID:9817918, PMID:10441340, PMID:11115846, PMID:11502906, PMID:12668601, PMID:12885786, PMID:14581661, PMID:15007136, PMID:17664403, PMID:18414213, PMID:19667223, PMID:24088041, PMID:24862549, PMID:25326635, PMID:25741868, PMID:26633545, PMID:27891766, PMID:28440899, PMID:30311386, PMID:32238909, PMID:11115846 RGD:11073221 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple
ClinVar Annotator: match by term: Pachygyria
ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386, PMID:17559086 RGD:11065022 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
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 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
G Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:118,628,777...118,651,238
Ensembl chr 8:118,628,777...118,651,238
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:23757202, PMID:25741868, PMID:28492532 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:40,171,957...40,217,056
Ensembl chr 7:40,171,963...40,217,056
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Pachygyria ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
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)
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191
MouseDO PMID:17584854 RGD:12859083 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
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:10411937, PMID:12325076, PMID:16685646, PMID:22366783, PMID:22495914, PMID:23649928, PMID:23756437, PMID:25052316, PMID:25156961, PMID:25741868, PMID:27240540, PMID:27868373, PMID:28492532 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Actg1 actin, gamma 1 ISS OMIM:243310 | OMIM:614583 MouseDO NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar Annotator: match by term: 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:22495914, PMID:23649928, PMID:23756437, PMID:24033266, PMID:25052316, PMID:25156961, PMID:25741868, PMID:26467025, PMID:27240540, PMID:27868373, PMID:28492532, PMID:29220674, PMID:29261186, PMID:32860008 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2
ClinVar Annotator: match by OMIM:614583
OMIM
ClinVar
PMID:3351890, PMID:18414213, PMID:22366783, PMID:24033266, PMID:25052316, PMID:25741868 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
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:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
ClinVar Annotator: match by term: Lissencephaly classic
ClinVar Annotator: match by term: Type 1 lissencephaly
ClinVar PMID:9063735, PMID:9147889, PMID:9817918, PMID:10441340, PMID:11115846, PMID:11502906, PMID:12668601, PMID:12885786, PMID:14581661, PMID:15007136, PMID:17664403, PMID:18414213, PMID:19667223, PMID:24088041, PMID:24862549, PMID:25326635, PMID:25741868, PMID:26633545, PMID:27891766, PMID:28440899, PMID:30311386, PMID:32238909 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
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 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
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:28914264, PMID:29437916, PMID:30060766, PMID:30257713, PMID:30311386, PMID:30684953, PMID:31211170 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,646,905...55,689,223
Ensembl chr 6:55,648,021...55,689,218
JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,586,754...55,647,650
Ensembl chr 6:55,586,346...55,647,665
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 chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,694,269...55,757,234
Ensembl chr 6:55,694,470...55,711,146
JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,812,820...55,816,994
Ensembl chr 6:55,812,747...55,817,066
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar PMID:23877401, PMID:25558065 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
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:30311386, PMID:30564623, PMID:31041397, PMID:31671740 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
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 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:236670 MouseDO NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
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 Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED
ClinVar
OMIM
PMID:11320179, PMID:12369018, PMID:15037715, PMID:15637732, PMID:16575835, PMID:16717220, PMID:17559086, PMID:17869517, PMID:17878207, PMID:18414213, PMID:18513969, PMID:18640039, PMID:18752264, PMID:19222032, PMID:19299310, PMID:20816175, PMID:22323514, PMID:22549409, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25326635, PMID:25741868, PMID:26467025, PMID:28116189, PMID:28492532, PMID:28556411, PMID:30311386, PMID:31319225, PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
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 chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
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, PMID:30311386 NCBI chr 7:64,329,341...64,341,201
Ensembl chr 7:64,326,465...64,341,207
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
ClinVar Annotator: match by OMIM:615181
OMIM
ClinVar
PMID:23453667, PMID:24084573, PMID:25326635, PMID:25741868, PMID:28492532, PMID:29273094, PMID:29302074 NCBI chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667, PMID:28492532 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,710,347...70,818,789 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 chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128
JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
ClinVar
OMIM
PMID:23877401, PMID:25558065, PMID:25741868, PMID:28492532 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
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 chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
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: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
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
OMIM
PMID:11709191, PMID:12588800, PMID:12788071, PMID:12849864, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:21361872, PMID:22323514, PMID:22522420, PMID:22554691, PMID:23326386, PMID:23689641, PMID:24282183, PMID:24731844, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26908613, PMID:26938784, PMID:27493216, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28832562, PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
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 PMID:11709191, PMID:12588800, PMID:12788071, PMID:12849864, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:21361872, PMID:22323514, PMID:22522420, PMID:22554691, PMID:23326386, PMID:23689641, PMID:24282183, PMID:24731844, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26938784, PMID:27493216, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28832562, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
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: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
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, PMID:30311386 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
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 chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar Annotator: match by OMIM:614830
OMIM
ClinVar
PMID:18414213, PMID:22958903, PMID:25558065, PMID:25741868, PMID:26467025, PMID:27066570, PMID:28492532 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
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 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
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 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
OMIM
ClinVar
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 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
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 chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
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 chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
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 chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
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:17218254, PMID:17584854, PMID:18414213, PMID:18669490, PMID:18728072, PMID:18954413, PMID:20466733, PMID:20603323, PMID:21403111, PMID:22264709, PMID:23361065, PMID:23528852, PMID:24088041, PMID:24860126, PMID:25008804, PMID:25059107, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26633545, PMID:26663670, PMID:26795593, PMID:28492532, PMID:29706646, PMID:30087272, PMID:30311386, PMID:30744660, PMID:31474318, PMID:32581362 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
Lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar NCBI chr10:27,845...27,921
Ensembl chr10:27,845...27,921
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
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 chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
Lissencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Lissencephaly 5
ClinVar Annotator: match by OMIM:615191
OMIM
ClinVar
PMID:23472759, PMID:25326635, PMID:25741868, PMID:25925986 NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
JBrowse link
Lissencephaly 6, with Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Lissencephaly 6, with microcephaly OMIM
ClinVar
PMID:25521378, PMID:25521379 NCBI chr19:10,340,027...10,360,319
Ensembl chr19:10,340,307...10,360,310
JBrowse link
Lissencephaly 7 with Cerebellar Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
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
OMIM
PMID:27773428 NCBI chr 7:40,171,957...40,217,056
Ensembl chr 7:40,171,963...40,217,056
JBrowse link
Lissencephaly 9 with Complex Brainstem Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION OMIM
ClinVar
PMID:24507697, PMID:25741868, PMID:30471716 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
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:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
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:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
ClinVar Annotator: match by OMIM:614499
OMIM
ClinVar
PMID:22279524, PMID:25741868, PMID:27773430 NCBI chr 7:36,395,665...36,408,588
Ensembl chr 7:36,395,665...36,408,588
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 chr10:62,019,379...62,032,384
Ensembl chr10:62,019,379...62,032,407
JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISS OMIM:247200 MouseDO NCBI chr10:62,007,150...62,010,774
Ensembl chr10:62,007,150...62,009,582
JBrowse link
G Mnt MAX network transcriptional repressor ISS OMIM:247200 MouseDO NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISS OMIM:247200 MouseDO NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISS OMIM:247200 MouseDO NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709
JBrowse link
Norman-Roberts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reln reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome
ClinVar Annotator: match by term: Lissencephaly 2
ClinVar Annotator: match by OMIM:257320
ClinVar Annotator: match by term: Lissencephaly 2 (Norman-Roberts type)
OMIM
ClinVar
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:30311386, PMID:30891068, PMID:31134136, PMID:28123028 RGD:13207512 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp2 tubulin, gamma complex associated protein 2 ISO ClinVar Annotator: match by term: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES ClinVar
OMIM
PMID:31630790 NCBI chr 1:212,333,740...212,359,352
Ensembl chr 1:212,333,741...212,354,273
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:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Eml1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain ClinVar
OMIM
PMID:24859200, PMID:28556411 NCBI chr 6:132,367,342...132,450,488
Ensembl chr 6:132,383,337...132,450,393
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10441340, PMID:11502906, PMID:14581661, PMID:18414213, PMID:25741868 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
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:9618162, PMID:19098909 RGD:12904718, RGD:12904762, RGD:12904725 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
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 chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399
JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISS OMIM:236670 | OMIM:253280 MouseDO NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420, PMID:22522421 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,800,754...78,812,483
Ensembl chr 1:78,800,754...78,812,483
JBrowse link
G Dag1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18923033, PMID:24824861 RGD:11537405, RGD:11537406 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
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: Muscle eye brain disease
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:30311386, PMID:30564623, PMID:31041397, PMID:31671740, PMID:20236121 RGD:11667969 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation, insertions: :multiple
DNA:insertion:exon:c.1167insA (human)
ClinVar
CTD
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 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Fsd1l fibronectin type III and SPRY domain containing 1-like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:70,441,075...70,517,131
Ensembl chr 5:70,441,123...70,511,659
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
G Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,818,360...78,822,224
Ensembl chr 1:78,818,404...78,822,224
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by OMIM:253280
ClinVar Annotator: match by term: Muscle eye brain disease
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)
DNA:missense mutations, splice-site mutations, deletions: :multiple
DNA:deletions, splice-site mutation:exon, intron:multiple
DNA:missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar
CTD
PMID:11709191, PMID:12588800, PMID:12788071, PMID:12849864, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17154333, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:18691338, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:20981092, PMID:21228398, PMID:21361872, PMID:21727005, PMID:21983716, PMID:22323514, PMID:22522420, PMID:22554691, PMID:22995991, PMID:23326386, PMID:23453855, PMID:23689641, PMID:24033266, PMID:24123366, PMID:24282183, PMID:24731844, PMID:24733390, PMID:25326635, PMID:25333069, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26908613, PMID:26938784, PMID:27493216, PMID:27884173, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28765568, PMID:28832562, PMID:30311386, PMID:30961548, PMID:15236414, PMID:11709191, PMID:22554691, PMID:23689641 RGD:11071487, RGD:1554293, RGD:11065512, RGD:11532772 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD PMID:26060116 RGD:11532770 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
JBrowse link
G Pomk protein-O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
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
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
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:16717220, PMID:17559086, PMID:17869517, PMID:17878207, PMID:18513969, PMID:18640039, PMID:18752264, PMID:19299310, PMID:20816175, PMID:22323514, PMID:22549409, PMID:23757202, PMID:24033266, PMID:24304607, PMID:24491487, PMID:25741868, PMID:26467025, PMID:28116189, PMID:28492532, PMID:30311386, PMID:32860008, PMID:12369018, PMID:15637732, PMID:16575835 RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
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 chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
G Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,767,911...78,796,223
Ensembl chr 1:78,767,911...78,796,231
JBrowse link
G Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,833,449...78,835,832
Ensembl chr 1:78,833,157...78,837,623
JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD
ClinVar
PMID:23217329, PMID:24033266, PMID:28492532 NCBI chr 7:64,329,341...64,341,201
Ensembl chr 7:64,326,465...64,341,207
JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,739,930...78,765,696
Ensembl chr 1:78,735,678...78,765,692
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscle eye brain disease
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:30311386, PMID:30961548 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    physical disorder 996
      congenital nervous system abnormality 544
        lissencephaly 64
          Baraitser-Winter syndrome + 2
          Classical Lissencephalies and Subcortical Band Heterotopias + 5
          Cobblestone Lissencephaly + 33
          Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 0
          Frontotemporal Pachygyria 0
          Lissencephaly 10 1
          Lissencephaly 3 + 3
          Lissencephaly 4 3
          Lissencephaly 5 1
          Lissencephaly 6, with Microcephaly 1
          Lissencephaly 7 with Cerebellar Hypoplasia 1
          Lissencephaly 8 1
          Lissencephaly 9 with Complex Brainstem Malformation 1
          Massa Casaer Ceulemans Syndrome 0
          Mental Retardation, Autosomal Recessive 34, with variant lissencephaly 1
          Miller-Dieker lissencephaly syndrome 5
          Norman-Roberts syndrome 1
          PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 1
          Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 0
          Partial Lissencephaly 0
          Winter Harding Hyde Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                complex cortical dysplasia with other brain malformations 749
                  Malformations of Cortical Development, Group II 137
                    lissencephaly 64
                      Baraitser-Winter syndrome + 2
                      Classical Lissencephalies and Subcortical Band Heterotopias + 5
                      Cobblestone Lissencephaly + 33
                      Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 0
                      Frontotemporal Pachygyria 0
                      Lissencephaly 10 1
                      Lissencephaly 3 + 3
                      Lissencephaly 4 3
                      Lissencephaly 5 1
                      Lissencephaly 6, with Microcephaly 1
                      Lissencephaly 7 with Cerebellar Hypoplasia 1
                      Lissencephaly 8 1
                      Lissencephaly 9 with Complex Brainstem Malformation 1
                      Massa Casaer Ceulemans Syndrome 0
                      Mental Retardation, Autosomal Recessive 34, with variant lissencephaly 1
                      Miller-Dieker lissencephaly syndrome 5
                      Norman-Roberts syndrome 1
                      PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 1
                      Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 0
                      Partial Lissencephaly 0
                      Winter Harding Hyde Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.